FlyBase Allele Report: Dmel\csw[N308D.UASp]

General Information

Symbol

Dmel\csw^N308D.UASp

Species

D. melanogaster

Name

FlyBase ID

FBal0241536

Feature type

allele

Associated gene

Dmel\csw

Associated Insertion(s)

Carried in Construct

P{UASp-csw.N308D}

Also Known As

UAS-csw^N308D

Key Links

Genomic Maps

JBrowse

Transgenic product class

missense_variant

(Oishi et al., 2006)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Oishi et al., 2006)

Mutagen

in vitro construct

(Oishi et al., 2006)

Progenitor genotype

Carried in construct

P{UASp-csw.N308D}

Cytology

Description

UASp regulatory sequences drive expression of csw containing the amino acid replacement N287D (this mutation is equivalent to the N308D mutation in the human ortholog Hsap\PTPN11, which is a mutation associated with Noonan syndrome in humans).

(Oishi et al., 2006)

Allele components

Component

Use(s)

Regulatory region(s)

UASp

binary expression system - regulatory region

Encoded product / tool

csw

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:2,109,797..2,109,797 [+]

Nucleotide change:

A2109797G

Amino acid change:

N340D | csw-PD; N287D | csw-PA; N387D | csw-PB; N128D | csw-PC

Reported amino acid change:

N287D

Comment:

N287D mutation reported relative to isoform csw-PA; analogous mutation in human PTPN11 implicated in Noonan syndrome 1; mutation carried on in vitro construct; site of nucleotide substitution in fly gene and specific disease association inferred by FlyBase curator.

(Oishi et al., 2006)

Variant Molecular Consequences

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

Expression Data

Reporter Expression

Additional Information

Statement

Reference

Marker for

Reflects expression of

Reporter construct used in assay

Human Disease Associations

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 1 )

Disease

Evidence

References

model of Noonan syndrome 1

CEA

(Pagani et al., 2009)

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

Comments on Models/Modifiers Based on Experimental Evidence ( 1 )

FlyBase curator comment: The mutation in csw^{N308D.Scer\UAS.P\T} is associated with Noonan's syndrome in humans but although it results in various gain of function effects in transgenic flies it's not clear how these relate to the Noonan's syndrome phenotype.

(Oishi et al., 2006)

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Oishi et al., 2006)

PTPN11:p.Asn308Asp

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

Noonan syndrome 1

External database links

ClinVar: PTPN11_13326

Comments concerning this variant

Phenotypic Data

Phenotypic Class

visible, with Scer\GAL4^Tub.PU

(Oishi et al., 2006)

Phenotype Manifest In

wing vein | ectopic, with Scer\GAL4^Tub.PU

(Oishi et al., 2006)

Detailed Description

Statement

Reference

Expression of one copy of csw^{N308D.Scer\UAS.P\T} under the control of Scer\GAL4^tub.PU does not result in lethality, whereas expression of two copies results in lethality.

Flies expressing one copy of csw^{N308D.Scer\UAS.P\T} under the control of Scer\GAL4^tub.PU have ectopic wing veins, mainly in the peripheral areas of vein L2 and the posterior cross vein.

(Oishi et al., 2006)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, enhanceable by aos[+]/aos^Δ7

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, enhanceable by E(spl)m8-HLH^rv1/E(spl)m8-HLH[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, enhanceable by Stat92E[+]/Stat92E⁰⁶³⁴⁶

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, enhanceable by hop²⁷/hop[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, enhanceable by bs[+]/bs^k07909

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, enhanceable by lace[+]/lace²

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, enhanceable by lack[+]/Smurf^KG07014

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, enhanceable by Gap1[+]/RasGAP1^B2

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, enhanceable by sty[+]/sty²²⁶

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, enhanceable by Delta^6B/Dl[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, enhanceable by Delta^9P/Dl[+]

(Oishi et al., 2006)

NOT Enhanced by

Statement

Reference

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, non-enhanceable by spi¹/spi[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, non-enhanceable by spi²⁵⁹/spi[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, non-enhanceable by dos[+]/dos^P115

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, non-enhanceable by Cbl^KG03080/Cbl[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, non-enhanceable by Raf⁷/phl[+]

(Oishi et al., 2006)

Suppressed by

Statement

Reference

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, suppressible by Egfr[+]/Egfr^t1

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, suppressible by vn[+]/vn¹⁰⁵⁶⁷

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, suppressible by vn[+]/vn^C221

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, suppressible by S^k09530/S[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, suppressible by S[+]/S^IIN

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, suppressible by rho^7M43/rho[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, suppressible by rho^ve-1/rho[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, suppressible by Sos[+]/Sos^34Ea-6

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, suppressible by drk[+]/drk^e0A

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, suppressible by Ras85D^e1B/Ras85D[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, suppressible by Ras85D^N17.UAS, Scer\GAL4^Tub.PU

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, suppressible by Hsp83[+]/Hsp83^e6A

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, suppressible by Hsp83^e6D/Hsp83[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, suppressible by Dsor1[+]/Dsor1^LH110

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, suppressible by Dsor1[+]/Dsor1^S-1221

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, suppressible by rl[+]/rl^10a

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, suppressible by pnt[+]/pnt^Δ88

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, suppressible by pnt[+]/pnt¹²³⁰

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, suppressible by E(spl)m8-HLH¹/E(spl)m8-HLH[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, suppressible by Su(H)[+]/Su(H)¹

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, suppressible by dpp¹⁰⁶³⁸/dpp[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, suppressible by dpp^d6/dpp[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, suppressible by dpp^d-ho/dpp[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, suppressible by tkv¹/tkv[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, suppressible by tkv⁷/tkv[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, suppressible by Mad[+]/Mad^1-2

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, suppressible by Mad^8-2/Mad[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, suppressible by hop^Tum/hop[+]

(Oishi et al., 2006)

NOT suppressed by

Statement

Reference

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, non-suppressible by spi¹/spi[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, non-suppressible by spi²⁵⁹/spi[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, non-suppressible by dos[+]/dos^P115

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, non-suppressible by Raf⁷/phl[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has visible phenotype, non-suppressible by Cbl^KG03080/Cbl[+]

(Oishi et al., 2006)

Phenotype Manifest In

Enhanced by

Statement

Reference

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, enhanceable by aos[+]/aos^Δ7

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, enhanceable by E(spl)m8-HLH^rv1/E(spl)m8-HLH[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, enhanceable by Stat92E[+]/Stat92E⁰⁶³⁴⁶

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, enhanceable by hop²⁷/hop[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, enhanceable by bs[+]/bs^k07909

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, enhanceable by lace[+]/lace²

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, enhanceable by Gap1[+]/RasGAP1^B2

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, enhanceable by lack[+]/Smurf^KG07014

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, enhanceable by sty[+]/sty²²⁶

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, enhanceable by Delta^6B/Dl[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, enhanceable by Delta^9P/Dl[+]

(Oishi et al., 2006)

NOT Enhanced by

Statement

Reference

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, non-enhanceable by spi¹/spi[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, non-enhanceable by spi²⁵⁹/spi[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, non-enhanceable by dos[+]/dos^P115

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, non-enhanceable by Cbl^KG03080/Cbl[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, non-enhanceable by Raf⁷/phl[+]

(Oishi et al., 2006)

Suppressed by

Statement

Reference

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, suppressible by Egfr[+]/Egfr^t1

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, suppressible by vn[+]/vn¹⁰⁵⁶⁷

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, suppressible by vn[+]/vn^C221

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, suppressible by S^k09530/S[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, suppressible by S[+]/S^IIN

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, suppressible by rho^7M43/rho[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, suppressible by rho^ve-1/rho[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, suppressible by Sos[+]/Sos^34Ea-6

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, suppressible by drk[+]/drk^e0A

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, suppressible by Ras85D^e1B/Ras85D[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, suppressible by Ras85D^N17.UAS, Scer\GAL4^Tub.PU

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, suppressible by Hsp83[+]/Hsp83^e6A

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, suppressible by Hsp83^e6D/Hsp83[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, suppressible by Dsor1[+]/Dsor1^LH110

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, suppressible by Dsor1[+]/Dsor1^S-1221

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, suppressible by rl[+]/rl^10a

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, suppressible by pnt[+]/pnt^Δ88

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, suppressible by pnt[+]/pnt¹²³⁰

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, suppressible by E(spl)m8-HLH¹/E(spl)m8-HLH[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, suppressible by Su(H)[+]/Su(H)¹

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, suppressible by dpp¹⁰⁶³⁸/dpp[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, suppressible by dpp^d6/dpp[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, suppressible by dpp^d-ho/dpp[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, suppressible by tkv¹/tkv[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, suppressible by tkv⁷/tkv[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, suppressible by Mad[+]/Mad^1-2

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, suppressible by Mad^8-2/Mad[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, suppressible by hop^Tum/hop[+]

(Oishi et al., 2006)

NOT suppressed by

Statement

Reference

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, non-suppressible by spi¹/spi[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, non-suppressible by spi²⁵⁹/spi[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, non-suppressible by dos[+]/dos^P115

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, non-suppressible by Raf⁷/phl[+]

(Oishi et al., 2006)

Scer\GAL4^Tub.PU, csw^N308D.UASp has wing vein | ectopic phenotype, non-suppressible by Cbl^KG03080/Cbl[+]

(Oishi et al., 2006)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Partially rescues

csw^N308D.UASp/Scer\GAL4^GMR.PU partially rescues csw^lf

(Oishi et al., 2006)

Comments

Expression of csw^{N308D.Scer\UAS.P\T} under the control of Scer\GAL4^GMR.PU partially rescues the rough eye phenotype of csw^lf flies.

(Oishi et al., 2006)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (3)

Reported As

Symbol Synonym

csw^{N308D.Scer\UAS.P\T}

csw^{N308D.Scer\UAS}

csw^N308D.UASp

Name Synonyms

Secondary FlyBase IDs

References (4)

Report Sections

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