FlyBase Allele Report: Dmel\rl[R80S.UAS]

General Information

Symbol

Dmel\rl^R80S.UAS

Species

D. melanogaster

Name

FlyBase ID

FBal0358597

Feature type

allele

Associated gene

Dmel\rl

Associated Insertion(s)

Carried in Construct

P{UAS-rl.R80S}

Key Links

Genomic Maps

JBrowse

Transgenic product class

missense_variant

(Kushnir et al., 2020)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Kushnir et al., 2020)

Mutagen

in vitro construct

(Kushnir et al., 2020)

Progenitor genotype

Carried in construct

P{UAS-rl.R80S}

Cytology

Description

UASt regulates expression of rl containing a serine instead of an arginine at position amino acid 80, equivalent to the R68S mutation initially identified in the yeast ERK, Mpk1, which renders Mpk1 intrinsically active. Mutations at the equivalent residue of human ERK1 (R84) and ERK2 (R65) have been found in human tumors.

(Kushnir et al., 2020)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:1,076,716..1,076,716 [+]

Nucleotide change:

G1076716C

Amino acid change:

Reported amino acid change:

R80S

Comment:

Analogous R67I mutation in human MAPK1 and R84H in human MAPK3 implicated in cancer; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Kushnir et al., 2020)

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 cancer

CEA with scrib¹

(Kushnir et al., 2020)

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Kushnir et al., 2020)

A somatic variant at the analogous site has been found associated with cancer in each of the two paralogous genes in human (MAPK1, MAPK3).

(FlyBase curators, 2019-)

MAPK1:p.Arg67Ile

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

cancer, multiple, MAPK1,3-related

External database links

Comments concerning this variant

MAPK3:p.Arg84His

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

cancer, multiple, MAPK1,3-related

External database links

Comments concerning this variant

Phenotypic Data

Phenotypic Class

visible | adult stage, with Scer\GAL4^Bx-MS1096

(Kushnir et al., 2020)

Phenotype Manifest In

wing vein | ectopic, with Scer\GAL4^Bx-MS1096

(Kushnir et al., 2020)

Detailed Description

Statement

Reference

Expressing rl^R80S.UAS under the control of Scer\GAL4^Bx-MS1096 induces modest yet consistent formation of extra vein material in distal wing positions.

(Kushnir et al., 2020)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

rl^R80S.UAS, Scer\GAL4^Bx-MS1096 is a suppressor | partially of abnormal size | adult stage phenotype of Raf^DN.UAS, Scer\GAL4^Bx-MS1096

(Kushnir et al., 2020)

rl^R80S.UAS, Scer\GAL4^Bx-MS1096 is a suppressor | partially of visible | adult stage phenotype of Raf^DN.UAS, Scer\GAL4^Bx-MS1096

(Kushnir et al., 2020)

rl^R80S.UAS, Scer\GAL4^Bx-MS1096 is a suppressor of visible | adult stage phenotype of Ras85D^N17.UAS, Scer\GAL4^Bx-MS1096

(Kushnir et al., 2020)

rl^R80S.UAS, Scer\GAL4^Bx-MS1096 is a suppressor | partially of abnormal size | adult stage phenotype of Dsor1^GD9123, Scer\GAL4^Bx-MS1096

(Kushnir et al., 2020)

rl^R80S.UAS, Scer\GAL4^Bx-MS1096 is a suppressor | partially of visible | adult stage phenotype of Dsor1^GD9123, Scer\GAL4^Bx-MS1096

(Kushnir et al., 2020)

rl^R80S.UAS, Scer\GAL4^Bx-MS1096 is a suppressor of abnormal size | adult stage phenotype of Ras85D^N17.UAS, Scer\GAL4^Bx-MS1096

(Kushnir et al., 2020)

Other

Statement

Reference

Dsor1^GD9123, Scer\GAL4^ey.PH, rl^R80S.UAS has partially lethal - majority die phenotype

(Kushnir et al., 2020)

Dsor1^GD9123, Scer\GAL4^ey.PH, rl^R80S.UAS has visible | adult stage phenotype

(Kushnir et al., 2020)

Scer\GAL4^Act5C.PI, rl^R80S.UAS, scrib¹ has abnormal size | somatic clone | larval stage phenotype

(Kushnir et al., 2020)

Scer\GAL4^Act5C.PI, rl^R80S.UAS, scrib¹ has neoplasia | somatic clone | adult stage phenotype

(Kushnir et al., 2020)

Phenotype Manifest In

Suppressor of

Statement

Reference

rl^R80S.UAS, Scer\GAL4^Bx-MS1096 is a suppressor | partially of wing phenotype of Raf^DN.UAS, Scer\GAL4^Bx-MS1096

(Kushnir et al., 2020)

rl^R80S.UAS, Scer\GAL4^Bx-MS1096 is a suppressor | partially of wing vein phenotype of Raf^DN.UAS, Scer\GAL4^Bx-MS1096

(Kushnir et al., 2020)

rl^R80S.UAS, Scer\GAL4^Bx-MS1096 is a suppressor | partially of wing phenotype of Dsor1^GD9123, Scer\GAL4^Bx-MS1096

(Kushnir et al., 2020)

rl^R80S.UAS, Scer\GAL4^Bx-MS1096 is a suppressor of wing phenotype of Ras85D^N17.UAS, Scer\GAL4^Bx-MS1096

(Kushnir et al., 2020)

rl^R80S.UAS, Scer\GAL4^Bx-MS1096 is a suppressor of wing vein phenotype of Ras85D^N17.UAS, Scer\GAL4^Bx-MS1096

(Kushnir et al., 2020)

Other

Statement

Reference

Dsor1^GD9123, Scer\GAL4^ey.PH, rl^R80S.UAS has eye phenotype

(Kushnir et al., 2020)

Scer\GAL4^Act5C.PI, rl^R80S.UAS, scrib¹ has eye disc | somatic clone phenotype

(Kushnir et al., 2020)

Scer\GAL4^Act5C.PI, rl^R80S.UAS, scrib¹ has adult abdomen phenotype

(Kushnir et al., 2020)

Scer\GAL4^Act5C.PI, rl^R80S.UAS, scrib¹ has antennal disc phenotype

(Kushnir et al., 2020)

Additional Comments

Genetic Interactions

Statement

Reference

The vestigial wing phenotype induced by the expression of Dsor1^GD9123 under the control of Scer\GAL4^Bx-MS1096 is only subtly suppressed by the co-expression of rl^R80S.UAS.

The pupal lethality of individuals expressing Dsor1^GD9123 under the control of Scer\GAL4^ey.PH is partially rescued by the co-expression of rl^R80S.UAS (majority die), although the adults show a (mostly mild) small eye phenotype.

The wing defects induced by the expression of Ras85D^N17.UAS under the control of Scer\GAL4^Bx-MS1096 (smaller wing and loss of L3-5 vein material are partially suppressed by the co-expression of rl^R80S.UAS (complete suppression in L3, partial suppression in L4 or L5).

scrib¹ homozygous eye disc clones that also express rl^R80S.UAS under the control of Scer\GAL4^Act5C.PI are larger than clones only homozygous for scrib¹. Double mutant antennal disc clones are readily detected, unlike scrib¹ single mutant clones. Individuals bearing double mutant clones show high abdominal accumulation of clonal cells, which is rare in the scrib¹ single mutant clone condition.

(Kushnir et al., 2020)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Comments

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (1)

Reported As

Symbol Synonym

rl^R80S.UAS

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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