FlyBase Allele Report: Dmel\sax[5]

General Information

Symbol

Dmel\sax⁵

Species

D. melanogaster

Name

FlyBase ID

FBal0050459

Feature type

allele

Associated gene

Dmel\sax

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

amorphic allele - genetic evidence

(Singer et al., 1997)

Mutagen

ethyl methanesulfonate

(Twombly et al., 2009, Singer et al., 1997, Twombly et al., 1996)

Progenitor genotype

Cytology

Description

A missense mutation altering a highly conserved Ala residue affecting a region responsible for ATP binding in the cytoplasmic kinase domain.

(Twombly et al., 2009)

Amino acid replacement: A289D.

(Twombly et al., 2009)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:7,808,306..7,808,306 [+]

Nucleotide change:

C7808306A

Reported nucleotide change:

C?A

Amino acid change:

A289D | sax-PA; A254D | sax-PB; A301D | sax-PC

Reported amino acid change:

A289D

(Twombly et al., 2009)

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 ( 0 )

Disease

Evidence

References

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

exacerbates neuronal ceroid lipofuscinosis 7

modeled by Cln7^84D, sax⁴

(Connolly et al., 2019)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal developmental rate | larval stage (with Df(2R)H23)

(Twombly et al., 2009)

abnormal neurophysiology (with sax⁴)

(McCabe et al., 2004)

abnormal size | larval stage (with Df(2R)H23)

(Twombly et al., 2009)

lethal (with Df(2R)H23)

(Twombly et al., 2009)

lethal (with Df(2R)sax^1rv2)

(Twombly et al., 2009)

lethal (with Df(2R)sax^PE7)

(Twombly et al., 2009)

lethal (with Df(2R)sax-H9)

(Twombly et al., 2009)

lethal (with sax^1rv1)

(Twombly et al., 2009)

lethal (with sax^1rv5)

(Twombly et al., 2009)

lethal (with sax³)

(Twombly et al., 2009)

lethal (with sax⁶)

(Twombly et al., 2009)

lethal (with sax^PE5)

(Twombly et al., 2009)

lethal (with sax^PE10)

(Twombly et al., 2009)

lethal | larval stage (with sax⁴)

(Twombly et al., 2009)

lethal | P-stage (with sax⁴)

(Twombly et al., 2009)

lethal | recessive

(Singer et al., 1997)

partially lethal - majority die (with sax^P)

(Twombly et al., 2009)

viable (with sax¹)

(Twombly et al., 2009)

viable (with sax²)

(Twombly et al., 2009)

visible | recessive | somatic clone

(Twombly et al., 2009)

Phenotype Manifest In

2nd posterior cell | somatic clone

(Twombly et al., 2009)

brain | larval stage (with Df(2R)H23)

(Twombly et al., 2009)

discal cell | somatic clone

(Twombly et al., 2009)

dorsal appendage

(Twombly et al., 1996)

dorsal appendage | germline clone

(Twombly et al., 1996)

egg

(Twombly et al., 1996)

egg | germline clone

(Twombly et al., 1996)

egg chamber | germline clone

(Twombly et al., 1996)

embryonic/larval neuromuscular junction | third instar larval stage (with sax⁴)

(Connolly et al., 2019)

fat body (with Df(2R)H23)

(Ballard et al., 2010)

imaginal disc (with Df(2R)H23)

(Twombly et al., 2009)

muscle cell of A1-7 lateral longitudinal muscle 1 | third instar larval stage (with sax⁴)

(Connolly et al., 2019)

NMJ bouton | increased number | third instar larval stage (with sax⁴)

(Connolly et al., 2019)

ovary

(Twombly et al., 1996)

tracheal section | larval stage (with Df(2R)H23)

(Twombly et al., 2009)

wing basal cell 2 | somatic clone

(Twombly et al., 2009)

wing vein L4 | somatic clone

(Twombly et al., 2009)

Detailed Description

Statement

Reference

The neuromuscular junctions of sax⁴/sax⁵ homozygous transheterozygous third instar larvae present significantly less boutons than controls.

(Connolly et al., 2019)

sax⁵ heterozygous females show the expected mating-induced increase in germline stem cells in the germarium.

(Ameku et al., 2018)

sax⁴/sax⁵ third instar larval C4da neurons do not show any obvious defects in the dendritic arborization, as compared to controls.

(Hoyer et al., 2018)

sax⁵/Df(2R)H23 mutant third instar larvae show increased uptake and transport of ingested fluorescently labeled fatty acids from the midgut lumen to the fat body compared to wild-type controls.

(Ballard et al., 2010)

Large posterior clones of sax⁵ show significant loss of longitudinal vein 4 (L4) and a narrowing of the L4/L5 intervein.

Less than 5% of sax⁵/Df(2R)H23 hemizygous mutant larvae exhibit developmental delay, lethargy, a reduction in the size of imaginal discs, brain | larval stage, and midgut structures, as well as trachea | larval stagel truncations.

(Twombly et al., 2009)

The evoked excitatory junctional potential (EJP) (measured at muscle 6 of segment A3) shows a decrease in amplitude in sax⁴/sax⁵ animals compared to wild type. Quantal content is reduced compared to wild type.

(McCabe et al., 2004)

Females deficient for ovarian sax function produce two classes of abnormal eggs. The majority class has abnormal dorsal appendages, the minority class shows reduced egg length as well as abnormal dorsal appendages. In germline clones, only 10-25% or normal number of eggs is produced, over a much briefer time period than for wild type. Most are normal though 20% show aberrant dorsal appendages and short length. Clones display degenerating mid-stage chambers, and produce anterior-open eggs.

(Twombly et al., 1996)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhancer of

Statement

Reference

sax⁵ is an enhancer of partially lethal - majority die phenotype of dpp^d5/dpp^hr56

(Twombly et al., 2009)

NOT Enhancer of

Statement

Reference

sax⁵ is a non-enhancer of visible phenotype of Ppt1^UAS.cKa, Scer\GAL4^GMR.PF

(Buff et al., 2007)

NOT Suppressor of

Statement

Reference

sax⁵ is a non-suppressor of visible phenotype of Ppt1^UAS.cKa, Scer\GAL4^GMR.PF

(Buff et al., 2007)

Other

Statement

Reference

Cln7^84D, sax⁴/sax⁵ has lethal - all die before end of second instar larval stage phenotype

(Connolly et al., 2019)

NPFR^sk8, sax[+]/sax⁵ has decreased cell number | oogenesis | conditional phenotype

(Ameku et al., 2018)

Mad^D14, sax⁵ has visible | dominant phenotype

(Chen et al., 1998)

Mad^D16, sax⁵ has visible | dominant phenotype

(Chen et al., 1998)

sax⁵, tkv^D17 has visible | dominant phenotype

(Chen et al., 1998)

E(tkv)D2^D2, sax⁵ has visible | dominant phenotype

(Chen et al., 1998)

gbb⁴, sax⁵ has partially lethal phenotype

(Khalsa et al., 1998)

gbb⁴/gbb¹, sax⁵ has partially lethal phenotype

(Khalsa et al., 1998)

Phenotype Manifest In

NOT Enhancer of

Statement

Reference

sax⁵ is a non-enhancer of eye phenotype of Ppt1^UAS.cKa, Scer\GAL4^GMR.PF

(Buff et al., 2007)

sax[+]/sax⁵ is a non-enhancer of dorsal appendage phenotype of bwk¹⁵¹, cic⁰⁸⁴⁸²

(Tran and Berg, 2003)

NOT Suppressor of

Statement

Reference

sax⁵ is a non-suppressor of wing phenotype of dpp^d5/dpp^hr56

(Twombly et al., 2009)

sax⁵ is a non-suppressor of eye phenotype of Ppt1^UAS.cKa, Scer\GAL4^GMR.PF

(Buff et al., 2007)

sax[+]/sax⁵ is a non-suppressor of dorsal appendage phenotype of bwk¹⁵¹, cic⁰⁸⁴⁸²

(Tran and Berg, 2003)

Other

Statement

Reference

NPFR^sk8, sax[+]/sax⁵ has female germline stem cell | conditional phenotype

(Ameku et al., 2018)

Additional Comments

Genetic Interactions

Statement

Reference

NPFR^sk8, sax⁵ double heterozygous females fail to show the expected mating-induced increase in germline stem cells in the germarium, as compared to heterozygous controls.

(Ameku et al., 2018)

When dpp[hr4]/+ males are crossed to sax⁵/+ females, the resulting dpp^hr4/+ progeny do not show any significant drop in viability compared to the dpp^hr4/+ progeny of wild-type mothers in control crosses.

sax⁵ does not suppress the dpp^d5/dpp^hr56 wing phenotype. sax⁵ enhances the lethality associated with dpp^d5/dpp^hr56.

(Twombly et al., 2009)

The mutant dorsal appendage phenotype seen in bwk¹⁵¹/bwk⁰⁸⁴⁸² eggs is not significantly modified by sax⁵/+.

(Tran and Berg, 2003)

No interaction with tkv⁶, E(tkv)D1^D1, Mad^D3, Mad^D15, Mad^D24, gbb^D4, gbb^D8 or gbb^D20 is seen in double heterozygous flies. Double heterozygotes with tkv^D17, E(tkv)D2^D2, Mad^D14 or Mad^D16 may show imaginal disc development defects.

(Chen et al., 1998)

Dominantly reduces the viability of gbb¹/gbb⁴ flies.

(Khalsa et al., 1998)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

Df(2R)sax-H9/sax⁵ is rescued by sax^hs.PB

(Twombly et al., 2009)

Comments

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

8785

y¹ w^*; sax⁵/CyO

Notes on Origin

Discoverer

Comments

Females lacking ovarian function of sax can be produced by rescuing the zygotic lethality of sax⁵/Df(2R)sax-H9 alleles with sax^hs.PB then maintaining the females at non-heat shock temperatures.

(Twombly et al., 1996)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (1)

Reported As

Symbol Synonym

sax⁵

(Connolly et al., 2019, Ameku et al., 2018, Hoyer et al., 2018, Sarov et al., 2016, Kang et al., 2014, Ballard et al., 2010, Twombly et al., 2009, Buff et al., 2007, Christensen and Cook, 2007.3.22)

Name Synonyms

Secondary FlyBase IDs

References (15)

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