FlyBase Allele Report: Dmel\vari[327]

General Information

Symbol

Dmel\vari³²⁷

Species

D. melanogaster

Name

FlyBase ID

FBal0212965

Feature type

allele

Associated gene

Dmel\vari

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

loss of function allele

Mutagen

Nature of the Allele

Allele class

loss of function allele

(Wu et al., 2007)

Mutagen

Progenitor genotype

Cytology

Description

Mutation in the splice acceptor site of common exon 6. The mutant splice site is skipped, and the next AG-site inside exon 6 is used as a splice acceptor instead. This results in a 15bp deletion which removes the amino acid residues IINVK of the SH3 domain without affecting the reading frame.

(Bachmann et al., 2008)

Mutation in the fourth common intron splice acceptor site.

(Wu et al., 2007)

Nucleotide substitution: G?A.

(Wu et al., 2007)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2L:20,790,553..20,790,553 [-]

Nucleotide change:

G20790553A

Reported nucleotide change:

G?A

Comment:

Mutation in the fourth common intron splice acceptor site.

(Wu et al., 2007)

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 ( 0 )

Disease

Interaction

References

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy | embryonic stage

(Jeong et al., 2017)

abnormal neuroanatomy | embryonic stage (with vari^48EP)

(Jeong et al., 2017)

abnormal neuroanatomy | embryonic stage (with vari^R3)

(Jeong et al., 2017)

lethal (with Df(2L)TW2)

(Wu et al., 2007)

lethal (with vari^38EFa2)

(Wu et al., 2007)

lethal (with vari^03953b)

(Wu et al., 2007)

lethal (with vari^f00033)

(Wu et al., 2007)

lethal (with vari^HM2043)

(Wu et al., 2007)

lethal (with vari^R3)

(Wu et al., 2007)

lethal (with vari^R979)

(Wu et al., 2007)

lethal (with vari^R2376)

(Wu et al., 2007)

lethal | recessive

(Wu et al., 2007)

Phenotype Manifest In

Detailed Description

Statement

Reference

vari³²⁷ homozygous as well as vari³²⁷/vari^R3 and vari³²⁷/vari^48EP transheterozygous embryos display increased frequency of defasciculation defects in intersegmental nerve b motor axons (and as demonstrated for the homozygotes, in segmental nerve a and in intersegmental nerve); no significant increase in axon guiding defects is observed in vari³²⁷ heterozygotes.

(Jeong et al., 2017)

Mutants show defects in septate junction barrier function (as tested using a dye exclusion assay).

Mutants have strong tracheal defects.

(Wu et al., 2007)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

vari³²⁷ has abnormal neuroanatomy | embryonic stage phenotype, enhanceable by Scer\GAL4^repo/vari^long.UAS

(Jeong et al., 2017)

vari³²⁷ has abnormal neuroanatomy | embryonic stage phenotype, enhanceable by Scer\GAL4^sca-537.4/vari^long.UAS

(Jeong et al., 2017)

Enhancer of

Statement

Reference

vari³²⁷/vari³²⁷ is an enhancer of abnormal neuroanatomy | embryonic stage phenotype of Sema1a^k13702

(Jeong et al., 2017)

vari[+]/vari³²⁷ is an enhancer of abnormal neuroanatomy | embryonic stage phenotype of cher^Q1042X

(Jeong et al., 2017)

vari[+]/vari³²⁷ is an enhancer of abnormal neuroanatomy | embryonic stage phenotype of Sema1a^k13702

(Jeong et al., 2017)

Other

Statement

Reference

pbl[+]/pbl², vari³²⁷ has abnormal neuroanatomy | embryonic stage phenotype

(Jeong et al., 2017)

Phenotype Manifest In

Enhanced by

Statement

Reference

vari³²⁷ has larval intersegmental nerve branch ISNb of A1-7 | embryonic stage phenotype, enhanceable by Scer\GAL4^repo/vari^long.UAS

(Jeong et al., 2017)

vari³²⁷ has axon | embryonic stage phenotype, enhanceable by Scer\GAL4^repo/vari^long.UAS

(Jeong et al., 2017)

vari³²⁷ has larval intersegmental nerve branch ISNb of A1-7 | embryonic stage phenotype, enhanceable by Scer\GAL4^sca-537.4/vari^long.UAS

(Jeong et al., 2017)

vari³²⁷ has axon | embryonic stage phenotype, enhanceable by Scer\GAL4^sca-537.4/vari^long.UAS

(Jeong et al., 2017)

Enhancer of

Statement

Reference

vari[+]/vari³²⁷ is an enhancer of larval intersegmental nerve branch ISNb of A1-7 | embryonic stage phenotype of Sema1a^k13702

(Jeong et al., 2017)

vari[+]/vari³²⁷ is an enhancer of axon | embryonic stage phenotype of Sema1a^k13702

(Jeong et al., 2017)

vari³²⁷/vari³²⁷ is an enhancer of larval intersegmental nerve branch ISNb of A1-7 | embryonic stage phenotype of Sema1a^k13702

(Jeong et al., 2017)

vari³²⁷/vari³²⁷ is an enhancer of axon | embryonic stage phenotype of Sema1a^k13702

(Jeong et al., 2017)

vari[+]/vari³²⁷ is an enhancer of larval intersegmental nerve branch ISNb of A1-7 | embryonic stage phenotype of cher^Q1042X

(Jeong et al., 2017)

vari[+]/vari³²⁷ is an enhancer of axon | embryonic stage phenotype of cher^Q1042X

(Jeong et al., 2017)

Other

Statement

Reference

pbl[+]/pbl², vari³²⁷ has axon | embryonic stage phenotype

(Jeong et al., 2017)

pbl[+]/pbl², vari³²⁷ has larval intersegmental nerve branch ISNb of A1-7 | embryonic stage phenotype

(Jeong et al., 2017)

Additional Comments

Genetic Interactions

Statement

Reference

Expression of vari^{long.Scer\UAS} controlled by either Scer\GAL4^repo or Scer\GAL4^sca-537.4 actually increases the frequency of defasciculation defects in vari³²⁷ embryos.

vari³²⁷/+;pbl²/+ double heterozygous embryos display high frequency of axon guidance defects in intersegmental nerve b (no such effect is observed in vari³²⁷/+,Df(2R)B65/+ embryos) and the moderate axon pathfinding defects observed in either cher^Q1042X or Sema1a^k13702 heterozygous embryos are enhanced by combination with a single copy of vari³²⁷.

The very strong defects observed in Sema1a^k13702 homozygotes cannot be worsened further by vari³²⁷ homozygosity.

(Jeong et al., 2017)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Fails to complement

vari^MD109

(Bachmann et al., 2008)

Rescued by

vari³²⁷ is rescued by vari^long.UAS/Scer\GAL4^elav.PLu

(Jeong et al., 2017)

vari³²⁷ is rescued by Scer\GAL4^VGlut1-OK371/vari^long.UAS

(Jeong et al., 2017)

Not rescued by

vari³²⁷ is not rescued by Scer\GAL4^repo/vari^long.UAS

(Jeong et al., 2017)

vari³²⁷ is not rescued by Scer\GAL4^sca-537.4/vari^long.UAS

(Jeong et al., 2017)

vari³²⁷ is not rescued by vari^short.UAS/Scer\GAL4^elav.PLu

(Jeong et al., 2017)

vari³²⁷ is not rescued by vari^short.UAS/Scer\GAL4^sca-537.4

(Jeong et al., 2017)

vari³²⁷ is not rescued by vari^short.UAS/Scer\GAL4^repo

(Jeong et al., 2017)

vari³²⁷ is not rescued by vari^{ΔPDZ.UAS.Tag:HA}/Scer\GAL4^elav.PLu

(Jeong et al., 2017)

Comments

Expression of vari^{long.Scer\UAS} under the control of either Scer\GAL4^elav.PLu or Scer\GAL4^VGlut-OK371 significantly rescues the axon guidance defects observed in intersegmental nerve b motor axons of vari³²⁷ mutant embryos. Expression controlled by either Scer\GAL4^repo or Scer\GAL4^sca-537.4 not only doesn't improve the defasciculation defects in vari³²⁷ embryos but actually increases their frequency. In contrast, expression of either vari^{short.Scer\UAS} (with any of these: Scer\GAL4^elav.PLu, Scer\GAL4^sca-537.4, Scer\GAL4^repo drivers) or vari^{ΔPDZ.Scer\UAS.T:Ivir\HA1} (driven by Scer\GAL4^elav.PLu) does not significantly improve the axon guidance defects.

(Jeong et al., 2017)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

327

(Wu et al., 2007)

vari³²⁷

(Nguyen et al., 2022, Jeong et al., 2017, Bachmann et al., 2008)

Name Synonyms

Secondary FlyBase IDs

References (4)

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