FlyBase Allele Report: Dmel\Rab3-GEF[SC225]

General Information

Symbol

Dmel\Rab3-GEF^SC225

Species

D. melanogaster

Name

FlyBase ID

FBal0319213

Feature type

allele

Associated gene

Dmel\Rab3-GEF

Associated Insertion(s)

Carried in Construct

Key Links

Genomic Maps

JBrowse

Allele class

amorphic allele - molecular evidence

Mutagen

Delta2-3 transposase

Nature of the Allele

Allele class

amorphic allele - molecular evidence

(Bae et al., 2016)

Mutagen

Delta2-3 transposase

(Bae et al., 2016)

Progenitor genotype

P{EPgy2}Rab3-GEF^EY06511

(Bae et al., 2016)

Cytology

Description

Imprecise excision of P{EPgy2}Rab3-GEF^EY06511, resulting in a deletion that removes most of the Rab3-GEF gene, including the start codon and predicted 5' UTR (all of the coding region except for the last three exons is also removed).

(Bae et al., 2016)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

deletion

X:15,092,359..15,109,621 [+]

Comment:

Deletion resulting from the Imprecise excision of P{EPgy2}Rab3-GEF^EY06511 removes most of the coding region of Rab3-GEF including the 5'UTR and ATG. Coordinates of deletion inferred from reported boundary sequences.

(Bae et al., 2016, Graf, 2016.6.25)

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 | third instar larval stage

(Bae et al., 2016)

abnormal neuroanatomy | third instar larval stage (with Df(1)ED7289)

(Bae et al., 2016)

abnormal neurophysiology | third instar larval stage (with Df(1)ED7289)

(Bae et al., 2016)

fertile

(Bae et al., 2016)

viable

(Bae et al., 2016)

Phenotype Manifest In

embryonic/larval neuromuscular junction | third instar larval stage

(Bae et al., 2016)

embryonic/larval neuromuscular junction | third instar larval stage (with Df(1)ED7289)

(Bae et al., 2016)

Detailed Description

Statement

Reference

At the neuromuscular junction (NMJ) of Rab3-GEF^SC225/Rab3-GEF^SC225 or Rab3-GEF^SC225/Df(1)ED7289 third instar larvae, there is a significant decrease in the percentage of GluRIIC clusters apposed by brp active zones and a significant increase in brp area. Calcium channel distribution is also altered at the NMJ in Rab3-GEF^SC225/Df(1)ED7289 third instar larvae (fail to accumulate opposite GluRIIC clusters and are significantly larger than wild type). Phenotypes are similar from those seen in Rab3^rup/Df(2R)ED2076 larvae.

Voltage-clamp recordings from muscles at the NMJ of Rab3-GEF^SC225/Df(1)ED7289 third instar larvae reveal that spontaneous miniature EJC amplitude and EJC amplitude evoked by low frequency stimuli (in 0.4mM Ca[2+]) is similar to wild type; however, short-term facilitation is nearly absent in Rab3-GEF^SC225/Df(1)ED7289 larvae (occurs in wild type with high-frequency stimulation along with low extracellular calcium).

(Bae et al., 2016)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT Enhanced by

Statement

Reference

Rab3-GEF^SC225 has abnormal neuroanatomy | third instar larval stage phenotype, non-enhanceable by Df(2R)ED2076/Rab3^rup

(Bae et al., 2016)

NOT suppressed by

Statement

Reference

Rab3-GEF^SC225 has abnormal neuroanatomy | third instar larval stage phenotype, non-suppressible by Scer\GAL4^VGlut.PD/Rab3^UAS.cCa

(Bae et al., 2016)

Rab3-GEF^SC225 has abnormal neuroanatomy | third instar larval stage phenotype, non-suppressible by Rab3^Q80L.UAS/Scer\GAL4^VGlut.PD

(Bae et al., 2016)

NOT Enhancer of

Statement

Reference

Rab3-GEF^SC225/Rab3-GEF^SC225 is a non-enhancer of abnormal neuroanatomy | third instar larval stage phenotype of Df(2R)ED2076/Rab3^rup

(Bae et al., 2016)

Phenotype Manifest In

NOT Enhanced by

Statement

Reference

Rab3-GEF^SC225 has embryonic/larval neuromuscular junction | third instar larval stage phenotype, non-enhanceable by Df(2R)ED2076/Rab3^rup

(Bae et al., 2016)

NOT suppressed by

Statement

Reference

Rab3-GEF^SC225 has embryonic/larval neuromuscular junction | third instar larval stage phenotype, non-suppressible by Scer\GAL4^VGlut.PD/Rab3^UAS.cCa

(Bae et al., 2016)

Rab3-GEF^SC225 has embryonic/larval neuromuscular junction | third instar larval stage phenotype, non-suppressible by Rab3^Q80L.UAS/Scer\GAL4^VGlut.PD

(Bae et al., 2016)

NOT Enhancer of

Statement

Reference

Rab3-GEF^SC225/Rab3-GEF^SC225 is a non-enhancer of embryonic/larval neuromuscular junction | third instar larval stage phenotype of Df(2R)ED2076/Rab3^rup

(Bae et al., 2016)

Additional Comments

Genetic Interactions

Statement

Reference

Rab3-GEF^SC225/Rab3-GEF^SC225;Rab3^rup/Df(2R)ED2076 double mutant larvae show similar active zone phenotypes as seen at the NMJ in Rab3-GEF^SC225/Rab3-GEF^SC225 or Rab3^rup/Df(2R)ED2076 alone.

Expression of Rab3^Scer\UAS.cCa or Rab3^{Q80L.Scer\UAS} driven by Scer\GAL4^VGlut.PD does not suppress active zone phenotypes seen at the NMJ of Rab3-GEF^SC225/Df(1)ED7289 third instar larvae.

(Bae et al., 2016)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Rescued by

Rab3-GEF^SC225/Df(1)ED7289 is rescued by Rab3-GEF^UAS.cBa/Scer\GAL4^VGlut.PD

(Bae et al., 2016)

Comments

Scer\GAL4^VGlut.PD-driven expression of Rab3-GEF^Scer\UAS.cBa rescues active zone and short-term facilitation defects seen at the neuromuscular junction of Rab3-GEF^SC225/Df(1)ED7289 third instar larvae.

(Bae et al., 2016)

Images (0)

Mutant

Wild-type

Stocks (1)

Bloomington

78052

y¹ w^67c23 Rab3-GEF^SC225

Notes on Origin

Discoverer

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

Rab3-GEF^SC225

rab3-GEF^SC225

(Bae et al., 2016)

Name Synonyms

Secondary FlyBase IDs

References (2)

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