FlyBase Allele Report: Dmel\Rac1[Y64D.UAS]

FB2025_01 , released February 20, 2025

FB2025_01 , released February 20, 2025

Allele: Dmel\Rac1^Y64D.UAS

General Information

Symbol

Dmel\Rac1^Y64D.UAS

Species

D. melanogaster

Name

FlyBase ID

FBal0386960

Feature type

allele

Associated gene

Associated Insertion(s)

Carried in Construct

P{UAS-Rac1.Y64D}

Key Links

Genomic Maps

Transgenic product class

missense_variant

(Banka et al., 2022)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Banka et al., 2022)

Mutagen

in vitro construct

(Banka et al., 2022)

Progenitor genotype

Carried in construct

P{UAS-Rac1.Y64D}

Cytology

Description

UASp regulatory sequences drive expression of Rac1 carrying a Y64D amino acid substitution. The same Y64D change in the orthologous human RAC1 gene is a variant identified in patients with neurodevelopmental disorders.

(Banka et al., 2022)

Allele components

Component

Use(s)

Regulatory region(s)

binary expression system - regulatory region

Encoded product / tool

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

3L:1,302,157..1,302,157 [-]

Nucleotide change:

T1302157G

Amino acid change:

Y64D | Rac1-PA; Y64D | Rac1-PB

Reported amino acid change:

Y64D

Comment:

Analogous Y64D mutation in human RAC1 implicated in intellectual disability, autosomal dominant 48; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Banka et al., 2022)

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 autosomal dominant intellectual developmental disorder 48

CEC

(Banka et al., 2022)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of autosomal dominant intellectual developmental disorder 48

is ameliorated by Cyfip^HMS01754

(Banka et al., 2022)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Banka et al., 2022)

RAC1:p.Tyr64Asp

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

intellectual disability, autosomal dominant 48

External database links

ClinVar: 445283

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy | embryonic stage, with Scer\GAL4^elav.PLu

(Banka et al., 2022)

abnormal neuroanatomy | larval stage, with Scer\GAL4^ppk.PG

(Banka et al., 2022)

decreased size, with Scer\GAL4^elav.PLu

(Banka et al., 2022)

Phenotype Manifest In

axon | embryonic stage, with Scer\GAL4^elav.PLu

(Banka et al., 2022)

embryonic ventral nerve cord, with Scer\GAL4^elav.PLu

(Banka et al., 2022)

filopodium | increased number, with Scer\GAL4^elav.PLu

(Banka et al., 2022)

larval multidendritic class IV neuron | larval stage, with Scer\GAL4^ppk.PG

(Banka et al., 2022)

Detailed Description

Statement

Reference

External Data

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Rac1^Y64D.UAS, Scer\GAL4^ppk.PG has abnormal neuroanatomy | larval stage phenotype, suppressible by Cyfip^HMS01754, Scer\GAL4^ppk.PG

(Banka et al., 2022)

Phenotype Manifest In

Suppressed by

Statement

Reference

Rac1^Y64D.UAS, Scer\GAL4^ppk.PG has larval multidendritic class IV neuron | larval stage phenotype, suppressible by Cyfip^HMS01754, Scer\GAL4^ppk.PG

(Banka et al., 2022)

Additional Comments

Genetic Interactions

Statement

Reference

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

Rac1^Y64D.UAS

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections