FB2025_01 , released February 20, 2025
Allele: Dmel\eyaL673R.UAS.Tag:FLAG
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General Information
Symbol
Dmel\eyaL673R.UAS.Tag:FLAG
Species
D. melanogaster
Name
FlyBase ID
FBal0179935
Feature type
allele
Associated gene
Dmel\eya
Associated Insertion(s)
Carried in Construct
P{UAS-eya.L673R}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Mutsuddi et al., 2005)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Mutsuddi et al., 2005)
Mutagen
in vitro construct
(Mutsuddi et al., 2005)
Progenitor genotype
Carried in construct
P{UAS-eya.L673R}
Cytology
Description

UASt regulatory sequences drive expression of a mutated form of eya (carries the amino acid replacement L673R) that is tagged at the N-terminal end with Tag:FLAG.

(Mutsuddi et al., 2005)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
eya
Tagged with
Tag:FLAG
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2L:6,528,351..6,528,351 [-]
Nucleotide change:

T6528351G

Reported nucleotide change:

T?G

Amino acid change:

L679R | eya-PA; L673R | eya-PB; L589R | eya-PC

Reported amino acid change:

L673R

Comment:

Analogous mutation in human EYA1 implicated in branchiootorenal syndrome 1; mutation carried on in vitro construct.

(Mutsuddi et al., 2005)
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  branchiootorenal syndrome
      CEA
      (Mutsuddi et al., 2005)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
       

      The L673R mutation is equivalent to the L505R mutation associated with branchiootorenal syndrome in humans, and mutations in the same gene have been associated with ocular defects. Eye defects are seen in flies when eyaL673R.Scer\UAS.T:Zzzz\FLAG is expressed in a eya2 mutant background.

      (Mutsuddi et al., 2005)
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Mutsuddi et al., 2005)
      EYA1:p.Leu505Arg
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      EYA1:p.Leu472Arg
      Associated human disease model(s)
      External database links
      ClinVar: EYA1_7941
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of eyaL673R.Scer\UAS.T:Zzzz\FLAG under the control of Scer\GAL4dpp.blk1 does not result in ectopic eye induction.

      (Mutsuddi et al., 2005)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Fails to rescue

      Scer\GAL4dpp.blk1/eyaL673R.UAS.Tag:FLAG fails to rescue eya2

      (Mutsuddi et al., 2005)
      Comments

      Expression of eyaL673R.Scer\UAS.T:Zzzz\FLAG under the control of Scer\GAL4dpp.blk1 does not rescue eye tissue formation in eya2 flies.

      (Mutsuddi et al., 2005)
      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
      eyaL673R.Scer\UAS.T:Zzzz\FLAG
      eyaL673R.UAS.Tag:FLAG
      Name Synonyms
      Secondary FlyBase IDs
        References (3)