FB2025_01 , released February 20, 2025
Allele: Dmel\borR534W.UAS
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General Information
Symbol
Dmel\borR534W.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0341686
Feature type
allele
Associated gene
Dmel\bor
Associated Insertion(s)
Carried in Construct
PBac{UAS-bor.R534W}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Harel et al., 2016)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Harel et al., 2016)
Mutagen
in vitro construct
(Harel et al., 2016)
Progenitor genotype
Carried in construct
PBac{UAS-bor.R534W}
Cytology
Description

UASt regulates expression of bor (derived from the LD30988 clone in which an inherent mutation and insertion were first corrected) harboring a R534W mutation, equivalent to the c.1582C>T (p.Arg528Trp) variant in the human homolog, ATAD3A, that is associated with pathogenetic neurological symptoms.

(Harel et al., 2016)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
bor
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3R:16,262,111..16,262,113 [-]
Nucleotide change:

CGA16262113TGG

Reported nucleotide change:

CGA>TGG

Amino acid change:

R534W | bor-PA; R534W | bor-PB

Reported amino acid change:

R534W

Comment:

Analogous R528W mutation in human ATAD3A implicated in Harel-Yoon syndrome; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Harel et al., 2016)
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  Harel-Yoon syndrome
      CEC
      (Harel et al., 2016)
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Harel et al., 2016)
      ATAD3A:p.Arg576Trp
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      ATAD3A:p.Arg449Trp
      ATAD3A:p.Arg528Trp
      Associated human disease model(s)
      External database links
      ClinVar: ATAD3A_225696
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Third instar larvae expressing borR534W.UAS show significant decreases in the density and length of mitochondria in muscles (Scer\GAL4C57-driven expression), a significant decrease in the density of mitochondria in the ventral nerve cord and a significant decrease in the relative volume of mitochondria in axons and in synaptic boutons (Scer\GAL4Toll-6-D42-driven expression), as compared to controls.

      (Harel et al., 2016)
      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
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (1)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      borR534W.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)