FB2026_02 , released June 18, 2026
Allele: Dmel\borR472C.UAS.Tag:V5
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General Information
Symbol
Dmel\borR472C.UAS.Tag:V5
Species
D. melanogaster
Name
FlyBase ID
FBal0401728
Feature type
allele
Associated gene
Dmel\bor
Associated Insertion(s)
Carried in Construct
PBac{UAS-bor.R472C.V5}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Muñoz-Oreja et al., 2024)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Muñoz-Oreja et al., 2024)
Mutagen
in vitro construct
(Muñoz-Oreja et al., 2024)
Progenitor genotype
Carried in construct
PBac{UAS-bor.R472C.V5}
Cytology
Description

UASt regulates expression of bor containing a R472C substitution (corresponding to the pathological variant R466C in human ATAD3A), tagged with Tag:V5.

(Muñoz-Oreja et al., 2024)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
bor
Tagged with
Tag:V5
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
MNV
3R:16,262,369..16,262,371 [-]
Nucleotide change:

CGT16262371TGC

Reported nucleotide change:

CGT?TGC

Amino acid change:

R472C | bor-PA; R472C | bor-PB

Reported amino acid change:

R472C

Comment:

Analogous mutation in human ATAD3A implicated in optic atrophy with neurological involvement; mutation carried on in vitro construct.

(Muñoz-Oreja et al., 2024)
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
      CEA
      (Muñoz-Oreja et al., 2024)
      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.
      (Muñoz-Oreja et al., 2024)
      ATAD3A:p.Arg466Cys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      ATAD3A:p.Arg465Cys
      ATAD3A:p.Arg387Cys
      ATAD3A:p.Arg514Cys
      Associated human disease model(s)
      External database links
      ClinVar: 2334917
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference
      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 (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      borR472C.UAS.Tag:V5
      Name Synonyms
      Secondary FlyBase IDs
        References (2)