FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\borL83V.UAS.Tag:V5
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General Information
Symbol
Dmel\borL83V.UAS.Tag:V5
Species
D. melanogaster
Name
FlyBase ID
FBal0368040
Feature type
allele
Associated gene
Dmel\bor
Associated Insertion(s)
Carried in Construct
PBac{UAS-bor.L83V.V5}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Yap et al., 2021)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Yap et al., 2021)
Mutagen
in vitro construct
(Yap et al., 2021)
Progenitor genotype
Carried in construct
PBac{UAS-bor.L83V.V5}
Cytology
Description

UASt regulatory sequences drive expression of bor, mutated to carry a L83V amino acid substitution. This change is equivalent to a L77V change in the orthologous human ATAD3A gene, an SNV identified in individuals with neurological and mitochondrial phenotypes. The coding sequence is tagged with Tag:V5.

(Yap et al., 2021)
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
point_mutation
3R:16,263,598..16,263,598 [-]
Nucleotide change:

C16263598G

Reported nucleotide change:

C?G

Amino acid change:

L83V | bor-PA; L83V | bor-PB

Reported amino acid change:

L83V

Comment:

Analogous mutation in human ATAD3A implicated in Harel-Yoon syndrome; mutation carried on in vitro construct.

(Yap et al., 2021)
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 with borT2A-Gal4, borc05496
      (Yap et al., 2021)
      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.
      (Yap et al., 2021)
      ATAD3A:p.Leu77Val
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 432628
      Comments concerning this variant
      Phenotypic 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
      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
      borL83V.UAS.Tag:V5
      Name Synonyms
      Secondary FlyBase IDs
        References (2)