FB2026_02 , released June 18, 2026
Allele: Dmel\PolG1Y873C
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General Information
Symbol
Dmel\PolG1Y873C
Species
D. melanogaster
Name
FlyBase ID
FBal0341818
Feature type
allele
Associated gene
Dmel\PolG1
Associated Insertion(s)
TI{TI}PolG1Y873C
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
phiC31 integrase
(Siibak et al., 2017)
Progenitor genotype
PolG1KO
(Siibak et al., 2017)
Associated Insertion(s)
TI{TI}PolG1Y873C
Cytology
Description

Amino acid replacement: Y873C.

(Siibak et al., 2017)

Mutated tam at the endogenous locus: carries a Y873C mutation that is the equivalent of p.Y955C in human POLG, which is associated with multi-systemic mitochondrial disease. Generated by re-integration of DNA into the attP site present in tamKO.

(Siibak et al., 2017)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2L:13,825,019..13,825,019 [-]
Nucleotide change:

A13825019G

Amino acid change:

Y873C | PolG1-PA

Reported amino acid change:

Y873C

Comment:

Analogous Y955C mutation in human POLG implicated in progressive external ophthalmoplegia with mtDNA deletions; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Siibak et al., 2017)
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  mitochondrial metabolism disease
      CEA
      (Siibak et al., 2017)
      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.
      (Siibak et al., 2017)
      POLG:p.Tyr955Cys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: POLG_13495
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      tamY873C heterozygotes do not show any obvious phenotypic abnormalities, eclose at comparable rates to controls despite a developmental delay, and have a normal lifespan. Hetero- or homozygotes do not present multiple mtDNA deletions, but homozygous larvae show severe mtDNA depletion.

      (Siibak et al., 2017)
      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 (2)
      Reported As
      Symbol Synonym
      PolG1Y873C
      tamY873C
      Name Synonyms
      Secondary FlyBase IDs
        References (2)