FB2026_02 , released June 18, 2026
Allele: Dmel\CG4743P223L
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General Information
Symbol
Dmel\CG4743P223L
Species
D. melanogaster
Name
FlyBase ID
FBal0367251
Feature type
allele
Associated gene
Dmel\CG4743
Associated Insertion(s)
TI{TI}CG4743P223L
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
phiC31 integrase
(Schober et al., 2021)
Progenitor genotype
TI{TI}CG4743KO
(Schober et al., 2021)
Associated Insertion(s)
TI{TI}CG4743P223L
Cytology
Description

Re-integration of sequence using the attP site present in TI{TI}CG4743KO (after first removing the loxP cassette), reconstituting a mutant CG4743 transcription unit at the native locus; contains a P223L amino acid substitution (this mutation is equivalent to a variant identified in the orthologous human SLC25A26 gene in a patient with severe mitochondrial disease). In addition, a loxP cassette containing a wGMR.PHb marker has been inserted downstream of the CG4743 coding sequence and the attP site has been converted into an attR site (this is located upstream of the CG4743 coding sequence).

(Schober et al., 2021)
Allele components
Component
Use(s)
Also carries
loxP
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3R:25,679,704..25,679,704 [-]
Nucleotide change:

C25679704T

Amino acid change:

P223L | CG4743-PA

Reported amino acid change:

P223L

Comment:

Analogous P199L mutation in human SLC25A26 implicated in combined oxidative phosphorylation deficiency 28; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Schober 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 )
      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.
      (Schober et al., 2021)
      SLC25A26:p.Pro199Leu
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      SLC25A26:p.Pro111Leu
      Associated human disease model(s)
      External database links
      ClinVar: 222008
      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 (1)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      CG4743P223L
      Name Synonyms
      Secondary FlyBase IDs
        References (2)