FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Echs1T185A.gRes.Tag:V5
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General Information
Symbol
Dmel\Echs1T185A.gRes.Tag:V5
Species
D. melanogaster
Name
FlyBase ID
FBal0408050
Feature type
allele
Associated gene
Dmel\Echs1
Associated Insertion(s)
Carried in Construct
P{Echs1.gRes.T185A.V5}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Li et al., 2025)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Li et al., 2025)
Mutagen
in vitro construct
(Li et al., 2025)
Progenitor genotype
Carried in construct
P{Echs1.gRes.T185A.V5}
Cytology
Description

Genomic fragment that encompasses Echs1. The coding sequence has been mutated to carry a T185A amino acid substitution and is tagged at the C-terminal end with Tag:V5. The T185A change is equivalent to a change in the orthologous human ECHS1 gene that is associated with Leigh syndrome.

(Li et al., 2025)
Allele components
Component
Use(s)
Regulatory region(s)
Echs1
Encoded product / tool
Echs1
Tagged with
Tag:V5
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2R:13,853,450..13,853,450 [-]
Nucleotide change:

A13853450G

Amino acid change:

T185A | Echs1-PA; T185A | Echs1-PB

Reported amino acid change:

T185A

Comment:

Analogous mutation in human ECHS1 implicated in Leigh syndrome; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Li et al., 2025)
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 ( 0 )
      Disease
      Evidence
      References
      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.
      (Li et al., 2025)
      ECHS1:p.Thr180Ala
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 691284
      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
      Fails to rescue

      Echs1T185A.gRes.Tag:V5 fails to rescue Echs1mu11

      (Li et al., 2025)
      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
      Echs1T185A.gRes.Tag:V5
      Name Synonyms
      Secondary FlyBase IDs
        References (2)