FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\IndyT245M.B.UAS.Tag:V5
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General Information
Symbol
Dmel\IndyT245M.B.UAS.Tag:V5
Species
D. melanogaster
Name
FlyBase ID
FBal0370796
Feature type
allele
Associated gene
Dmel\Indy
Associated Insertion(s)
Carried in Construct
P{UAS-Indy.T245M.B.V5}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Jeong et al., 2021)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Jeong et al., 2021)
Mutagen
in vitro construct
(Jeong et al., 2021)
Progenitor genotype
Carried in construct
P{UAS-Indy.T245M.B.V5}
Cytology
Description

UASt regulatory sequences drive expression of mutant Indy-PB cDNA (clone RH67364), tagged with Tag:V5. A T[ACT]>M[ATG] mutation was introduced to the cDNA to mimic the Kohlschutter-Tonz syndrome-associated 680C>T allele.

(Jeong et al., 2021)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Indy
Tagged with
Tag:V5
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
MNV
3L:18,830,644..18,830,645 [-]
Nucleotide change:

CT18830645TG

Amino acid change:

T227M | Indy-PA; T245M | Indy-PB; T227M | Indy-PC; T227M | Indy-PD

Reported amino acid change:

T245M

Comment:

Analogous mutation in human SLC13A5 implicated in Kohlschutter-Tonz syndrome; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Jeong 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  Kohlschutter-Tonz syndrome
      CEA
      (Jeong et al., 2021)
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      model of  Kohlschutter-Tonz syndrome
      is ameliorated by VGlut1UAS.cDa
      (Jeong et al., 2021)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Jeong et al., 2021)
      SLC13A5:p.Thr227Met
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      SLC13A5:p.Thr210Met
      SLC13A5:p.Thr184Met
      Associated human disease model(s)
      External database links
      ClinVar: 140753
      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
      IndyT245M.B.UAS.Tag:V5
      Name Synonyms
      Secondary FlyBase IDs
        References (2)