FB2025_01 , released February 20, 2025
Allele: Dmel\Spt-IC129Y.UAS.Tag:HA
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General Information
Symbol
Dmel\Spt-IC129Y.UAS.Tag:HA
Species
D. melanogaster
Name
FlyBase ID
FBal0346323
Feature type
allele
Associated gene
Dmel\Spt-I
Associated Insertion(s)
Carried in Construct
P{UAS-Spt-I.C129Y.HA}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Goyal et al., 2019)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Goyal et al., 2019)
Mutagen
in vitro construct
(Goyal et al., 2019)
Progenitor genotype
Carried in construct
P{UAS-Spt-I.C129Y.HA}
Cytology
Description

UAS regulates expression of Spt-I (using cDNA clone RE58623) containing a C129Y mutation homologous to a mutation in human SPT subunits SPTLC1/SPTLC2 associated with the HSAN-1 disorder, and tagged with 3x Tag:HA at the C-terminus.

(Goyal et al., 2019)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Spt-I
Tagged with
Tag:HA
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2R:13,169,288..13,169,289 [+]
Nucleotide change:

GC13169288AT

Reported nucleotide change:

TGC>TAT

Amino acid change:

C129Y | Spt-I-PA; C129Y | Spt-I-PB; C129Y | Spt-I-PC

Reported amino acid change:

C129Y

Comment:

Analogous C133Y mutation in human SPTLC1 implicated in neuropathy, hereditary sensory and autonomic, type IA; mutation carried on in vitro construct.

(Goyal et al., 2019)
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.
      (Goyal et al., 2019)
      SPTLC1:p.Cys133Tyr
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: SPTLC1_4800
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expressing Spt-IC129Y.UAS.Tag:HA under the control of Scer\GAL4Act5C.PI, but not Scer\GAL4ey-OK107, leads to a moderate prevalence of axon branch segregation defects of mushroom body neurons.

      (Goyal et al., 2019)
      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
      Spt-IC129Y.UAS.Tag:HA
      Name Synonyms
      Secondary FlyBase IDs
        References (2)