FB2025_01 , released February 20, 2025
Allele: Dmel\GfrR125C.UAS.Tag:HA
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General Information
Symbol
Dmel\GfrR125C.UAS.Tag:HA
Species
D. melanogaster
Name
FlyBase ID
FBal0191324
Feature type
allele
Associated gene
Dmel\Gfr
Associated Insertion(s)
Carried in Construct
P{UAS-Gfr.R125C}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Ishikawa et al., 2005)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Ishikawa et al., 2005)
Mutagen
in vitro construct
(Ishikawa et al., 2005)
Progenitor genotype
GfrUAS.cIa
(Ishikawa et al., 2005)
Carried in construct
P{UAS-Gfr.R125C}
Cytology
Description

UAS regulatory sequences drive expression of full-length nac coding sequence (from the RE40567 cDNA clone), mutated to carry the R125C amino acid replacement; this mutation is equivalent to the R147C mutation in Hsap\SLC35C1 that is associated with congenital disorder of glycosylation IIc (CDG IIc). The coding sequence is tagged at the C-terminal end with Tag:HA.

(Ishikawa et al., 2005)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Gfr
Tagged with
Tag:HA
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3R:8,303,493..8,303,493 [-]
Nucleotide change:

C8303493T

Amino acid change:

R125C | nac-PA

Reported amino acid change:

R125C

Comment:

Analogous mutation in human SLC35C1 implicated in congenital disorder of glycosylation, type IIc; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Ishikawa et al., 2005)
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.
      (Ishikawa et al., 2005)
      SLC35C1:p.Arg147Cys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      SLC35C1:p.Arg134Cys
      Associated human disease model(s)
      External database links
      ClinVar: SLC35C1_4739
      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

      Scer\GAL4Act5C.PI/GfrR125C.UAS.Tag:HA fails to rescue GfrGfr-1

      (Ishikawa et al., 2005)
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (4)
      Reported As
      Symbol Synonym
      GfrR125C.Scer\UAS
      GfrR125C.UAS.Tag:HA
      nacR125C.Scer\UAS
      nacR125C.UAS.Tag:HA
      Name Synonyms
      Secondary FlyBase IDs
        References (2)