FB2025_01 , released February 20, 2025
Allele: Hsap\SLC35C1R147C.UAS.Tag:HA
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General Information
Symbol
Hsap\SLC35C1R147C.UAS.Tag:HA
Species
H. sapiens
Name
FlyBase ID
FBal0191249
Feature type
allele
Associated gene
Hsap\SLC35C1
Associated Insertion(s)
Carried in Construct
P{UAS-HsGfr.R147C}
Key Links
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
Hsap\SLC35C1UAS.cIa
(Ishikawa et al., 2005)
Carried in construct
P{UAS-HsGfr.R147C}
Cytology
Description

UAS regulatory sequences drive expression of Hsap\SLC35C1 coding sequence that has been mutated to carry the R147C mutation 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
Hsap\SLC35C1
Tagged with
Tag:HA
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
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
      NOT Suppressor of
      Statement
      Reference

      Scer\GAL4Act5C.PI/Hsap\SLC35C1R147C.UAS.Tag:HA is a non-suppressor of wing vein L3 | heat sensitive phenotype of GfrGfr-1

      (Ishikawa et al., 2005)

      Scer\GAL4Act5C.PI/Hsap\SLC35C1R147C.UAS.Tag:HA is a non-suppressor of wing vein L4 | heat sensitive phenotype of GfrGfr-1

      (Ishikawa et al., 2005)

      Scer\GAL4Act5C.PI/Hsap\SLC35C1R147C.UAS.Tag:HA is a non-suppressor of wing | heat sensitive phenotype of GfrGfr-1

      (Ishikawa et al., 2005)
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      Expression of Hsap\GfrR147C.Scer\UAS, under the control of Scer\GAL4Act5C.PI does not suppress the wing-notch phenotype observed in Gfr1 mutants.

      (Ishikawa et al., 2005)
      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 (3)
      Reported As
      Symbol Synonym
      Hsap\GfrR147C.Scer\UAS
      Hsap\SLC35C1R147C.Scer\UAS
      Hsap\SLC35C1R147C.UAS.Tag:HA
      Name Synonyms
      Secondary FlyBase IDs
        References (2)