FB2026_02 , released June 18, 2026
Allele: Dmel\CG7049R312C
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General Information
Symbol
Dmel\CG7049R312C
Species
D. melanogaster
Name
FlyBase ID
FBal0346302
Feature type
allele
Associated gene
Dmel\CG7049
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Mast and DiPrimio, 2019.3.12)
gene targeting by homologous recombination
(Mast and DiPrimio, 2019.3.12)
Progenitor genotype
Cytology
Description

Amino acid replacement R312C in CG7049. This change is designed to mimic the R345C change found in human SUMF1 in patients with Multiple Sulfatase Deficiency. A Disc\RFP3xP3.cUa marker flanked by PBac transposable element ends was originally introduced as part of the mutagenesis, but this has been removed via PBac transposition; this leaves a TTAA which changes GTCAAC to GTTAAC in a coding region but doesn't change the amino acid sequence.

(Mast and DiPrimio, 2019.3.12)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
MNV
3L:175,268..175,270 [-]
Nucleotide change:

AGG175270TGY

Reported amino acid change:

R312C

Comment:

R312CAnalogous to R345C mutation in human SUMF1 implicated in Multiple Sulfatase Deficiency. A Disc\RFP3xP3.cUa marker flanked by PBac transposable element ends was originally introduced as part of the mutagenesis, but this has been removed via PBac transposition; this leaves a TTAA which changes GTCAAC to GTTAAC in a coding region but doesn't change the amino acid sequence. R (AGG) to C (TGY) change requires subsitution at two bases in the codon so the mutation was mapped to the R312 codon. Site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Mast and DiPrimio, 2019.3.12)
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.
      (Mast and DiPrimio, 2019.3.12)
      SUMF1:p.Arg345Cys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      SUMF1:p.Arg320Cys
      SUMF1:p.Arg325Cys
      Associated human disease model(s)
      External database links
      ClinVar: SUMF1_2675
      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 (1)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      CG7049R312C
      (Mast and DiPrimio, 2019.3.12)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)