FB2025_01 , released February 20, 2025
Allele: Dmel\SmnY204R.v.Tag:FLAG
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General Information
Symbol
Dmel\SmnY204R.v.Tag:FLAG
Species
D. melanogaster
Name
FlyBase ID
FBal0370990
Feature type
allele
Associated gene
Dmel\Smn
Associated Insertion(s)
Carried in Construct
M{FLAG-vSmn.Y204R}
Key Links
Genomic Maps

Transgenic product class
inframe_insertion
(Gupta et al., 2021)
missense_variant
(Gupta et al., 2021)
Mutagen
Nature of the Allele
Transgenic product class
inframe_insertion
(Gupta et al., 2021)
missense_variant
(Gupta et al., 2021)
Mutagen
in vitro construct
(Gupta et al., 2021)
Progenitor genotype
Carried in construct
M{FLAG-vSmn.Y204R}
Cytology
Description

An approximately 3kb genomic fragment in which Smn is expressed under the control of its own promoter and flanking sequences. Key amino acid resides in the YG Box have been mutated to amino acids conserved in vertebrates, along with Y204R (an SMA-causing missense allele in humans), and an MGLR motif is inserted. The protein is tagged at the N-terminal end with three copies of the Tag:FLAG epitope.

(Gupta et al., 2021)
Allele components
Component
Use(s)
Regulatory region(s)
Smn
Encoded product / tool
Smn
Tagged with
Tag:FLAG
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
MNV
3L:16,580,572..16,580,573 [-]
Nucleotide change:

TA16580573CG

Amino acid change:

Y204R | Smn-PA; Y204R | Smn-PB

Reported amino acid change:

Y204R

Comment:

Analogous mutation in human SMN implicated in spinal muscular atrophy, SMN-related; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Gupta 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  childhood spinal muscular atrophy
      CEA with SmnX7
      (Gupta et al., 2021)
      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.
      (Gupta et al., 2021)
      SMN1:p.His273Arg
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      SMN1:p.His241Arg
      Associated human disease model(s)
      External database links
      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

      SmnY204R.v.Tag:FLAG fails to rescue SmnX7

      (Gupta et al., 2021)
      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
      SmnY204R.v.Tag:FLAG
      Name Synonyms
      Secondary FlyBase IDs
        References (2)