FB2026_02 , released June 18, 2026
Allele: Dmel\SmnM194R.Tag:FLAG
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General Information
Symbol
Dmel\SmnM194R.Tag:FLAG
Species
D. melanogaster
Name
FlyBase ID
FBal0299582
Feature type
allele
Associated gene
Dmel\Smn
Associated Insertion(s)
Carried in Construct
M{Smn.M194R.FLAG}
Key Links
Genomic Maps

Transgenic product class
dominant_negative_variant
(Praveen et al., 2014)
missense_variant
(Praveen et al., 2014)
Mutagen
Nature of the Allele
Transgenic product class
dominant_negative_variant
(Praveen et al., 2014)
missense_variant
(Praveen et al., 2014)
Mutagen
in vitro construct
(Praveen et al., 2014)
Progenitor genotype
SmnTag:FLAG
(Praveen et al., 2014)
Carried in construct
M{Smn.M194R.FLAG}
Cytology
Description

A ~3kb fragment containing the entire Smn coding region is tagged with Tag:FLAG. The methionine at amino acid 194 has been replaced with arginine, producing a dominant negative allele.

(Praveen et al., 2014)
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
point_mutation
3L:16,580,602..16,580,602 [-]
Nucleotide change:

T16580602G

Amino acid change:

M194R | Smn-PA; M194R | Smn-PB

Reported amino acid change:

M194R

Comment:

Analogous mutation in human SMN1 implicated in spinal muscular atrophy, type I; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Praveen et al., 2014)
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.
      (Praveen et al., 2014)
      SMN1:p.Met263Arg
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      SMN1:p.Met231Arg
      Associated human disease model(s)
      External database links
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Larvae expressing SmnM194R.T:Zzzz\FLAG in the SmnX7 null mutant background die earlier than the null mutants alone, suggesting a dominant negative effect.

      (Praveen et al., 2014)
      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
      Partially rescues

      SmnTag:FLAG/SmnM194R.Tag:FLAG partially rescues SmnX7

      (Praveen et al., 2014)

      SmnM194R.Tag:FLAG/SmnG210V.Tag:FLAG partially rescues SmnX7

      (Praveen et al., 2014)
      Fails to rescue

      SmnM194R.Tag:FLAG fails to rescue SmnX7

      (Gupta et al., 2021)

      SmnY203C.Tag:FLAG/SmnM194R.Tag:FLAG fails to rescue SmnX7

      (Praveen et al., 2014)

      SmnM194R.Tag:FLAG fails to rescue SmnX7

      (Praveen et al., 2014)
      Comments

      Expression of one copy of SmnM194R.T:Zzzz\FLAG fails to rescue the larval lethality seen in homozygous SmnX7 mutants. The larvae are similar in size to SmnX7 mutants.

      Co-expression of one copy each of SmnT:Zzzz\FLAG and SmnM194R.T:Zzzz\FLAG partially rescues the larval lethality seen in homozygous SmnX7 mutants. The phenotype is intermediate between expressing one copy each of either transgene, indicating that SmnM194R.T:Zzzz\FLAG is having a dominant effect.

      Co-expression of one copy each of SmnG210V.T:Zzzz\FLAG and SmnM194R.T:Zzzz\FLAG partially rescues the larval lethality seen in homozygous SmnX7 mutants, resulting in a less severe phenotype than when SmnM194R.T:Zzzz\FLAG is expressed alone. No adults eclose but many animals reach the pupal stage.

      Co-expression of one copy each of SmnY203C.T:Zzzz\FLAG and SmnM194R.T:Zzzz\FLAG fails to rescue the larval lethality seen in homozygous SmnX7 mutants, as is seen when either transgene is expressed alone.

      (Praveen et al., 2014)
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (2)
      Reported As
      Symbol Synonym
      SmnM194R.T:Zzzz\FLAG
      SmnM194R.Tag:FLAG
      Name Synonyms
      Secondary FlyBase IDs
        References (4)