FB2025_01 , released February 20, 2025
Allele: Dmel\SmnG210V.Tag:FLAG
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General Information
Symbol
Dmel\SmnG210V.Tag:FLAG
Species
D. melanogaster
Name
FlyBase ID
FBal0299585
Feature type
allele
Associated gene
Dmel\Smn
Associated Insertion(s)
Carried in Construct
M{Smn.G210V.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.G210V.FLAG}
Cytology
Description

A ~3kb fragment containing the entire Smn coding region is tagged with Tag:FLAG. The glycine at amino acid 210 has been replaced with valine, 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:16,580,554..16,580,554 [-]
Nucleotide change:

G16580554T

Amino acid change:

G210V | Smn-PA; G210V | Smn-PB

Reported amino acid change:

G210V

Comment:

Analogous mutation in human SMN1 implicated in spinal muscular atrophy, types I, II, and III; 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.Gly279Val
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      SMN1:p.Gly247Val
      Associated human disease model(s)
      External database links
      ClinVar: SMN1_9167
      Comments concerning this variant
      Phenotypic 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/SmnG210V.Tag:FLAG partially rescues SmnX7

      (Gupta et al., 2021)

      SmnG210V.Tag:FLAG partially rescues SmnX7

      (Gupta et al., 2021)

      SmnF70S.Tag:FLAG/SmnG210V.Tag:FLAG partially rescues SmnX7

      (Gupta et al., 2021)

      SmnV72G.Tag:FLAG/SmnG210V.Tag:FLAG partially rescues SmnX7

      (Gupta et al., 2021)

      SmnY203C.Tag:FLAG/SmnG210V.Tag:FLAG partially rescues SmnX7

      (Praveen et al., 2014)

      SmnI93F.Tag:FLAG/SmnG210V.Tag:FLAG partially rescues SmnX7

      (Praveen et al., 2014)

      SmnD20V.Tag:FLAG/SmnG210V.Tag:FLAG partially rescues SmnX7

      (Praveen et al., 2014)

      SmnG210V.Tag:FLAG/SmnG210C.Tag:FLAG partially rescues SmnX7

      (Praveen et al., 2014)

      SmnY107C.Tag:FLAG/SmnG210V.Tag:FLAG partially rescues SmnX7

      (Praveen et al., 2014)

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

      (Praveen et al., 2014)

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

      (Praveen et al., 2014)

      SmnG210V.Tag:FLAG partially rescues SmnX7

      (Praveen et al., 2014)

      SmnF70S.Tag:FLAG/SmnG210V.Tag:FLAG partially rescues SmnX7

      (Praveen et al., 2014)

      SmnV72G.Tag:FLAG/SmnG210V.Tag:FLAG partially rescues SmnX7

      (Praveen et al., 2014)
      Comments

      Expression of one copy of SmnG210V.T:Zzzz\FLAG partially rescues the larval lethality seen in homozygous SmnX7 mutants.

      Co-expression of one copy each of SmnT:Zzzz\FLAG and SmnG210V.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 SmnG210V.T:Zzzz\FLAG is having a dominant effect. A few adults eclose but most animals reach the pupal stage.

      Co-expression of one copy each of SmnG210V.T:Zzzz\FLAG and SmnI93F.T:Zzzz\FLAG partially rescues the larval lethality seen in homozygous SmnX7 mutants, but results in more severe phenotype than when SmnI93F.T:Zzzz\FLAG is expressed alone. A few adults eclose but most animals reach the pupal stage.

      Co-expression of one copy each of SmnG210V.T:Zzzz\FLAG and SmnF70S.T:Zzzz\FLAG partially rescues the larval lethality seen in homozygous SmnX7 mutants, but results in more severe phenotype than when SmnF70S.T:Zzzz\FLAG is expressed alone; a few adults eclose but most animals reach the pupal stage.

      Co-expression of one copy each of SmnG210V.T:Zzzz\FLAG and SmnD20V.T:Zzzz\FLAG partially rescues the larval lethality seen in homozygous SmnX7 mutants, but results in more severe phenotype than when SmnD20V.T:Zzzz\FLAG is expressed alone. A few adults eclose but most animals reach the pupal stage.

      Co-expression of one copy each of SmnG210V.T:Zzzz\FLAG and SmnG210C.T:Zzzz\FLAG partially rescues the larval lethality seen in homozygous SmnX7 mutants, but results in more severe phenotype than when SmnG210C.T:Zzzz\FLAG is expressed alone. A few adults eclose but most animals reach the pupal stage.

      Co-expression of one copy each of SmnG210V.T:Zzzz\FLAG and SmnY107C.T:Zzzz\FLAG partially rescues the larval lethality seen in homozygous SmnX7 mutants, but results in more severe phenotype than when SmnY107C.T:Zzzz\FLAG is expressed alone. A few adults eclose but most animals reach the pupal stage.

      Co-expression of one copy each of SmnG210V.T:Zzzz\FLAG and SmnV72G.T:Zzzz\FLAG partially rescues the larval lethality seen in homozygous SmnX7 mutants, resulting in a less severe phenotype than when SmnV72G.T:Zzzz\FLAG is expressed alone. A few adults eclose but most animals reach the pupal stage.

      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 SmnG210V.T:Zzzz\FLAG and SmnG206S.T:Zzzz\FLAG partially rescues the larval lethality seen in homozygous SmnX7 mutants, resulting in a less severe phenotype than when SmnG206S.T:Zzzz\FLAG is expressed alone. A few adults eclose but most animals reach the pupal stage.

      Co-expression of one copy each of SmnY203C.T:Zzzz\FLAG and SmnG210V.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 SmnY203C.T:Zzzz\FLAG is having a dominant effect. No adults eclose but many animals reach the pupal stage.

      (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
      SmnG210V.T:Zzzz\FLAG
      SmnG210V.Tag:FLAG
      Name Synonyms
      Secondary FlyBase IDs
        References (6)