FB2025_01 , released February 20, 2025
Allele: Dmel\SmnV72G.Tag:FLAG
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General Information
Symbol
Dmel\SmnV72G.Tag:FLAG
Species
D. melanogaster
Name
FlyBase ID
FBal0299578
Feature type
allele
Associated gene
Dmel\Smn
Associated Insertion(s)
Carried in Construct
M{Smn.V72G.FLAG}
Also Known As
V72G
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.V72G.FLAG}
Cytology
Description

A ~3kb fragment containing the entire Smn coding region is tagged with Tag:FLAG. The valine at amino acid 72 has been replaced with glycine, producing a mild 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:16,580,968..16,580,968 [-]
Nucleotide change:

T16580968G

Amino acid change:

V72G | Smn-PA; V72G | Smn-PB

Reported amino acid change:

V72G

Comment:

Analogous mutation in human SMN1 implicated in spinal muscular atrophy, type II; 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.Val94Gly
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      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

      SmnV72G.Tag:FLAG/SmnY208C.Tag:FLAG partially rescues SmnX7

      (Gupta et al., 2021)

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

      (Gupta et al., 2021)

      SmnV72G.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/SmnV72G.Tag:FLAG partially rescues SmnX7

      (Praveen et al., 2014)

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

      (Praveen et al., 2014)

      SmnV72G.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 SmnV72G.T:Zzzz\FLAG overcomes the larval lethality seen in homozygous SmnX7 mutants but the resulting flies are pupal lethal.

      Co-expression of one copy each of SmnT:Zzzz\FLAG and SmnV72G.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, with many adults eclosing but fewer than when the wild type transgene is expressed alone. This indicates that SmnV72G.T:Zzzz\FLAG is having a mild dominant effect.

      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 SmnY203C.T:Zzzz\FLAG and SmnV72G.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 most animal 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
      SmnV72G.T:Zzzz\FLAG
      SmnV72G.Tag:FLAG
      Name Synonyms
      Secondary FlyBase IDs
        References (7)