FB2025_01 , released February 20, 2025
Allele: Dmel\BicDS103L.UAS.Tag:FLAG
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General Information
Symbol
Dmel\BicDS103L.UAS.Tag:FLAG
Species
D. melanogaster
Name
FlyBase ID
FBal0344234
Feature type
allele
Associated gene
Dmel\BicD
Associated Insertion(s)
Carried in Construct
P{UAS-BicD.S103L.FLAG}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Martinez Carrera et al., 2018)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Martinez Carrera et al., 2018)
Mutagen
in vitro construct
(Martinez Carrera et al., 2018)
Progenitor genotype
Carried in construct
P{UAS-BicD.S103L.FLAG}
Cytology
Description

UASt regulatory sequences drive expression of BicD that has been mutated to carry the S103L amino acid replacement (this is equivalent to p.BICD2Ser107Leu in the human BICD2 ortholog, which is identified as a frequent mutation in individuals with autosomal dominant lower extremity-predominant spinal muscular atrophy 2). The protein is tagged at the C-terminal end with one copy of Tag:FLAG.

(Martinez Carrera et al., 2018)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
BicD
Tagged with
Tag:FLAG
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2L:17,464,476..17,464,477 [-]
Nucleotide change:

TC17464477CT

Reported nucleotide change:

TCC>CTC

Amino acid change:

S103L | BicD-PA; S103L | BicD-PB; S103L | BicD-PC; S103L | BicD-PD

Reported amino acid change:

S103L

Comment:

Analogous S107L mutation in human BICD2 implicated in spinal muscular atrophy, lower extremity-predominant, 2; mutation carried on in vitro construct.

(Martinez Carrera et al., 2018)
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 ( 1 )
       

      The disease model is observed when BicDS103L.UAS.Tag:FLAG is expressed (in a BicDr5/+ background) in neuronal tissue (using Scer\GAL4nSyb.PS) but not when it is expressed in muscle (using Scer\GAL4Mef2.PR).

      (Martinez Carrera et al., 2018)
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Martinez Carrera et al., 2018)
      BICD2:p.Ser107Leu
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: BICD2_55857
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of BicDS103L.UAS.Tag:FLAG under the control of Scer\GAL4nSyb.PS significantly reduces adult male climbing ability in a BicDr5/+ background, but not in a +/+ background, compared to controls; there is also a significant decrease in larval neuromuscular junction size in a BicDr5/+ background, compared to controls.

      Expression of BicDS103L.UAS.Tag:FLAG under the control of Scer\GAL4Mef2.PR slightly, but significantly improves adult male climbing ability in a BicDr5/+ background, compared to controls.

      (Martinez Carrera et al., 2018)
      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 (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      BicDS103L.UAS.Tag:FLAG
      Name Synonyms
      Secondary FlyBase IDs
        References (2)