FB2025_01 , released February 20, 2025
Allele: Dmel\GlyRSG240R.UAS.Tag:HA
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General Information
Symbol
Dmel\GlyRSG240R.UAS.Tag:HA
Species
D. melanogaster
Name
FlyBase ID
FBal0297469
Feature type
allele
Associated gene
Dmel\GlyRS
Associated Insertion(s)
Carried in Construct
P{UAS-GlyRS.G240R.HA}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Ermanoska et al., 2014)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Ermanoska et al., 2014)
Mutagen
in vitro construct
(Ermanoska et al., 2014)
Progenitor genotype
GlyRSUAS.Tag:HA
(Ermanoska et al., 2014)
Carried in construct
P{UAS-GlyRS.G240R.HA}
Cytology
Description

A G240R amino acid replacement has been introduced into GlyRSUAS.Tag:HA.

(Ermanoska et al., 2014)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
GlyRS
Tagged with
Tag:HA
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3L:15,096,237..15,096,237 [+]
Nucleotide change:

G15096237M

Amino acid change:

G240R | GlyRS-PA; G326R | GlyRS-PB; G326R | GlyRS-PC

Reported amino acid change:

G326R

Comment:

Analogous mutation in human GARS implicated in Charcot-Marie-Tooth disease, type 2D; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Ermanoska 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 )
      Disease
      Evidence
      References
      model of  Charcot-Marie-Tooth disease
      CEA
      (Ermanoska et al., 2014)
      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.
      (Ermanoska et al., 2014)
      GARS1:p.Gly294Arg
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      GARS1:p.Gly240Arg
      Associated human disease model(s)
      External database links
      ClinVar: GARS1_9204
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Ubiquitous expression of Aats-glyG240R.Scer\UAS.T:Ivir\HA1 under the control of a strong Act5C driver (the P{Act5C-GAL4}25FO1 insertion of Scer\GAL4Act5C.PI) severely impairs fly development at the late pupal stage and yields only 3% escapers. No effect on viability is seen when Aats-glyG240R.Scer\UAS.T:Ivir\HA1 is expressed under the control of another insertion, P{Act5C-GAL4}17bFO1. Expression in the nervous system under the control of Scer\GAL4nSyb.PS has no effect on viability, but progressive climbing impairment is observed at days 20 and 30 compared to wild type.

      Flies expressing Aats-glyG240R.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4OK307 exhibit defects in the Giant Fibre-Trochanteral-Motoneuron-Tergotrochanteral Muscle (GF-TTMn-TTM) circuit. Upon GF stimulation, a mild but significant increase in response latencies is seen compared to controls. Following frequencies after a train of stimulations at 100 Hz are reduced compared to wild type.

      Expression of Aats-glyG240R.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4GMR.PU has no effect on ommatidial organisation.

      (Ermanoska 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
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (3)
      Reported As
      Symbol Synonym
      Aats-glyG240R.Scer\UAS.T:Ivir\HA1
      GlyRSG240R.Scer\UAS.T:Ivir\HA1
      GlyRSG240R.UAS.Tag:HA
      Name Synonyms
      Secondary FlyBase IDs
        References (3)