Gars - SNV Details



 Human Rare Diseases 
Autosomal dominant Charcot-Marie-Tooth disease type 2D
Distal hereditary motor neuropathy type 5

 Gene Information 
Gene Name Gars
Old Gene Names for Gars Sgrp23 , Gena201
Gene Description glycyl-tRNA synthetase [Source:MGI Symbol;Acc:MGI:2449057]
MGI phenotype A dominant mutation results in sensory and motor axon degeneration in affected mice, with defects in synaptic transmission, nerve conduction and premature death. A loss of function mutation results in embryonic lethality in homozygous mice, and no discernable phenotype in heterozygous mice.
Uniprot Name
CCDS Name
Gene GO
mitochondrion; cytoplasm; aminoacyl-tRNA ligase activity; protein binding; glycyl-tRNA aminoacylation; tRNA aminoacylation for protein translation; protein dimerization activity; nucleotide binding; diadenosine tetraphosphate biosynthetic process; ATP binding; glycine-tRNA ligase activity; secretory granule
Homolog in other species GARS
Omim http://omim.org/entry/600287
Immgen Expression
MEDIAN(HIGH IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL)
Gnf Expression
HIGH(HIGHER IN IMM.G1, IMM.G3, AND EMB GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000029777
Chromosome 6
Coordinate 55,065,467     (Assembly: GRCm38)    
Ref Base T
Codon Change gTa/gCa
Var Base C
Zygosity Heterozygous
Read Depth 25
Allele Frequency
T:R0.40
C:V0.60
Amino Acid Position 395
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL02371
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 0.09
Polyphen Prediction Benign
Sift Score 0.03
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000003572:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Glycyl-tRNA synthetase, alpha2 dimer tRNA-synt_gly IPR002315 ENSMUSP00000003572 TIGRfam 111
698 Description available Search pathways
Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain aa-tRNA-synt_IIb_cons-dom IPR002314 ENSMUSP00000003572 Pfam 147
441 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved