|Institutional Source||Beutler Lab|
|Gene Name||glycyl-tRNA synthetase|
|Synonyms||GENA202, Sgrp23, Gena201|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5055 (G1)|
|Chromosomal Location||55038007-55079500 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 55068092 bp|
|Amino Acid Change||Arginine to Histidine at position 454 (R454H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000003572 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000003572]|
|Predicted Effect||probably damaging
AA Change: R454H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R454H
|Meta Mutation Damage Score||0.8841|
|Coding Region Coverage||
|Validation Efficiency||98% (84/86)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes glycyl-tRNA synthetase, one of the aminoacyl-tRNA synthetases that charge tRNAs with their cognate amino acids. The encoded enzyme is an (alpha)2 dimer which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
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. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gars||
(F):5'- TGCCTCATGTATGAAACTGTTCTC -3'
(R):5'- TCATCTGGACAAAGTAGCCCC -3'
(F):5'- CTGCATGCTTTCATGAGC -3'
(R):5'- TCTTAAATAGACTCCAGGAAAGAAGC -3'