Incidental Mutation 'IGL01514:Gars1'
ID 89322
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gars1
Ensembl Gene ENSMUSG00000029777
Gene Name glycyl-tRNA synthetase 1
Synonyms Gena201, Sgrp23, Gars, GENA202
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01514
Quality Score
Chromosome 6
Chromosomal Location 55014992-55056485 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55042505 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 413 (S413T)
Ref Sequence ENSEMBL: ENSMUSP00000003572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003572]
AlphaFold Q9CZD3
Predicted Effect probably benign
Transcript: ENSMUST00000003572
AA Change: S413T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000003572
Gene: ENSMUSG00000029777
AA Change: S413T

low complexity region 4 27 N/A INTRINSIC
low complexity region 31 46 N/A INTRINSIC
WHEP-TRS 57 112 1.58e-8 SMART
Pfam:tRNA-synt_2b 281 582 2.1e-10 PFAM
Pfam:HGTP_anticodon 605 699 7.7e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203334
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs A G 2: 93,669,587 (GRCm39) probably benign Het
Actl7b T C 4: 56,740,677 (GRCm39) Y227C probably damaging Het
Adam26a A T 8: 44,021,485 (GRCm39) H668Q probably benign Het
Alcam A T 16: 52,094,653 (GRCm39) probably benign Het
Aldh3a2 C T 11: 61,144,624 (GRCm39) probably benign Het
Atp11b G T 3: 35,891,130 (GRCm39) G801V probably damaging Het
C3 G A 17: 57,522,866 (GRCm39) T1006I probably benign Het
Cacna2d4 T C 6: 119,259,134 (GRCm39) probably benign Het
Cldn34b3 A T X: 75,310,680 (GRCm39) I83F probably damaging Het
Clec2g G A 6: 128,925,736 (GRCm39) M48I probably benign Het
Coch A G 12: 51,650,136 (GRCm39) D375G probably damaging Het
Erbb2 C T 11: 98,323,745 (GRCm39) T653I possibly damaging Het
Etv3 A G 3: 87,443,025 (GRCm39) H203R possibly damaging Het
Fat4 A G 3: 39,003,683 (GRCm39) R1801G possibly damaging Het
Gnat1 G A 9: 107,553,500 (GRCm39) R253C possibly damaging Het
Hook3 A T 8: 26,578,217 (GRCm39) L91I possibly damaging Het
Lrp8 T C 4: 107,712,881 (GRCm39) Y377H probably damaging Het
Lztr1 G A 16: 17,340,255 (GRCm39) probably null Het
Malt1 A G 18: 65,609,471 (GRCm39) D825G possibly damaging Het
Nlrp9b T C 7: 19,779,859 (GRCm39) probably null Het
Or1x2 C T 11: 50,918,416 (GRCm39) R196* probably null Het
Or2v2 A T 11: 49,004,403 (GRCm39) I50N probably damaging Het
Orc1 A G 4: 108,459,249 (GRCm39) R473G probably damaging Het
Pard6g G A 18: 80,160,661 (GRCm39) R258H probably damaging Het
Pkdrej T C 15: 85,702,264 (GRCm39) D1224G possibly damaging Het
Polr1e A G 4: 45,018,723 (GRCm39) T18A probably benign Het
Pycr3 T C 15: 75,788,853 (GRCm39) T240A probably damaging Het
Ralgapa1 C A 12: 55,766,442 (GRCm39) G1284V probably damaging Het
Rcl1 T C 19: 29,120,698 (GRCm39) probably benign Het
Sec24c C T 14: 20,732,839 (GRCm39) T134I possibly damaging Het
Sis A G 3: 72,843,253 (GRCm39) probably benign Het
Susd5 A C 9: 113,897,947 (GRCm39) probably benign Het
Tlk1 T C 2: 70,582,610 (GRCm39) N173S probably benign Het
Uroc1 T C 6: 90,340,082 (GRCm39) probably benign Het
Other mutations in Gars1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00818:Gars1 APN 6 55,027,338 (GRCm39) missense probably damaging 1.00
IGL01084:Gars1 APN 6 55,032,812 (GRCm39) missense probably benign
IGL02104:Gars1 APN 6 55,054,682 (GRCm39) missense probably damaging 1.00
IGL02349:Gars1 APN 6 55,025,049 (GRCm39) splice site probably benign
IGL02371:Gars1 APN 6 55,042,452 (GRCm39) missense probably benign 0.08
IGL02932:Gars1 APN 6 55,037,929 (GRCm39) missense probably damaging 1.00
BB006:Gars1 UTSW 6 55,040,102 (GRCm39) missense probably damaging 1.00
BB016:Gars1 UTSW 6 55,040,102 (GRCm39) missense probably damaging 1.00
IGL02799:Gars1 UTSW 6 55,040,084 (GRCm39) missense probably damaging 1.00
R0637:Gars1 UTSW 6 55,046,472 (GRCm39) critical splice donor site probably null
R0762:Gars1 UTSW 6 55,054,565 (GRCm39) splice site probably null
R1451:Gars1 UTSW 6 55,030,108 (GRCm39) splice site probably benign
R1846:Gars1 UTSW 6 55,040,153 (GRCm39) missense probably benign 0.05
R1988:Gars1 UTSW 6 55,054,757 (GRCm39) missense probably null 0.00
R2033:Gars1 UTSW 6 55,054,708 (GRCm39) missense probably benign 0.02
R2566:Gars1 UTSW 6 55,042,548 (GRCm39) missense probably damaging 1.00
R4706:Gars1 UTSW 6 55,046,363 (GRCm39) missense probably damaging 0.99
R4854:Gars1 UTSW 6 55,023,403 (GRCm39) missense probably damaging 0.99
R5055:Gars1 UTSW 6 55,045,077 (GRCm39) missense probably damaging 1.00
R5558:Gars1 UTSW 6 55,042,592 (GRCm39) missense probably damaging 1.00
R6306:Gars1 UTSW 6 55,032,809 (GRCm39) missense probably damaging 1.00
R6821:Gars1 UTSW 6 55,056,323 (GRCm39) missense probably benign 0.00
R7376:Gars1 UTSW 6 55,050,344 (GRCm39) missense probably benign 0.00
R7505:Gars1 UTSW 6 55,029,162 (GRCm39) missense probably benign 0.00
R7579:Gars1 UTSW 6 55,054,688 (GRCm39) missense probably damaging 1.00
R7605:Gars1 UTSW 6 55,054,735 (GRCm39) missense probably damaging 1.00
R7728:Gars1 UTSW 6 55,027,371 (GRCm39) missense probably damaging 1.00
R7929:Gars1 UTSW 6 55,040,102 (GRCm39) missense probably damaging 1.00
R8014:Gars1 UTSW 6 55,050,392 (GRCm39) missense probably benign
R8391:Gars1 UTSW 6 55,025,127 (GRCm39) missense probably damaging 1.00
R8418:Gars1 UTSW 6 55,042,446 (GRCm39) missense probably damaging 0.99
R8704:Gars1 UTSW 6 55,040,215 (GRCm39) missense probably damaging 0.98
R9350:Gars1 UTSW 6 55,029,249 (GRCm39) missense probably null 0.57
Posted On 2013-12-03