Incidental Mutation 'R9350:Gars1'
ID 708011
Institutional Source Beutler Lab
Gene Symbol Gars1
Ensembl Gene ENSMUSG00000029777
Gene Name glycyl-tRNA synthetase 1
Synonyms Gena201, Sgrp23, Gars, GENA202
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9350 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 55014992-55056485 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 55029249 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 210 (A210T)
Ref Sequence ENSEMBL: ENSMUSP00000003572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003572]
AlphaFold Q9CZD3
Predicted Effect probably null
Transcript: ENSMUST00000003572
AA Change: A210T

PolyPhen 2 Score 0.567 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000003572
Gene: ENSMUSG00000029777
AA Change: A210T

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.7%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a T A 8: 44,022,669 (GRCm39) M274L probably benign Het
Adarb1 T A 10: 77,158,267 (GRCm39) N60I possibly damaging Het
Adgrv1 T A 13: 81,654,274 (GRCm39) N2919I probably damaging Het
Adora3 C T 3: 105,814,613 (GRCm39) T121M possibly damaging Het
Aoc1l3 A T 6: 48,965,260 (GRCm39) N423Y probably damaging Het
Arhgap19 A T 19: 41,761,566 (GRCm39) F466Y probably benign Het
Arih2 C G 9: 108,488,938 (GRCm39) R260P probably damaging Het
Atxn7l1 C T 12: 33,417,315 (GRCm39) T492I probably benign Het
B3galnt2 T C 13: 14,170,393 (GRCm39) S248P probably damaging Het
Casp2 T C 6: 42,246,332 (GRCm39) V230A probably benign Het
Creb3l1 C T 2: 91,822,231 (GRCm39) probably null Het
Ctnnbl1 G A 2: 157,651,445 (GRCm39) G240E possibly damaging Het
Dennd2c T C 3: 103,039,308 (GRCm39) L152P possibly damaging Het
Dhx16 T A 17: 36,200,203 (GRCm39) F874Y probably damaging Het
Dnah14 A T 1: 181,562,369 (GRCm39) Y2643F possibly damaging Het
Dnah2 C A 11: 69,384,073 (GRCm39) V1048L probably benign Het
Dnah7a T C 1: 53,436,307 (GRCm39) I4012V probably benign Het
Duox2 G A 2: 122,115,729 (GRCm39) R1002* probably null Het
Ears2 T A 7: 121,643,786 (GRCm39) K391* probably null Het
Eif4e T C 3: 138,259,470 (GRCm39) V176A probably benign Het
Erbb4 T A 1: 68,329,638 (GRCm39) I626L probably benign Het
Fam171a1 C T 2: 3,226,037 (GRCm39) T390I probably benign Het
Fam187b A G 7: 30,677,037 (GRCm39) E182G possibly damaging Het
Fam204a A G 19: 60,209,685 (GRCm39) V15A probably benign Het
Fscn3 C T 6: 28,430,432 (GRCm39) R201* probably null Het
Fzd6 A G 15: 38,895,043 (GRCm39) D403G probably damaging Het
Gmcl1 A T 6: 86,677,569 (GRCm39) I428N probably damaging Het
Gmip T A 8: 70,263,832 (GRCm39) I92N probably damaging Het
Il17rc G A 6: 113,456,048 (GRCm39) V298I probably damaging Het
Kifap3 A G 1: 163,610,630 (GRCm39) I37V probably benign Het
Marf1 T C 16: 13,963,789 (GRCm39) K505E probably damaging Het
Masp2 A T 4: 148,692,396 (GRCm39) probably null Het
Mmp15 G A 8: 96,093,002 (GRCm39) R127H probably damaging Het
Nrdc A G 4: 108,889,658 (GRCm39) T402A possibly damaging Het
Or10d1c A T 9: 38,894,081 (GRCm39) N86K probably benign Het
Or4k6 T A 14: 50,475,407 (GRCm39) I312L probably benign Het
Papln A T 12: 83,833,638 (GRCm39) I1185F probably damaging Het
Pcdhgb1 A G 18: 37,814,705 (GRCm39) N399D probably benign Het
Pcdhgb6 T A 18: 37,876,872 (GRCm39) S527T probably benign Het
Phkb T A 8: 86,743,493 (GRCm39) Y530* probably null Het
Pira2 A G 7: 3,844,030 (GRCm39) S581P probably benign Het
Pou4f3 A T 18: 42,528,329 (GRCm39) T91S probably benign Het
Prpf38a A G 4: 108,424,112 (GRCm39) S296P unknown Het
Rnf213 T C 11: 119,332,975 (GRCm39) V2729A Het
Rtl1 G A 12: 109,557,226 (GRCm39) Q1538* probably null Het
Sars2 T C 7: 28,447,273 (GRCm39) S224P probably damaging Het
Senp8 A G 9: 59,645,105 (GRCm39) V17A probably benign Het
Serpinb13 T A 1: 106,923,562 (GRCm39) L89* probably null Het
Sh3bp2 T A 5: 34,718,453 (GRCm39) probably null Het
Shank2 A G 7: 143,960,945 (GRCm39) T254A probably benign Het
Smdt1 A T 15: 82,231,504 (GRCm39) E12D probably benign Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Taar2 A G 10: 23,817,345 (GRCm39) N295S probably damaging Het
Trim24 A G 6: 37,892,208 (GRCm39) Q247R probably damaging Het
Trpc4 T A 3: 54,209,610 (GRCm39) N658K probably damaging Het
Ube2e1 T C 14: 18,284,348 (GRCm38) D137G probably damaging Het
Ubn1 T A 16: 4,899,422 (GRCm39) H1055Q probably benign Het
Vmn1r235 A G 17: 21,482,190 (GRCm39) T172A probably benign Het
Vps13d A G 4: 144,882,333 (GRCm39) F1087L Het
Xirp2 T C 2: 67,349,653 (GRCm39) S3283P probably damaging Het
Zeb2 C A 2: 44,887,158 (GRCm39) S633I possibly damaging 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
IGL01514:Gars1 APN 6 55,042,505 (GRCm39) missense probably benign 0.01
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
Predicted Primers PCR Primer
(F):5'- TTTCACTTGTGTGTCCCAGCAG -3'
(R):5'- CAGGGAGGTCTTGATGTTACC -3'

Sequencing Primer
(F):5'- GTGTGTCCCAGCAGAACATCATTTG -3'
(R):5'- AACCTCGTGCTGATGATGGAATC -3'
Posted On 2022-04-18