Incidental Mutation 'IGL02104:Gars1'
ID 279874
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 # IGL02104
Quality Score
Status
Chromosome 6
Chromosomal Location 55014992-55056485 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55054682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 663 (D663G)
Ref Sequence ENSEMBL: ENSMUSP00000003572 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003572]
AlphaFold Q9CZD3
Predicted Effect probably damaging
Transcript: ENSMUST00000003572
AA Change: D663G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003572
Gene: ENSMUSG00000029777
AA Change: D663G

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
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933440M02Rik T C 7: 124,930,714 (GRCm39) noncoding transcript Het
Abcb5 T A 12: 118,904,415 (GRCm39) Q125L probably damaging Het
Acap3 G A 4: 155,989,542 (GRCm39) R662H probably damaging Het
Aox4 T A 1: 58,275,816 (GRCm39) probably benign Het
Aqp6 T C 15: 99,502,159 (GRCm39) S285P probably benign Het
Arhgef5 A T 6: 43,249,345 (GRCm39) Q32L probably damaging Het
B3gnt6 G T 7: 97,843,308 (GRCm39) D217E probably damaging Het
Cfap251 T A 5: 123,440,761 (GRCm39) L1106* probably null Het
Chd6 T C 2: 160,819,432 (GRCm39) I1338V probably benign Het
Clic6 A G 16: 92,295,367 (GRCm39) E9G possibly damaging Het
Col11a1 T A 3: 113,975,046 (GRCm39) probably null Het
Dcdc2b T A 4: 129,504,867 (GRCm39) D88V probably benign Het
Dis3l T A 9: 64,217,611 (GRCm39) K791N possibly damaging Het
Dmxl2 A T 9: 54,311,299 (GRCm39) Y1008* probably null Het
Dnah11 A G 12: 118,156,125 (GRCm39) V175A probably benign Het
Efl1 A G 7: 82,307,263 (GRCm39) probably null Het
Fam117b C T 1: 59,988,278 (GRCm39) T219I probably benign Het
Fgf21 T A 7: 45,264,648 (GRCm39) Q28L probably benign Het
Folh1 T C 7: 86,393,638 (GRCm39) Q391R possibly damaging Het
Lats2 A G 14: 57,971,469 (GRCm39) F69L probably damaging Het
Lrp2 C T 2: 69,340,762 (GRCm39) V1038M probably damaging Het
Map3k1 A T 13: 111,892,777 (GRCm39) V826E probably damaging Het
Mapkap1 T A 2: 34,513,482 (GRCm39) Y497* probably null Het
Mast3 T C 8: 71,240,550 (GRCm39) I296V possibly damaging Het
Mon1a T G 9: 107,778,814 (GRCm39) L346R probably damaging Het
Mphosph8 T C 14: 56,912,036 (GRCm39) L353S probably benign Het
Muc5ac T C 7: 141,364,815 (GRCm39) Y2634H probably damaging Het
Mylk A G 16: 34,635,805 (GRCm39) T9A probably benign Het
Or10j2 T C 1: 173,098,603 (GRCm39) V287A probably damaging Het
Or14j8 A C 17: 38,263,182 (GRCm39) H244Q probably damaging Het
Or55b3 C A 7: 102,126,544 (GRCm39) V178F probably damaging Het
Or5an6 T A 19: 12,372,263 (GRCm39) V212D probably damaging Het
Or5b122 T A 19: 13,562,968 (GRCm39) M57K probably damaging Het
Or5m8 G T 2: 85,822,730 (GRCm39) D190Y probably damaging Het
Or7g25 A T 9: 19,160,166 (GRCm39) H176Q probably benign Het
Pabpc2 A C 18: 39,907,936 (GRCm39) Q400H possibly damaging Het
Pigg A G 5: 108,489,963 (GRCm39) Y856C probably damaging Het
Plekhn1 A T 4: 156,306,865 (GRCm39) V508E probably benign Het
Pom121l2 C A 13: 22,166,445 (GRCm39) H239N possibly damaging Het
Prdm2 A G 4: 142,859,997 (GRCm39) S1098P probably benign Het
Rnf212 A G 5: 108,895,306 (GRCm39) I41T possibly damaging Het
Rngtt A G 4: 33,320,517 (GRCm39) probably null Het
Rpn2 C T 2: 157,163,747 (GRCm39) T613M probably damaging Het
Scd4 G T 19: 44,333,186 (GRCm39) V304F possibly damaging Het
Sez6l A G 5: 112,574,630 (GRCm39) probably benign Het
Shroom3 A G 5: 93,088,248 (GRCm39) R158G probably benign Het
Stil T C 4: 114,898,679 (GRCm39) L1103P probably damaging Het
Tanc2 T C 11: 105,670,959 (GRCm39) probably benign Het
Tmc1 C T 19: 20,809,818 (GRCm39) D255N probably benign Het
Trank1 C A 9: 111,219,780 (GRCm39) D2172E possibly damaging Het
Tyro3 G A 2: 119,643,681 (GRCm39) R718H probably damaging Het
Vamp2 C A 11: 68,981,483 (GRCm39) F114L 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
IGL01514:Gars1 APN 6 55,042,505 (GRCm39) missense probably benign 0.01
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 2015-04-16