Incidental Mutation 'IGL01672:Rars1'
ID 103510
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rars1
Ensembl Gene ENSMUSG00000018848
Gene Name arginyl-tRNA synthetase 1
Synonyms Rars, 2610037E21Rik, 2610011N19Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # IGL01672
Quality Score
Status
Chromosome 11
Chromosomal Location 35699208-35725333 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35699380 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 638 (C638S)
Ref Sequence ENSEMBL: ENSMUSP00000018992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018992]
AlphaFold Q9D0I9
Predicted Effect probably damaging
Transcript: ENSMUST00000018992
AA Change: C638S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000018992
Gene: ENSMUSG00000018848
AA Change: C638S

DomainStartEndE-ValueType
Blast:Arg_tRNA_synt_N 16 60 6e-13 BLAST
Arg_tRNA_synt_N 78 166 1.6e-27 SMART
Pfam:tRNA-synt_1d 174 520 1.2e-164 PFAM
DALR_1 534 660 3.12e-30 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Arginyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,618,316 (GRCm39) E203G probably damaging Het
Ano1 G T 7: 144,209,412 (GRCm39) Q206K probably damaging Het
Ap4e1 T A 2: 126,894,109 (GRCm39) S620T probably damaging Het
Arfip1 A T 3: 84,455,339 (GRCm39) probably benign Het
Atp8a2 A T 14: 59,928,982 (GRCm39) M1024K probably benign Het
Brap T C 5: 121,816,908 (GRCm39) probably benign Het
Calcrl T A 2: 84,175,414 (GRCm39) T287S probably damaging Het
Clptm1l G A 13: 73,755,992 (GRCm39) probably null Het
Cpb1 T A 3: 20,329,585 (GRCm39) Q47L probably null Het
Cse1l T C 2: 166,771,887 (GRCm39) I402T probably damaging Het
Dnah17 A G 11: 117,932,986 (GRCm39) S3591P probably damaging Het
Dst T G 1: 34,264,774 (GRCm39) I2322S probably damaging Het
Dync2h1 G A 9: 7,118,884 (GRCm39) R2194* probably null Het
Ecpas A G 4: 58,814,041 (GRCm39) V1355A probably benign Het
Eno4 A G 19: 58,931,977 (GRCm39) N30S possibly damaging Het
Ero1a A C 14: 45,529,887 (GRCm39) S349A probably benign Het
Fat1 C T 8: 45,493,737 (GRCm39) T3938I probably benign Het
Focad T C 4: 88,278,827 (GRCm39) probably null Het
Gnai3 A T 3: 108,016,775 (GRCm39) I343N probably damaging Het
Golph3 T C 15: 12,349,643 (GRCm39) V221A probably benign Het
Gpr153 C A 4: 152,364,370 (GRCm39) S142* probably null Het
Itpr1 C A 6: 108,357,993 (GRCm39) Y557* probably null Het
Nat8f5 A G 6: 85,794,934 (GRCm39) Y9H probably damaging Het
Nbas T C 12: 13,429,650 (GRCm39) V1045A possibly damaging Het
Nol8 T C 13: 49,828,883 (GRCm39) V1047A possibly damaging Het
Or2t48 A C 11: 58,419,948 (GRCm39) L288R probably benign Het
Or5p1 T A 7: 107,916,725 (GRCm39) V208E probably benign Het
Osbpl1a G A 18: 12,899,881 (GRCm39) T178I probably damaging Het
Palld T A 8: 62,330,536 (GRCm39) I114F probably benign Het
Pcca A T 14: 122,927,557 (GRCm39) Y440F probably benign Het
Pclo T C 5: 14,728,549 (GRCm39) probably benign Het
Piwil1 T C 5: 128,827,037 (GRCm39) M599T possibly damaging Het
Pkd1l2 T A 8: 117,807,471 (GRCm39) Y189F possibly damaging Het
Plscr3 A G 11: 69,738,508 (GRCm39) K91R possibly damaging Het
Relb T A 7: 19,345,619 (GRCm39) H406L probably benign Het
Ros1 G T 10: 51,977,899 (GRCm39) T1449K possibly damaging Het
Samd3 A T 10: 26,146,067 (GRCm39) N364I possibly damaging Het
Scn2a T A 2: 65,582,278 (GRCm39) I1542N probably damaging Het
Sdk1 T A 5: 142,170,930 (GRCm39) M1931K probably benign Het
Sphk2 T C 7: 45,361,077 (GRCm39) D309G possibly damaging Het
Stil T C 4: 114,889,986 (GRCm39) S825P probably damaging Het
Swt1 C T 1: 151,270,359 (GRCm39) probably null Het
Virma C T 4: 11,527,792 (GRCm39) R1228C probably damaging Het
Xirp2 T A 2: 67,338,846 (GRCm39) H362Q probably benign Het
Zfp451 C A 1: 33,801,247 (GRCm39) M1056I probably benign Het
Zfp458 T A 13: 67,405,300 (GRCm39) M380L probably benign Het
Other mutations in Rars1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01568:Rars1 APN 11 35,716,808 (GRCm39) splice site probably benign
IGL01721:Rars1 APN 11 35,719,491 (GRCm39) missense probably damaging 1.00
IGL01887:Rars1 APN 11 35,716,822 (GRCm39) missense probably benign 0.03
IGL02605:Rars1 APN 11 35,715,353 (GRCm39) splice site probably benign
IGL03296:Rars1 APN 11 35,707,523 (GRCm39) nonsense probably null
IGL03354:Rars1 APN 11 35,715,302 (GRCm39) missense probably damaging 1.00
R0410:Rars1 UTSW 11 35,716,847 (GRCm39) missense probably damaging 1.00
R1193:Rars1 UTSW 11 35,700,153 (GRCm39) missense possibly damaging 0.92
R1222:Rars1 UTSW 11 35,700,567 (GRCm39) missense probably damaging 1.00
R1418:Rars1 UTSW 11 35,700,567 (GRCm39) missense probably damaging 1.00
R1562:Rars1 UTSW 11 35,711,921 (GRCm39) critical splice donor site probably null
R1768:Rars1 UTSW 11 35,700,465 (GRCm39) missense probably damaging 1.00
R1800:Rars1 UTSW 11 35,716,822 (GRCm39) missense probably benign 0.03
R2055:Rars1 UTSW 11 35,717,410 (GRCm39) splice site probably benign
R2294:Rars1 UTSW 11 35,708,363 (GRCm39) splice site probably benign
R4281:Rars1 UTSW 11 35,712,051 (GRCm39) missense probably damaging 1.00
R4807:Rars1 UTSW 11 35,699,973 (GRCm39) missense possibly damaging 0.81
R4898:Rars1 UTSW 11 35,699,385 (GRCm39) missense probably damaging 1.00
R5522:Rars1 UTSW 11 35,708,195 (GRCm39) nonsense probably null
R5907:Rars1 UTSW 11 35,719,475 (GRCm39) missense probably damaging 1.00
R6243:Rars1 UTSW 11 35,717,374 (GRCm39) missense possibly damaging 0.64
R6289:Rars1 UTSW 11 35,716,894 (GRCm39) missense probably damaging 1.00
R6550:Rars1 UTSW 11 35,724,010 (GRCm39) missense probably benign 0.00
R6889:Rars1 UTSW 11 35,699,313 (GRCm39) missense probably damaging 1.00
R7260:Rars1 UTSW 11 35,725,281 (GRCm39) missense probably benign 0.00
R7682:Rars1 UTSW 11 35,719,579 (GRCm39) missense probably benign 0.00
R7808:Rars1 UTSW 11 35,719,534 (GRCm39) missense probably benign
R7822:Rars1 UTSW 11 35,710,793 (GRCm39) missense probably damaging 0.99
R7856:Rars1 UTSW 11 35,699,412 (GRCm39) missense probably benign 0.09
R8029:Rars1 UTSW 11 35,711,992 (GRCm39) missense probably damaging 1.00
R9094:Rars1 UTSW 11 35,718,182 (GRCm39) splice site probably benign
R9096:Rars1 UTSW 11 35,718,256 (GRCm39) missense probably benign 0.00
R9300:Rars1 UTSW 11 35,706,488 (GRCm39) missense probably damaging 1.00
Z1177:Rars1 UTSW 11 35,716,936 (GRCm39) critical splice acceptor site probably null
Posted On 2014-01-21