Incidental Mutation 'IGL01672:Rars'
ID103510
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rars
Ensembl Gene ENSMUSG00000018848
Gene Namearginyl-tRNA synthetase
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.966) question?
Stock #IGL01672
Quality Score
Status
Chromosome11
Chromosomal Location35808381-35834506 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 35808553 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 638 (C638S)
Ref Sequence ENSEMBL: ENSMUSP00000018992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018992]
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: 121,641,357 E203G probably damaging Het
AI314180 A G 4: 58,814,041 V1355A probably benign Het
Ano1 G T 7: 144,655,675 Q206K probably damaging Het
Ap4e1 T A 2: 127,052,189 S620T probably damaging Het
Arfip1 A T 3: 84,548,032 probably benign Het
Atp8a2 A T 14: 59,691,533 M1024K probably benign Het
Brap T C 5: 121,678,845 probably benign Het
Calcrl T A 2: 84,345,070 T287S probably damaging Het
Clptm1l G A 13: 73,607,873 probably null Het
Cpb1 T A 3: 20,275,421 Q47L probably null Het
Cse1l T C 2: 166,929,967 I402T probably damaging Het
Dnah17 A G 11: 118,042,160 S3591P probably damaging Het
Dst T G 1: 34,225,693 I2322S probably damaging Het
Dync2h1 G A 9: 7,118,884 R2194* probably null Het
Eno4 A G 19: 58,943,545 N30S possibly damaging Het
Ero1l A C 14: 45,292,430 S349A probably benign Het
Fat1 C T 8: 45,040,700 T3938I probably benign Het
Focad T C 4: 88,360,590 probably null Het
Gnai3 A T 3: 108,109,459 I343N probably damaging Het
Golph3 T C 15: 12,349,557 V221A probably benign Het
Gpr153 C A 4: 152,279,913 S142* probably null Het
Itpr1 C A 6: 108,381,032 Y557* probably null Het
Nat8f5 A G 6: 85,817,952 Y9H probably damaging Het
Nbas T C 12: 13,379,649 V1045A possibly damaging Het
Nol8 T C 13: 49,675,407 V1047A possibly damaging Het
Olfr330 A C 11: 58,529,122 L288R probably benign Het
Olfr491 T A 7: 108,317,518 V208E probably benign Het
Osbpl1a G A 18: 12,766,824 T178I probably damaging Het
Palld T A 8: 61,877,502 I114F probably benign Het
Pcca A T 14: 122,690,145 Y440F probably benign Het
Pclo T C 5: 14,678,535 probably benign Het
Piwil1 T C 5: 128,749,973 M599T possibly damaging Het
Pkd1l2 T A 8: 117,080,732 Y189F possibly damaging Het
Plscr3 A G 11: 69,847,682 K91R possibly damaging Het
Relb T A 7: 19,611,694 H406L probably benign Het
Ros1 G T 10: 52,101,803 T1449K possibly damaging Het
Samd3 A T 10: 26,270,169 N364I possibly damaging Het
Scn2a T A 2: 65,751,934 I1542N probably damaging Het
Sdk1 T A 5: 142,185,175 M1931K probably benign Het
Sphk2 T C 7: 45,711,653 D309G possibly damaging Het
Stil T C 4: 115,032,789 S825P probably damaging Het
Swt1 C T 1: 151,394,608 probably null Het
Virma C T 4: 11,527,792 R1228C probably damaging Het
Xirp2 T A 2: 67,508,502 H362Q probably benign Het
Zfp451 C A 1: 33,762,166 M1056I probably benign Het
Zfp458 T A 13: 67,257,236 M380L probably benign Het
Other mutations in Rars
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01568:Rars APN 11 35825981 splice site probably benign
IGL01721:Rars APN 11 35828664 missense probably damaging 1.00
IGL01887:Rars APN 11 35825995 missense probably benign 0.03
IGL02605:Rars APN 11 35824526 splice site probably benign
IGL03296:Rars APN 11 35816696 nonsense probably null
IGL03354:Rars APN 11 35824475 missense probably damaging 1.00
R0410:Rars UTSW 11 35826020 missense probably damaging 1.00
R1193:Rars UTSW 11 35809326 missense possibly damaging 0.92
R1222:Rars UTSW 11 35809740 missense probably damaging 1.00
R1418:Rars UTSW 11 35809740 missense probably damaging 1.00
R1562:Rars UTSW 11 35821094 critical splice donor site probably null
R1768:Rars UTSW 11 35809638 missense probably damaging 1.00
R1800:Rars UTSW 11 35825995 missense probably benign 0.03
R2055:Rars UTSW 11 35826583 splice site probably benign
R2294:Rars UTSW 11 35817536 splice site probably benign
R4281:Rars UTSW 11 35821224 missense probably damaging 1.00
R4807:Rars UTSW 11 35809146 missense possibly damaging 0.81
R4898:Rars UTSW 11 35808558 missense probably damaging 1.00
R5522:Rars UTSW 11 35817368 nonsense probably null
R5907:Rars UTSW 11 35828648 missense probably damaging 1.00
R6243:Rars UTSW 11 35826547 missense possibly damaging 0.64
R6289:Rars UTSW 11 35826067 missense probably damaging 1.00
R6550:Rars UTSW 11 35833183 missense probably benign 0.00
R6889:Rars UTSW 11 35808486 missense probably damaging 1.00
R7260:Rars UTSW 11 35834454 missense probably benign 0.00
R7682:Rars UTSW 11 35828752 missense probably benign 0.00
R7808:Rars UTSW 11 35828707 missense probably benign
R7822:Rars UTSW 11 35819966 missense probably damaging 0.99
R7856:Rars UTSW 11 35808585 missense probably benign 0.09
R7939:Rars UTSW 11 35808585 missense probably benign 0.09
R8029:Rars UTSW 11 35821165 missense probably damaging 1.00
Z1177:Rars UTSW 11 35826109 critical splice acceptor site probably null
Posted On2014-01-21