Incidental Mutation 'IGL03296:Rars1'
ID 416076
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 # IGL03296
Quality Score
Status
Chromosome 11
Chromosomal Location 35699208-35725333 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 35707523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 429 (Y429*)
Ref Sequence ENSEMBL: ENSMUSP00000018992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018992]
AlphaFold Q9D0I9
Predicted Effect probably null
Transcript: ENSMUST00000018992
AA Change: Y429*
SMART Domains Protein: ENSMUSP00000018992
Gene: ENSMUSG00000018848
AA Change: Y429*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000165817
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166122
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 T C 17: 43,632,044 (GRCm39) probably benign Het
Arhgef26 A G 3: 62,330,926 (GRCm39) T547A probably damaging Het
Cdc14a T A 3: 116,090,807 (GRCm39) H375L probably benign Het
Ddx43 T C 9: 78,306,380 (GRCm39) probably null Het
Dennd6a T C 14: 26,338,115 (GRCm39) probably null Het
Dock4 A T 12: 40,783,256 (GRCm39) E730V possibly damaging Het
Gpr55 A G 1: 85,868,753 (GRCm39) L276S probably damaging Het
Grid1 T C 14: 35,302,524 (GRCm39) F930L possibly damaging Het
Inf2 C T 12: 112,570,642 (GRCm39) Q394* probably null Het
Ints11 T C 4: 155,969,780 (GRCm39) probably null Het
Kcnd2 T C 6: 21,714,208 (GRCm39) V397A probably damaging Het
Lmntd1 A G 6: 145,359,203 (GRCm39) F316L probably benign Het
Loxl4 A T 19: 42,587,262 (GRCm39) probably benign Het
Lrrc37a C T 11: 103,388,499 (GRCm39) E2309K unknown Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mindy4 T C 6: 55,274,738 (GRCm39) probably null Het
Mybpc2 A T 7: 44,156,308 (GRCm39) I835N probably damaging Het
Myo5a T C 9: 75,023,484 (GRCm39) I15T probably damaging Het
Nfkb2 A T 19: 46,298,367 (GRCm39) D557V probably damaging Het
Or11g27 A T 14: 50,771,402 (GRCm39) I178L possibly damaging Het
Pdk3 T C X: 92,875,503 (GRCm39) Y19C probably damaging Het
Pdpr G T 8: 111,841,430 (GRCm39) V221F probably damaging Het
Rab6a T C 7: 100,283,931 (GRCm39) Y128H probably benign Het
Rsl24d1 T C 9: 73,025,229 (GRCm39) probably null Het
Slc7a9 T C 7: 35,151,852 (GRCm39) F49S probably damaging Het
St14 C T 9: 31,020,008 (GRCm39) E34K probably damaging Het
Tcp10b A G 17: 13,292,443 (GRCm39) T289A probably damaging Het
Tenm2 T C 11: 35,942,852 (GRCm39) probably null Het
Tshz3 A T 7: 36,470,761 (GRCm39) T917S probably damaging Het
Vrtn T A 12: 84,695,622 (GRCm39) I124N probably damaging Het
Vwa8 A G 14: 79,420,540 (GRCm39) E1747G probably damaging Het
Wdr33 A T 18: 31,960,444 (GRCm39) Q36L probably benign Het
Xpo5 C T 17: 46,532,320 (GRCm39) R452* probably null Het
Zdhhc8 A T 16: 18,044,587 (GRCm39) L311Q possibly damaging Het
Other mutations in Rars1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01568:Rars1 APN 11 35,716,808 (GRCm39) splice site probably benign
IGL01672:Rars1 APN 11 35,699,380 (GRCm39) missense probably damaging 0.99
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
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 2016-08-02