Incidental Mutation 'R8029:Rars'
ID 617839
Institutional Source Beutler Lab
Gene Symbol Rars
Ensembl Gene ENSMUSG00000018848
Gene Name arginyl-tRNA synthetase
Synonyms
MMRRC Submission 067468-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.965) question?
Stock # R8029 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 35808381-35834506 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 35821165 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 295 (V295I)
Ref Sequence ENSEMBL: ENSMUSP00000018992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018992]
AlphaFold Q9D0I9
Predicted Effect probably damaging
Transcript: ENSMUST00000018992
AA Change: V295I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000018992
Gene: ENSMUSG00000018848
AA Change: V295I

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700014D04Rik T C 13: 59,742,377 (GRCm38) H543R possibly damaging Het
Acvr1c A G 2: 58,296,117 (GRCm38) I118T possibly damaging Het
Alpk1 T C 3: 127,729,285 (GRCm38) D36G possibly damaging Het
Aox2 G A 1: 58,343,668 (GRCm38) V1036I probably benign Het
Arhgef1 T C 7: 24,919,738 (GRCm38) L468P probably damaging Het
Armc2 A T 10: 41,927,000 (GRCm38) L559Q probably damaging Het
Asb3 A T 11: 31,101,180 (GRCm38) R506* probably null Het
Asna1 T C 8: 85,019,827 (GRCm38) M131V probably benign Het
Aspm A G 1: 139,471,632 (GRCm38) H1045R probably benign Het
Cacna1g G T 11: 94,409,738 (GRCm38) R2099S probably benign Het
Cd177 C T 7: 24,756,169 (GRCm38) W309* probably null Het
Cd34 A C 1: 194,958,552 (GRCm38) M242L probably benign Het
Cdh24 T A 14: 54,639,399 (GRCm38) N49I probably damaging Het
Ces2b A G 8: 104,834,850 (GRCm38) N192S probably damaging Het
Chsy3 A G 18: 59,179,447 (GRCm38) I331V possibly damaging Het
Disp1 A G 1: 183,089,288 (GRCm38) S523P probably damaging Het
Dlgap5 T C 14: 47,416,440 (GRCm38) H44R probably benign Het
Dnajc30 G T 5: 135,064,332 (GRCm38) A28S probably benign Het
Dsc2 C T 18: 20,032,274 (GRCm38) G881R possibly damaging Het
Exd1 A T 2: 119,528,723 (GRCm38) H226Q probably damaging Het
Gata6 T A 18: 11,054,944 (GRCm38) V291E possibly damaging Het
Gfi1b A T 2: 28,613,675 (GRCm38) probably null Het
Grk3 T A 5: 112,961,642 (GRCm38) I150L probably benign Het
Gstcd C T 3: 133,082,107 (GRCm38) V277M probably damaging Het
Idua T C 5: 108,669,412 (GRCm38) F17S probably benign Het
Ighg1 T C 12: 113,329,145 (GRCm38) K268R Het
Lama1 G T 17: 67,817,594 (GRCm38) R2883M Het
Lpar3 T C 3: 146,240,963 (GRCm38) M132T probably benign Het
Macf1 T C 4: 123,444,892 (GRCm38) T4351A possibly damaging Het
March6 A G 15: 31,496,002 (GRCm38) probably null Het
Mbtps1 C A 8: 119,547,805 (GRCm38) probably benign Het
Mctp1 T C 13: 77,029,886 (GRCm38) Y931H probably damaging Het
Mug2 A G 6: 122,081,545 (GRCm38) probably null Het
Myh1 G T 11: 67,211,240 (GRCm38) probably null Het
Mylk2 T C 2: 152,920,299 (GRCm38) S497P probably damaging Het
Nectin4 A G 1: 171,386,687 (GRCm38) D470G probably benign Het
Nop2 C T 6: 125,144,420 (GRCm38) P722S possibly damaging Het
Nphp1 T C 2: 127,741,116 (GRCm38) T626A probably benign Het
Nudt9 C T 5: 104,050,611 (GRCm38) probably benign Het
Olfr1145 A G 2: 87,810,032 (GRCm38) T71A probably benign Het
Olfr18 A G 9: 20,314,347 (GRCm38) F191S possibly damaging Het
Olfr512 T A 7: 108,713,830 (GRCm38) F159Y possibly damaging Het
Olfr835 T C 9: 19,035,794 (GRCm38) S224P probably damaging Het
Oplah T C 15: 76,305,696 (GRCm38) Y143C probably benign Het
Osbpl1a T G 18: 12,914,521 (GRCm38) E125D probably benign Het
P2ry1 C A 3: 61,003,522 (GRCm38) N27K possibly damaging Het
Palld A T 8: 61,877,312 (GRCm38) I177N probably damaging Het
Plcl1 A T 1: 55,696,078 (GRCm38) I193L probably benign Het
Polr1a T A 6: 71,912,956 (GRCm38) L53* probably null Het
Ppp1r9a A G 6: 5,057,518 (GRCm38) E531G possibly damaging Het
Prex1 C A 2: 166,575,603 (GRCm38) Q1361H probably benign Het
Ptprc T C 1: 138,078,459 (GRCm38) E795G probably damaging Het
Rnaseh2b T C 14: 62,353,548 (GRCm38) V116A possibly damaging Het
Rnf43 T A 11: 87,731,894 (GRCm38) L480H probably benign Het
Rttn A G 18: 89,090,474 (GRCm38) T1601A not run Het
Setd1a C G 7: 127,786,214 (GRCm38) Q698E probably benign Het
Sh3gl3 T C 7: 82,270,883 (GRCm38) Y100H probably benign Het
Sis T C 3: 72,921,142 (GRCm38) Y1200C probably damaging Het
Snx13 A C 12: 35,119,886 (GRCm38) H610P probably damaging Het
Spdl1 T C 11: 34,822,592 (GRCm38) R217G probably benign Het
Spop G A 11: 95,474,367 (GRCm38) E113K probably benign Het
Sult2a3 G A 7: 14,121,628 (GRCm38) P101L probably damaging Het
Tbl1xr1 C T 3: 22,200,436 (GRCm38) H348Y probably damaging Het
Tmie T C 9: 110,867,487 (GRCm38) T109A possibly damaging Het
Ttc12 A G 9: 49,470,251 (GRCm38) V140A possibly damaging Het
Ube2m A G 7: 13,036,597 (GRCm38) L58P probably damaging Het
Urb1 A G 16: 90,779,152 (GRCm38) S839P possibly damaging Het
Vmn2r117 T A 17: 23,477,770 (GRCm38) D221V probably benign Het
Vps41 C T 13: 18,823,785 (GRCm38) Q263* probably null Het
Zfand3 A T 17: 30,135,433 (GRCm38) T75S probably benign Het
Zscan26 A G 13: 21,445,350 (GRCm38) C202R probably damaging Het
Other mutations in Rars
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01568:Rars APN 11 35,825,981 (GRCm38) splice site probably benign
IGL01672:Rars APN 11 35,808,553 (GRCm38) missense probably damaging 0.99
IGL01721:Rars APN 11 35,828,664 (GRCm38) missense probably damaging 1.00
IGL01887:Rars APN 11 35,825,995 (GRCm38) missense probably benign 0.03
IGL02605:Rars APN 11 35,824,526 (GRCm38) splice site probably benign
IGL03296:Rars APN 11 35,816,696 (GRCm38) nonsense probably null
IGL03354:Rars APN 11 35,824,475 (GRCm38) missense probably damaging 1.00
R0410:Rars UTSW 11 35,826,020 (GRCm38) missense probably damaging 1.00
R1193:Rars UTSW 11 35,809,326 (GRCm38) missense possibly damaging 0.92
R1222:Rars UTSW 11 35,809,740 (GRCm38) missense probably damaging 1.00
R1418:Rars UTSW 11 35,809,740 (GRCm38) missense probably damaging 1.00
R1562:Rars UTSW 11 35,821,094 (GRCm38) critical splice donor site probably null
R1768:Rars UTSW 11 35,809,638 (GRCm38) missense probably damaging 1.00
R1800:Rars UTSW 11 35,825,995 (GRCm38) missense probably benign 0.03
R2055:Rars UTSW 11 35,826,583 (GRCm38) splice site probably benign
R2294:Rars UTSW 11 35,817,536 (GRCm38) splice site probably benign
R4281:Rars UTSW 11 35,821,224 (GRCm38) missense probably damaging 1.00
R4807:Rars UTSW 11 35,809,146 (GRCm38) missense possibly damaging 0.81
R4898:Rars UTSW 11 35,808,558 (GRCm38) missense probably damaging 1.00
R5522:Rars UTSW 11 35,817,368 (GRCm38) nonsense probably null
R5907:Rars UTSW 11 35,828,648 (GRCm38) missense probably damaging 1.00
R6243:Rars UTSW 11 35,826,547 (GRCm38) missense possibly damaging 0.64
R6289:Rars UTSW 11 35,826,067 (GRCm38) missense probably damaging 1.00
R6550:Rars UTSW 11 35,833,183 (GRCm38) missense probably benign 0.00
R6889:Rars UTSW 11 35,808,486 (GRCm38) missense probably damaging 1.00
R7260:Rars UTSW 11 35,834,454 (GRCm38) missense probably benign 0.00
R7682:Rars UTSW 11 35,828,752 (GRCm38) missense probably benign 0.00
R7808:Rars UTSW 11 35,828,707 (GRCm38) missense probably benign
R7822:Rars UTSW 11 35,819,966 (GRCm38) missense probably damaging 0.99
R7856:Rars UTSW 11 35,808,585 (GRCm38) missense probably benign 0.09
R9094:Rars UTSW 11 35,827,355 (GRCm38) splice site probably benign
R9096:Rars UTSW 11 35,827,429 (GRCm38) missense probably benign 0.00
R9300:Rars UTSW 11 35,815,661 (GRCm38) missense probably damaging 1.00
Z1177:Rars UTSW 11 35,826,109 (GRCm38) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- CCATGTGGCAAATGCATTCC -3'
(R):5'- AACTTGAACAGTGTTCTTGGCTTTG -3'

Sequencing Primer
(F):5'- GGCAAATGCATTCCTTTATTTACACC -3'
(R):5'- AACAGTGTTCTTGGCTTTGGAGTAG -3'
Posted On 2020-01-23