Incidental Mutation 'IGL03354:Rars'
ID419848
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: 0.968) question?
Stock #IGL03354
Quality Score
Status
Chromosome11
Chromosomal Location35808381-35834506 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 35824475 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 248 (L248P)
Ref Sequence ENSEMBL: ENSMUSP00000018992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018992]
Predicted Effect probably damaging
Transcript: ENSMUST00000018992
AA Change: L248P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018992
Gene: ENSMUSG00000018848
AA Change: L248P

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: ENSMUST00000137815
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik G A 5: 138,646,779 A309T possibly damaging Het
Abca15 C A 7: 120,394,488 Y1310* probably null Het
Adad1 G T 3: 37,106,173 C552F probably damaging Het
Adam22 A G 5: 8,158,890 S180P possibly damaging Het
Anxa10 A T 8: 62,096,744 D22E probably damaging Het
Astn1 T C 1: 158,688,604 S1255P probably damaging Het
Bhlhe41 T C 6: 145,864,203 T92A probably damaging Het
Bicc1 G A 10: 70,946,602 P603S probably benign Het
Camk2d T C 3: 126,796,966 probably null Het
Ccdc136 T A 6: 29,419,103 I808N probably damaging Het
Cd200r3 C T 16: 44,953,597 A124V possibly damaging Het
Cfap70 T C 14: 20,431,982 E310G probably damaging Het
Cyp2d12 A T 15: 82,558,961 D357V probably damaging Het
Dnah7b G A 1: 46,085,689 V173I probably damaging Het
Dnajb4 T A 3: 152,186,478 E239D probably benign Het
Dzip1 G A 14: 118,912,569 probably benign Het
Emp2 A G 16: 10,285,565 I74T probably damaging Het
Ermn T G 2: 58,052,622 E32A probably benign Het
F10 C A 8: 13,045,089 T82N probably benign Het
Fam227a T C 15: 79,636,750 D295G possibly damaging Het
Gm527 T A 12: 64,922,380 F194I probably damaging Het
Gmcl1 G A 6: 86,726,158 T98M probably damaging Het
Gucy2g T C 19: 55,233,080 R330G possibly damaging Het
Hist1h1e C T 13: 23,622,077 probably benign Het
Kif1a T C 1: 93,060,235 H549R probably damaging Het
Klhl14 T A 18: 21,651,728 D214V probably damaging Het
Lipo2 A G 19: 33,730,870 F248S probably benign Het
Mctp2 C T 7: 72,161,244 V661I probably benign Het
Myh15 A T 16: 49,172,010 M1616L probably benign Het
Nlrp4b A T 7: 10,714,538 I223F probably damaging Het
Olfr1133 T C 2: 87,645,595 N176S probably damaging Het
Olfr1367 T C 13: 21,347,516 V196A possibly damaging Het
Olfr1368 T C 13: 21,142,484 Y191C probably damaging Het
Olfr140 A C 2: 90,051,567 C252W probably damaging Het
Olfr347 A T 2: 36,734,512 S64C possibly damaging Het
Olfr347 G T 2: 36,734,513 S64I possibly damaging Het
Olfr508 T A 7: 108,630,528 C179S possibly damaging Het
Olfr706 A G 7: 106,886,100 V239A probably benign Het
Pcsk4 T C 10: 80,326,059 D116G probably damaging Het
Pibf1 A G 14: 99,150,738 D440G probably benign Het
Plekho2 T C 9: 65,559,421 E129G probably null Het
Ptgds T C 2: 25,469,610 T22A probably benign Het
Ruvbl1 C A 6: 88,479,215 Y90* probably null Het
Schip1 A G 3: 68,494,965 D125G possibly damaging Het
Smarca2 T C 19: 26,619,903 S62P probably benign Het
Sort1 T C 3: 108,348,706 V656A probably benign Het
Tlr12 A G 4: 128,615,937 L840P probably damaging Het
Trpm3 T A 19: 22,856,718 I438N probably damaging Het
Ttc37 T C 13: 76,182,822 V1457A possibly damaging Het
Wdr11 C A 7: 129,625,302 F829L probably benign Het
Zdhhc11 A T 13: 73,979,145 I214F possibly damaging Het
Other mutations in Rars
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01568:Rars APN 11 35825981 splice site probably benign
IGL01672:Rars APN 11 35808553 missense probably damaging 0.99
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
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
R8029:Rars UTSW 11 35821165 missense probably damaging 1.00
Z1177:Rars UTSW 11 35826109 critical splice acceptor site probably null
Posted On2016-08-02