Incidental Mutation 'IGL03296:Rars'
ID416076
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 #IGL03296
Quality Score
Status
Chromosome11
Chromosomal Location35808381-35834506 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 35816696 bp
ZygosityHeterozygous
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]
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: 43,321,153 probably benign Het
Arhgef26 A G 3: 62,423,505 T547A probably damaging Het
Cdc14a T A 3: 116,297,158 H375L probably benign Het
Ddx43 T C 9: 78,399,098 probably null Het
Dennd6a T C 14: 26,616,960 probably null Het
Dock4 A T 12: 40,733,257 E730V possibly damaging Het
Gpr55 A G 1: 85,941,031 L276S probably damaging Het
Grid1 T C 14: 35,580,567 F930L possibly damaging Het
Inf2 C T 12: 112,604,208 Q394* probably null Het
Ints11 T C 4: 155,885,323 probably null Het
Kcnd2 T C 6: 21,714,209 V397A probably damaging Het
Lmntd1 A G 6: 145,413,477 F316L probably benign Het
Loxl4 A T 19: 42,598,823 probably benign Het
Lrrc37a C T 11: 103,497,673 E2309K unknown Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Mindy4 T C 6: 55,297,753 probably null Het
Mybpc2 A T 7: 44,506,884 I835N probably damaging Het
Myo5a T C 9: 75,116,202 I15T probably damaging Het
Nfkb2 A T 19: 46,309,928 D557V probably damaging Het
Olfr743 A T 14: 50,533,945 I178L possibly damaging Het
Pdk3 T C X: 93,831,897 Y19C probably damaging Het
Pdpr G T 8: 111,114,798 V221F probably damaging Het
Rab6a T C 7: 100,634,724 Y128H probably benign Het
Rsl24d1 T C 9: 73,117,947 probably null Het
Slc7a9 T C 7: 35,452,427 F49S probably damaging Het
St14 C T 9: 31,108,712 E34K probably damaging Het
Tcp10b A G 17: 13,073,556 T289A probably damaging Het
Tenm2 T C 11: 36,052,025 probably null Het
Tshz3 A T 7: 36,771,336 T917S probably damaging Het
Vrtn T A 12: 84,648,848 I124N probably damaging Het
Vwa8 A G 14: 79,183,100 E1747G probably damaging Het
Wdr33 A T 18: 31,827,391 Q36L probably benign Het
Xpo5 C T 17: 46,221,394 R452* probably null Het
Zdhhc8 A T 16: 18,226,723 L311Q 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
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
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