Incidental Mutation 'R4190:Yars1'
ID 319906
Institutional Source Beutler Lab
Gene Symbol Yars1
Ensembl Gene ENSMUSG00000028811
Gene Name tyrosyl-tRNA synthetase 1
Synonyms Yars
MMRRC Submission 041021-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4190 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 129083595-129113033 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 129093820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 60 (C60*)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106054]
AlphaFold Q91WQ3
Predicted Effect probably benign
Transcript: ENSMUST00000106054
SMART Domains Protein: ENSMUSP00000101669
Gene: ENSMUSG00000028811

DomainStartEndE-ValueType
low complexity region 5 26 N/A INTRINSIC
Pfam:tRNA-synt_1b 67 358 1e-78 PFAM
Pfam:tRNA_bind 406 502 7.1e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128287
Predicted Effect probably null
Transcript: ENSMUST00000133992
AA Change: C60*
SMART Domains Protein: ENSMUSP00000118512
Gene: ENSMUSG00000028811
AA Change: C60*

DomainStartEndE-ValueType
Pfam:tRNA-synt_1b 1 75 2.3e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140708
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 96% (50/52)
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. Tyrosyl-tRNA synthetase belongs to the class I tRNA synthetase family. Cytokine activities have also been observed for the human tyrosyl-tRNA synthetase, after it is split into two parts, an N-terminal fragment that harbors the catalytic site and a C-terminal fragment found only in the mammalian enzyme. The N-terminal fragment is an interleukin-8-like cytokine, whereas the released C-terminal fragment is an EMAP II-like cytokine. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot4 T C 12: 84,089,948 (GRCm39) probably benign Het
Adgre1 A G 17: 57,709,811 (GRCm39) Y156C unknown Het
Ankrd13b G A 11: 77,367,201 (GRCm39) A21V probably damaging Het
Atf7ip T C 6: 136,564,499 (GRCm39) V914A probably damaging Het
C230029F24Rik AGAAAG A 1: 49,350,088 (GRCm39) noncoding transcript Het
Calcr T A 6: 3,717,106 (GRCm39) D118V possibly damaging Het
Cdc42bpg T C 19: 6,371,711 (GRCm39) V1330A probably damaging Het
Cfap54 T C 10: 92,720,885 (GRCm39) E2567G unknown Het
Ctse T A 1: 131,590,479 (GRCm39) V67D probably benign Het
Ddx19b A T 8: 111,737,980 (GRCm39) L256Q probably damaging Het
Dipk1b T C 2: 26,526,193 (GRCm39) Y376H probably damaging Het
Fahd2a C T 2: 127,280,486 (GRCm39) V156I probably benign Het
Fam185a T A 5: 21,630,122 (GRCm39) probably benign Het
Fam234a A T 17: 26,432,834 (GRCm39) L467Q probably damaging Het
Gabra2 G A 5: 71,165,341 (GRCm39) P210S probably benign Het
Heatr3 T C 8: 88,864,888 (GRCm39) probably benign Het
Herc2 T C 7: 55,772,196 (GRCm39) V1125A probably benign Het
Itga11 T A 9: 62,639,391 (GRCm39) C129S probably damaging Het
Lama2 A G 10: 27,142,660 (GRCm39) L606P probably damaging Het
Macf1 A G 4: 123,366,835 (GRCm39) F1077S possibly damaging Het
Mtmr10 G T 7: 63,963,934 (GRCm39) W223L probably benign Het
Nlgn1 T A 3: 25,488,062 (GRCm39) T758S probably benign Het
Nr4a1 T C 15: 101,171,993 (GRCm39) S556P probably damaging Het
Or4c126 C A 2: 89,823,918 (GRCm39) Y60* probably null Het
Or5p64 T C 7: 107,855,330 (GRCm39) D5G probably benign Het
Or6c201 T C 10: 128,968,836 (GRCm39) N267S possibly damaging Het
Or6c33 A T 10: 129,853,847 (GRCm39) I206F probably damaging Het
Pcdhgb8 G C 18: 37,896,594 (GRCm39) D555H probably damaging Het
Plscr5 T C 9: 92,080,651 (GRCm39) S46P probably benign Het
Ppp2r3d T C 9: 124,424,123 (GRCm38) probably benign Het
Prodh C T 16: 17,891,504 (GRCm39) V480I probably benign Het
Senp2 G T 16: 21,865,417 (GRCm39) W580L probably damaging Het
Sorcs3 T C 19: 48,737,812 (GRCm39) V743A possibly damaging Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Stab2 G T 10: 86,714,808 (GRCm39) N119K probably damaging Het
Telo2 T C 17: 25,320,987 (GRCm39) T743A probably benign Het
Trav6-1 A G 14: 52,875,976 (GRCm39) N2S probably benign Het
Trmt44 C A 5: 35,732,314 (GRCm39) V26L possibly damaging Het
Ttbk1 A T 17: 46,790,173 (GRCm39) C91S probably damaging Het
Vit A G 17: 78,894,255 (GRCm39) H219R probably benign Het
Vmn2r84 A T 10: 130,227,163 (GRCm39) L225* probably null Het
Vmn2r87 A G 10: 130,308,556 (GRCm39) Y561H probably damaging Het
Zfp202 T C 9: 40,122,633 (GRCm39) V465A probably benign Het
Other mutations in Yars1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01681:Yars1 APN 4 129,099,935 (GRCm39) missense probably damaging 1.00
IGL02039:Yars1 APN 4 129,109,052 (GRCm39) missense probably damaging 1.00
IGL03324:Yars1 APN 4 129,104,328 (GRCm39) missense probably benign 0.01
R0023:Yars1 UTSW 4 129,090,981 (GRCm39) missense probably benign 0.08
R0023:Yars1 UTSW 4 129,090,981 (GRCm39) missense probably benign 0.08
R0646:Yars1 UTSW 4 129,107,732 (GRCm39) unclassified probably benign
R0746:Yars1 UTSW 4 129,091,079 (GRCm39) missense probably damaging 1.00
R0894:Yars1 UTSW 4 129,090,948 (GRCm39) missense probably damaging 0.97
R2115:Yars1 UTSW 4 129,101,716 (GRCm39) splice site probably null
R2134:Yars1 UTSW 4 129,090,992 (GRCm39) nonsense probably null
R2189:Yars1 UTSW 4 129,099,982 (GRCm39) missense probably damaging 1.00
R4863:Yars1 UTSW 4 129,083,675 (GRCm39) unclassified probably benign
R4915:Yars1 UTSW 4 129,104,384 (GRCm39) unclassified probably benign
R5450:Yars1 UTSW 4 129,091,039 (GRCm39) missense possibly damaging 0.94
R5631:Yars1 UTSW 4 129,103,542 (GRCm39) missense probably damaging 1.00
R5789:Yars1 UTSW 4 129,090,690 (GRCm39) missense probably damaging 1.00
R6384:Yars1 UTSW 4 129,090,771 (GRCm39) critical splice donor site probably null
R6837:Yars1 UTSW 4 129,103,544 (GRCm39) missense possibly damaging 0.77
R7713:Yars1 UTSW 4 129,104,291 (GRCm39) missense probably benign 0.00
R8906:Yars1 UTSW 4 129,090,747 (GRCm39) missense probably damaging 1.00
R9115:Yars1 UTSW 4 129,109,143 (GRCm39) missense probably benign 0.20
Predicted Primers PCR Primer
(F):5'- AGCCCCTGGTTATTAGTCAAAG -3'
(R):5'- TGCTTCTGAACAACATGCAGC -3'

Sequencing Primer
(F):5'- CCCCTGGTTATTAGTCAAAGAAGTGG -3'
(R):5'- ATATGTAACTCCAGTTCCAGGGGC -3'
Posted On 2015-06-10