Incidental Mutation 'R2189:Yars1'
ID 237960
Institutional Source Beutler Lab
Gene Symbol Yars1
Ensembl Gene ENSMUSG00000028811
Gene Name tyrosyl-tRNA synthetase 1
Synonyms Yars
MMRRC Submission 040191-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2189 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 129083595-129113033 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129099982 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 227 (I227V)
Ref Sequence ENSEMBL: ENSMUSP00000101669 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106054]
AlphaFold Q91WQ3
Predicted Effect probably damaging
Transcript: ENSMUST00000106054
AA Change: I227V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101669
Gene: ENSMUSG00000028811
AA Change: I227V

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 probably benign
Transcript: ENSMUST00000133992
SMART Domains Protein: ENSMUSP00000118512
Gene: ENSMUSG00000028811

DomainStartEndE-ValueType
Pfam:tRNA-synt_1b 1 75 2.3e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140708
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146106
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
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. 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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan G C 7: 78,747,839 (GRCm39) G870A probably damaging Het
Adamtsl2 T C 2: 26,971,750 (GRCm39) W12R probably benign Het
Bsph1 G A 7: 13,204,254 (GRCm39) probably null Het
Celsr1 G T 15: 85,863,431 (GRCm39) H1200Q possibly damaging Het
Clptm1 A T 7: 19,371,070 (GRCm39) Y355* probably null Het
Cry2 T C 2: 92,242,037 (GRCm39) E572G possibly damaging Het
Dlk1 G A 12: 109,420,975 (GRCm39) probably null Het
Eral1 A G 11: 77,966,657 (GRCm39) V201A probably benign Het
Esrp1 A T 4: 11,357,603 (GRCm39) M503K probably benign Het
Fam83e G T 7: 45,371,607 (GRCm39) M1I probably null Het
Flt4 G A 11: 49,526,525 (GRCm39) A835T probably benign Het
H2bc15 A G 13: 21,938,447 (GRCm39) D52G probably damaging Het
Hdac4 T C 1: 91,903,244 (GRCm39) S562G probably null Het
Icosl A G 10: 77,909,759 (GRCm39) T235A possibly damaging Het
Itga6 A G 2: 71,655,961 (GRCm39) D295G probably benign Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lipa A T 19: 34,502,199 (GRCm39) L15Q probably benign Het
Mcc T C 18: 44,667,297 (GRCm39) E218G possibly damaging Het
Mdga2 A G 12: 66,519,970 (GRCm39) probably null Het
Mmadhc A C 2: 50,178,958 (GRCm39) C153W probably damaging Het
Myh1 A G 11: 67,112,430 (GRCm39) D1799G probably damaging Het
Nlrp1b T A 11: 71,060,621 (GRCm39) Q729L probably damaging Het
Ofcc1 T A 13: 40,333,924 (GRCm39) Q389L probably benign Het
Or52b2 A G 7: 104,986,809 (GRCm39) V38A probably benign Het
Or5m5 A G 2: 85,814,412 (GRCm39) D76G probably damaging Het
Or5p4 A T 7: 107,680,243 (GRCm39) M81L possibly damaging Het
Or5p50 T C 7: 107,421,822 (GRCm39) I285V probably benign Het
Pml T C 9: 58,142,157 (GRCm39) N225S probably benign Het
Rnf213 A G 11: 119,321,187 (GRCm39) E1215G probably benign Het
Scap T A 9: 110,206,761 (GRCm39) I402N probably damaging Het
Sgsm2 A G 11: 74,743,908 (GRCm39) L886P probably damaging Het
Sugct T C 13: 17,836,851 (GRCm39) I104V probably benign Het
Tmem200c A G 17: 69,147,681 (GRCm39) Q88R probably damaging Het
Tnfrsf1a T A 6: 125,334,768 (GRCm39) L14Q probably benign Het
Tnk2 C T 16: 32,490,239 (GRCm39) L381F probably damaging Het
Ubr2 C T 17: 47,254,290 (GRCm39) V1454I probably benign Het
V1ra8 A C 6: 90,179,944 (GRCm39) D49A probably damaging Het
Vmn2r5 A C 3: 64,417,014 (GRCm39) M48R probably benign Het
Zfp850 C A 7: 27,688,480 (GRCm39) R576L probably benign Het
Zfpm2 T A 15: 40,964,579 (GRCm39) F223I possibly damaging 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
R4190:Yars1 UTSW 4 129,093,820 (GRCm39) nonsense probably null
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'- TGCAGTAATGATCGCACATGAAC -3'
(R):5'- CACACCTGGTTAGCATGGAC -3'

Sequencing Primer
(F):5'- ATGAACTCCACAGCTGTTTCTGAG -3'
(R):5'- CATTGTTTTCTCATCTGCAGAGCAAG -3'
Posted On 2014-10-02