Incidental Mutation 'IGL01063:Yars2'
ID 278132
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Yars2
Ensembl Gene ENSMUSG00000022792
Gene Name tyrosyl-tRNA synthetase 2 (mitochondrial)
Synonyms 2210023C10Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.962) question?
Stock # IGL01063
Quality Score
Status
Chromosome 16
Chromosomal Location 16120829-16127504 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 16124406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 338 (R338*)
Ref Sequence ENSEMBL: ENSMUSP00000055277 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059955] [ENSMUST00000159683] [ENSMUST00000159962] [ENSMUST00000162734]
AlphaFold Q8BYL4
Predicted Effect probably null
Transcript: ENSMUST00000059955
AA Change: R338*
SMART Domains Protein: ENSMUSP00000055277
Gene: ENSMUSG00000022792
AA Change: R338*

DomainStartEndE-ValueType
Pfam:tRNA-synt_1b 64 370 5.9e-74 PFAM
Blast:S4 403 466 1e-10 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159583
Predicted Effect unknown
Transcript: ENSMUST00000159683
AA Change: A326V
SMART Domains Protein: ENSMUSP00000124606
Gene: ENSMUSG00000022792
AA Change: A326V

DomainStartEndE-ValueType
Pfam:tRNA-synt_1b 64 332 1.4e-63 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000159962
AA Change: A326V
SMART Domains Protein: ENSMUSP00000125252
Gene: ENSMUSG00000022792
AA Change: A326V

DomainStartEndE-ValueType
Pfam:tRNA-synt_1b 64 332 1.4e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161191
Predicted Effect probably benign
Transcript: ENSMUST00000162734
AA Change: A50V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000125496
Gene: ENSMUSG00000022792
AA Change: A50V

DomainStartEndE-ValueType
Pfam:tRNA-synt_1b 1 102 7.2e-9 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2). [provided by RefSeq, Jan 2011]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
4930444P10Rik A T 1: 16,148,870 (GRCm39) L61* probably null Het
Abca7 T C 10: 79,847,131 (GRCm39) I1705T probably damaging Het
Ablim1 T A 19: 57,049,760 (GRCm39) I393F probably damaging Het
Adamts5 A G 16: 85,696,722 (GRCm39) L145P probably damaging Het
Ano6 T C 15: 95,846,310 (GRCm39) I537T probably damaging Het
AU018091 T C 7: 3,212,153 (GRCm39) I190V possibly damaging Het
Camk1 T A 6: 113,315,333 (GRCm39) D155V probably damaging Het
Cdh6 A C 15: 13,064,581 (GRCm39) I103S probably damaging Het
Cntnap1 A G 11: 101,072,614 (GRCm39) D537G probably benign Het
Col6a3 T C 1: 90,730,054 (GRCm39) K1144E probably damaging Het
Cpeb1 T A 7: 81,021,929 (GRCm39) E71D probably benign Het
Cps1 T C 1: 67,234,325 (GRCm39) L904P possibly damaging Het
Cyfip1 T A 7: 55,553,958 (GRCm39) F700I probably damaging Het
Dmp1 G A 5: 104,354,965 (GRCm39) M1I probably null Het
Efcab6 A T 15: 83,938,713 (GRCm39) M1K probably null Het
Extl2 A T 3: 115,821,131 (GRCm39) H312L possibly damaging Het
Fat4 C A 3: 38,944,728 (GRCm39) A1207D possibly damaging Het
Flnb T C 14: 7,926,518 (GRCm38) probably benign Het
Hdac10 G T 15: 89,008,071 (GRCm39) A593E possibly damaging Het
Hdhd2 T C 18: 77,052,969 (GRCm39) probably null Het
Kcnq2 A G 2: 180,751,582 (GRCm39) probably benign Het
Kdm7a A G 6: 39,142,064 (GRCm39) F405L probably damaging Het
Lypd6b C A 2: 49,833,642 (GRCm39) probably benign Het
Mki67 A T 7: 135,296,651 (GRCm39) D2794E possibly damaging Het
Mtmr14 T A 6: 113,243,287 (GRCm39) F40I probably damaging Het
Or2y3 G T 17: 38,393,544 (GRCm39) S108R possibly damaging Het
Or5p55 A T 7: 107,566,741 (GRCm39) I46F probably damaging Het
Or6d13 T A 6: 116,517,968 (GRCm39) C185S probably damaging Het
Or6x1 A T 9: 40,099,052 (GRCm39) I214F probably benign Het
Ppargc1a C A 5: 51,631,664 (GRCm39) V322L probably benign Het
Ppfibp1 T A 6: 146,931,195 (GRCm39) M917K probably benign Het
Prkg2 C T 5: 99,117,795 (GRCm39) probably null Het
Rfx4 A G 10: 84,704,246 (GRCm39) E296G possibly damaging Het
Rfx8 T A 1: 39,722,110 (GRCm39) K292* probably null Het
Scamp3 C A 3: 89,084,973 (GRCm39) probably benign Het
Scn4a A T 11: 106,221,190 (GRCm39) I823N possibly damaging Het
Sdk2 A G 11: 113,721,668 (GRCm39) V1316A probably damaging Het
Setd2 T C 9: 110,402,741 (GRCm39) V1794A probably damaging Het
Stard8 G T X: 98,116,694 (GRCm39) R983L probably damaging Het
Tbc1d23 A T 16: 57,013,038 (GRCm39) D311E probably benign Het
Tex21 T C 12: 76,245,592 (GRCm39) H568R probably benign Het
Tex35 T C 1: 156,932,667 (GRCm39) probably benign Het
Tgs1 T A 4: 3,591,292 (GRCm39) F442I possibly damaging Het
Traf2 C A 2: 25,414,931 (GRCm39) C303F probably benign Het
Trim56 A T 5: 137,143,354 (GRCm39) V54D possibly damaging Het
Zfp668 A T 7: 127,465,454 (GRCm39) C577S probably damaging Het
Other mutations in Yars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Yars2 APN 16 16,121,185 (GRCm39) missense probably damaging 0.99
IGL01061:Yars2 APN 16 16,124,406 (GRCm39) nonsense probably null
IGL01062:Yars2 APN 16 16,124,406 (GRCm39) nonsense probably null
IGL01066:Yars2 APN 16 16,124,406 (GRCm39) nonsense probably null
IGL01069:Yars2 APN 16 16,124,406 (GRCm39) nonsense probably null
IGL01070:Yars2 APN 16 16,124,406 (GRCm39) nonsense probably null
IGL02928:Yars2 APN 16 16,121,410 (GRCm39) missense probably damaging 1.00
R4718:Yars2 UTSW 16 16,127,204 (GRCm39) missense probably benign 0.00
R5012:Yars2 UTSW 16 16,121,448 (GRCm39) missense probably damaging 0.98
R5498:Yars2 UTSW 16 16,124,387 (GRCm39) missense possibly damaging 0.62
R5585:Yars2 UTSW 16 16,122,484 (GRCm39) missense probably damaging 1.00
R5935:Yars2 UTSW 16 16,127,335 (GRCm39) missense probably benign 0.02
R6302:Yars2 UTSW 16 16,122,438 (GRCm39) missense probably damaging 1.00
R6344:Yars2 UTSW 16 16,120,899 (GRCm39) missense probably benign
R7218:Yars2 UTSW 16 16,121,182 (GRCm39) missense probably damaging 1.00
R7235:Yars2 UTSW 16 16,122,556 (GRCm39) missense probably benign
R7838:Yars2 UTSW 16 16,122,385 (GRCm39) splice site probably null
R8311:Yars2 UTSW 16 16,125,147 (GRCm39) missense probably benign 0.00
R9561:Yars2 UTSW 16 16,127,242 (GRCm39) missense possibly damaging 0.53
X0062:Yars2 UTSW 16 16,120,882 (GRCm39) missense probably benign 0.13
Posted On 2015-04-16