Incidental Mutation 'IGL01061:Yars2'
ID 278127
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: 0.956) question?
Stock # IGL01061
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Ankfy1 T A 11: 72,619,686 (GRCm39) C186* probably null Het
Ankmy1 A T 1: 92,798,696 (GRCm39) probably benign Het
B3gnt2 T A 11: 22,786,042 (GRCm39) E382V probably damaging Het
Carmil3 T G 14: 55,736,087 (GRCm39) S610A possibly damaging Het
Cfap70 T C 14: 20,497,693 (GRCm39) probably benign Het
Chek1 G A 9: 36,625,815 (GRCm39) R277C possibly damaging Het
Cpb1 T A 3: 20,320,680 (GRCm39) I92L probably benign Het
Ddx56 C T 11: 6,214,671 (GRCm39) probably null Het
Dicer1 A T 12: 104,672,586 (GRCm39) M887K probably null Het
Dnajc18 A G 18: 35,813,995 (GRCm39) probably benign Het
Dock2 A G 11: 34,596,653 (GRCm39) V401A probably damaging Het
Dock4 A C 12: 40,752,968 (GRCm39) N434T probably benign Het
Dync2i1 C A 12: 116,193,324 (GRCm39) A543S probably benign Het
Ehbp1l1 A T 19: 5,767,916 (GRCm39) M1129K probably benign Het
Fam83a A T 15: 57,849,771 (GRCm39) Y105F possibly damaging Het
Fnbp1 C A 2: 30,973,054 (GRCm39) D70Y probably damaging Het
Gtf3c2 A G 5: 31,325,698 (GRCm39) F414L possibly damaging Het
Kndc1 A T 7: 139,502,610 (GRCm39) E965D probably benign Het
Lrrc66 T C 5: 73,772,842 (GRCm39) K209E probably benign Het
Mcm3 A T 1: 20,884,720 (GRCm39) I261N possibly damaging Het
Mier3 T A 13: 111,850,970 (GRCm39) probably benign Het
Muc6 T C 7: 141,234,720 (GRCm39) E669G probably damaging Het
Myh1 T A 11: 67,108,688 (GRCm39) M1368K probably benign Het
Nav1 A G 1: 135,378,368 (GRCm39) I1653T probably damaging Het
Nuak1 C A 10: 84,210,998 (GRCm39) L363F probably damaging Het
Or14j2 A G 17: 37,885,795 (GRCm39) I173T possibly damaging Het
Or52b1 A G 7: 104,978,589 (GRCm39) I270T possibly damaging Het
Or9i1 T C 19: 13,840,069 (GRCm39) V304A possibly damaging Het
Pkd1l3 A G 8: 110,365,338 (GRCm39) H1153R probably damaging Het
Poglut3 A G 9: 53,299,887 (GRCm39) probably benign Het
Ppp6r2 A T 15: 89,170,218 (GRCm39) probably benign Het
Prelid3b T C 2: 174,307,614 (GRCm39) probably null Het
Prrt3 T C 6: 113,474,731 (GRCm39) K164E possibly damaging Het
Rab22a T A 2: 173,530,003 (GRCm39) D60E probably damaging Het
Rab32 A G 10: 10,433,618 (GRCm39) L72P probably damaging Het
Samm50 A G 15: 84,086,455 (GRCm39) T225A probably benign Het
Snx27 T A 3: 94,436,287 (GRCm39) probably benign Het
Taf7 G A 18: 37,776,486 (GRCm39) T27M probably damaging Het
Tgm5 A T 2: 120,901,977 (GRCm39) C231S probably benign Het
Tll1 A G 8: 64,491,488 (GRCm39) probably null Het
Tmem150a A G 6: 72,334,101 (GRCm39) D61G probably damaging Het
Ttll8 G A 15: 88,801,453 (GRCm39) R412C possibly damaging Het
Ubr3 T A 2: 69,813,569 (GRCm39) D1293E probably benign Het
Utp20 T C 10: 88,606,566 (GRCm39) N1669D probably benign Het
Vmn2r28 A G 7: 5,491,183 (GRCm39) W355R probably damaging Het
Zfhx2 T A 14: 55,311,339 (GRCm39) N452Y possibly damaging Het
Zfp180 T G 7: 23,804,170 (GRCm39) D196E possibly damaging Het
Other mutations in Yars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00234:Yars2 APN 16 16,121,185 (GRCm39) missense probably damaging 0.99
IGL01062:Yars2 APN 16 16,124,406 (GRCm39) nonsense probably null
IGL01063: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