Incidental Mutation 'IGL01070:Yars2'
ID 278147
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 # IGL01070
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Adamts5 T C 16: 85,660,021 (GRCm39) H757R probably damaging Het
Aen G A 7: 78,557,050 (GRCm39) M299I probably damaging Het
Akap3 A T 6: 126,842,842 (GRCm39) E487V possibly damaging Het
Bicd2 T C 13: 49,531,792 (GRCm39) S271P probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cma1 A G 14: 56,180,154 (GRCm39) S71P probably benign Het
Cspp1 T C 1: 10,158,370 (GRCm39) Y494H probably damaging Het
Cyp39a1 A G 17: 43,993,913 (GRCm39) K191R probably benign Het
Efr3a G A 15: 65,724,927 (GRCm39) V507I probably benign Het
Fam178b C T 1: 36,603,484 (GRCm39) R489Q possibly damaging Het
Kcnj4 A G 15: 79,368,780 (GRCm39) L400P probably benign Het
Kif27 A G 13: 58,491,907 (GRCm39) Y411H probably damaging Het
Mstn A T 1: 53,101,156 (GRCm39) I78L possibly damaging Het
Nrap T C 19: 56,317,516 (GRCm39) D1377G probably damaging Het
Pramel5 T G 4: 143,997,842 (GRCm39) Y467S probably damaging Het
Prkg1 G A 19: 30,546,743 (GRCm39) probably benign Het
Rbfox1 A C 16: 7,124,307 (GRCm39) S219R possibly damaging Het
Rfng T C 11: 120,674,778 (GRCm39) N71D probably damaging Het
Rp1 T C 1: 4,415,461 (GRCm39) I1884V probably damaging Het
Rptn T A 3: 93,305,483 (GRCm39) Y939N possibly damaging Het
Sart1 A G 19: 5,433,979 (GRCm39) V322A probably benign Het
Shank3 T C 15: 89,433,619 (GRCm39) S1455P probably damaging Het
Smc5 T A 19: 23,208,965 (GRCm39) R703W possibly damaging Het
Sptan1 G A 2: 29,904,185 (GRCm39) probably null Het
Tecta T C 9: 42,306,299 (GRCm39) D43G probably damaging Het
Tmem67 A T 4: 12,054,750 (GRCm39) M685K probably benign Het
Trac A G 14: 54,458,223 (GRCm39) T82A probably benign Het
Trank1 A G 9: 111,195,861 (GRCm39) N1295S probably damaging Het
Ttc36 T C 9: 44,712,887 (GRCm39) probably null Het
Utp18 A T 11: 93,760,674 (GRCm39) S384T possibly damaging Het
Vmn1r64 C A 7: 5,886,941 (GRCm39) A201S probably benign Het
Vmn2r26 A T 6: 124,038,566 (GRCm39) I714F probably benign Het
Vps54 T A 11: 21,262,268 (GRCm39) V626D probably damaging Het
Wapl T C 14: 34,467,579 (GRCm39) probably benign 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
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
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