Incidental Mutation 'IGL00234:Yars2'
ID 2109
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 # IGL00234
Quality Score
Status
Chromosome 16
Chromosomal Location 16120829-16127504 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16121185 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 113 (L113P)
Ref Sequence ENSEMBL: ENSMUSP00000125252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059955] [ENSMUST00000159683] [ENSMUST00000159962] [ENSMUST00000162734]
AlphaFold Q8BYL4
Predicted Effect possibly damaging
Transcript: ENSMUST00000059955
AA Change: L113P

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000055277
Gene: ENSMUSG00000022792
AA Change: L113P

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 probably damaging
Transcript: ENSMUST00000159683
AA Change: L113P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124606
Gene: ENSMUSG00000022792
AA Change: L113P

DomainStartEndE-ValueType
Pfam:tRNA-synt_1b 64 332 1.4e-63 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159962
AA Change: L113P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125252
Gene: ENSMUSG00000022792
AA Change: L113P

DomainStartEndE-ValueType
Pfam:tRNA-synt_1b 64 332 1.4e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161191
Predicted Effect probably benign
Transcript: ENSMUST00000162734
SMART Domains Protein: ENSMUSP00000125496
Gene: ENSMUSG00000022792

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl4 T C 17: 34,000,242 (GRCm39) N42S probably damaging Het
Apoc4 A T 7: 19,412,665 (GRCm39) S27T probably benign Het
Atp13a3 T A 16: 30,170,097 (GRCm39) Q363L probably damaging Het
Cfap69 A G 5: 5,667,295 (GRCm39) Y417H probably benign Het
Cry1 A G 10: 84,982,698 (GRCm39) S243P probably benign Het
Epb41l2 A G 10: 25,377,734 (GRCm39) T116A probably damaging Het
Foxb1 A G 9: 69,667,480 (GRCm39) S17P probably damaging Het
Glb1l3 A T 9: 26,764,967 (GRCm39) L148H probably damaging Het
Hnrnpk T C 13: 58,543,111 (GRCm39) probably benign Het
Icam5 G A 9: 20,948,091 (GRCm39) probably null Het
Lats1 A G 10: 7,567,330 (GRCm39) I34V probably damaging Het
Lipc A T 9: 70,727,719 (GRCm39) Y43N possibly damaging Het
Maml3 A G 3: 51,598,125 (GRCm39) I207T probably benign Het
Nfatc2 A T 2: 168,346,810 (GRCm39) S761R probably damaging Het
Nubp1 G A 16: 10,240,703 (GRCm39) G280S probably damaging Het
Or4d2 T G 11: 87,784,191 (GRCm39) R186S possibly damaging Het
Pabpc4 A G 4: 123,180,497 (GRCm39) N73S probably damaging Het
Pcsk6 G A 7: 65,577,568 (GRCm39) C163Y probably damaging Het
Phf3 G A 1: 30,850,928 (GRCm39) T1142M probably damaging Het
Prune2 T A 19: 17,145,708 (GRCm39) probably null Het
Psmd7 A G 8: 108,312,342 (GRCm39) V85A probably damaging Het
Rc3h2 A G 2: 37,279,759 (GRCm39) V490A possibly damaging Het
Sh3tc1 A C 5: 35,868,301 (GRCm39) S388A probably damaging Het
Trank1 T C 9: 111,221,677 (GRCm39) F2805L probably damaging Het
Zfp82 G A 7: 29,765,755 (GRCm39) S16L probably damaging Het
Other mutations in Yars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2011-12-09