Incidental Mutation 'IGL00234:Yars2'
ID2109
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Yars2
Ensembl Gene ENSMUSG00000022792
Gene Nametyrosyl-tRNA synthetase 2 (mitochondrial)
Synonyms2210023C10Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.956) question?
Stock #IGL00234
Quality Score
Status
Chromosome16
Chromosomal Location16302965-16309640 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 16303321 bp
ZygosityHeterozygous
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]
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: 33,781,268 N42S probably damaging Het
Apoc4 A T 7: 19,678,740 S27T probably benign Het
Atp13a3 T A 16: 30,351,279 Q363L probably damaging Het
Cfap69 A G 5: 5,617,295 Y417H probably benign Het
Cry1 A G 10: 85,146,834 S243P probably benign Het
Epb41l2 A G 10: 25,501,836 T116A probably damaging Het
Foxb1 A G 9: 69,760,198 S17P probably damaging Het
Glb1l3 A T 9: 26,853,671 L148H probably damaging Het
Hnrnpk T C 13: 58,395,297 probably benign Het
Icam5 G A 9: 21,036,795 probably null Het
Lats1 A G 10: 7,691,566 I34V probably damaging Het
Lipc A T 9: 70,820,437 Y43N possibly damaging Het
Maml3 A G 3: 51,690,704 I207T probably benign Het
Nfatc2 A T 2: 168,504,890 S761R probably damaging Het
Nubp1 G A 16: 10,422,839 G280S probably damaging Het
Olfr463 T G 11: 87,893,365 R186S possibly damaging Het
Pabpc4 A G 4: 123,286,704 N73S probably damaging Het
Pcsk6 G A 7: 65,927,820 C163Y probably damaging Het
Phf3 G A 1: 30,811,847 T1142M probably damaging Het
Prune2 T A 19: 17,168,344 probably null Het
Psmd7 A G 8: 107,585,710 V85A probably damaging Het
Rc3h2 A G 2: 37,389,747 V490A possibly damaging Het
Sh3tc1 A C 5: 35,710,957 S388A probably damaging Het
Trank1 T C 9: 111,392,609 F2805L probably damaging Het
Zfp82 G A 7: 30,066,330 S16L probably damaging Het
Other mutations in Yars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01061:Yars2 APN 16 16306542 nonsense probably null
IGL01062:Yars2 APN 16 16306542 nonsense probably null
IGL01063:Yars2 APN 16 16306542 nonsense probably null
IGL01066:Yars2 APN 16 16306542 nonsense probably null
IGL01069:Yars2 APN 16 16306542 nonsense probably null
IGL01070:Yars2 APN 16 16306542 nonsense probably null
IGL02928:Yars2 APN 16 16303546 missense probably damaging 1.00
R4718:Yars2 UTSW 16 16309340 missense probably benign 0.00
R5012:Yars2 UTSW 16 16303584 missense probably damaging 0.98
R5498:Yars2 UTSW 16 16306523 missense possibly damaging 0.62
R5585:Yars2 UTSW 16 16304620 missense probably damaging 1.00
R5935:Yars2 UTSW 16 16309471 missense probably benign 0.02
R6302:Yars2 UTSW 16 16304574 missense probably damaging 1.00
R6344:Yars2 UTSW 16 16303035 missense probably benign
R7218:Yars2 UTSW 16 16303318 missense probably damaging 1.00
R7235:Yars2 UTSW 16 16304692 missense probably benign
R7921:Yars2 UTSW 16 16304521 splice site probably null
X0062:Yars2 UTSW 16 16303018 missense probably benign 0.13
Posted On2011-12-09