Incidental Mutation 'IGL02485:Mars2'
ID295398
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mars2
Ensembl Gene ENSMUSG00000046994
Gene Namemethionine-tRNA synthetase 2 (mitochondrial)
SynonymsC730026E21Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02485
Quality Score
Status
Chromosome1
Chromosomal Location55237177-55248470 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 55237591 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 118 (F118L)
Ref Sequence ENSEMBL: ENSMUSP00000049770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061334]
Predicted Effect possibly damaging
Transcript: ENSMUST00000061334
AA Change: F118L

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000049770
Gene: ENSMUSG00000046994
AA Change: F118L

DomainStartEndE-ValueType
Pfam:tRNA-synt_1 28 135 1.5e-6 PFAM
Pfam:tRNA-synt_1g 38 404 3.3e-109 PFAM
Pfam:tRNA-synt_1 263 376 4.4e-11 PFAM
Pfam:tRNA-synt_1e 319 387 3.4e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181563
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209801
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 produces a mitochondrial methionyl-tRNA synthetase protein that is encoded by the nuclear genome and imported to the mitochondrion. This protein likely functions as a monomer and is predicted to localize to the mitochondrial matrix. Mutations in this gene are associated with the autosomal recessive neurodegenerative disease spastic ataxia-3 (SPAX3). [provided by RefSeq, Apr 2014]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik A T 2: 111,228,325 V94E probably damaging Het
Agl A G 3: 116,779,080 S841P probably benign Het
BC003331 A G 1: 150,363,489 probably null Het
Cd59b A C 2: 104,081,104 probably benign Het
Dopey2 T C 16: 93,770,822 L1379P probably damaging Het
Ercc2 G A 7: 19,394,045 A433T possibly damaging Het
Gm17175 T C 14: 51,569,611 probably benign Het
Gm5150 A T 3: 15,990,752 I103N probably damaging Het
Igf1 A G 10: 87,864,746 M11V probably benign Het
Incenp T C 19: 9,893,368 N299S unknown Het
Maneal A T 4: 124,856,770 S398T probably damaging Het
Map1a A G 2: 121,299,288 N195S probably damaging Het
Mast4 A G 13: 102,735,496 S2263P probably benign Het
Mrgprb1 C A 7: 48,447,717 R149L possibly damaging Het
Myo1d T C 11: 80,666,581 D511G probably damaging Het
Ntan1 T C 16: 13,834,676 probably benign Het
Nxf2 A G X: 134,956,467 F158L probably damaging Het
Olfr1513 T A 14: 52,350,044 M1L possibly damaging Het
Trpm1 C T 7: 64,269,114 A734V possibly damaging Het
Upf2 G A 2: 6,027,291 E883K unknown Het
Ush1c T C 7: 46,229,250 I83V probably damaging Het
Vmn2r60 C A 7: 42,195,466 T751N possibly damaging Het
Zfp146 A G 7: 30,162,590 I9T probably benign Het
Zfp592 G A 7: 81,037,970 probably benign Het
Zswim8 C T 14: 20,711,887 L243F probably damaging Het
Other mutations in Mars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01803:Mars2 APN 1 55237996 missense probably damaging 1.00
IGL02283:Mars2 APN 1 55238774 missense probably damaging 0.99
IGL02379:Mars2 APN 1 55238053 missense probably damaging 1.00
IGL03047:Mars2 UTSW 1 55238873 missense probably benign
R4581:Mars2 UTSW 1 55237862 missense probably damaging 1.00
R5019:Mars2 UTSW 1 55237309 missense possibly damaging 0.94
R7148:Mars2 UTSW 1 55237514 missense probably damaging 1.00
R7220:Mars2 UTSW 1 55238063 missense probably damaging 1.00
R7358:Mars2 UTSW 1 55237570 missense probably damaging 1.00
R8035:Mars2 UTSW 1 55238297 missense possibly damaging 0.50
R8683:Mars2 UTSW 1 55238582 missense probably benign 0.35
Posted On2015-04-16