Incidental Mutation 'IGL01803:Mars2'
ID155586
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 #IGL01803
Quality Score
Status
Chromosome1
Chromosomal Location55237177-55248470 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 55237996 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 253 (S253G)
Ref Sequence ENSEMBL: ENSMUSP00000049770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061334]
Predicted Effect probably damaging
Transcript: ENSMUST00000061334
AA Change: S253G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049770
Gene: ENSMUSG00000046994
AA Change: S253G

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 58,952,469 L532Q probably damaging Het
Bod1l A T 5: 41,817,389 V2194D probably damaging Het
Cenpf G A 1: 189,654,771 Q1771* probably null Het
Cfap100 C A 6: 90,415,735 R131L probably benign Het
Coch A T 12: 51,603,299 Q357L probably benign Het
Col14a1 A G 15: 55,418,814 T824A unknown Het
Dnah9 T C 11: 66,118,829 Y744C probably damaging Het
Dusp13 A G 14: 21,733,839 V201A probably damaging Het
Egf T A 3: 129,736,766 H249L probably benign Het
Elmod1 G A 9: 53,931,480 P132L probably benign Het
Eps8l2 T C 7: 141,358,230 V459A probably benign Het
Fbn1 T C 2: 125,350,287 D1434G probably damaging Het
Fbn1 G A 2: 125,301,725 T2828I probably benign Het
Gbp9 C T 5: 105,094,173 D173N probably damaging Het
Gbp9 T C 5: 105,085,018 D256G probably damaging Het
Gm11492 G A 11: 87,568,249 S483N probably benign Het
Gpsm1 G A 2: 26,346,909 A580T probably damaging Het
Hnrnpf T C 6: 117,907,133 probably benign Het
Krt33a T C 11: 100,012,017 E327G probably benign Het
M1ap T A 6: 83,005,584 I283K probably benign Het
Myh6 A T 14: 54,944,543 M1767K probably damaging Het
Myo3a T A 2: 22,241,115 D16E probably damaging Het
Pitrm1 T A 13: 6,579,435 Y978N probably benign Het
Plekha6 G T 1: 133,272,414 E66* probably null Het
Polk C T 13: 96,504,522 V176M probably damaging Het
Pom121 G T 5: 135,381,609 probably benign Het
Rnf213 T A 11: 119,441,307 D2447E probably damaging Het
Sall3 T C 18: 80,969,832 M1130V possibly damaging Het
Scn3a A G 2: 65,521,783 probably benign Het
Sel1l A T 12: 91,830,730 M241K probably benign Het
Ssh2 T G 11: 77,425,330 L259R probably damaging Het
Tnr G T 1: 159,868,243 G579W probably damaging Het
Vmn1r85 G T 7: 13,084,569 A216D probably damaging Het
Vmn2r83 C A 10: 79,469,060 H35N probably benign Het
Zar1l T A 5: 150,518,104 Y19F probably benign Het
Other mutations in Mars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02283:Mars2 APN 1 55238774 missense probably damaging 0.99
IGL02379:Mars2 APN 1 55238053 missense probably damaging 1.00
IGL02485:Mars2 APN 1 55237591 missense possibly damaging 0.87
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
Posted On2014-02-04