Incidental Mutation 'IGL01803:Mars2'
ID 155586
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mars2
Ensembl Gene ENSMUSG00000046994
Gene Name methionine-tRNA synthetase 2 (mitochondrial)
Synonyms C730026E21Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01803
Quality Score
Status
Chromosome 1
Chromosomal Location 55276336-55279217 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55277155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 253 (S253G)
Ref Sequence ENSEMBL: ENSMUSP00000049770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061334]
AlphaFold Q499X9
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: 59,085,541 (GRCm39) L532Q probably damaging Het
Bod1l A T 5: 41,974,732 (GRCm39) V2194D probably damaging Het
Cenpf G A 1: 189,386,968 (GRCm39) Q1771* probably null Het
Cfap100 C A 6: 90,392,717 (GRCm39) R131L probably benign Het
Coch A T 12: 51,650,082 (GRCm39) Q357L probably benign Het
Col14a1 A G 15: 55,282,210 (GRCm39) T824A unknown Het
Dnah9 T C 11: 66,009,655 (GRCm39) Y744C probably damaging Het
Dusp13b A G 14: 21,783,907 (GRCm39) V201A probably damaging Het
Egf T A 3: 129,530,415 (GRCm39) H249L probably benign Het
Elmod1 G A 9: 53,838,764 (GRCm39) P132L probably benign Het
Eps8l2 T C 7: 140,938,143 (GRCm39) V459A probably benign Het
Fbn1 T C 2: 125,192,207 (GRCm39) D1434G probably damaging Het
Fbn1 G A 2: 125,143,645 (GRCm39) T2828I probably benign Het
Gbp9 C T 5: 105,242,039 (GRCm39) D173N probably damaging Het
Gbp9 T C 5: 105,232,884 (GRCm39) D256G probably damaging Het
Gpsm1 G A 2: 26,236,921 (GRCm39) A580T probably damaging Het
Hnrnpf T C 6: 117,884,094 (GRCm39) probably benign Het
Krt33a T C 11: 99,902,843 (GRCm39) E327G probably benign Het
M1ap T A 6: 82,982,565 (GRCm39) I283K probably benign Het
Myh6 A T 14: 55,182,000 (GRCm39) M1767K probably damaging Het
Myo3a T A 2: 22,245,926 (GRCm39) D16E probably damaging Het
Pitrm1 T A 13: 6,629,471 (GRCm39) Y978N probably benign Het
Plekha6 G T 1: 133,200,152 (GRCm39) E66* probably null Het
Polk C T 13: 96,641,030 (GRCm39) V176M probably damaging Het
Pom121 G T 5: 135,410,463 (GRCm39) probably benign Het
Rnf213 T A 11: 119,332,133 (GRCm39) D2447E probably damaging Het
Sall3 T C 18: 81,013,047 (GRCm39) M1130V possibly damaging Het
Scn3a A G 2: 65,352,127 (GRCm39) probably benign Het
Sel1l A T 12: 91,797,504 (GRCm39) M241K probably benign Het
Septin4 G A 11: 87,459,075 (GRCm39) S483N probably benign Het
Ssh2 T G 11: 77,316,156 (GRCm39) L259R probably damaging Het
Tnr G T 1: 159,695,813 (GRCm39) G579W probably damaging Het
Vmn1r85 G T 7: 12,818,496 (GRCm39) A216D probably damaging Het
Vmn2r83 C A 10: 79,304,894 (GRCm39) H35N probably benign Het
Zar1l T A 5: 150,441,569 (GRCm39) Y19F probably benign Het
Other mutations in Mars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02283:Mars2 APN 1 55,277,933 (GRCm39) missense probably damaging 0.99
IGL02379:Mars2 APN 1 55,277,212 (GRCm39) missense probably damaging 1.00
IGL02485:Mars2 APN 1 55,276,750 (GRCm39) missense possibly damaging 0.87
IGL03047:Mars2 UTSW 1 55,278,032 (GRCm39) missense probably benign
R4581:Mars2 UTSW 1 55,277,021 (GRCm39) missense probably damaging 1.00
R5019:Mars2 UTSW 1 55,276,468 (GRCm39) missense possibly damaging 0.94
R7148:Mars2 UTSW 1 55,276,673 (GRCm39) missense probably damaging 1.00
R7220:Mars2 UTSW 1 55,277,222 (GRCm39) missense probably damaging 1.00
R7358:Mars2 UTSW 1 55,276,729 (GRCm39) missense probably damaging 1.00
R8035:Mars2 UTSW 1 55,277,456 (GRCm39) missense possibly damaging 0.50
R8683:Mars2 UTSW 1 55,277,741 (GRCm39) missense probably benign 0.35
R9075:Mars2 UTSW 1 55,278,154 (GRCm39) missense probably damaging 0.97
R9133:Mars2 UTSW 1 55,276,721 (GRCm39) missense possibly damaging 0.75
R9370:Mars2 UTSW 1 55,276,624 (GRCm39) missense probably benign 0.26
Posted On 2014-02-04