Incidental Mutation 'IGL02379:Mars2'
ID 291288
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 # IGL02379
Quality Score
Status
Chromosome 1
Chromosomal Location 55276336-55279217 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55277212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 272 (W272R)
Ref Sequence ENSEMBL: ENSMUSP00000049770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061334]
AlphaFold Q499X9
Predicted Effect probably damaging
Transcript: ENSMUST00000061334
AA Change: W272R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049770
Gene: ENSMUSG00000046994
AA Change: W272R

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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T A 5: 121,760,106 (GRCm39) I996F probably damaging Het
Adamts9 T A 6: 92,774,014 (GRCm39) D1133V probably damaging Het
Adi1 T A 12: 28,729,466 (GRCm39) D106E probably damaging Het
Agl A G 3: 116,572,740 (GRCm39) F837S probably damaging Het
Alb T A 5: 90,613,738 (GRCm39) D207E probably benign Het
Alms1 T G 6: 85,606,615 (GRCm39) V2286G probably damaging Het
Alpl G A 4: 137,469,869 (GRCm39) A485V probably damaging Het
Antxrl C A 14: 33,778,492 (GRCm39) probably null Het
Apc C T 18: 34,431,798 (GRCm39) T417I probably benign Het
Ash2l T C 8: 26,312,799 (GRCm39) D390G probably damaging Het
Asph G A 4: 9,474,980 (GRCm39) P582S probably damaging Het
Bcr T A 10: 74,992,980 (GRCm39) L825Q probably benign Het
Bhlha15 T A 5: 144,128,159 (GRCm39) N90K probably damaging Het
Cgnl1 T A 9: 71,552,835 (GRCm39) Y1043F possibly damaging Het
Chek1 T C 9: 36,635,242 (GRCm39) D47G probably benign Het
Clca4b T A 3: 144,627,619 (GRCm39) M451L probably benign Het
Csnk1g3 T C 18: 54,066,564 (GRCm39) S346P probably benign Het
Cspg4 G T 9: 56,799,893 (GRCm39) probably benign Het
Ctr9 A G 7: 110,650,726 (GRCm39) K884E probably damaging Het
Cyld T A 8: 89,471,556 (GRCm39) C813* probably null Het
Fn3k A T 11: 121,325,950 (GRCm39) T46S probably benign Het
Foxred1 T C 9: 35,121,282 (GRCm39) R89G probably benign Het
Gpr174 T C X: 106,337,084 (GRCm39) F299L probably damaging Het
Hdac7 T C 15: 97,706,266 (GRCm39) D312G probably damaging Het
Il36b A G 2: 24,044,650 (GRCm39) S17G probably benign Het
Kcna5 G T 6: 126,511,472 (GRCm39) P219T probably damaging Het
Kcnh2 A C 5: 24,531,636 (GRCm39) V425G probably damaging Het
Klk1b5 A G 7: 43,500,246 (GRCm39) N278S probably damaging Het
Msl3l2 C A 10: 55,992,017 (GRCm39) S247R possibly damaging Het
Myh7 T C 14: 55,216,925 (GRCm39) E1144G probably damaging Het
Nefm T C 14: 68,357,688 (GRCm39) probably benign Het
Nwd2 A G 5: 63,962,644 (GRCm39) K743E probably damaging Het
Nyap2 C T 1: 81,065,147 (GRCm39) T53I probably damaging Het
Odad4 A T 11: 100,457,809 (GRCm39) N471Y possibly damaging Het
Or10ag58 T C 2: 87,265,668 (GRCm39) V279A probably benign Het
Or52z12 T C 7: 103,234,099 (GRCm39) V290A possibly damaging Het
Peli2 A G 14: 48,405,755 (GRCm39) H60R probably damaging Het
Pias2 T A 18: 77,232,844 (GRCm39) probably benign Het
Pik3c2b A G 1: 133,022,529 (GRCm39) D1157G probably damaging Het
Pip4k2a C T 2: 18,870,922 (GRCm39) probably null Het
Raf1 A T 6: 115,621,509 (GRCm39) D23E probably benign Het
Rhox10 G A X: 37,155,733 (GRCm39) R87H probably benign Het
Rpgrip1 A G 14: 52,376,345 (GRCm39) T449A possibly damaging Het
Serpina3a T A 12: 104,084,919 (GRCm39) S105T probably benign Het
Slc12a9 T G 5: 137,319,691 (GRCm39) Q608P probably damaging Het
Smg6 C A 11: 74,944,751 (GRCm39) P167T probably damaging Het
Spata7 C T 12: 98,600,519 (GRCm39) T44I probably damaging Het
Spink12 C T 18: 44,239,575 (GRCm39) probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stag2 C T X: 41,339,474 (GRCm39) T754I probably benign Het
Supt6 C T 11: 78,116,195 (GRCm39) V723M possibly damaging Het
Ubr3 A G 2: 69,778,832 (GRCm39) D614G possibly damaging Het
Vps39 T A 2: 120,154,089 (GRCm39) K624N probably benign Het
Vwa5b1 A T 4: 138,340,170 (GRCm39) L29Q probably damaging Het
Wtap G A 17: 13,188,336 (GRCm39) A188V probably benign Het
Zc3hc1 A G 6: 30,390,974 (GRCm39) F5L probably benign Het
Zfp655 C T 5: 145,180,765 (GRCm39) P208S probably benign Het
Zswim3 A T 2: 164,662,602 (GRCm39) probably null Het
Other mutations in Mars2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01803:Mars2 APN 1 55,277,155 (GRCm39) missense probably damaging 1.00
IGL02283:Mars2 APN 1 55,277,933 (GRCm39) missense probably damaging 0.99
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 2015-04-16