Incidental Mutation 'IGL00230:Mars'
ID2237
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mars
Ensembl Gene ENSMUSG00000040354
Gene Namemethionine-tRNA synthetase
Synonymsmethionine tRNA ligase, MetRS, methionyl-tRNA synthetase
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.971) question?
Stock #IGL00230
Quality Score
Status
Chromosome10
Chromosomal Location127296221-127311786 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 127298006 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 674 (M674T)
Ref Sequence ENSEMBL: ENSMUSP00000130666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026475] [ENSMUST00000037290] [ENSMUST00000139091] [ENSMUST00000171564] [ENSMUST00000230446]
Predicted Effect probably benign
Transcript: ENSMUST00000026475
SMART Domains Protein: ENSMUSP00000026475
Gene: ENSMUSG00000025408

DomainStartEndE-ValueType
low complexity region 73 88 N/A INTRINSIC
BRLZ 94 160 1.23e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000037290
AA Change: M674T

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000037446
Gene: ENSMUSG00000040354
AA Change: M674T

DomainStartEndE-ValueType
PDB:4BL7|A 1 220 1e-118 PDB
low complexity region 221 233 N/A INTRINSIC
Pfam:tRNA-synt_1g 268 660 6.8e-142 PFAM
WHEP-TRS 847 902 7.95e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134686
Predicted Effect probably benign
Transcript: ENSMUST00000134778
SMART Domains Protein: ENSMUSP00000118031
Gene: ENSMUSG00000040354

DomainStartEndE-ValueType
SCOP:d1f4la1 5 91 2e-10 SMART
WHEP-TRS 129 184 7.95e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139091
SMART Domains Protein: ENSMUSP00000118339
Gene: ENSMUSG00000025408

DomainStartEndE-ValueType
low complexity region 73 88 N/A INTRINSIC
BRLZ 94 160 1.23e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139683
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145275
Predicted Effect probably benign
Transcript: ENSMUST00000171564
AA Change: M674T

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000130666
Gene: ENSMUSG00000040354
AA Change: M674T

DomainStartEndE-ValueType
low complexity region 17 26 N/A INTRINSIC
Pfam:GST_C 94 180 1e-6 PFAM
low complexity region 205 213 N/A INTRINSIC
low complexity region 221 233 N/A INTRINSIC
Pfam:tRNA-synt_1g 268 660 9.6e-149 PFAM
WHEP-TRS 855 910 7.95e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000230446
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The encoded protein belongs to the class I family of tRNA synthetases, a class of enzymes that charge tRNAs with their cognate amino acids. The related human gene product is essential for the translation initiation of mRNAs. This gene has an overlapping 3' UTR tail-to-tail arrangement with an adjacent gene on the opposite strand that encodes an inhibitor of the CCAAT/enhancer-binding protein's DNA binding activity. This arrangement, conserved in human and mouse, may be involved in mRNA stability and possible functional and regulatory interaction of these adjacent overlapping genes. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2010]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bin1 C T 18: 32,420,107 A215V probably damaging Het
Cyp2j6 C T 4: 96,536,046 R158H possibly damaging Het
Dnaaf2 T C 12: 69,196,766 D507G probably benign Het
Fam13b T C 18: 34,487,096 E245G possibly damaging Het
Gal3st1 A T 11: 3,999,070 probably benign Het
Galnt5 A T 2: 57,998,973 Q195L probably benign Het
Gfm2 A G 13: 97,155,442 T229A probably benign Het
Gigyf1 A G 5: 137,522,745 probably benign Het
Gm4353 G T 7: 116,083,554 T264K probably damaging Het
Gsk3b A T 16: 38,228,707 I389F probably benign Het
Hist1h2bm G T 13: 21,722,375 R93L possibly damaging Het
Htt A G 5: 34,799,408 T194A probably benign Het
Ighg3 T C 12: 113,359,837 Y273C unknown Het
Kdm5b T A 1: 134,620,955 V1066D probably damaging Het
Kif1a G T 1: 93,054,934 A707E probably damaging Het
Maats1 A G 16: 38,336,342 probably null Het
Mas1 T C 17: 12,841,990 D182G probably benign Het
Metap1d T A 2: 71,512,162 D178E probably damaging Het
Nhsl1 T A 10: 18,527,609 D1329E probably benign Het
Ninl T C 2: 150,966,241 E289G probably damaging Het
Pmel G T 10: 128,716,089 G264V possibly damaging Het
Ruvbl1 T C 6: 88,484,403 probably benign Het
Scn8a T A 15: 100,955,532 probably benign Het
Sept9 T C 11: 117,354,804 probably benign Het
Sgpp1 G T 12: 75,716,194 Y404* probably null Het
Sgsm1 T C 5: 113,245,064 I788V probably benign Het
Slc13a4 A T 6: 35,289,824 M112K probably benign Het
Slc22a29 T C 19: 8,217,813 M153V probably benign Het
Slc9c1 T G 16: 45,573,389 V565G possibly damaging Het
Sox4 C A 13: 28,952,973 G17W probably damaging Het
Tec C T 5: 72,768,768 A314T probably damaging Het
Tg A G 15: 66,827,290 I803V probably benign Het
Trav9-1 A T 14: 53,488,393 I55F probably benign Het
Ttll12 C A 15: 83,578,656 E536D probably benign Het
Ubqln1 C A 13: 58,177,992 E152* probably null Het
Wwtr1 G A 3: 57,463,491 T338I probably benign Het
Zdhhc16 T C 19: 41,939,660 F206S probably benign Het
Other mutations in Mars
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00813:Mars APN 10 127300047 missense probably damaging 1.00
IGL01292:Mars APN 10 127305518 missense probably damaging 1.00
IGL01718:Mars APN 10 127305838 missense possibly damaging 0.95
IGL02505:Mars APN 10 127304244 nonsense probably null
IGL02986:Mars APN 10 127297569 missense probably benign 0.09
menschen UTSW 10 127296680 unclassified probably benign
PIT4366001:Mars UTSW 10 127299398 missense possibly damaging 0.72
R0149:Mars UTSW 10 127300034 missense probably damaging 1.00
R1445:Mars UTSW 10 127297988 missense possibly damaging 0.75
R1702:Mars UTSW 10 127310079 missense possibly damaging 0.52
R1998:Mars UTSW 10 127300478 nonsense probably null
R1998:Mars UTSW 10 127302871 missense probably benign
R2089:Mars UTSW 10 127299285 missense probably damaging 1.00
R2091:Mars UTSW 10 127299285 missense probably damaging 1.00
R2091:Mars UTSW 10 127299285 missense probably damaging 1.00
R4597:Mars UTSW 10 127300453 missense probably damaging 1.00
R4809:Mars UTSW 10 127300215 missense probably damaging 1.00
R4923:Mars UTSW 10 127296680 unclassified probably benign
R5563:Mars UTSW 10 127308661 missense probably benign
R5890:Mars UTSW 10 127298045 missense probably benign 0.04
R5895:Mars UTSW 10 127296549 missense probably benign 0.01
R5986:Mars UTSW 10 127304302 nonsense probably null
R6300:Mars UTSW 10 127296560 missense probably benign 0.00
R7267:Mars UTSW 10 127308586 missense probably benign
R7544:Mars UTSW 10 127311610 missense probably benign 0.24
R7573:Mars UTSW 10 127302810 critical splice donor site probably null
R7740:Mars UTSW 10 127300575 missense probably benign 0.16
R7884:Mars UTSW 10 127300245 missense probably damaging 0.99
R8286:Mars UTSW 10 127305479 missense probably benign 0.35
R8397:Mars UTSW 10 127300499 missense possibly damaging 0.48
X0027:Mars UTSW 10 127308349 missense probably benign 0.00
Posted On2011-12-09