Incidental Mutation 'R1445:Mars1'
ID 158803
Institutional Source Beutler Lab
Gene Symbol Mars1
Ensembl Gene ENSMUSG00000040354
Gene Name methionine-tRNA synthetase 1
Synonyms MetRS, Mars, methionine tRNA ligase, methionyl-tRNA synthetase
MMRRC Submission 039500-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R1445 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 127132090-127147655 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 127133857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 680 (D680G)
Ref Sequence ENSEMBL: ENSMUSP00000130666 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026475] [ENSMUST00000037290] [ENSMUST00000139091] [ENSMUST00000171564] [ENSMUST00000230446]
AlphaFold Q68FL6
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 possibly damaging
Transcript: ENSMUST00000037290
AA Change: D680G

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000037446
Gene: ENSMUSG00000040354
AA Change: D680G

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 possibly damaging
Transcript: ENSMUST00000171564
AA Change: D680G

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000130666
Gene: ENSMUSG00000040354
AA Change: D680G

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 noncoding transcript
Transcript: ENSMUST00000145275
Predicted Effect probably benign
Transcript: ENSMUST00000230446
Meta Mutation Damage Score 0.1581 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 93.9%
  • 20x: 84.0%
Validation Efficiency 96% (101/105)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061I17Rik G T 3: 116,861,385 (GRCm39) noncoding transcript Het
2300003K06Rik G T 11: 99,728,793 (GRCm39) Q17K probably benign Het
Abca16 T C 7: 120,119,256 (GRCm39) V999A probably benign Het
Actn3 C T 19: 4,915,483 (GRCm39) probably benign Het
Agap2 T A 10: 126,926,981 (GRCm39) probably benign Het
Ago3 C A 4: 126,265,580 (GRCm39) R278L probably benign Het
Aldh1a2 T C 9: 71,192,492 (GRCm39) V449A possibly damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Aplnr A G 2: 84,967,353 (GRCm39) Y126C probably damaging Het
Apob T C 12: 8,066,084 (GRCm39) I4351T possibly damaging Het
Ash1l T C 3: 88,914,659 (GRCm39) L1763P probably benign Het
Aspn T C 13: 49,710,849 (GRCm39) S165P possibly damaging Het
Atg13 A T 2: 91,510,335 (GRCm39) V349E probably damaging Het
Atp1b2 T A 11: 69,493,309 (GRCm39) probably null Het
B3glct A T 5: 149,677,604 (GRCm39) D411V probably damaging Het
Bcar3 A T 3: 122,316,840 (GRCm39) I255F probably damaging Het
Cacna1b G A 2: 24,608,148 (GRCm39) probably benign Het
Cep164 T G 9: 45,690,198 (GRCm39) E675A possibly damaging Het
Chd1l C T 3: 97,490,047 (GRCm39) E503K probably benign Het
Chst8 C A 7: 34,447,593 (GRCm39) M8I possibly damaging Het
Clec4n A G 6: 123,212,475 (GRCm39) E67G probably benign Het
Cobll1 A T 2: 64,929,480 (GRCm39) D653E probably damaging Het
Col9a1 T C 1: 24,276,579 (GRCm39) probably null Het
Crip2 T C 12: 113,107,124 (GRCm39) L30P probably damaging Het
Ctbp1 C T 5: 33,418,407 (GRCm39) V22I probably benign Het
Cwc22 T C 2: 77,747,521 (GRCm39) probably benign Het
Cyp4a32 C A 4: 115,460,147 (GRCm39) Y119* probably null Het
Dido1 G T 2: 180,313,263 (GRCm39) A463E possibly damaging Het
Dnah7a G A 1: 53,567,956 (GRCm39) P1880L probably benign Het
Dock2 T A 11: 34,189,705 (GRCm39) T1489S probably benign Het
Dsp A G 13: 38,375,907 (GRCm39) T1231A probably damaging Het
Eif2ak1 G T 5: 143,810,717 (GRCm39) probably benign Het
Entrep1 G A 19: 23,998,998 (GRCm39) T140M probably damaging Het
Epc1 A T 18: 6,452,360 (GRCm39) M233K probably damaging Het
Gigyf2 A G 1: 87,371,360 (GRCm39) probably benign Het
Greb1 T G 12: 16,757,852 (GRCm39) H58P probably damaging Het
Gtpbp1 T C 15: 79,597,649 (GRCm39) I348T possibly damaging Het
Hck A T 2: 152,970,192 (GRCm39) N64Y probably benign Het
Herc2 T C 7: 55,818,744 (GRCm39) S2812P probably damaging Het
Inpp4b T A 8: 82,679,463 (GRCm39) probably null Het
Kcnq5 A C 1: 21,475,248 (GRCm39) S473A probably benign Het
Lrat T G 3: 82,810,676 (GRCm39) D115A probably damaging Het
Lyst A G 13: 13,814,639 (GRCm39) I1131M possibly damaging Het
Man2a2 T C 7: 80,018,310 (GRCm39) D160G probably benign Het
Marf1 C T 16: 13,933,688 (GRCm39) D1567N probably benign Het
Mat1a T C 14: 40,843,797 (GRCm39) S339P probably damaging Het
Megf8 T C 7: 25,042,081 (GRCm39) S1300P probably damaging Het
Mga T C 2: 119,733,179 (GRCm39) L9S probably damaging Het
Mllt6 T C 11: 97,563,277 (GRCm39) probably benign Het
Mrpl37 A G 4: 106,921,692 (GRCm39) L179P probably benign Het
Mtnr1a G T 8: 45,540,782 (GRCm39) V248L probably benign Het
Mylk T C 16: 34,635,835 (GRCm39) S19P possibly damaging Het
Or11g1 A G 14: 50,651,858 (GRCm39) T286A probably damaging Het
Pacc1 A G 1: 191,080,559 (GRCm39) probably benign Het
Parp8 A T 13: 117,161,886 (GRCm39) probably null Het
Pcnx2 T C 8: 126,479,023 (GRCm39) D2075G probably damaging Het
Pigo A T 4: 43,021,460 (GRCm39) I494K probably benign Het
Pkd1l1 A T 11: 8,820,313 (GRCm39) D1217E probably benign Het
Pkhd1l1 T C 15: 44,369,040 (GRCm39) V895A probably benign Het
Plcb4 A T 2: 135,842,109 (GRCm39) H1031L possibly damaging Het
Plxnb1 A G 9: 108,937,989 (GRCm39) K1245R probably null Het
Pold1 C T 7: 44,192,181 (GRCm39) probably benign Het
Ptprq T C 10: 107,498,423 (GRCm39) I885V probably damaging Het
Ptprz1 A G 6: 23,050,473 (GRCm39) D1398G probably damaging Het
Pygm G A 19: 6,439,917 (GRCm39) A364T probably benign Het
Rbl1 T C 2: 157,035,018 (GRCm39) N354S probably benign Het
Scgb2b19 C T 7: 32,979,037 (GRCm39) probably null Het
Slc26a8 C T 17: 28,867,187 (GRCm39) V545M possibly damaging Het
Slc27a1 T A 8: 72,036,757 (GRCm39) probably null Het
Smpd1 A G 7: 105,205,881 (GRCm39) D416G possibly damaging Het
Sorbs3 A G 14: 70,431,095 (GRCm39) V284A probably benign Het
Stfa2l1 T C 16: 35,982,154 (GRCm39) V75A probably damaging Het
Syndig1 A G 2: 149,772,841 (GRCm39) D166G probably damaging Het
Tcp10a G A 17: 7,593,406 (GRCm39) probably null Het
Themis2 T A 4: 132,510,212 (GRCm39) I663F possibly damaging Het
Thrap3 T C 4: 126,070,129 (GRCm39) Q586R probably damaging Het
Tinag C A 9: 76,952,798 (GRCm39) C62F probably damaging Het
Tmod1 T C 4: 46,090,884 (GRCm39) Y146H probably damaging Het
Tmprss4 T A 9: 45,095,683 (GRCm39) I54F possibly damaging Het
Tnks A C 8: 35,301,757 (GRCm39) probably benign Het
Trim43a GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT 9: 88,465,042 (GRCm39) probably benign Het
Trpc6 A G 9: 8,680,538 (GRCm39) E844G probably benign Het
Ubtd2 C T 11: 32,466,125 (GRCm39) R115W probably damaging Het
Ubxn6 T C 17: 56,376,042 (GRCm39) D373G probably benign Het
Upf1 T A 8: 70,794,174 (GRCm39) Q244L probably benign Het
Usp33 A G 3: 152,074,271 (GRCm39) I372M probably damaging Het
Usp34 A G 11: 23,301,629 (GRCm39) E351G probably damaging Het
Utrn A G 10: 12,554,318 (GRCm39) probably benign Het
Vmn1r78 A G 7: 11,886,508 (GRCm39) K40E possibly damaging Het
Vmn2r7 T A 3: 64,632,223 (GRCm39) M80L probably benign Het
Vps13a G T 19: 16,678,602 (GRCm39) Y1126* probably null Het
Wfdc11 T C 2: 164,506,366 (GRCm39) N60S probably benign Het
Wnk2 C T 13: 49,224,586 (GRCm39) D992N probably damaging Het
Zpbp2 C A 11: 98,444,670 (GRCm39) T66K probably damaging Het
Other mutations in Mars1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Mars1 APN 10 127,133,875 (GRCm39) missense probably benign 0.31
IGL00813:Mars1 APN 10 127,135,916 (GRCm39) missense probably damaging 1.00
IGL01292:Mars1 APN 10 127,141,387 (GRCm39) missense probably damaging 1.00
IGL01718:Mars1 APN 10 127,141,707 (GRCm39) missense possibly damaging 0.95
IGL02505:Mars1 APN 10 127,140,113 (GRCm39) nonsense probably null
IGL02986:Mars1 APN 10 127,133,438 (GRCm39) missense probably benign 0.09
menschen UTSW 10 127,132,549 (GRCm39) unclassified probably benign
PIT4366001:Mars1 UTSW 10 127,135,267 (GRCm39) missense possibly damaging 0.72
R0149:Mars1 UTSW 10 127,135,903 (GRCm39) missense probably damaging 1.00
R1702:Mars1 UTSW 10 127,145,948 (GRCm39) missense possibly damaging 0.52
R1998:Mars1 UTSW 10 127,138,740 (GRCm39) missense probably benign
R1998:Mars1 UTSW 10 127,136,347 (GRCm39) nonsense probably null
R2089:Mars1 UTSW 10 127,135,154 (GRCm39) missense probably damaging 1.00
R2091:Mars1 UTSW 10 127,135,154 (GRCm39) missense probably damaging 1.00
R2091:Mars1 UTSW 10 127,135,154 (GRCm39) missense probably damaging 1.00
R4597:Mars1 UTSW 10 127,136,322 (GRCm39) missense probably damaging 1.00
R4809:Mars1 UTSW 10 127,136,084 (GRCm39) missense probably damaging 1.00
R4923:Mars1 UTSW 10 127,132,549 (GRCm39) unclassified probably benign
R5563:Mars1 UTSW 10 127,144,530 (GRCm39) missense probably benign
R5890:Mars1 UTSW 10 127,133,914 (GRCm39) missense probably benign 0.04
R5895:Mars1 UTSW 10 127,132,418 (GRCm39) missense probably benign 0.01
R5986:Mars1 UTSW 10 127,140,171 (GRCm39) nonsense probably null
R6300:Mars1 UTSW 10 127,132,429 (GRCm39) missense probably benign 0.00
R7267:Mars1 UTSW 10 127,144,455 (GRCm39) missense probably benign
R7544:Mars1 UTSW 10 127,147,479 (GRCm39) missense probably benign 0.24
R7573:Mars1 UTSW 10 127,138,679 (GRCm39) critical splice donor site probably null
R7740:Mars1 UTSW 10 127,136,444 (GRCm39) missense probably benign 0.16
R7884:Mars1 UTSW 10 127,136,114 (GRCm39) missense probably damaging 0.99
R8286:Mars1 UTSW 10 127,141,348 (GRCm39) missense probably benign 0.35
R8397:Mars1 UTSW 10 127,136,368 (GRCm39) missense possibly damaging 0.48
R9174:Mars1 UTSW 10 127,135,237 (GRCm39) missense probably damaging 1.00
R9607:Mars1 UTSW 10 127,144,493 (GRCm39) nonsense probably null
R9662:Mars1 UTSW 10 127,136,349 (GRCm39) missense probably damaging 1.00
X0027:Mars1 UTSW 10 127,144,218 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACAGCAAGGCAGCCATGTTCAC -3'
(R):5'- CCAGGAATTGTCAGGCTTATGCAGG -3'

Sequencing Primer
(F):5'- CAGGGCTCATTCACTTGAATGTATTG -3'
(R):5'- caccacggagatgccag -3'
Posted On 2014-03-14