Incidental Mutation 'R9607:Mars1'
ID 723954
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R9607 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 127132090-127147655 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 127144493 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 182 (C182*)
Ref Sequence ENSEMBL: ENSMUSP00000037446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037290] [ENSMUST00000171564]
AlphaFold Q68FL6
Predicted Effect probably null
Transcript: ENSMUST00000037290
AA Change: C182*
SMART Domains Protein: ENSMUSP00000037446
Gene: ENSMUSG00000040354
AA Change: C182*

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 probably null
Transcript: ENSMUST00000171564
AA Change: C182*
SMART Domains Protein: ENSMUSP00000130666
Gene: ENSMUSG00000040354
AA Change: C182*

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,914,068 (GRCm39) probably null Het
Atp8a1 T C 5: 67,817,250 (GRCm39) Y927C Het
Bckdhb A G 9: 83,871,344 (GRCm39) I208V probably benign Het
Cacna1g T C 11: 94,356,714 (GRCm39) I141V probably benign Het
Celsr1 A G 15: 85,915,229 (GRCm39) S915P Het
Celsr3 G A 9: 108,717,701 (GRCm39) probably null Het
Cep295 A T 9: 15,234,009 (GRCm39) D2262E probably damaging Het
Chil3 T C 3: 106,067,685 (GRCm39) K160R probably null Het
Cmtr1 G T 17: 29,893,196 (GRCm39) A72S probably benign Het
Cpa5 T C 6: 30,626,338 (GRCm39) F233S probably damaging Het
Creb3l3 G A 10: 80,920,735 (GRCm39) R432W probably damaging Het
Csdc2 A G 15: 81,831,088 (GRCm39) D45G possibly damaging Het
Csmd3 G T 15: 47,618,811 (GRCm39) T1859K probably damaging Het
Cxxc1 T C 18: 74,353,479 (GRCm39) probably null Het
Dcc A G 18: 71,721,072 (GRCm39) S430P probably damaging Het
Dera T G 6: 137,833,732 (GRCm39) S270A unknown Het
Dnaaf1 A G 8: 120,309,350 (GRCm39) E146G possibly damaging Het
Dsg4 A T 18: 20,586,047 (GRCm39) T246S probably benign Het
Eif4g3 A G 4: 137,893,045 (GRCm39) E766G probably benign Het
Ep400 A C 5: 110,831,805 (GRCm39) C2146G unknown Het
Epas1 A T 17: 87,134,038 (GRCm39) T516S probably benign Het
Espn A G 4: 152,219,939 (GRCm39) S395P probably benign Het
Fam124b T A 1: 80,190,813 (GRCm39) Q190L probably damaging Het
Filip1 T A 9: 79,726,402 (GRCm39) D739V probably damaging Het
Flg2 A G 3: 93,108,719 (GRCm39) Y249C probably damaging Het
Gon4l T A 3: 88,765,751 (GRCm39) S391T probably damaging Het
Hoxa5 G T 6: 52,181,196 (GRCm39) Y45* probably null Het
Ift172 A G 5: 31,410,913 (GRCm39) F1715S Het
Klhdc9 T A 1: 171,187,124 (GRCm39) H262L probably damaging Het
Krt16 C A 11: 100,138,453 (GRCm39) D232Y probably damaging Het
Lrrd1 A G 5: 3,901,561 (GRCm39) E622G probably damaging Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Msrb2 C A 2: 19,399,130 (GRCm39) N164K probably damaging Het
Mtcl2 T G 2: 156,869,488 (GRCm39) E1049A probably damaging Het
Muc2 T A 7: 141,305,190 (GRCm39) C604S Het
Mup17 T C 4: 61,511,903 (GRCm39) I124V probably benign Het
Myo18b T C 5: 113,022,544 (GRCm39) M283V unknown Het
Ndn C T 7: 61,998,337 (GRCm39) P61L possibly damaging Het
Nepro T C 16: 44,551,832 (GRCm39) L230P probably damaging Het
Nes A G 3: 87,883,513 (GRCm39) N591D probably benign Het
Nfrkb T C 9: 31,326,066 (GRCm39) S1170P possibly damaging Het
Nphs1 A T 7: 30,163,012 (GRCm39) T430S probably damaging Het
Nrp1 T C 8: 129,152,262 (GRCm39) V157A probably benign Het
Nup188 T A 2: 30,197,724 (GRCm39) D259E probably benign Het
Or52n5 T C 7: 104,588,207 (GRCm39) M158T probably benign Het
Or5b109 A T 19: 13,211,953 (GRCm39) N113I Het
Or8b1c A G 9: 38,384,913 (GRCm39) Y290C probably damaging Het
Or9s18 G T 13: 65,300,885 (GRCm39) M282I probably benign Het
Pcdha8 T A 18: 37,126,217 (GRCm39) L233Q probably damaging Het
Pcdhga12 T A 18: 37,901,389 (GRCm39) F740L probably damaging Het
Pglyrp4 G A 3: 90,638,151 (GRCm39) G155D probably damaging Het
Piezo2 G A 18: 63,519,347 (GRCm39) probably benign Het
Pirb G A 7: 3,720,617 (GRCm39) R294C possibly damaging Het
Ppil1 A T 17: 29,470,481 (GRCm39) *167K probably null Het
Prdm10 G T 9: 31,260,486 (GRCm39) D647Y probably damaging Het
Prkn A G 17: 12,222,963 (GRCm39) Y371C probably damaging Het
Prrc2b T A 2: 32,098,794 (GRCm39) I702N probably damaging Het
Rnf26rt A T 6: 76,473,923 (GRCm39) L231* probably null Het
Rtp4 T A 16: 23,339,226 (GRCm39) probably null Het
Sema6c A G 3: 95,076,545 (GRCm39) H277R probably benign Het
Slc14a1 C A 18: 78,152,807 (GRCm39) A367S probably damaging Het
Slc41a2 A G 10: 83,119,631 (GRCm39) L377P probably damaging Het
Svil T C 18: 5,058,126 (GRCm39) Y630H possibly damaging Het
Tbata A G 10: 61,011,626 (GRCm39) H54R probably benign Het
Tnfaip2 C A 12: 111,412,069 (GRCm39) Q157K possibly damaging Het
Trappc14 T C 5: 138,259,862 (GRCm39) D398G probably damaging Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Vmn2r74 T A 7: 85,610,619 (GRCm39) R24S probably benign Het
Vmn2r90 G A 17: 17,953,638 (GRCm39) V601M possibly damaging Het
Vmn2r-ps117 A G 17: 19,043,940 (GRCm39) T339A probably benign Het
Xirp2 C T 2: 67,341,106 (GRCm39) H1116Y possibly damaging Het
Xrcc1 A G 7: 24,265,690 (GRCm39) D156G probably benign 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
R1445:Mars1 UTSW 10 127,133,857 (GRCm39) missense possibly damaging 0.75
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
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'- GAAGGTGGCCACAATCAACATC -3'
(R):5'- ATGACGGGGAAACTGTAGCC -3'

Sequencing Primer
(F):5'- TCCCAGACACCTTCTACCTAAG -3'
(R):5'- CGAATATGGCCAGGGTCAC -3'
Posted On 2022-09-12