Incidental Mutation 'R7267:Mars1'
ID 565011
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.967) question?
Stock # R7267 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 127132090-127147655 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127144455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 195 (V195A)
Ref Sequence ENSEMBL: ENSMUSP00000037446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037290] [ENSMUST00000171564]
AlphaFold Q68FL6
Predicted Effect probably benign
Transcript: ENSMUST00000037290
AA Change: V195A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000037446
Gene: ENSMUSG00000040354
AA Change: V195A

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 benign
Transcript: ENSMUST00000171564
AA Change: V195A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130666
Gene: ENSMUSG00000040354
AA Change: V195A

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: 98.5%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 A G 12: 118,916,205 (GRCm39) I37T probably damaging Het
Ackr2 A G 9: 121,737,874 (GRCm39) Y83C probably damaging Het
Adam19 C T 11: 46,012,403 (GRCm39) Q300* probably null Het
Anxa7 C T 14: 20,519,474 (GRCm39) A115T probably benign Het
Aoc1l3 AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC AGGCCCAGCC 6: 48,964,952 (GRCm39) probably benign Het
Atad2b A T 12: 5,077,105 (GRCm39) R1109* probably null Het
Batf2 A G 19: 6,221,396 (GRCm39) T69A probably benign Het
Best1 A G 19: 9,964,177 (GRCm39) C428R probably benign Het
Birc6 A G 17: 74,892,980 (GRCm39) T973A probably benign Het
Bmp2k C T 5: 97,216,293 (GRCm39) T597I unknown Het
Bmpr1a G A 14: 34,165,836 (GRCm39) P57L possibly damaging Het
Camk2d A T 3: 126,591,379 (GRCm39) H283L possibly damaging Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Ces1b C A 8: 93,806,132 (GRCm39) K36N possibly damaging Het
Ces2a T A 8: 105,465,672 (GRCm39) M308K probably benign Het
Ctnnd2 C A 15: 30,683,501 (GRCm39) Q501K probably benign Het
Cyb561d1 T C 3: 108,106,629 (GRCm39) T197A probably benign Het
Dedd2 C A 7: 24,918,391 (GRCm39) A55S probably damaging Het
Dnah2 C T 11: 69,391,643 (GRCm39) R684Q probably damaging Het
Elovl3 A G 19: 46,122,979 (GRCm39) Y185C probably damaging Het
Fgf3 C T 7: 144,392,569 (GRCm39) A42V probably damaging Het
Gabra5 A G 7: 57,140,529 (GRCm39) L56P probably damaging Het
Gm19410 T G 8: 36,281,997 (GRCm39) V1860G possibly damaging Het
Gm21663 G T 5: 26,143,751 (GRCm39) N190K probably damaging Het
Grm3 T A 5: 9,639,581 (GRCm39) I155L probably benign Het
Hadha A G 5: 30,327,755 (GRCm39) I495T probably damaging Het
Herc4 C T 10: 63,109,365 (GRCm39) A200V possibly damaging Het
Itga3 C A 11: 94,967,188 (GRCm39) probably benign Het
Krt6a C T 15: 101,602,289 (GRCm39) S132N probably benign Het
Lpar1 T C 4: 58,486,857 (GRCm39) N138S possibly damaging Het
Lrrc42 T A 4: 107,096,983 (GRCm39) T247S probably damaging Het
Man2b1 T A 8: 85,813,804 (GRCm39) V256E probably damaging Het
Map3k4 G T 17: 12,490,536 (GRCm39) Y298* probably null Het
Mdm4 A T 1: 132,922,311 (GRCm39) V278E probably benign Het
Mdp1 A G 14: 55,897,544 (GRCm39) V37A probably damaging Het
Med13 A G 11: 86,199,652 (GRCm39) I685T probably benign Het
Mobp A G 9: 119,996,914 (GRCm39) N15S probably damaging Het
Nbn T A 4: 15,979,320 (GRCm39) M435K probably benign Het
Nfs1 A G 2: 155,965,703 (GRCm39) V126A probably benign Het
Npepl1 T A 2: 173,963,909 (GRCm39) V480E probably damaging Het
Nr2e3 G A 9: 59,855,972 (GRCm39) S155F possibly damaging Het
Oplah T C 15: 76,189,209 (GRCm39) D278G probably benign Het
Or4c124 A T 2: 89,156,157 (GRCm39) Y122* probably null Het
Or51q1c A G 7: 103,653,046 (GRCm39) H188R probably benign Het
Pard3 T C 8: 128,098,056 (GRCm39) Y366H probably damaging Het
Pcdhb11 A G 18: 37,555,006 (GRCm39) N112S possibly damaging Het
Pde11a A G 2: 76,168,189 (GRCm39) S255P probably damaging Het
Piezo1 T C 8: 123,224,268 (GRCm39) H745R Het
Pkn2 A T 3: 142,517,776 (GRCm39) S441T possibly damaging Het
Pld1 A C 3: 28,130,550 (GRCm39) H450P probably damaging Het
Plekhs1 T A 19: 56,459,209 (GRCm39) H22Q probably damaging Het
Prss44 A C 9: 110,645,611 (GRCm39) Y285S probably damaging Het
Qpctl T C 7: 18,878,852 (GRCm39) E249G probably benign Het
Rcsd1 A T 1: 165,491,185 (GRCm39) S50T probably damaging Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Scube1 T A 15: 83,505,266 (GRCm39) N496Y probably damaging Het
Skic3 A G 13: 76,328,196 (GRCm39) M1415V probably benign Het
Slc16a8 AGGCC A 15: 79,136,125 (GRCm39) probably null Het
Slc38a4 T A 15: 96,903,781 (GRCm39) T407S probably benign Het
Slc51a T G 16: 32,298,590 (GRCm39) I56L probably benign Het
Slc6a18 T G 13: 73,819,755 (GRCm39) I272L probably damaging Het
Sorl1 A G 9: 42,035,375 (GRCm39) L12P possibly damaging Het
Sycp2l A T 13: 41,300,070 (GRCm39) D428V possibly damaging Het
Syne1 C T 10: 5,178,218 (GRCm39) R4752Q probably damaging Het
Tbc1d9 C A 8: 83,997,957 (GRCm39) H1171Q probably damaging Het
Thsd1 G A 8: 22,733,597 (GRCm39) V215I probably benign Het
Tmem143 T A 7: 45,557,598 (GRCm39) M208K probably benign Het
Tmem63b C T 17: 45,977,048 (GRCm39) V440I probably benign Het
Tnik A T 3: 28,700,776 (GRCm39) S918C probably damaging Het
Ttn A G 2: 76,733,751 (GRCm39) I4508T unknown Het
Vav2 A G 2: 27,173,334 (GRCm39) F497L probably damaging Het
Zc3h14 G A 12: 98,751,988 (GRCm39) R730Q probably damaging Het
Zfp560 G A 9: 20,259,384 (GRCm39) H493Y 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
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
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'- TAAGAAGGTGGCCACAATCAAC -3'
(R):5'- ATGACGGGGAAACTGTAGCC -3'

Sequencing Primer
(F):5'- GGTGGCCACAATCAACATCCG -3'
(R):5'- CGAATATGGCCAGGGTCAC -3'
Posted On 2019-06-26