Incidental Mutation 'PIT4366001:Mars1'
ID 554770
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 # PIT4366001 (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 127135267 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 608 (M608T)
Ref Sequence ENSEMBL: ENSMUSP00000037446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026475] [ENSMUST00000037290] [ENSMUST00000139091] [ENSMUST00000171564]
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: M608T

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000037446
Gene: ENSMUSG00000040354
AA Change: M608T

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: 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 possibly damaging
Transcript: ENSMUST00000171564
AA Change: M608T

PolyPhen 2 Score 0.717 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000130666
Gene: ENSMUSG00000040354
AA Change: M608T

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: 93.0%
  • 3x: 90.7%
  • 10x: 85.5%
  • 20x: 73.8%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk C A 11: 119,901,786 (GRCm39) S870I possibly damaging Het
Abca13 T C 11: 9,244,962 (GRCm39) V2275A probably benign Het
Abcb5 T C 12: 118,899,833 (GRCm39) K278R probably damaging Het
Adcy2 TA TAA 13: 68,858,109 (GRCm39) probably benign Het
Add3 C T 19: 53,205,298 (GRCm39) P16L unknown Het
Akap9 T A 5: 4,096,221 (GRCm39) D2365E probably benign Het
Asah1 A G 8: 41,796,783 (GRCm39) S300P possibly damaging Het
Astn1 A T 1: 158,424,779 (GRCm39) H655L probably benign Het
Astn1 A T 1: 158,424,781 (GRCm39) I656F probably benign Het
Bmpr1b T A 3: 141,586,224 (GRCm39) T13S probably benign Het
Camsap2 A G 1: 136,208,055 (GRCm39) F478L Het
Card10 G A 15: 78,671,631 (GRCm39) S611L probably benign Het
Cep68 T C 11: 20,190,007 (GRCm39) N335S probably benign Het
Chac1 T C 2: 119,181,986 (GRCm39) W35R probably damaging Het
Cntn6 T C 6: 104,809,498 (GRCm39) V511A probably benign Het
Cpne9 G T 6: 113,271,707 (GRCm39) G356W probably damaging Het
Dnah10 C A 5: 124,852,588 (GRCm39) T1939K possibly damaging Het
Dock10 T C 1: 80,573,438 (GRCm39) N239D probably benign Het
Dock5 T C 14: 68,062,123 (GRCm39) K415R possibly damaging Het
Dtd2 C A 12: 52,046,582 (GRCm39) D86Y probably damaging Het
Efcab9 A G 11: 32,473,608 (GRCm39) F127S probably damaging Het
Ermp1 T C 19: 29,606,189 (GRCm39) H375R probably benign Het
Frem2 A T 3: 53,560,622 (GRCm39) M1295K probably damaging Het
Gbp7 T G 3: 142,248,712 (GRCm39) I325R probably benign Het
Gpr179 T C 11: 97,227,677 (GRCm39) K1493E probably benign Het
Gucy2g T A 19: 55,226,214 (GRCm39) E234V probably null Het
Itpr1 T A 6: 108,470,718 (GRCm39) C2215* probably null Het
Ltn1 G A 16: 87,177,728 (GRCm39) R1634* probably null Het
Lynx1 A T 15: 74,623,258 (GRCm39) M58K possibly damaging Het
Macc1 T C 12: 119,410,684 (GRCm39) V484A probably benign Het
Map3k9 C T 12: 81,819,535 (GRCm39) V240M possibly damaging Het
Mc2r T C 18: 68,540,826 (GRCm39) M156V probably benign Het
Mchr1 G T 15: 81,121,417 (GRCm39) V56L probably benign Het
Mlxip C T 5: 123,533,173 (GRCm39) P61S probably benign Het
Mtarc1 A G 1: 184,539,383 (GRCm39) F96S probably benign Het
Muc4 A G 16: 32,575,542 (GRCm39) T1557A unknown Het
Myt1 T C 2: 181,467,731 (GRCm39) V1135A probably damaging Het
Ndufaf6 A T 4: 11,073,215 (GRCm39) S76T probably benign Het
Ntrk2 A G 13: 59,208,149 (GRCm39) Y665C probably damaging Het
Oaz3 T G 3: 94,340,901 (GRCm39) R215S unknown Het
Or10x1 T C 1: 174,196,656 (GRCm39) Y58H probably damaging Het
Or5m10b T C 2: 85,699,226 (GRCm39) C97R probably damaging Het
Or5m8 A T 2: 85,822,385 (GRCm39) N75Y probably damaging Het
Or5w1b C T 2: 87,475,534 (GRCm39) W311* probably null Het
Perm1 G T 4: 156,303,192 (GRCm39) V579L probably benign Het
Phyhipl A G 10: 70,404,788 (GRCm39) V140A probably benign Het
Pip5k1c T A 10: 81,144,842 (GRCm39) S228T probably damaging Het
Plekhn1 T G 4: 156,309,268 (GRCm39) T213P probably damaging Het
Pomt2 A T 12: 87,163,303 (GRCm39) probably null Het
Ptcd1 A G 5: 145,088,145 (GRCm39) V622A probably benign Het
Ptn T A 6: 36,718,284 (GRCm39) H127L probably benign Het
Ptprk A T 10: 28,462,015 (GRCm39) M1193L probably benign Het
Ptpru G A 4: 131,527,023 (GRCm39) P650S probably benign Het
Pum2 T A 12: 8,783,390 (GRCm39) L613Q probably damaging Het
Rapgef6 A G 11: 54,582,446 (GRCm39) T1458A probably damaging Het
Sap130 C T 18: 31,810,462 (GRCm39) A470V probably benign Het
Sertad2 C A 11: 20,598,116 (GRCm39) P104Q probably benign Het
Sfrp4 A T 13: 19,814,414 (GRCm39) M324L unknown Het
Sh3bp4 A G 1: 89,073,156 (GRCm39) N668S probably benign Het
Snx30 C A 4: 59,894,653 (GRCm39) D410E probably benign Het
Spata31 C A 13: 65,069,319 (GRCm39) S489* probably null Het
Taok3 T A 5: 117,366,050 (GRCm39) M367K probably benign Het
Tfap2a T C 13: 40,874,850 (GRCm39) N254D possibly damaging Het
Tgtp1 T G 11: 48,877,867 (GRCm39) L279F possibly damaging Het
Tmpo A G 10: 90,999,172 (GRCm39) F205S probably damaging Het
Tmprss5 A T 9: 49,023,517 (GRCm39) I218L probably benign Het
Tti2 A G 8: 31,641,224 (GRCm39) E116G probably benign Het
Vmn2r59 A T 7: 41,695,205 (GRCm39) N402K possibly 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
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
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'- AGAATGCACAGCTTAGTGTGCG -3'
(R):5'- ATGGCCTGTGTAAGCTCCTC -3'

Sequencing Primer
(F):5'- CAGCTTAGTGTGCGCTGCG -3'
(R):5'- TGTCCAGAGTACCTGAAC -3'
Posted On 2019-06-07