Incidental Mutation 'R4809:Mars'
ID 370919
Institutional Source Beutler Lab
Gene Symbol Mars
Ensembl Gene ENSMUSG00000040354
Gene Name methionine-tRNA synthetase
Synonyms methionine tRNA ligase, MetRS, methionyl-tRNA synthetase
MMRRC Submission 042428-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # R4809 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 127296221-127311786 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 127300215 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 535 (T535K)
Ref Sequence ENSEMBL: ENSMUSP00000130666 (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 probably damaging
Transcript: ENSMUST00000037290
AA Change: T535K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000037446
Gene: ENSMUSG00000040354
AA Change: T535K

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 noncoding transcript
Transcript: ENSMUST00000139683
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145275
Predicted Effect probably damaging
Transcript: ENSMUST00000171564
AA Change: T535K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000130666
Gene: ENSMUSG00000040354
AA Change: T535K

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
Meta Mutation Damage Score 0.8649 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 96% (96/100)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik A G 14: 32,662,631 (GRCm38) V459A probably benign Het
Abca12 C T 1: 71,278,856 (GRCm38) A1840T probably benign Het
Abhd6 T G 14: 8,039,771 (GRCm38) M1R probably null Het
Abl1 T C 2: 31,800,242 (GRCm38) L572P probably damaging Het
Adamts2 C A 11: 50,803,690 (GRCm38) S1101R probably benign Het
Adgra2 G A 8: 27,110,479 (GRCm38) W200* probably null Het
AI661453 C A 17: 47,467,187 (GRCm38) probably benign Het
Aldh1l2 A G 10: 83,506,632 (GRCm38) F438S probably damaging Het
Ankrd49 G A 9: 14,781,214 (GRCm38) T218I possibly damaging Het
Ano7 T C 1: 93,394,566 (GRCm38) F410L probably benign Het
Aox4 T A 1: 58,266,649 (GRCm38) F1271I probably damaging Het
Aqr T C 2: 114,175,214 (GRCm38) probably benign Het
Arhgap42 A G 9: 9,180,117 (GRCm38) S54P probably damaging Het
Aunip C A 4: 134,511,139 (GRCm38) D16E possibly damaging Het
Btbd7 A G 12: 102,793,744 (GRCm38) probably null Het
Cabp4 T C 19: 4,139,291 (GRCm38) H89R probably benign Het
Ccni AAA AAACTAA 5: 93,187,570 (GRCm38) probably benign Het
Chfr C T 5: 110,158,834 (GRCm38) H410Y probably damaging Het
Churc1 C A 12: 76,782,897 (GRCm38) L111M probably damaging Het
Clasp1 C T 1: 118,461,250 (GRCm38) T113I probably benign Het
Col12a1 T A 9: 79,693,567 (GRCm38) Q745L probably benign Het
Col20a1 T C 2: 180,998,661 (GRCm38) L537P probably damaging Het
Creb5 A T 6: 53,610,426 (GRCm38) E47V probably null Het
Csnk1d A T 11: 120,963,842 (GRCm38) probably benign Het
Cts6 A T 13: 61,202,181 (GRCm38) W29R probably damaging Het
Dbt T A 3: 116,546,343 (GRCm38) I420N probably damaging Het
Det1 C A 7: 78,843,807 (GRCm38) D150Y probably damaging Het
Dlk2 A G 17: 46,299,014 (GRCm38) probably null Het
Dnmt3a A T 12: 3,900,352 (GRCm38) I639F probably damaging Het
Dock9 A T 14: 121,546,596 (GRCm38) Y1989N probably benign Het
Dsg4 A T 18: 20,466,621 (GRCm38) T765S possibly damaging Het
Epha5 C T 5: 84,105,891 (GRCm38) D548N possibly damaging Het
Fam189a1 G A 7: 64,776,740 (GRCm38) T159I probably damaging Het
Fam227b T A 2: 126,116,125 (GRCm38) Y240F possibly damaging Het
Fbxw21 C T 9: 109,143,390 (GRCm38) V395I probably damaging Het
Fn1 C A 1: 71,652,800 (GRCm38) probably benign Het
Fpr-rs3 A T 17: 20,624,421 (GRCm38) S153T probably benign Het
Frem2 A G 3: 53,653,895 (GRCm38) F1064L probably benign Het
Gas2l3 CACTCGTCATACT CACT 10: 89,430,958 (GRCm38) probably benign Het
Gjd2 C T 2: 114,011,541 (GRCm38) G152R probably damaging Het
Gpr75 T C 11: 30,892,154 (GRCm38) I353T possibly damaging Het
Grb7 T C 11: 98,451,436 (GRCm38) V145A possibly damaging Het
Igkv4-73 G A 6: 69,197,823 (GRCm38) R40W unknown Het
Kif1c C T 11: 70,726,357 (GRCm38) A839V probably benign Het
Krt31 G A 11: 100,049,922 (GRCm38) A125V possibly damaging Het
Lamb1 A G 12: 31,278,526 (GRCm38) Y163C probably damaging Het
Mdc1 T C 17: 35,849,101 (GRCm38) probably null Het
Micu1 C T 10: 59,740,822 (GRCm38) H167Y probably benign Het
Minos1 C G 4: 139,130,957 (GRCm38) W10S probably damaging Het
Mrgprb1 C T 7: 48,447,991 (GRCm38) V58I possibly damaging Het
Ncoa7 T A 10: 30,771,762 (GRCm38) E6V possibly damaging Het
Nectin3 A C 16: 46,448,160 (GRCm38) probably benign Het
Olfr1085 T A 2: 86,657,685 (GRCm38) M258L possibly damaging Het
Olfr1294 C T 2: 111,537,611 (GRCm38) C226Y probably benign Het
Olfr46 A G 7: 140,611,074 (GRCm38) K295E probably damaging Het
Olfr598 T A 7: 103,328,523 (GRCm38) Y12* probably null Het
Pex16 T C 2: 92,376,638 (GRCm38) S54P probably damaging Het
Pik3cg A T 12: 32,204,081 (GRCm38) S636T possibly damaging Het
Plin5 A G 17: 56,116,855 (GRCm38) S27P probably benign Het
Ptch1 A T 13: 63,513,708 (GRCm38) D1068E probably damaging Het
Ptprq T C 10: 107,563,175 (GRCm38) T1960A probably damaging Het
Rap1gap2 T C 11: 74,407,974 (GRCm38) probably benign Het
Rcc2 G A 4: 140,717,042 (GRCm38) R348Q probably damaging Het
Rhbdd3 C A 11: 5,105,949 (GRCm38) A377D probably damaging Het
Rpl7 T G 1: 16,101,965 (GRCm38) probably benign Het
Scn11a G T 9: 119,819,870 (GRCm38) D42E probably benign Het
Scube3 C T 17: 28,165,173 (GRCm38) R549W probably damaging Het
Sil1 A T 18: 35,325,375 (GRCm38) M189K probably damaging Het
Slc39a6 G A 18: 24,585,474 (GRCm38) Q225* probably null Het
Slc7a15 A T 12: 8,539,002 (GRCm38) C182S probably benign Het
Spata21 G A 4: 141,097,120 (GRCm38) probably null Het
Stim2 T C 5: 54,110,613 (GRCm38) V417A probably damaging Het
Szt2 T C 4: 118,388,985 (GRCm38) D993G probably damaging Het
Tet3 A G 6: 83,402,946 (GRCm38) S747P probably benign Het
Tmem86a C G 7: 47,052,930 (GRCm38) S34R possibly damaging Het
Top2b T A 14: 16,383,125 (GRCm38) S38T probably benign Het
Trim33 A T 3: 103,329,256 (GRCm38) T561S possibly damaging Het
Ttc39a C T 4: 109,416,021 (GRCm38) Q25* probably null Het
Urb1 A G 16: 90,759,842 (GRCm38) I1816T possibly damaging Het
Usp24 T C 4: 106,413,676 (GRCm38) probably null Het
Usp36 A C 11: 118,263,070 (GRCm38) L840R probably damaging Het
Usp50 C A 2: 126,777,853 (GRCm38) probably benign Het
Vangl2 A G 1: 172,009,663 (GRCm38) V193A possibly damaging Het
Vmn1r62 T A 7: 5,675,867 (GRCm38) H182Q probably benign Het
Vmn2r124 A T 17: 18,073,745 (GRCm38) Y698F probably benign Het
Wls C T 3: 159,897,445 (GRCm38) T165I probably benign Het
Zfp808 G T 13: 62,171,292 (GRCm38) E112* probably null Het
Other mutations in Mars
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00230:Mars APN 10 127,298,006 (GRCm38) missense probably benign 0.31
IGL00813:Mars APN 10 127,300,047 (GRCm38) missense probably damaging 1.00
IGL01292:Mars APN 10 127,305,518 (GRCm38) missense probably damaging 1.00
IGL01718:Mars APN 10 127,305,838 (GRCm38) missense possibly damaging 0.95
IGL02505:Mars APN 10 127,304,244 (GRCm38) nonsense probably null
IGL02986:Mars APN 10 127,297,569 (GRCm38) missense probably benign 0.09
menschen UTSW 10 127,296,680 (GRCm38) unclassified probably benign
PIT4366001:Mars UTSW 10 127,299,398 (GRCm38) missense possibly damaging 0.72
R0149:Mars UTSW 10 127,300,034 (GRCm38) missense probably damaging 1.00
R1445:Mars UTSW 10 127,297,988 (GRCm38) missense possibly damaging 0.75
R1702:Mars UTSW 10 127,310,079 (GRCm38) missense possibly damaging 0.52
R1998:Mars UTSW 10 127,302,871 (GRCm38) missense probably benign
R1998:Mars UTSW 10 127,300,478 (GRCm38) nonsense probably null
R2089:Mars UTSW 10 127,299,285 (GRCm38) missense probably damaging 1.00
R2091:Mars UTSW 10 127,299,285 (GRCm38) missense probably damaging 1.00
R2091:Mars UTSW 10 127,299,285 (GRCm38) missense probably damaging 1.00
R4597:Mars UTSW 10 127,300,453 (GRCm38) missense probably damaging 1.00
R4923:Mars UTSW 10 127,296,680 (GRCm38) unclassified probably benign
R5563:Mars UTSW 10 127,308,661 (GRCm38) missense probably benign
R5890:Mars UTSW 10 127,298,045 (GRCm38) missense probably benign 0.04
R5895:Mars UTSW 10 127,296,549 (GRCm38) missense probably benign 0.01
R5986:Mars UTSW 10 127,304,302 (GRCm38) nonsense probably null
R6300:Mars UTSW 10 127,296,560 (GRCm38) missense probably benign 0.00
R7267:Mars UTSW 10 127,308,586 (GRCm38) missense probably benign
R7544:Mars UTSW 10 127,311,610 (GRCm38) missense probably benign 0.24
R7573:Mars UTSW 10 127,302,810 (GRCm38) critical splice donor site probably null
R7740:Mars UTSW 10 127,300,575 (GRCm38) missense probably benign 0.16
R7884:Mars UTSW 10 127,300,245 (GRCm38) missense probably damaging 0.99
R8286:Mars UTSW 10 127,305,479 (GRCm38) missense probably benign 0.35
R8397:Mars UTSW 10 127,300,499 (GRCm38) missense possibly damaging 0.48
R9174:Mars UTSW 10 127,299,368 (GRCm38) missense probably damaging 1.00
R9607:Mars UTSW 10 127,308,624 (GRCm38) nonsense probably null
R9662:Mars UTSW 10 127,300,480 (GRCm38) missense probably damaging 1.00
X0027:Mars UTSW 10 127,308,349 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGAACTGGTAAAGGTCCACC -3'
(R):5'- TCAAATGGGGAACGCCTGTG -3'

Sequencing Primer
(F):5'- TCCACCTAGGAGAAGATATTGGG -3'
(R):5'- CCCTTGGAAGGTTTTGAGGACAAG -3'
Posted On 2016-02-04