Incidental Mutation 'R0102:Mat1a'
ID 16397
Institutional Source Beutler Lab
Gene Symbol Mat1a
Ensembl Gene ENSMUSG00000037798
Gene Name methionine adenosyltransferase 1A
Synonyms SAMS, MAT, SAMS1, AdoMet, Ams, MATA1
MMRRC Submission 038388-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.111) question?
Stock # R0102 (G1)
Quality Score
Status Validated
Chromosome 14
Chromosomal Location 40826992-40846369 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 40842187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047286] [ENSMUST00000224514] [ENSMUST00000225720]
AlphaFold Q91X83
Predicted Effect probably benign
Transcript: ENSMUST00000047286
SMART Domains Protein: ENSMUSP00000044288
Gene: ENSMUSG00000037798

DomainStartEndE-ValueType
Pfam:S-AdoMet_synt_N 18 116 1.4e-44 PFAM
Pfam:S-AdoMet_synt_M 130 251 3.1e-46 PFAM
Pfam:S-AdoMet_synt_C 253 390 1.6e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224514
Predicted Effect probably benign
Transcript: ENSMUST00000225720
Coding Region Coverage
  • 1x: 88.8%
  • 3x: 85.2%
  • 10x: 73.9%
  • 20x: 53.9%
Validation Efficiency 97% (84/87)
MGI Phenotype FUNCTION: This gene encodes a member of the AdoMet synthase family. Methionine adenosyltransferase is a product of this gene (the alpha form) and the beta form and catalyzes the formation of S-adenosylmethionine from methionine and ATP.[provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene have significantly elevated levels of methionine in the circulation and develop liver steatosis with age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,773,874 (GRCm39) K1021R probably damaging Het
2610528J11Rik G A 4: 118,386,762 (GRCm39) V36M probably damaging Het
4930402F06Rik T A 2: 35,265,795 (GRCm39) R292* probably null Het
Abcb4 T C 5: 8,959,194 (GRCm39) F207S probably damaging Het
Adcy4 A C 14: 56,008,990 (GRCm39) N812K probably benign Het
Afap1l2 G T 19: 56,916,872 (GRCm39) probably benign Het
Arfgef2 A T 2: 166,687,385 (GRCm39) H203L probably benign Het
Avl9 G T 6: 56,713,468 (GRCm39) R242L probably benign Het
Bod1l G A 5: 41,974,612 (GRCm39) P2234L probably benign Het
Cfi A C 3: 129,642,416 (GRCm39) H90P probably damaging Het
Cyp2d10 C T 15: 82,288,794 (GRCm39) M229I probably benign Het
Dnah5 A G 15: 28,245,897 (GRCm39) probably benign Het
Dnttip2 G T 3: 122,069,452 (GRCm39) M222I probably benign Het
Dync1li2 A T 8: 105,154,757 (GRCm39) Y284N probably benign Het
Ebf1 T C 11: 44,882,282 (GRCm39) Y413H probably benign Het
Exog A G 9: 119,281,319 (GRCm39) T186A possibly damaging Het
Fam171a2 T C 11: 102,334,939 (GRCm39) N66S possibly damaging Het
Gprc5a A T 6: 135,056,033 (GRCm39) N160I probably damaging Het
Haus3 A G 5: 34,323,258 (GRCm39) probably null Het
Klhl20 A T 1: 160,918,015 (GRCm39) C90* probably null Het
Krt84 T A 15: 101,437,138 (GRCm39) I342L probably damaging Het
Lifr G A 15: 7,208,373 (GRCm39) D584N probably damaging Het
Lmbrd2 G A 15: 9,184,039 (GRCm39) R551K probably damaging Het
Lrtm1 T A 14: 28,744,184 (GRCm39) probably benign Het
Mest A G 6: 30,746,269 (GRCm39) I279V probably damaging Het
Mroh5 A T 15: 73,691,199 (GRCm39) D155E probably benign Het
Naa25 A G 5: 121,573,632 (GRCm39) D787G possibly damaging Het
Naaladl1 C T 19: 6,162,534 (GRCm39) P465S probably damaging Het
Necab3 G A 2: 154,387,232 (GRCm39) R302C probably damaging Het
Nsg1 A T 5: 38,316,254 (GRCm39) D32E probably damaging Het
Ntrk2 T C 13: 58,956,607 (GRCm39) V22A probably benign Het
Nuggc A G 14: 65,851,000 (GRCm39) D290G probably null Het
Nup205 A T 6: 35,202,715 (GRCm39) probably benign Het
Or2t35 C T 14: 14,407,876 (GRCm38) S218F probably damaging Het
Or4f57 G C 2: 111,790,942 (GRCm39) Q159E probably damaging Het
Pde4b T A 4: 102,447,375 (GRCm39) S9T probably benign Het
Phip A T 9: 82,787,845 (GRCm39) probably null Het
Pitpnm3 C T 11: 71,947,072 (GRCm39) V776M probably damaging Het
Pon2 A G 6: 5,289,091 (GRCm39) probably benign Het
Ppp1r12b T A 1: 134,763,637 (GRCm39) probably null Het
Ppp1r15b A G 1: 133,060,908 (GRCm39) N475S probably damaging Het
Prorp A G 12: 55,429,082 (GRCm39) D535G probably benign Het
Prrt3 A T 6: 113,474,790 (GRCm39) L144H probably damaging Het
Psmb7 A G 2: 38,533,377 (GRCm39) V50A possibly damaging Het
Sacs T A 14: 61,442,017 (GRCm39) S1354R probably damaging Het
Sdcbp2 A G 2: 151,425,884 (GRCm39) T29A probably benign Het
Shbg T A 11: 69,508,415 (GRCm39) probably benign Het
Shcbp1 A G 8: 4,794,452 (GRCm39) I447T probably damaging Het
Spata31h1 T A 10: 82,119,390 (GRCm39) K4540M probably damaging Het
Spata31h2 T A 5: 23,542,489 (GRCm39) noncoding transcript Het
Thbd A T 2: 148,248,903 (GRCm39) C322S probably damaging Het
Tnfrsf21 C T 17: 43,349,104 (GRCm39) H239Y probably benign Het
Trappc12 A T 12: 28,796,751 (GRCm39) F260L probably damaging Het
Trgv4 T G 13: 19,369,370 (GRCm39) F38C possibly damaging Het
Trim10 C A 17: 37,181,074 (GRCm39) H102N probably damaging Het
Ube2u A G 4: 100,407,122 (GRCm39) T215A possibly damaging Het
Vcan T G 13: 89,851,787 (GRCm39) T1058P probably benign Het
Vwa3b A C 1: 37,174,595 (GRCm39) E670A probably damaging Het
Other mutations in Mat1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00477:Mat1a APN 14 40,827,651 (GRCm39) splice site probably benign
IGL01506:Mat1a APN 14 40,831,395 (GRCm39) missense probably damaging 1.00
IGL01616:Mat1a APN 14 40,831,436 (GRCm39) missense probably damaging 1.00
IGL01701:Mat1a APN 14 40,836,772 (GRCm39) missense probably benign
IGL01921:Mat1a APN 14 40,836,292 (GRCm39) splice site probably benign
IGL02681:Mat1a APN 14 40,844,453 (GRCm39) splice site probably benign
IGL03294:Mat1a APN 14 40,827,561 (GRCm39) missense probably benign 0.21
ANU74:Mat1a UTSW 14 40,833,099 (GRCm39) missense probably benign 0.12
R1445:Mat1a UTSW 14 40,843,797 (GRCm39) missense probably damaging 1.00
R1917:Mat1a UTSW 14 40,843,394 (GRCm39) missense probably damaging 1.00
R1968:Mat1a UTSW 14 40,832,991 (GRCm39) missense probably damaging 1.00
R2518:Mat1a UTSW 14 40,844,469 (GRCm39) missense probably benign 0.00
R3692:Mat1a UTSW 14 40,843,338 (GRCm39) missense probably damaging 0.99
R6546:Mat1a UTSW 14 40,843,379 (GRCm39) missense probably damaging 1.00
R6601:Mat1a UTSW 14 40,827,561 (GRCm39) missense probably benign 0.21
R7459:Mat1a UTSW 14 40,842,141 (GRCm39) missense probably benign 0.11
R7657:Mat1a UTSW 14 40,844,476 (GRCm39) nonsense probably null
R8497:Mat1a UTSW 14 40,843,851 (GRCm39) missense probably damaging 1.00
R8865:Mat1a UTSW 14 40,843,788 (GRCm39) missense probably damaging 1.00
R9240:Mat1a UTSW 14 40,827,573 (GRCm39) missense probably benign
R9451:Mat1a UTSW 14 40,836,803 (GRCm39) missense probably damaging 0.98
Z1176:Mat1a UTSW 14 40,827,467 (GRCm39) start gained probably benign
Posted On 2013-01-20