Incidental Mutation 'IGL01921:Mat1a'
ID180118
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mat1a
Ensembl Gene ENSMUSG00000037798
Gene Namemethionine adenosyltransferase I, alpha
SynonymsAms, SAMS, MAT, SAMS1, MATA1, AdoMet
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.102) question?
Stock #IGL01921
Quality Score
Status
Chromosome14
Chromosomal Location41105035-41124412 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 41114335 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047286] [ENSMUST00000224514] [ENSMUST00000225720]
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
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 T C 13: 59,512,483 T310A possibly damaging Het
Ccdc102a T C 8: 94,913,391 T92A probably damaging Het
Cd163l1 G T 7: 140,228,719 E848* probably null Het
Ciao1 C T 2: 127,242,835 V328I probably benign Het
Col12a1 T A 9: 79,650,017 Q1943L possibly damaging Het
Diaph1 T C 18: 37,856,208 D898G possibly damaging Het
Dio3 A T 12: 110,279,355 T42S possibly damaging Het
Dnah8 T A 17: 30,736,141 I2048N probably benign Het
Egr2 T A 10: 67,540,378 probably null Het
Epc2 T A 2: 49,532,197 Y368N probably damaging Het
Furin A G 7: 80,395,954 probably benign Het
Gga1 T C 15: 78,893,795 M620T possibly damaging Het
Gm21976 T A 13: 98,305,321 Y45* probably null Het
Gm5346 C A 8: 43,625,511 V559L probably damaging Het
Gpn1 T C 5: 31,499,268 V105A probably damaging Het
Hoxb8 A T 11: 96,284,355 N206I probably damaging Het
Kif15 T A 9: 122,979,504 L67Q probably damaging Het
Krt40 T A 11: 99,543,163 probably benign Het
Mkrn1 T C 6: 39,405,913 D99G possibly damaging Het
Plxnb2 T C 15: 89,164,271 Y645C possibly damaging Het
Ppp1r13b A G 12: 111,833,237 V702A probably benign Het
Ppp4r4 G T 12: 103,576,310 M1I probably null Het
Prss21 T A 17: 23,872,440 M217K possibly damaging Het
R3hcc1l A G 19: 42,563,781 S406G possibly damaging Het
Rfesd T C 13: 76,008,266 E7G probably benign Het
Ripk4 T C 16: 97,743,365 E694G possibly damaging Het
Rlf T C 4: 121,146,746 D1679G probably damaging Het
Ryr2 C T 13: 11,554,550 C4956Y possibly damaging Het
Uri1 T A 7: 37,981,647 K111* probably null Het
Usf1 A G 1: 171,416,856 E108G possibly damaging Het
Vmn1r71 C A 7: 10,748,272 R163L probably benign Het
Vmn2r86 T C 10: 130,455,741 T52A probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Washc5 A T 15: 59,342,109 probably null Het
Zfp583 T C 7: 6,325,570 T7A possibly damaging Het
Zim1 T G 7: 6,682,185 probably benign Het
Other mutations in Mat1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00477:Mat1a APN 14 41105694 splice site probably benign
IGL01506:Mat1a APN 14 41109438 missense probably damaging 1.00
IGL01616:Mat1a APN 14 41109479 missense probably damaging 1.00
IGL01701:Mat1a APN 14 41114815 missense probably benign
IGL02681:Mat1a APN 14 41122496 splice site probably benign
IGL03294:Mat1a APN 14 41105604 missense probably benign 0.21
ANU74:Mat1a UTSW 14 41111142 missense probably benign 0.12
R0102:Mat1a UTSW 14 41120230 splice site probably benign
R1445:Mat1a UTSW 14 41121840 missense probably damaging 1.00
R1917:Mat1a UTSW 14 41121437 missense probably damaging 1.00
R1968:Mat1a UTSW 14 41111034 missense probably damaging 1.00
R2518:Mat1a UTSW 14 41122512 missense probably benign 0.00
R3692:Mat1a UTSW 14 41121381 missense probably damaging 0.99
R6546:Mat1a UTSW 14 41121422 missense probably damaging 1.00
R6601:Mat1a UTSW 14 41105604 missense probably benign 0.21
R7459:Mat1a UTSW 14 41120184 missense probably benign 0.11
R7657:Mat1a UTSW 14 41122519 nonsense probably null
Z1176:Mat1a UTSW 14 41105510 start gained probably benign
Posted On2014-05-07