Incidental Mutation 'IGL01616:Mat1a'
ID92397
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: 0.126) question?
Stock #IGL01616
Quality Score
Status
Chromosome14
Chromosomal Location41105035-41124412 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 41109479 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 55 (V55M)
Ref Sequence ENSEMBL: ENSMUSP00000153488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047286] [ENSMUST00000224514] [ENSMUST00000225720]
Predicted Effect probably damaging
Transcript: ENSMUST00000047286
AA Change: V55M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000044288
Gene: ENSMUSG00000037798
AA Change: V55M

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 damaging
Transcript: ENSMUST00000224514
AA Change: V55M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000225720
AA Change: V55M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts5 T A 16: 85,887,814 probably null Het
Afg3l1 T A 8: 123,502,007 W771R probably damaging Het
Braf A G 6: 39,651,652 S348P probably damaging Het
Cd200 T C 16: 45,397,056 T112A possibly damaging Het
Cep350 T C 1: 155,953,247 I304V probably benign Het
Fry A G 5: 150,399,599 T1072A probably damaging Het
Fry A T 5: 150,438,811 probably null Het
Fuk G T 8: 110,890,476 H388N possibly damaging Het
Gcdh C T 8: 84,893,659 G8D probably damaging Het
Ivns1abp C A 1: 151,361,543 T486K possibly damaging Het
Olfr656 T C 7: 104,617,721 F22S probably damaging Het
Pcnx3 C T 19: 5,667,259 probably benign Het
Psrc1 C A 3: 108,386,692 S275Y possibly damaging Het
Ptpn21 A G 12: 98,680,013 L1062P probably damaging Het
Slc22a13b-ps A C 9: 119,220,928 probably benign Het
Slc35b1 T A 11: 95,389,084 M178K probably benign Het
Slc6a11 A T 6: 114,134,868 Q132L possibly damaging Het
Slc9a8 C T 2: 167,424,166 T21I possibly damaging Het
Tox T C 4: 6,688,430 T526A probably damaging Het
Ubr3 C T 2: 70,020,484 P1749S probably benign Het
Wdfy3 C A 5: 101,913,260 A1363S probably damaging Het
Zdhhc23 T A 16: 43,973,480 H277L probably damaging 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
IGL01701:Mat1a APN 14 41114815 missense probably benign
IGL01921:Mat1a APN 14 41114335 splice site 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
R8497:Mat1a UTSW 14 41121894 missense probably damaging 1.00
Z1176:Mat1a UTSW 14 41105510 start gained probably benign
Posted On2013-12-09