Incidental Mutation 'IGL00422:Mat2b'
ID4618
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mat2b
Ensembl Gene ENSMUSG00000042032
Gene Namemethionine adenosyltransferase II, beta
Synonyms2410018D16Rik, 1110064C04Rik, MATIIbeta
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.391) question?
Stock #IGL00422
Quality Score
Status
Chromosome11
Chromosomal Location40679314-40695203 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 40687738 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Cysteine at position 41 (G41C)
Ref Sequence ENSEMBL: ENSMUSP00000123878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040167] [ENSMUST00000101347] [ENSMUST00000141830]
Predicted Effect probably damaging
Transcript: ENSMUST00000040167
AA Change: G41C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048222
Gene: ENSMUSG00000042032
AA Change: G41C

DomainStartEndE-ValueType
Pfam:RmlD_sub_bind 29 324 9.1e-90 PFAM
Pfam:Epimerase 31 244 5.7e-25 PFAM
Pfam:GDP_Man_Dehyd 32 317 2.3e-11 PFAM
Pfam:Polysacc_synt_2 59 209 3.4e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000101347
AA Change: G30C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098901
Gene: ENSMUSG00000042032
AA Change: G30C

DomainStartEndE-ValueType
low complexity region 1 12 N/A INTRINSIC
Pfam:RmlD_sub_bind 18 313 4.6e-86 PFAM
Pfam:NAD_binding_10 20 226 8.7e-12 PFAM
Pfam:Epimerase 20 236 1.1e-26 PFAM
Pfam:Polysacc_synt_2 49 222 4.1e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000109307
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135617
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137797
Predicted Effect probably damaging
Transcript: ENSMUST00000141830
AA Change: G41C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123878
Gene: ENSMUSG00000042032
AA Change: G41C

DomainStartEndE-ValueType
Pfam:RmlD_sub_bind 29 91 4e-9 PFAM
Pfam:Epimerase 31 96 4.6e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156867
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the methionine adenosyltransferase (MAT) family. MAT catalyzes the biosynthesis of S-adenosylmethionine from methionine and ATP. This protein is the regulatory beta subunit of MAT. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 C T 19: 57,068,186 A359T probably damaging Het
Ajuba A T 14: 54,571,769 Y400* probably null Het
Cckar T A 5: 53,699,829 D342V possibly damaging Het
Cdc123 A G 2: 5,798,449 V253A probably benign Het
Cep162 T C 9: 87,227,167 D461G probably benign Het
Chd7 G A 4: 8,859,106 E2399K probably damaging Het
Cln8 G A 8: 14,896,637 C217Y probably benign Het
Dchs1 A G 7: 105,758,029 V2119A possibly damaging Het
Dhx33 T C 11: 71,001,620 S108G probably benign Het
Dip2a T A 10: 76,313,236 M194L probably benign Het
Dnah11 T C 12: 118,068,096 K1779R probably damaging Het
Fads3 T G 19: 10,055,681 F328V possibly damaging Het
Flad1 A G 3: 89,405,853 probably null Het
Gm5346 A G 8: 43,626,351 F279L probably damaging Het
Gm7535 G T 17: 17,911,888 probably benign Het
Gnpat A G 8: 124,885,013 E513G probably damaging Het
H2-M5 A G 17: 36,987,840 I238T probably damaging Het
Hoxd12 G A 2: 74,675,427 R114Q probably damaging Het
Ide T C 19: 37,276,532 I903V unknown Het
Ifi209 T G 1: 173,638,963 D120E possibly damaging Het
Map3k10 T C 7: 27,668,469 D248G probably damaging Het
Mfsd4a T C 1: 132,040,594 I369V probably benign Het
Myom1 T A 17: 71,126,098 V1480E probably damaging Het
Myom2 A T 8: 15,069,490 D127V probably damaging Het
Olfml2b T A 1: 170,669,066 V422E probably damaging Het
Pkn3 G A 2: 30,081,104 A228T probably damaging Het
Rad17 A T 13: 100,629,525 I365K probably benign Het
Rad17 A T 13: 100,629,523 S366T probably damaging Het
Rpp14 G A 14: 8,083,934 G30E possibly damaging Het
Slco1a6 A C 6: 142,161,017 C15G probably benign Het
Spag9 T A 11: 94,097,866 F571I probably benign Het
Ttc27 T A 17: 74,780,816 C459S probably damaging Het
Washc2 A G 6: 116,256,676 T888A probably benign Het
Zcchc7 A T 4: 44,931,318 H490L possibly damaging Het
Other mutations in Mat2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Mat2b APN 11 40684727 missense possibly damaging 0.61
IGL02929:Mat2b APN 11 40684713 missense probably benign
R0525:Mat2b UTSW 11 40682669 splice site probably benign
R1733:Mat2b UTSW 11 40680077 missense probably benign 0.02
R5054:Mat2b UTSW 11 40680042 missense probably damaging 1.00
R5729:Mat2b UTSW 11 40682546 missense probably damaging 0.99
R6748:Mat2b UTSW 11 40680194 missense probably benign 0.24
T0975:Mat2b UTSW 11 40680091 missense probably benign 0.03
Posted On2012-04-20