Incidental Mutation 'IGL02929:Mat2b'
ID 364025
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mat2b
Ensembl Gene ENSMUSG00000042032
Gene Name methionine adenosyltransferase 2 non-catalytic beta subunit methionine
Synonyms 2410018D16Rik, 1110064C04Rik, MATIIbeta
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.283) question?
Stock # IGL02929
Quality Score
Status
Chromosome 11
Chromosomal Location 40570141-40586030 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 40575540 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 154 (D154E)
Ref Sequence ENSEMBL: ENSMUSP00000098901 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040167] [ENSMUST00000101347] [ENSMUST00000141830]
AlphaFold Q99LB6
Predicted Effect probably benign
Transcript: ENSMUST00000040167
AA Change: D165E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000048222
Gene: ENSMUSG00000042032
AA Change: D165E

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 benign
Transcript: ENSMUST00000101347
AA Change: D154E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000098901
Gene: ENSMUSG00000042032
AA Change: D154E

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 benign
Transcript: ENSMUST00000141830
SMART Domains Protein: ENSMUSP00000123878
Gene: ENSMUSG00000042032

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330070K13Rik A G 5: 130,413,252 (GRCm39) probably null Het
Abcb5 T C 12: 118,908,674 (GRCm39) Y90C probably damaging Het
Accs T C 2: 93,674,566 (GRCm39) D112G probably damaging Het
Adam32 C A 8: 25,362,659 (GRCm39) V13L possibly damaging Het
Adgrb3 A G 1: 25,592,905 (GRCm39) V294A probably benign Het
Agt G T 8: 125,283,829 (GRCm39) A430E probably benign Het
Agxt2 T C 15: 10,388,379 (GRCm39) probably benign Het
Atp2a1 A T 7: 126,056,116 (GRCm39) I235N probably damaging Het
Atp8b1 T C 18: 64,694,733 (GRCm39) I516M possibly damaging Het
Atrx T C X: 104,923,512 (GRCm39) probably null Het
Brcc3 T C X: 74,479,105 (GRCm39) V117A possibly damaging Het
Casp8ap2 T C 4: 32,624,105 (GRCm39) probably benign Het
Ceacam3 T A 7: 16,892,115 (GRCm39) V286D probably damaging Het
Cpb1 T C 3: 20,329,630 (GRCm39) D32G probably benign Het
Cpsf1 C A 15: 76,486,327 (GRCm39) probably null Het
Dnai4 C T 4: 102,917,188 (GRCm39) W552* probably null Het
Dock2 A T 11: 34,218,048 (GRCm39) V1174E probably damaging Het
Dqx1 A G 6: 83,037,465 (GRCm39) probably benign Het
Ercc1 T C 7: 19,089,288 (GRCm39) probably null Het
Fn1 A G 1: 71,634,821 (GRCm39) probably null Het
Garre1 A T 7: 33,944,507 (GRCm39) M75K possibly damaging Het
Ice1 A G 13: 70,744,322 (GRCm39) L2087P probably damaging Het
Ift122 A G 6: 115,879,838 (GRCm39) D612G probably damaging Het
Igkv6-25 A G 6: 70,192,929 (GRCm39) Y112C probably damaging Het
Kit C A 5: 75,801,429 (GRCm39) P572Q probably damaging Het
Kras A G 6: 145,177,815 (GRCm39) probably benign Het
Ltv1 T C 10: 13,067,970 (GRCm39) K6R possibly damaging Het
Man1a C T 10: 53,801,531 (GRCm39) V443I probably benign Het
Mtrf1 A G 14: 79,640,273 (GRCm39) K143E probably benign Het
Myh13 A C 11: 67,257,991 (GRCm39) I95L probably damaging Het
Myo7b A T 18: 32,127,978 (GRCm39) D571E probably benign Het
Nek10 T A 14: 14,821,119 (GRCm38) D28E possibly damaging Het
Npm2 T A 14: 70,889,678 (GRCm39) probably null Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Plcb2 G A 2: 118,543,715 (GRCm39) probably benign Het
Ppp1r3a A G 6: 14,719,810 (GRCm39) M368T probably benign Het
Rnf123 G T 9: 107,946,275 (GRCm39) T300K probably benign Het
Sbspon A G 1: 15,954,069 (GRCm39) probably benign Het
Slc52a2 G A 15: 76,424,776 (GRCm39) C338Y probably benign Het
Tdrd6 T A 17: 43,940,604 (GRCm39) Q148L possibly damaging Het
Tle5 T A 10: 81,400,672 (GRCm39) probably null Het
Trpc3 T A 3: 36,692,623 (GRCm39) K790* probably null Het
Ushbp1 C T 8: 71,847,120 (GRCm39) A171T probably damaging Het
Usp32 T C 11: 84,879,198 (GRCm39) T1504A probably benign Het
Other mutations in Mat2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Mat2b APN 11 40,578,565 (GRCm39) missense probably damaging 1.00
IGL00509:Mat2b APN 11 40,575,554 (GRCm39) missense possibly damaging 0.61
R0525:Mat2b UTSW 11 40,573,496 (GRCm39) splice site probably benign
R1733:Mat2b UTSW 11 40,570,904 (GRCm39) missense probably benign 0.02
R5054:Mat2b UTSW 11 40,570,869 (GRCm39) missense probably damaging 1.00
R5729:Mat2b UTSW 11 40,573,373 (GRCm39) missense probably damaging 0.99
R6748:Mat2b UTSW 11 40,571,021 (GRCm39) missense probably benign 0.24
R8076:Mat2b UTSW 11 40,576,092 (GRCm39) missense probably damaging 1.00
T0975:Mat2b UTSW 11 40,570,918 (GRCm39) missense probably benign 0.03
Z1176:Mat2b UTSW 11 40,578,604 (GRCm39) missense probably benign
Z1176:Mat2b UTSW 11 40,573,312 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18