Incidental Mutation 'T0975:Mat2b'
ID 262190
Institutional Source Beutler Lab
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: 0.405) question?
Stock # T0975 (G3) of strain 714
Quality Score 190
Status Not validated
Chromosome 11
Chromosomal Location 40570141-40586030 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 40570918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 302 (T302I)
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: T313I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000048222
Gene: ENSMUSG00000042032
AA Change: T313I

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: T302I

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000098901
Gene: ENSMUSG00000042032
AA Change: T302I

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: 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
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.0%
  • 20x: 93.3%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik TAA TAAA 11: 3,887,945 (GRCm39) probably null Het
4930556J24Rik C T 11: 3,926,324 (GRCm39) A27T unknown Het
Ago3 C T 4: 126,298,056 (GRCm39) V155I probably benign Het
Ago3 G A 4: 126,298,103 (GRCm39) A139V probably benign Het
Ago3 C T 4: 126,298,098 (GRCm39) A141T probably benign Het
Ahdc1 ACCTCCT ACCTCCTCCT 4: 132,790,065 (GRCm39) probably benign Het
Azin2 A G 4: 128,839,927 (GRCm39) Y222H probably benign Het
Bpifb5 C A 2: 154,071,384 (GRCm39) probably null Het
Castor1 G C 11: 4,170,445 (GRCm39) G147A probably benign Het
Ccdc157 C T 11: 4,096,246 (GRCm39) A455T probably damaging Het
Ccng1 A C 11: 40,644,871 (GRCm39) S9A probably benign Het
Cfh T C 1: 140,082,336 (GRCm39) T164A probably benign Het
Cherp TTGGACCTGGACCTGGACCTGGACCTGGA TTGGACCTGGACCTGGACCTGGA 8: 73,215,878 (GRCm39) probably benign Het
Chrng T C 1: 87,138,348 (GRCm39) S380P probably benign Het
Clspn ACGGCGGCGGCGGCG ACGGCGGCGGCGGCGGCGGCG 4: 126,460,230 (GRCm39) probably benign Het
Ctrc T TA 4: 141,572,507 (GRCm39) probably null Het
Cxxc1 C T 18: 74,353,992 (GRCm39) R593C probably damaging Het
Dlgap1 T C 17: 70,823,950 (GRCm39) S312P possibly damaging Het
Dnah10 A G 5: 124,840,130 (GRCm39) S1255G probably benign Het
Dpep1 A T 8: 123,927,727 (GRCm39) S388C probably damaging Het
Emid1 T C 11: 5,094,386 (GRCm39) T42A probably damaging Het
Emid1 A C 11: 5,078,884 (GRCm39) L353V probably benign Het
Epn3 A G 11: 94,382,733 (GRCm39) probably null Het
Fam124b T C 1: 80,190,843 (GRCm39) E180G probably benign Het
Fam135b T G 15: 71,335,734 (GRCm39) T487P probably damaging Het
Gja4 G C 4: 127,206,024 (GRCm39) H246Q probably benign Het
Gm9972 GA GAA 11: 42,927,597 (GRCm39) probably null Het
Hmmr G C 11: 40,614,243 (GRCm39) N148K probably damaging Het
Homez C T 14: 55,094,796 (GRCm39) R304K possibly damaging Het
Ifngr1 G A 10: 19,485,221 (GRCm39) V407M probably damaging Het
Inpp5j G T 11: 3,452,527 (GRCm39) T241N possibly damaging Het
Kif12 GGGGC GGGGCCTCCACCCGGCGGGC 4: 63,089,660 (GRCm39) probably benign Het
Kremen1 C T 11: 5,145,105 (GRCm39) A424T probably benign Het
Mtmr3 C T 11: 4,438,441 (GRCm39) R671K probably benign Het
Nacad A G 11: 6,551,632 (GRCm39) C520R probably benign Het
Nacad GCAGGGTCAGGGTC GCAGGGTCAGGGTCAGGGTC 11: 6,549,750 (GRCm39) probably benign Het
Nacad T C 11: 6,551,622 (GRCm39) N523S probably benign Het
Nefh G A 11: 4,890,151 (GRCm39) P823S probably benign Het
Nfrkb G C 9: 31,308,379 (GRCm39) A230P probably benign Het
Nlrp4a A G 7: 26,149,062 (GRCm39) E223G probably damaging Het
Notch3 T A 17: 32,365,391 (GRCm39) Y1107F probably damaging Het
Or10ak9 G T 4: 118,726,500 (GRCm39) R174M probably benign Het
Or13g1 A T 7: 85,955,492 (GRCm39) Y276* probably null Het
Or6c35 A G 10: 129,169,314 (GRCm39) D188G probably benign Het
Osm A G 11: 4,189,588 (GRCm39) D124G probably benign Het
Plekhm2 TTCCTCCTCCT TTCCTCCT 4: 141,359,292 (GRCm39) probably benign Het
Pomgnt1 C T 4: 115,994,624 (GRCm39) probably benign Het
Spen A G 4: 141,201,664 (GRCm39) V2321A probably benign Het
Sytl1 TCTGC TC 4: 132,984,305 (GRCm39) probably benign Het
Tcn2 G C 11: 3,873,487 (GRCm39) F286L possibly damaging Het
Tg T C 15: 66,560,712 (GRCm39) S10P probably benign Het
Tmprss7 C T 16: 45,501,096 (GRCm39) R235Q probably benign Het
Tns3 G A 11: 8,499,100 (GRCm39) probably benign Het
Tns3 G T 11: 8,401,146 (GRCm39) L1051M probably benign Het
Tns3 T G 11: 8,429,518 (GRCm39) E806A probably benign Het
Toe1 T C 4: 116,663,290 (GRCm39) I62M probably benign Het
Txnrd2 A G 16: 18,294,315 (GRCm39) H436R probably damaging Het
Ubr4 C T 4: 139,179,092 (GRCm39) P2001S probably damaging Het
Vmn2r23 T A 6: 123,690,120 (GRCm39) M332K probably benign Het
Zbtb8a GG GGATG 4: 129,253,812 (GRCm39) probably benign Het
Zbtb8a T C 4: 129,254,005 (GRCm39) H163R probably benign Het
Zfyve21 A G 12: 111,794,067 (GRCm39) D206G probably damaging Het
Zkscan4 AGAGGAG AGAG 13: 21,663,370 (GRCm39) probably benign Het
Zmym1 A C 4: 126,943,466 (GRCm39) H307Q probably benign Het
Zmym1 C T 4: 126,941,740 (GRCm39) D785N probably benign Het
Zmym1 C T 4: 126,942,043 (GRCm39) V684I probably benign Het
Zpld2 GTG GTGCTG 4: 133,929,940 (GRCm39) 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
IGL02929:Mat2b APN 11 40,575,540 (GRCm39) missense probably benign
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
Z1176:Mat2b UTSW 11 40,578,604 (GRCm39) missense probably benign
Z1176:Mat2b UTSW 11 40,573,312 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2015-02-04