Incidental Mutation 'IGL00846:Mmab'
ID12038
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mmab
Ensembl Gene ENSMUSG00000029575
Gene Namemethylmalonic aciduria (cobalamin deficiency) cblB type homolog (human)
Synonyms9130222L19Rik, ATP:Cob(I)alamin Adenosyltransferase
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.158) question?
Stock #IGL00846
Quality Score
Status
Chromosome5
Chromosomal Location114431034-114444060 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 114433317 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 166 (M166K)
Ref Sequence ENSEMBL: ENSMUSP00000107864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031560] [ENSMUST00000112245] [ENSMUST00000123256]
Predicted Effect probably benign
Transcript: ENSMUST00000031560
AA Change: M223K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000031560
Gene: ENSMUSG00000029575
AA Change: M223K

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:Cob_adeno_trans 52 221 9.5e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112245
AA Change: M166K

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000107864
Gene: ENSMUSG00000029575
AA Change: M166K

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:Cob_adeno_trans 52 111 1.4e-16 PFAM
Pfam:Cob_adeno_trans 108 165 1.5e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123256
SMART Domains Protein: ENSMUSP00000142979
Gene: ENSMUSG00000029575

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:Cob_adeno_trans 52 220 4.7e-50 PFAM
SMART Domains
(Predicted Sequence)

DomainStartEndE-ValueType
low complexity region 5 22 N/A INTRINSIC
Pfam:Cob_adeno_trans 52 222 4.6e-54 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that catalyzes the final step in the conversion of vitamin B(12) into adenosylcobalamin (AdoCbl), a vitamin B12-containing coenzyme for methylmalonyl-CoA mutase. Mutations in the gene are the cause of vitamin B12-dependent methylmalonic aciduria linked to the cblB complementation group. Alternatively spliced transcript variants have been found. [provided by RefSeq, Apr 2011]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn2l T C 7: 126,499,178 T181A probably damaging Het
Caskin1 T C 17: 24,499,349 probably null Het
Cass4 A C 2: 172,429,723 probably benign Het
Cdh26 A T 2: 178,481,624 Y672F possibly damaging Het
Cep290 T A 10: 100,540,333 probably benign Het
Cntnap2 T C 6: 47,193,038 L1146P probably benign Het
Cntnap5b T G 1: 100,164,223 C544G probably damaging Het
Ctnnd1 C T 2: 84,622,010 probably null Het
Cux1 A G 5: 136,326,796 I324T probably damaging Het
Dnajb4 T C 3: 152,193,481 N36S probably damaging Het
Fancc T A 13: 63,340,456 T237S possibly damaging Het
Fip1l1 A G 5: 74,587,065 probably benign Het
Hemgn G T 4: 46,396,171 T355K possibly damaging Het
Hivep1 T A 13: 42,167,616 L2133* probably null Het
Hps3 A G 3: 20,025,792 W234R probably benign Het
Kit A T 5: 75,640,811 N586I probably damaging Het
Mettl14 T A 3: 123,371,363 K326N probably damaging Het
Naprt T A 15: 75,891,788 Y395F probably benign Het
Nostrin C T 2: 69,185,555 probably benign Het
Pgap1 G T 1: 54,492,021 probably benign Het
Plpp5 A T 8: 25,720,558 I59F probably damaging Het
Prrc2b T C 2: 32,199,097 probably benign Het
Scn4a A T 11: 106,328,118 V958D probably benign Het
Serpinb3b T A 1: 107,155,849 N200I probably damaging Het
Slc22a15 T A 3: 101,860,820 Q512L probably benign Het
Tmf1 A T 6: 97,173,316 Y477N possibly damaging Het
Trim10 T A 17: 36,871,692 L150H probably damaging Het
Ttc41 A G 10: 86,736,933 E723G possibly damaging Het
Usp25 A G 16: 77,062,405 S264G probably damaging Het
Vopp1 A G 6: 57,754,480 probably benign Het
Wapl G T 14: 34,692,744 probably benign Het
Wbp1 A G 6: 83,120,041 F93S probably damaging Het
Wt1 G T 2: 105,166,957 R413L probably damaging Het
Zfp345 C T 2: 150,472,618 G333D possibly damaging Het
Zmynd11 C A 13: 9,720,772 probably null Het
Other mutations in Mmab
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03139:Mmab APN 5 114433344 missense probably damaging 1.00
R0066:Mmab UTSW 5 114436465 splice donor site probably benign
R0066:Mmab UTSW 5 114436465 splice site probably benign
R2567:Mmab UTSW 5 114433317 missense probably benign 0.03
R2996:Mmab UTSW 5 114436494 missense probably damaging 1.00
R5575:Mmab UTSW 5 114436771 missense probably damaging 1.00
R5772:Mmab UTSW 5 114436714 missense probably damaging 1.00
Posted On2012-12-06