Incidental Mutation 'IGL00846:Mmab'
ID 12038
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mmab
Ensembl Gene ENSMUSG00000029575
Gene Name methylmalonic aciduria (cobalamin deficiency) cblB type homolog (human)
Synonyms 9130222L19Rik, ATP:Cob(I)alamin Adenosyltransferase
Accession Numbers
Essential gene? Probably non essential (E-score: 0.200) question?
Stock # IGL00846
Quality Score
Status
Chromosome 5
Chromosomal Location 114569095-114582121 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 114571378 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9D273
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
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: 126,098,350 (GRCm39) T181A probably damaging Het
Caskin1 T C 17: 24,718,323 (GRCm39) probably null Het
Cass4 A C 2: 172,271,643 (GRCm39) probably benign Het
Cdh26 A T 2: 178,123,417 (GRCm39) Y672F possibly damaging Het
Cep290 T A 10: 100,376,195 (GRCm39) probably benign Het
Cntnap2 T C 6: 47,169,972 (GRCm39) L1146P probably benign Het
Cntnap5b T G 1: 100,091,948 (GRCm39) C230G probably damaging Het
Ctnnd1 C T 2: 84,452,354 (GRCm39) probably null Het
Cux1 A G 5: 136,355,650 (GRCm39) I324T probably damaging Het
Dnajb4 T C 3: 151,899,118 (GRCm39) N36S probably damaging Het
Fancc T A 13: 63,488,270 (GRCm39) T237S possibly damaging Het
Fip1l1 A G 5: 74,747,726 (GRCm39) probably benign Het
Hemgn G T 4: 46,396,171 (GRCm39) T355K possibly damaging Het
Hivep1 T A 13: 42,321,092 (GRCm39) L42* probably null Het
Hps3 A G 3: 20,079,956 (GRCm39) W234R probably benign Het
Kit A T 5: 75,801,471 (GRCm39) N586I probably damaging Het
Mettl14 T A 3: 123,165,012 (GRCm39) K109N probably damaging Het
Naprt T A 15: 75,763,637 (GRCm39) Y395F probably benign Het
Nostrin C T 2: 69,015,899 (GRCm39) probably benign Het
Pgap1 G T 1: 54,531,180 (GRCm39) probably benign Het
Plpp5 A T 8: 26,210,585 (GRCm39) I59F probably damaging Het
Prrc2b T C 2: 32,089,109 (GRCm39) probably benign Het
Scn4a A T 11: 106,218,944 (GRCm39) V958D probably benign Het
Serpinb3b T A 1: 107,083,579 (GRCm39) N200I probably damaging Het
Slc22a15 T A 3: 101,768,136 (GRCm39) Q512L probably benign Het
Tmf1 A T 6: 97,150,277 (GRCm39) Y477N possibly damaging Het
Trim10 T A 17: 37,182,584 (GRCm39) L150H probably damaging Het
Ttc41 A G 10: 86,572,797 (GRCm39) E723G possibly damaging Het
Usp25 A G 16: 76,859,293 (GRCm39) S264G probably damaging Het
Vopp1 A G 6: 57,731,465 (GRCm39) probably benign Het
Wapl G T 14: 34,414,701 (GRCm39) probably benign Het
Wbp1 A G 6: 83,097,022 (GRCm39) F93S probably damaging Het
Wt1 G T 2: 104,997,302 (GRCm39) R413L probably damaging Het
Zfp345 C T 2: 150,314,538 (GRCm39) G333D possibly damaging Het
Zmynd11 C A 13: 9,770,808 (GRCm39) probably null Het
Other mutations in Mmab
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03139:Mmab APN 5 114,571,405 (GRCm39) missense probably damaging 1.00
R0066:Mmab UTSW 5 114,574,526 (GRCm39) splice site probably benign
R0066:Mmab UTSW 5 114,574,526 (GRCm39) splice site probably benign
R2567:Mmab UTSW 5 114,571,378 (GRCm39) missense probably benign 0.03
R2996:Mmab UTSW 5 114,574,555 (GRCm39) missense probably damaging 1.00
R5575:Mmab UTSW 5 114,574,832 (GRCm39) missense probably damaging 1.00
R5772:Mmab UTSW 5 114,574,775 (GRCm39) missense probably damaging 1.00
R7510:Mmab UTSW 5 114,573,283 (GRCm39) missense probably benign
R9563:Mmab UTSW 5 114,574,850 (GRCm39) missense probably benign 0.02
Posted On 2012-12-06