Incidental Mutation 'IGL00661:Mmaa'
ID 12036
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mmaa
Ensembl Gene ENSMUSG00000037022
Gene Name methylmalonic aciduria (cobalamin deficiency) type A
Synonyms 2810018E08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00661
Quality Score
Status
Chromosome 8
Chromosomal Location 79990227-80021566 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 80008199 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 13 (R13C)
Ref Sequence ENSEMBL: ENSMUSP00000147987 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048718] [ENSMUST00000210231]
AlphaFold Q8C7H1
Predicted Effect probably benign
Transcript: ENSMUST00000048718
AA Change: R13C

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000048826
Gene: ENSMUSG00000037022
AA Change: R13C

DomainStartEndE-ValueType
low complexity region 113 133 N/A INTRINSIC
AAA 139 307 5.81e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000210231
AA Change: R13C

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
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 is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A G 4: 144,430,263 (GRCm39) V242A possibly damaging Het
Antxr2 T C 5: 98,152,155 (GRCm39) D152G probably benign Het
Blmh A T 11: 76,856,758 (GRCm39) K118* probably null Het
Bnip3 G A 7: 138,499,801 (GRCm39) P62L probably damaging Het
Catsperb A T 12: 101,554,357 (GRCm39) T684S probably damaging Het
Chd3 C A 11: 69,248,209 (GRCm39) K894N possibly damaging Het
Chkb T A 15: 89,311,794 (GRCm39) R133S probably benign Het
Dennd5a T C 7: 109,507,579 (GRCm39) N803S probably benign Het
Dync2li1 A T 17: 84,956,668 (GRCm39) D276V possibly damaging Het
Erap1 T C 13: 74,822,908 (GRCm39) probably benign Het
Hgsnat C T 8: 26,462,965 (GRCm39) V70M probably benign Het
Leprot T C 4: 101,509,673 (GRCm39) probably null Het
Lhcgr G A 17: 89,057,546 (GRCm39) A315V probably benign Het
Lrrn4 C T 2: 132,712,588 (GRCm39) V412I probably benign Het
Macrod2 G A 2: 140,261,824 (GRCm39) probably null Het
Plpp4 T A 7: 128,918,023 (GRCm39) I66N probably damaging Het
Prl4a1 T C 13: 28,205,359 (GRCm39) V108A probably benign Het
Prss1 G T 6: 41,439,553 (GRCm39) K95N possibly damaging Het
Rasa2 C T 9: 96,459,606 (GRCm39) probably benign Het
Relb A G 7: 19,350,336 (GRCm39) V208A possibly damaging Het
Sema3d T C 5: 12,555,806 (GRCm39) S178P probably damaging Het
Slc18a1 A T 8: 69,526,383 (GRCm39) W102R probably benign Het
Slc39a8 A C 3: 135,563,873 (GRCm39) K239N probably benign Het
Stap1 A G 5: 86,229,132 (GRCm39) H100R probably benign Het
Suz12 T A 11: 79,889,918 (GRCm39) V143E probably damaging Het
Tmf1 A G 6: 97,153,455 (GRCm39) V206A probably benign Het
Trim16 T A 11: 62,728,058 (GRCm39) probably benign Het
Ube2b C T 11: 51,891,119 (GRCm39) probably null Het
Vmn1r223 T C 13: 23,434,254 (GRCm39) S283P probably damaging Het
Wrn T A 8: 33,809,173 (GRCm39) probably benign Het
Other mutations in Mmaa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01357:Mmaa APN 8 79,994,600 (GRCm39) missense probably benign
IGL02321:Mmaa APN 8 80,000,759 (GRCm39) missense probably damaging 1.00
R2118:Mmaa UTSW 8 79,994,588 (GRCm39) nonsense probably null
R2420:Mmaa UTSW 8 80,008,061 (GRCm39) missense probably damaging 1.00
R2421:Mmaa UTSW 8 80,008,061 (GRCm39) missense probably damaging 1.00
R3963:Mmaa UTSW 8 79,994,843 (GRCm39) missense probably damaging 1.00
R7709:Mmaa UTSW 8 79,995,830 (GRCm39) missense probably damaging 1.00
R7711:Mmaa UTSW 8 79,994,774 (GRCm39) missense probably benign
R8683:Mmaa UTSW 8 79,994,598 (GRCm39) missense probably damaging 1.00
R9239:Mmaa UTSW 8 79,995,856 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06