Incidental Mutation 'R9239:Mmaa'
ID 700636
Institutional Source Beutler Lab
Gene Symbol Mmaa
Ensembl Gene ENSMUSG00000037022
Gene Name methylmalonic aciduria (cobalamin deficiency) type A
Synonyms 2810018E08Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9239 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 79990227-80021566 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79995856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 289 (D289G)
Ref Sequence ENSEMBL: ENSMUSP00000048826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048718] [ENSMUST00000210231]
AlphaFold Q8C7H1
Predicted Effect probably damaging
Transcript: ENSMUST00000048718
AA Change: D289G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000048826
Gene: ENSMUSG00000037022
AA Change: D289G

DomainStartEndE-ValueType
low complexity region 113 133 N/A INTRINSIC
AAA 139 307 5.81e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000210231
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 100% (44/44)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot8 A G 2: 164,646,608 (GRCm39) probably null Het
Aldh1l2 A G 10: 83,342,496 (GRCm39) F438S probably damaging Het
Alk T A 17: 72,256,864 (GRCm39) N665I probably benign Het
Anxa4 T A 6: 86,734,812 (GRCm39) T59S probably benign Het
B3gnt8 ACCCC ACCC 7: 25,327,676 (GRCm39) probably null Het
Cabs1 G A 5: 88,127,385 (GRCm39) R12Q probably benign Het
Cep152 A G 2: 125,425,830 (GRCm39) V845A probably benign Het
Dipk1a T C 5: 108,059,572 (GRCm39) E127G possibly damaging Het
Dsg1a T A 18: 20,473,750 (GRCm39) V941E probably damaging Het
Fbxo11 G T 17: 88,316,522 (GRCm39) H284N Het
Fubp1 A G 3: 151,923,486 (GRCm39) E98G probably damaging Het
Fyco1 A G 9: 123,626,637 (GRCm39) I1358T probably damaging Het
Ginm1 T C 10: 7,649,825 (GRCm39) N156S possibly damaging Het
Gm3739 T C 14: 18,505,221 (GRCm39) Y101C probably damaging Het
Ide T C 19: 37,307,898 (GRCm39) N38S Het
Itgb4 T C 11: 115,898,130 (GRCm39) V1644A probably damaging Het
Itpka A G 2: 119,580,023 (GRCm39) D254G probably damaging Het
Kat7 T A 11: 95,197,020 (GRCm39) R6S probably benign Het
Klhl40 A T 9: 121,607,637 (GRCm39) T266S probably benign Het
Lratd1 A G 12: 14,200,185 (GRCm39) W181R probably damaging Het
Muc5ac A T 7: 141,353,954 (GRCm39) D851V probably damaging Het
Or1e29 A G 11: 73,667,346 (GRCm39) V269A probably benign Het
Or52n4 G T 7: 104,293,746 (GRCm39) H278N probably damaging Het
Or6b3 T C 1: 92,439,454 (GRCm39) T99A probably benign Het
Pcdh17 T G 14: 84,770,649 (GRCm39) I1042M probably benign Het
Pipox A G 11: 77,774,765 (GRCm39) I106T probably benign Het
Ppcs C T 4: 119,276,235 (GRCm39) V290M possibly damaging Het
Rnasel T A 1: 153,630,097 (GRCm39) N204K probably damaging Het
Runx1 A G 16: 92,402,935 (GRCm39) Y336H probably damaging Het
Sell A G 1: 163,893,176 (GRCm39) I131V possibly damaging Het
Serpina3f A G 12: 104,184,710 (GRCm39) R285G possibly damaging Het
Slc25a2 A T 18: 37,771,169 (GRCm39) M120K possibly damaging Het
Slc47a1 A T 11: 61,250,344 (GRCm39) probably null Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Spats2l A G 1: 57,871,257 (GRCm39) probably benign Het
Spopfm1 T A 3: 94,173,871 (GRCm39) V289E probably benign Het
Taf1b T A 12: 24,606,015 (GRCm39) L431H probably damaging Het
Tectb CT C 19: 55,181,094 (GRCm39) probably null Het
Thsd7b G A 1: 130,087,453 (GRCm39) probably null Het
Tmtc4 A G 14: 123,165,078 (GRCm39) Y594H possibly damaging Het
Trim33 T C 3: 103,237,453 (GRCm39) F599L probably benign Het
Vcl A G 14: 21,072,092 (GRCm39) D819G probably damaging Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn2r1 G T 3: 64,011,959 (GRCm39) V607L probably damaging Het
Other mutations in Mmaa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00661:Mmaa APN 8 80,008,199 (GRCm39) missense probably damaging 0.98
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
Predicted Primers PCR Primer
(F):5'- GTCTAGCATGCGACCTATGG -3'
(R):5'- TTCCAAGGGCTGGTACATTTAG -3'

Sequencing Primer
(F):5'- GGCCTCTCTCCTAAGGTACACAG -3'
(R):5'- TATCTGGCACATGAACTCAGG -3'
Posted On 2022-02-07