Incidental Mutation 'R4498:Mmadhc'
ID 331680
Institutional Source Beutler Lab
Gene Symbol Mmadhc
Ensembl Gene ENSMUSG00000026766
Gene Name methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
Synonyms 2010311D03Rik
MMRRC Submission 041751-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.465) question?
Stock # R4498 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 50169893-50186813 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 50170236 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 292 (K292R)
Ref Sequence ENSEMBL: ENSMUSP00000099830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102769] [ENSMUST00000144143]
AlphaFold Q99LS1
Predicted Effect probably benign
Transcript: ENSMUST00000102769
AA Change: K292R

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000099830
Gene: ENSMUSG00000026766
AA Change: K292R

DomainStartEndE-ValueType
Pfam:DUF2246 24 294 8.5e-134 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134480
Predicted Effect probably benign
Transcript: ENSMUST00000144143
SMART Domains Protein: ENSMUSP00000122804
Gene: ENSMUSG00000026766

DomainStartEndE-ValueType
Pfam:DUF2246 20 219 1.5e-84 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147345
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152948
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154254
Meta Mutation Damage Score 0.1062 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 91% (53/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial protein that is involved in an early step of vitamin B12 metabolism. Vitamin B12 (cobalamin) is essential for normal development and survival in humans. Mutations in this gene cause methylmalonic aciduria and homocystinuria type cblD (MMADHC), a disorder of cobalamin metabolism that is characterized by decreased levels of the coenzymes adenosylcobalamin and methylcobalamin. Pseudogenes have been identified on chromosomes 11 and X.[provided by RefSeq, Nov 2008]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 G A 15: 81,779,486 (GRCm39) A97T probably damaging Het
Acot9 T A X: 154,047,064 (GRCm39) L18* probably null Het
Arhgap12 A T 18: 6,111,774 (GRCm39) C69S probably damaging Het
Ccdc17 G T 4: 116,454,438 (GRCm39) probably benign Het
Ctnnd2 A C 15: 30,620,020 (GRCm39) D124A probably damaging Het
Cux1 T C 5: 136,341,847 (GRCm39) N424S probably damaging Het
Dhrs7c T C 11: 67,706,706 (GRCm39) F214S possibly damaging Het
Fat2 T C 11: 55,160,923 (GRCm39) D3269G possibly damaging Het
Fhod3 T A 18: 25,243,296 (GRCm39) probably null Het
Glul G T 1: 153,782,849 (GRCm39) G187* probably null Het
Gnmt ATTAGGGGATGGTCTTAGGG ATTAGGG 17: 47,036,662 (GRCm39) 294 probably benign Het
H2-Q7 A T 17: 35,658,506 (GRCm39) Y48F probably damaging Het
Hes3 T C 4: 152,371,542 (GRCm39) T136A probably benign Het
Krt40 T C 11: 99,433,900 (GRCm39) T29A possibly damaging Het
Lrrc37a C A 11: 103,392,624 (GRCm39) D934Y probably benign Het
Mctp2 T A 7: 71,833,599 (GRCm39) D581V probably damaging Het
Med27 T C 2: 29,361,354 (GRCm39) S38P probably damaging Het
Mff A G 1: 82,719,501 (GRCm39) probably benign Het
Mmp24 A G 2: 155,655,908 (GRCm39) I449V possibly damaging Het
Mthfd1 G T 12: 76,361,764 (GRCm39) L123F probably damaging Het
Mug2 T A 6: 122,059,711 (GRCm39) L1363Q probably damaging Het
Myh4 T C 11: 67,142,578 (GRCm39) I913T probably damaging Het
Myo16 T A 8: 10,485,869 (GRCm39) N649K probably benign Het
Myo7b A G 18: 32,147,282 (GRCm39) I87T probably benign Het
Ndst4 A G 3: 125,232,007 (GRCm39) D192G probably damaging Het
Nup155 A G 15: 8,183,157 (GRCm39) D1239G possibly damaging Het
Or5b21 T C 19: 12,840,033 (GRCm39) V298A probably damaging Het
Or7e173 G C 9: 19,939,029 (GRCm39) N68K possibly damaging Het
Phf10 T A 17: 15,165,377 (GRCm39) N493I probably benign Het
Pramel32 A T 4: 88,547,129 (GRCm39) probably null Het
Prr12 T C 7: 44,695,338 (GRCm39) E1376G unknown Het
Rasa3 T C 8: 13,664,587 (GRCm39) H75R probably benign Het
Rin3 G A 12: 102,335,939 (GRCm39) V537M probably damaging Het
Samd4 C T 14: 47,333,566 (GRCm39) T272I probably damaging Het
Septin5 C T 16: 18,442,142 (GRCm39) G257D probably damaging Het
Serpina6 T C 12: 103,620,326 (GRCm39) K141R probably benign Het
Siglecf T A 7: 43,001,700 (GRCm39) I170N possibly damaging Het
Spopl C T 2: 23,407,957 (GRCm39) V241M probably damaging Het
Stk40 G A 4: 126,023,544 (GRCm39) probably null Het
Syne1 A G 10: 4,981,768 (GRCm39) S8700P probably benign Het
Tbc1d4 C T 14: 101,845,772 (GRCm39) G42E probably damaging Het
Tfap2c C T 2: 172,399,102 (GRCm39) Q425* probably null Het
Tmem255b T C 8: 13,505,998 (GRCm39) S202P probably damaging Het
Traf6 T C 2: 101,514,891 (GRCm39) S16P probably benign Het
Ttc12 A G 9: 49,383,705 (GRCm39) I66T probably damaging Het
Ttc21a G A 9: 119,787,885 (GRCm39) D818N possibly damaging Het
Zfp81 A T 17: 33,553,677 (GRCm39) I379N possibly damaging Het
Zgrf1 C A 3: 127,379,749 (GRCm39) S211* probably null Het
Other mutations in Mmadhc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00417:Mmadhc APN 2 50,179,043 (GRCm39) missense probably benign
IGL01732:Mmadhc APN 2 50,171,197 (GRCm39) missense probably damaging 1.00
IGL02397:Mmadhc APN 2 50,178,992 (GRCm39) missense possibly damaging 0.82
R0091:Mmadhc UTSW 2 50,182,869 (GRCm39) missense probably damaging 1.00
R0458:Mmadhc UTSW 2 50,171,173 (GRCm39) missense probably benign 0.01
R0573:Mmadhc UTSW 2 50,182,847 (GRCm39) missense possibly damaging 0.79
R1613:Mmadhc UTSW 2 50,170,338 (GRCm39) missense probably damaging 1.00
R2189:Mmadhc UTSW 2 50,178,958 (GRCm39) missense probably damaging 1.00
R4092:Mmadhc UTSW 2 50,177,895 (GRCm39) missense probably benign
R4214:Mmadhc UTSW 2 50,181,344 (GRCm39) missense probably benign
R5355:Mmadhc UTSW 2 50,181,436 (GRCm39) missense probably benign 0.18
R5961:Mmadhc UTSW 2 50,181,421 (GRCm39) missense probably damaging 1.00
R7343:Mmadhc UTSW 2 50,181,457 (GRCm39) missense probably damaging 1.00
R9402:Mmadhc UTSW 2 50,171,119 (GRCm39) missense probably benign
R9623:Mmadhc UTSW 2 50,186,341 (GRCm39) start gained probably benign
R9633:Mmadhc UTSW 2 50,178,988 (GRCm39) missense probably benign 0.31
R9647:Mmadhc UTSW 2 50,186,482 (GRCm39) start gained probably benign
X0018:Mmadhc UTSW 2 50,177,929 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TTGCAATTCTGAAACCCCAAGTC -3'
(R):5'- CCAGCATGCATAGGAACTTTC -3'

Sequencing Primer
(F):5'- GTCACCTGTCCATGTAAACCC -3'
(R):5'- CCAGCATGCATAGGAACTTTCTAATG -3'
Posted On 2015-07-21