Incidental Mutation 'R4092:Mmadhc'
ID 317652
Institutional Source Beutler Lab
Gene Symbol Mmadhc
Ensembl Gene ENSMUSG00000026766
Gene Name methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
Synonyms 2010311D03Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.430) question?
Stock # R4092 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 50169893-50186813 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 50177895 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 174 (M174T)
Ref Sequence ENSEMBL: ENSMUSP00000122804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102769] [ENSMUST00000133768] [ENSMUST00000144143]
AlphaFold Q99LS1
Predicted Effect probably benign
Transcript: ENSMUST00000102769
AA Change: M174T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099830
Gene: ENSMUSG00000026766
AA Change: M174T

DomainStartEndE-ValueType
Pfam:DUF2246 24 294 8.5e-134 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133768
AA Change: M174T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115961
Gene: ENSMUSG00000026766
AA Change: M174T

DomainStartEndE-ValueType
Pfam:DUF2246 20 179 1.8e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134480
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140563
Predicted Effect probably benign
Transcript: ENSMUST00000144143
AA Change: M174T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122804
Gene: ENSMUSG00000026766
AA Change: M174T

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 0.0581 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (53/53)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik A T 9: 124,055,903 (GRCm39) H340Q probably benign Het
Adam22 A T 5: 8,145,004 (GRCm39) I116N probably damaging Het
Adamts2 T A 11: 50,678,103 (GRCm39) V794E probably damaging Het
Ak9 T C 10: 41,265,140 (GRCm39) S966P probably benign Het
Alox5 G A 6: 116,389,635 (GRCm39) probably benign Het
Bmerb1 G A 16: 13,867,346 (GRCm39) R68H probably damaging Het
Brip1 C T 11: 86,039,347 (GRCm39) D396N possibly damaging Het
Catsper3 C T 13: 55,932,484 (GRCm39) H4Y probably benign Het
Cmtm2a T C 8: 105,019,403 (GRCm39) Y62C probably benign Het
Crim1 T C 17: 78,658,265 (GRCm39) C715R probably damaging Het
Dio3 A G 12: 110,246,234 (GRCm39) D190G possibly damaging Het
Efl1 A G 7: 82,412,035 (GRCm39) E808G probably benign Het
Eif1ad16 A T 12: 87,985,194 (GRCm39) N116K possibly damaging Het
Fam83b T C 9: 76,398,943 (GRCm39) D720G probably benign Het
Fbp2 C T 13: 62,988,174 (GRCm39) V246M possibly damaging Het
Gm10197 G A 19: 53,360,196 (GRCm39) probably benign Het
Icam2 C A 11: 106,271,623 (GRCm39) M1I probably null Het
Insyn2b G A 11: 34,351,935 (GRCm39) probably benign Het
Kit T C 5: 75,771,470 (GRCm39) I209T probably benign Het
Lcmt1 T C 7: 123,017,476 (GRCm39) V200A probably damaging Het
Lrrn2 C T 1: 132,865,390 (GRCm39) Q152* probably null Het
N4bp2 A G 5: 65,947,799 (GRCm39) N143S probably benign Het
Ndufs1 G A 1: 63,196,405 (GRCm39) A340V possibly damaging Het
Nid1 A G 13: 13,661,224 (GRCm39) D708G probably damaging Het
Noc2l A C 4: 156,327,033 (GRCm39) T295P probably damaging Het
Nutm1 T A 2: 112,079,809 (GRCm39) N702I probably damaging Het
Obscn T A 11: 58,946,886 (GRCm39) M4083L probably benign Het
Or5b104 T C 19: 13,072,790 (GRCm39) Y74C probably damaging Het
Otol1 T A 3: 69,935,118 (GRCm39) I370N probably damaging Het
Paip1 T G 13: 119,586,449 (GRCm39) S58A probably benign Het
Pfas T C 11: 68,884,775 (GRCm39) T476A probably benign Het
Plppr3 G T 10: 79,703,314 (GRCm39) R57S probably damaging Het
Ptgir T C 7: 16,640,932 (GRCm39) S75P probably damaging Het
Raver1 A T 9: 20,992,568 (GRCm39) L287Q probably damaging Het
Rps6ka4 C T 19: 6,809,623 (GRCm39) probably null Het
Rps6-ps2 A G 8: 89,533,319 (GRCm39) noncoding transcript Het
Scn11a T A 9: 119,619,036 (GRCm39) M769L probably benign Het
Serpina16 G T 12: 103,638,836 (GRCm39) H250Q probably benign Het
Serpina3a G A 12: 104,082,625 (GRCm39) V133I probably benign Het
Slc12a8 G A 16: 33,437,491 (GRCm39) G308D probably damaging Het
Slfn5 T C 11: 82,851,893 (GRCm39) L673P probably damaging Het
Sorcs2 T C 5: 36,183,166 (GRCm39) K1036E possibly damaging Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Sptbn5 C A 2: 119,897,532 (GRCm39) E550D probably damaging Het
Srgap3 G T 6: 112,700,045 (GRCm39) P1002T probably benign Het
Tollip C T 7: 141,438,180 (GRCm39) R181H probably damaging Het
Trmt1l T A 1: 151,330,784 (GRCm39) S600R probably benign Het
Vps16 T A 2: 130,281,832 (GRCm39) Y315N probably damaging Het
Vps50 A G 6: 3,551,037 (GRCm39) E367G probably benign 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
R4214:Mmadhc UTSW 2 50,181,344 (GRCm39) missense probably benign
R4498:Mmadhc UTSW 2 50,170,236 (GRCm39) missense probably benign 0.25
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'- CCCTAAGTCTACAGCAGTCTAAATC -3'
(R):5'- ACTGTTCAAAAGCAGCCACG -3'

Sequencing Primer
(F):5'- CAGCAGTCTAAATCTAAAGTAACCTC -3'
(R):5'- GCAGGCGCGCGTAAATCTG -3'
Posted On 2015-05-15