Incidental Mutation 'R9633:Mmadhc'
ID 725644
Institutional Source Beutler Lab
Gene Symbol Mmadhc
Ensembl Gene ENSMUSG00000026766
Gene Name methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
Synonyms 2010311D03Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.430) question?
Stock # R9633 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 50169893-50186813 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 50178988 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 143 (S143R)
Ref Sequence ENSEMBL: ENSMUSP00000099830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102769] [ENSMUST00000133768] [ENSMUST00000144143]
AlphaFold Q99LS1
Predicted Effect probably benign
Transcript: ENSMUST00000102769
AA Change: S143R

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099830
Gene: ENSMUSG00000026766
AA Change: S143R

DomainStartEndE-ValueType
Pfam:DUF2246 24 294 8.5e-134 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133768
AA Change: S143R

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000115961
Gene: ENSMUSG00000026766
AA Change: S143R

DomainStartEndE-ValueType
Pfam:DUF2246 20 179 1.8e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000144143
AA Change: S143R

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000122804
Gene: ENSMUSG00000026766
AA Change: S143R

DomainStartEndE-ValueType
Pfam:DUF2246 20 219 1.5e-84 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
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
Acot11 A G 4: 106,613,178 (GRCm39) V319A probably damaging Het
Afap1l1 A C 18: 61,890,795 (GRCm39) S53A possibly damaging Het
Alms1 T A 6: 85,600,125 (GRCm39) N1650K probably damaging Het
Atf6b T A 17: 34,872,507 (GRCm39) V553E possibly damaging Het
Avl9 T A 6: 56,707,634 (GRCm39) I193N probably damaging Het
Ceacam3 A G 7: 16,895,688 (GRCm39) N553D Het
Dnah3 C A 7: 119,550,216 (GRCm39) V389L probably benign Het
Erich6 T C 3: 58,537,277 (GRCm39) M246V probably benign Het
F830016B08Rik A T 18: 60,432,965 (GRCm39) D16V probably damaging Het
Fgfr1 T A 8: 26,060,776 (GRCm39) Y483N probably damaging Het
Fmo4 T A 1: 162,631,191 (GRCm39) M259L probably benign Het
Gnat2 T A 3: 108,002,770 (GRCm39) D59E probably benign Het
Izumo3 T A 4: 92,034,795 (GRCm39) Y94F probably damaging Het
Kcnb2 A T 1: 15,781,444 (GRCm39) H772L probably benign Het
Kcnrg CACAACAA CACAA 14: 61,845,009 (GRCm39) probably benign Het
Krt6b C T 15: 101,586,996 (GRCm39) V259M probably benign Het
Lingo2 A G 4: 35,709,885 (GRCm39) C32R Het
Lrrtm4 C T 6: 80,000,064 (GRCm39) T492M probably damaging Het
Maea T A 5: 33,526,050 (GRCm39) M242K possibly damaging Het
Mdga2 T C 12: 66,736,206 (GRCm39) T341A probably benign Het
Mfsd14b C A 13: 65,221,414 (GRCm39) V293L probably benign Het
Ms4a8a A G 19: 11,056,956 (GRCm39) V42A probably benign Het
N4bp2l2 A T 5: 150,585,103 (GRCm39) H292Q probably benign Het
Nkx2-2 A G 2: 147,027,686 (GRCm39) Y85H possibly damaging Het
Pramel14 T C 4: 143,720,818 (GRCm39) K41R possibly damaging Het
Psmb9 T A 17: 34,402,119 (GRCm39) D159V probably damaging Het
Rgs4 T A 1: 169,572,843 (GRCm39) D31V possibly damaging Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Slc22a14 A G 9: 119,008,528 (GRCm39) S247P probably benign Het
Slc26a7 G A 4: 14,524,540 (GRCm39) T448I possibly damaging Het
Slc7a14 T A 3: 31,278,166 (GRCm39) T480S probably benign Het
Spocd1 T C 4: 129,850,463 (GRCm39) S830P unknown Het
Sycp2 A G 2: 177,998,254 (GRCm39) S1089P probably damaging Het
Tcf4 A T 18: 69,726,382 (GRCm39) probably benign Het
Tktl2 T C 8: 66,965,813 (GRCm39) V457A probably benign Het
Tmem131 A T 1: 36,847,069 (GRCm39) I1343N probably damaging Het
Tnrc6c G A 11: 117,638,009 (GRCm39) A1164T probably damaging Het
Tomm5 G A 4: 45,107,982 (GRCm39) R18W probably damaging Het
Ubxn7 T C 16: 32,200,248 (GRCm39) S335P probably benign Het
Unc5c A C 3: 141,495,654 (GRCm39) T508P probably damaging Het
Upp1 G A 11: 9,084,909 (GRCm39) M209I Het
Vmn1r213 A G 13: 23,195,519 (GRCm39) D34G unknown Het
Vmn1r235 G T 17: 21,482,330 (GRCm39) W218C possibly damaging Het
Vmn1r235 G T 17: 21,482,329 (GRCm39) W218L probably benign Het
Vmn2r57 T C 7: 41,076,006 (GRCm39) E502G probably benign Het
Wwc2 GCC GCCC 8: 48,304,959 (GRCm39) probably null Het
Zfc3h1 T A 10: 115,247,852 (GRCm39) H1018Q probably damaging Het
Zfp318 T A 17: 46,710,421 (GRCm39) S715T probably damaging 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
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
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'- AGCTCAAGCAATCATTTCTATCCAG -3'
(R):5'- TTGTCAGACTTCAAGACCTGTTTC -3'

Sequencing Primer
(F):5'- GGAGTTCCTCACTAAGCAT -3'
(R):5'- TTACAGCATAATGGACTAGCAAAAG -3'
Posted On 2022-09-12