Incidental Mutation 'R0573:Mmadhc'
ID 46508
Institutional Source Beutler Lab
Gene Symbol Mmadhc
Ensembl Gene ENSMUSG00000026766
Gene Name methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
Synonyms 2010311D03Rik
MMRRC Submission 038763-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.430) question?
Stock # R0573 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 50169893-50186813 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 50182847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 43 (H43L)
Ref Sequence ENSEMBL: ENSMUSP00000115961 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102769] [ENSMUST00000133768] [ENSMUST00000144143]
AlphaFold Q99LS1
Predicted Effect probably benign
Transcript: ENSMUST00000102769
AA Change: H43L

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000099830
Gene: ENSMUSG00000026766
AA Change: H43L

DomainStartEndE-ValueType
Pfam:DUF2246 24 294 8.5e-134 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123699
Predicted Effect possibly damaging
Transcript: ENSMUST00000133768
AA Change: H43L

PolyPhen 2 Score 0.788 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000115961
Gene: ENSMUSG00000026766
AA Change: H43L

DomainStartEndE-ValueType
Pfam:DUF2246 20 179 1.8e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134480
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138528
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140563
Predicted Effect possibly damaging
Transcript: ENSMUST00000144143
AA Change: H43L

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000122804
Gene: ENSMUSG00000026766
AA Change: H43L

DomainStartEndE-ValueType
Pfam:DUF2246 20 219 1.5e-84 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154254
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147345
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152948
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228816
Meta Mutation Damage Score 0.1949 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 97% (60/62)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,455,278 (GRCm39) K698N possibly damaging Het
Adcy8 A T 15: 64,694,044 (GRCm39) V411D probably damaging Het
Arfgef3 T A 10: 18,475,036 (GRCm39) E1550V probably damaging Het
Asb3 T A 11: 31,011,406 (GRCm39) I306K probably damaging Het
Asic4 T A 1: 75,445,746 (GRCm39) probably benign Het
Basp1 G T 15: 25,364,948 (GRCm39) D16E unknown Het
Cbll1 A T 12: 31,540,539 (GRCm39) I123N probably damaging Het
Ccdc141 A T 2: 76,869,837 (GRCm39) H889Q probably benign Het
Ccdc65 T C 15: 98,618,930 (GRCm39) V303A probably benign Het
Ceacam20 T A 7: 19,720,593 (GRCm39) M60K probably damaging Het
Chd9 T A 8: 91,725,223 (GRCm39) V711D probably damaging Het
Clcn1 T A 6: 42,289,979 (GRCm39) probably null Het
Col16a1 A T 4: 129,962,268 (GRCm39) probably benign Het
Col4a3 C A 1: 82,694,084 (GRCm39) P1568Q possibly damaging Het
Colec12 C A 18: 9,858,650 (GRCm39) P478T probably damaging Het
Dchs1 T C 7: 105,407,985 (GRCm39) H1949R probably damaging Het
Dgka A G 10: 128,572,876 (GRCm39) probably null Het
Dlgap4 A G 2: 156,588,111 (GRCm39) I669V probably benign Het
Dsg1c T A 18: 20,412,298 (GRCm39) D543E probably benign Het
Egflam A T 15: 7,271,906 (GRCm39) C677* probably null Het
Eml5 A C 12: 98,791,031 (GRCm39) probably null Het
Fbn1 G A 2: 125,231,169 (GRCm39) R466C probably damaging Het
Fnbp1 C A 2: 30,948,990 (GRCm39) D198Y probably damaging Het
Gfra3 T A 18: 34,824,668 (GRCm39) M272L probably benign Het
Gm5422 T A 10: 31,126,156 (GRCm39) noncoding transcript Het
Gpr21 T A 2: 37,407,556 (GRCm39) I34N probably damaging Het
Hspb2 G T 9: 50,662,664 (GRCm39) T155K probably benign Het
Il21r A G 7: 125,224,457 (GRCm39) T24A probably benign Het
Morn1 T A 4: 155,195,473 (GRCm39) D278E possibly damaging Het
Myoc T C 1: 162,476,243 (GRCm39) Y316H probably damaging Het
Nags A G 11: 102,037,805 (GRCm39) D266G probably damaging Het
Nlrp4b A G 7: 10,448,142 (GRCm39) N115S probably benign Het
Nlrp5 T A 7: 23,117,056 (GRCm39) I260N probably damaging Het
Obscn G A 11: 58,926,905 (GRCm39) R6190C probably damaging Het
Or5b24 T C 19: 12,912,624 (GRCm39) V174A possibly damaging Het
Or5be3 A G 2: 86,863,812 (GRCm39) F251S probably damaging Het
Orc4 C T 2: 48,807,285 (GRCm39) M215I probably benign Het
Osbpl6 A T 2: 76,420,735 (GRCm39) H770L probably damaging Het
Otogl A C 10: 107,616,849 (GRCm39) N1809K probably benign Het
Pde3a G T 6: 141,437,957 (GRCm39) V1009L probably damaging Het
Pign T C 1: 105,580,902 (GRCm39) Y159C probably damaging Het
Pik3cg C A 12: 32,247,196 (GRCm39) M842I probably damaging Het
Pnliprp1 C T 19: 58,723,314 (GRCm39) T235I possibly damaging Het
Pramel17 A C 4: 101,692,611 (GRCm39) V463G probably damaging Het
Prpf8 A G 11: 75,381,480 (GRCm39) N239D probably damaging Het
Psd2 T A 18: 36,113,546 (GRCm39) probably benign Het
Ptprt T C 2: 161,393,668 (GRCm39) D1251G probably damaging Het
Pwp2 G A 10: 78,018,520 (GRCm39) S88L probably benign Het
Rassf4 C T 6: 116,624,516 (GRCm39) probably benign Het
Rexo1 A G 10: 80,380,684 (GRCm39) S884P probably damaging Het
Rgs20 C A 1: 5,091,037 (GRCm39) R131L possibly damaging Het
Setd4 A G 16: 93,386,834 (GRCm39) V288A probably benign Het
Stx3 G T 19: 11,763,110 (GRCm39) T160K probably damaging Het
Tas2r102 T A 6: 132,739,636 (GRCm39) S181R probably damaging Het
Tenm3 T C 8: 49,127,434 (GRCm39) probably benign Het
Tmem33 T C 5: 67,421,603 (GRCm39) probably benign Het
Trim33 A G 3: 103,259,306 (GRCm39) probably benign Het
Trip11 A G 12: 101,853,119 (GRCm39) I491T probably benign Het
Trp53bp1 A G 2: 121,058,653 (GRCm39) probably benign Het
Tuba4a T C 1: 75,193,017 (GRCm39) D199G probably benign Het
Zcchc4 A G 5: 52,953,321 (GRCm39) Y110C probably damaging Het
Zp2 C T 7: 119,734,693 (GRCm39) 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
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
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'- CCTGGTTCAGAGACTGTATGTCAGATGA -3'
(R):5'- cccaagcacacacCTGTGCAA -3'

Sequencing Primer
(F):5'- acatttttcttcaggtagcaacag -3'
(R):5'- gcacacacCTGTGCAATCATC -3'
Posted On 2013-06-11