Incidental Mutation 'R4214:Mmadhc'
ID 319330
Institutional Source Beutler Lab
Gene Symbol Mmadhc
Ensembl Gene ENSMUSG00000026766
Gene Name methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
Synonyms 2010311D03Rik
MMRRC Submission 041041-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.430) question?
Stock # R4214 (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 50181344 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 109 (T109A)
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: T109A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099830
Gene: ENSMUSG00000026766
AA Change: T109A

DomainStartEndE-ValueType
Pfam:DUF2246 24 294 8.5e-134 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133768
AA Change: T109A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115961
Gene: ENSMUSG00000026766
AA Change: T109A

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: T109A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122804
Gene: ENSMUSG00000026766
AA Change: T109A

DomainStartEndE-ValueType
Pfam:DUF2246 20 219 1.5e-84 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147345
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154254
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152948
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.5%
Validation Efficiency 98% (64/65)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730013G03Rik C T 1: 192,515,845 (GRCm39) noncoding transcript Het
Abca12 T A 1: 71,327,856 (GRCm39) D1408V probably damaging Het
Abca13 A T 11: 9,243,877 (GRCm39) L1913F probably damaging Het
Acad9 A G 3: 36,127,752 (GRCm39) E118G probably damaging Het
Adamts5 G A 16: 85,665,531 (GRCm39) A590V probably damaging Het
Ano6 A C 15: 95,863,790 (GRCm39) Y791S probably benign Het
Aox1 T C 1: 58,346,603 (GRCm39) probably null Het
Aox4 T A 1: 58,261,051 (GRCm39) I128N probably damaging Het
Atp2b3 A G X: 72,613,921 (GRCm39) M1142V probably benign Het
AU041133 A G 10: 81,987,223 (GRCm39) H292R probably damaging Het
Bco2 A G 9: 50,456,666 (GRCm39) M158T probably benign Het
Bpnt1 T A 1: 185,077,626 (GRCm39) probably benign Het
Cadm1 A G 9: 47,708,741 (GRCm39) D157G probably damaging Het
Catsperg1 T C 7: 28,895,357 (GRCm39) R499G possibly damaging Het
Ccr7 T C 11: 99,035,872 (GRCm39) E350G probably damaging Het
Ceacam5 T A 7: 17,486,076 (GRCm39) S524R probably benign Het
Cep78 T C 19: 15,936,943 (GRCm39) T588A probably benign Het
Cfap65 T A 1: 74,966,840 (GRCm39) E282D possibly damaging Het
Drd2 A G 9: 49,316,221 (GRCm39) K327R probably benign Het
Erich5 C T 15: 34,471,557 (GRCm39) P262L possibly damaging Het
Ezh2 A C 6: 47,510,748 (GRCm39) D578E probably damaging Het
Fez1 A G 9: 36,781,784 (GRCm39) N20S probably damaging Het
Folr2 T G 7: 101,492,906 (GRCm39) K39T probably damaging Het
Gm10549 G T 18: 33,597,530 (GRCm39) probably null Het
Gm14393 C T 2: 174,903,640 (GRCm39) C89Y probably benign Het
Gm5329 T G 7: 31,671,828 (GRCm39) noncoding transcript Het
Gm7367 A G 7: 59,805,517 (GRCm39) noncoding transcript Het
Gpr162 A T 6: 124,837,031 (GRCm39) W338R probably damaging Het
Ift80 A T 3: 68,898,141 (GRCm39) F65I possibly damaging Het
Klra6 T G 6: 129,995,885 (GRCm39) I158L probably benign Het
Lpp T A 16: 24,580,804 (GRCm39) Y173* probably null Het
Lrp12 A G 15: 39,735,976 (GRCm39) V671A probably benign Het
Lrrc27 C T 7: 138,803,609 (GRCm39) R178C probably damaging Het
Lrrc49 G A 9: 60,573,609 (GRCm39) T225M probably benign Het
Megf8 T A 7: 25,054,793 (GRCm39) S1915T probably benign Het
Mon2 T C 10: 122,852,397 (GRCm39) E992G probably benign Het
Msl3 A G X: 167,450,059 (GRCm39) I267T probably damaging Het
Msl3 A T X: 167,445,430 (GRCm39) N430K probably damaging Het
Nab2 G T 10: 127,500,917 (GRCm39) Y25* probably null Het
Notch3 T C 17: 32,351,181 (GRCm39) E1938G possibly damaging Het
Or5ae2 C T 7: 84,506,497 (GRCm39) H307Y probably benign Het
Osgepl1 A G 1: 53,354,167 (GRCm39) T44A probably damaging Het
Pdpr A G 8: 111,856,212 (GRCm39) probably benign Het
Pfkp A G 13: 6,669,261 (GRCm39) S241P probably damaging Het
Phgdh A T 3: 98,235,377 (GRCm39) S166T possibly damaging Het
Plcl1 C T 1: 55,790,494 (GRCm39) Q1055* probably null Het
Plscr2 A G 9: 92,169,790 (GRCm39) N80S probably benign Het
Polr3k A T 2: 181,510,035 (GRCm39) M80L probably benign Het
Prex2 A G 1: 11,171,383 (GRCm39) D304G probably damaging Het
Prex2 A G 1: 11,355,285 (GRCm39) T1529A probably damaging Het
Rcvrn A T 11: 67,586,514 (GRCm39) H91L possibly damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Tbx18 T C 9: 87,606,518 (GRCm39) Y209C probably damaging Het
Themis3 T C 17: 66,867,012 (GRCm39) N76S probably benign Het
Trhde A T 10: 114,623,975 (GRCm39) S310T possibly damaging Het
Vmn1r213 G A 13: 23,196,173 (GRCm39) C252Y possibly damaging Het
Zfp523 T C 17: 28,420,003 (GRCm39) V216A 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
R4092:Mmadhc UTSW 2 50,177,895 (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'- TCTGGAGTAAGCAGTCAGTAGG -3'
(R):5'- TCGAACAGTGTGGCCTGATG -3'

Sequencing Primer
(F):5'- CTTAAGCATGTAAACCGGATGG -3'
(R):5'- TGAAACTATGGGACCCTTTGGACC -3'
Posted On 2015-06-10