Incidental Mutation 'IGL00417:Mmadhc'
ID7217
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mmadhc
Ensembl Gene ENSMUSG00000026766
Gene Namemethylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
Synonyms2010311D03Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.519) question?
Stock #IGL00417
Quality Score
Status
Chromosome2
Chromosomal Location50279881-50296801 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 50289031 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 125 (D125G)
Ref Sequence ENSEMBL: ENSMUSP00000122804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102769] [ENSMUST00000133768] [ENSMUST00000144143]
Predicted Effect probably benign
Transcript: ENSMUST00000102769
AA Change: D125G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099830
Gene: ENSMUSG00000026766
AA Change: D125G

DomainStartEndE-ValueType
Pfam:DUF2246 24 294 8.5e-134 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133768
AA Change: D125G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115961
Gene: ENSMUSG00000026766
AA Change: D125G

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: D125G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122804
Gene: ENSMUSG00000026766
AA Change: D125G

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
Coding Region Coverage
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,423,759 I39M probably benign Het
Acoxl G A 2: 127,978,804 C92Y probably damaging Het
Actl6b G T 5: 137,554,637 R76L probably damaging Het
Ank T C 15: 27,544,351 M66T possibly damaging Het
C6 C T 15: 4,759,967 A298V possibly damaging Het
Clip4 A T 17: 71,849,942 N591Y probably damaging Het
Cntnap5b T C 1: 100,050,754 I165T probably damaging Het
Dennd1b G A 1: 139,062,940 R214H probably damaging Het
Eri2 G A 7: 119,787,741 T185I probably benign Het
Fbxo33 A G 12: 59,202,670 V476A probably damaging Het
Fer1l4 G A 2: 156,019,920 R1826* probably null Het
Fyb A T 15: 6,580,777 K277I probably damaging Het
Gli3 C A 13: 15,644,299 H229N probably damaging Het
Hmcn1 T C 1: 150,677,278 I2554V probably benign Het
Maml2 A T 9: 13,621,604 probably benign Het
Map4k4 T C 1: 40,014,532 F930L possibly damaging Het
Nipbl A G 15: 8,366,673 S139P probably damaging Het
Obscn A G 11: 59,006,788 L6647P unknown Het
Ppara C A 15: 85,801,067 H406N probably benign Het
Psg27 T A 7: 18,561,917 H201L probably benign Het
Qser1 A T 2: 104,786,903 I1188N probably damaging Het
Rc3h1 T C 1: 160,955,981 probably null Het
Sept2 C T 1: 93,499,142 H158Y probably damaging Het
Snx9 C A 17: 5,891,897 Q100K probably benign Het
Spata5 A G 3: 37,451,802 I677V possibly damaging Het
Thnsl2 G A 6: 71,131,900 T309I probably damaging Het
Thsd7b A G 1: 129,595,834 R125G probably damaging Het
Tmem62 T G 2: 121,006,964 probably null Het
Tnpo3 A T 6: 29,578,461 probably null Het
Trpc6 A T 9: 8,680,438 D889V probably damaging Het
Tubgcp6 C A 15: 89,104,008 V913L probably benign Het
Uox A T 3: 146,627,810 M255L probably benign Het
Other mutations in Mmadhc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01732:Mmadhc APN 2 50281185 missense probably damaging 1.00
IGL02397:Mmadhc APN 2 50288980 missense possibly damaging 0.82
R0091:Mmadhc UTSW 2 50292857 missense probably damaging 1.00
R0458:Mmadhc UTSW 2 50281161 missense probably benign 0.01
R0573:Mmadhc UTSW 2 50292835 missense possibly damaging 0.79
R1613:Mmadhc UTSW 2 50280326 missense probably damaging 1.00
R2189:Mmadhc UTSW 2 50288946 missense probably damaging 1.00
R4092:Mmadhc UTSW 2 50287883 missense probably benign
R4214:Mmadhc UTSW 2 50291332 missense probably benign
R4498:Mmadhc UTSW 2 50280224 missense probably benign 0.25
R5355:Mmadhc UTSW 2 50291424 missense probably benign 0.18
R5961:Mmadhc UTSW 2 50291409 missense probably damaging 1.00
R7343:Mmadhc UTSW 2 50291445 missense probably damaging 1.00
X0018:Mmadhc UTSW 2 50287917 missense probably benign 0.02
Posted On2012-04-20