Incidental Mutation 'IGL01289:Mcee'
ID 72853
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mcee
Ensembl Gene ENSMUSG00000033429
Gene Name methylmalonyl CoA epimerase
Synonyms 1110007A04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # IGL01289
Quality Score
Status
Chromosome 7
Chromosomal Location 64042370-64061869 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 64050066 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 66 (F66I)
Ref Sequence ENSEMBL: ENSMUSP00000146220 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037205] [ENSMUST00000206194] [ENSMUST00000206882]
AlphaFold Q9D1I5
Predicted Effect probably benign
Transcript: ENSMUST00000037205
AA Change: F66I

PolyPhen 2 Score 0.266 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000047855
Gene: ENSMUSG00000033429
AA Change: F66I

DomainStartEndE-ValueType
low complexity region 7 17 N/A INTRINSIC
Pfam:Glyoxalase 49 175 2.7e-14 PFAM
Pfam:Glyoxalase_3 50 166 5.1e-9 PFAM
Pfam:Glyoxalase_4 51 162 1.2e-20 PFAM
Pfam:Glyoxalase_2 55 175 1.9e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206138
Predicted Effect probably damaging
Transcript: ENSMUST00000206194
AA Change: F66I

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000206882
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene catalyzes the interconversion of D- and L-methylmalonyl-CoA during the degradation of branched chain amino acids. odd chain-length fatty acids, and other metabolites. Mutations in this gene result in methylmalonyl-CoA epimerase deficiency, which is presented as mild to moderate methylmalonic aciduria. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T A 7: 130,740,350 (GRCm39) M289L probably benign Het
Actg2 A T 6: 83,500,157 (GRCm39) M38K probably damaging Het
Atp8a2 G A 14: 59,928,910 (GRCm39) A1048V probably benign Het
Cables1 T C 18: 12,077,621 (GRCm39) V583A probably damaging Het
Ccng2 A G 5: 93,421,276 (GRCm39) K262R probably null Het
Cfap206 C A 4: 34,716,469 (GRCm39) S332I probably null Het
Dscam A T 16: 96,445,082 (GRCm39) Y1536* probably null Het
Fam136b-ps T A 15: 31,277,010 (GRCm39) probably benign Het
Fga A G 3: 82,938,552 (GRCm39) Y309C possibly damaging Het
Fgd4 A T 16: 16,302,167 (GRCm39) N129K probably damaging Het
Gbp8 G A 5: 105,165,735 (GRCm39) A306V probably benign Het
Hecw1 T C 13: 14,438,719 (GRCm39) Y888C probably damaging Het
Herc6 G A 6: 57,575,608 (GRCm39) G210R probably damaging Het
Ints7 G A 1: 191,347,890 (GRCm39) R754H probably benign Het
Itga1 T C 13: 115,122,762 (GRCm39) I731M possibly damaging Het
Itpr2 T A 6: 146,014,033 (GRCm39) K2588* probably null Het
Itpr3 T A 17: 27,318,739 (GRCm39) M965K probably damaging Het
Kif22 A G 7: 126,632,645 (GRCm39) V247A probably damaging Het
Lrrc17 T C 5: 21,765,899 (GRCm39) F127S probably damaging Het
Lrriq4 T A 3: 30,704,542 (GRCm39) L190Q probably damaging Het
Med23 T C 10: 24,778,019 (GRCm39) F789S probably damaging Het
Nmd3 T G 3: 69,631,620 (GRCm39) S25R possibly damaging Het
Npy5r T A 8: 67,134,518 (GRCm39) N92Y possibly damaging Het
Or4a69 A G 2: 89,313,191 (GRCm39) M96T probably benign Het
Rnf224 G T 2: 25,126,259 (GRCm39) D31E possibly damaging Het
Timd2 T C 11: 46,570,499 (GRCm39) E192G probably benign Het
Ttll13 T A 7: 79,910,187 (GRCm39) C777S probably benign Het
Tubgcp3 A G 8: 12,689,625 (GRCm39) L547P probably damaging Het
Usp47 G T 7: 111,662,565 (GRCm39) V236F probably damaging Het
Xirp2 A T 2: 67,343,525 (GRCm39) N1922I probably damaging Het
Zdhhc24 G T 19: 4,928,850 (GRCm39) W25L probably damaging Het
Other mutations in Mcee
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1809:Mcee UTSW 7 64,050,049 (GRCm39) missense probably damaging 1.00
R4345:Mcee UTSW 7 64,061,686 (GRCm39) missense probably damaging 1.00
R6124:Mcee UTSW 7 64,050,023 (GRCm39) missense probably damaging 1.00
R7070:Mcee UTSW 7 64,050,078 (GRCm39) missense possibly damaging 0.55
R7380:Mcee UTSW 7 64,061,657 (GRCm39) missense possibly damaging 0.70
R7640:Mcee UTSW 7 64,061,716 (GRCm39) missense probably damaging 1.00
R8240:Mcee UTSW 7 64,061,665 (GRCm39) missense possibly damaging 0.94
R8299:Mcee UTSW 7 64,061,621 (GRCm39) missense unknown
R9644:Mcee UTSW 7 64,061,730 (GRCm39) missense possibly damaging 0.56
Posted On 2013-10-07