Incidental Mutation 'IGL01289:Mcee'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mcee
Ensembl Gene ENSMUSG00000033429
Gene Namemethylmalonyl CoA epimerase
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.089) question?
Stock #IGL01289
Quality Score
Chromosomal Location64392607-64412125 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 64400318 bp
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]
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

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: 131,138,621 M289L probably benign Het
Actg2 A T 6: 83,523,175 M38K probably damaging Het
Atp8a2 G A 14: 59,691,461 A1048V probably benign Het
Cables1 T C 18: 11,944,564 V583A probably damaging Het
Ccng2 A G 5: 93,273,417 K262R probably null Het
Cfap206 C A 4: 34,716,469 S332I probably null Het
Dscam A T 16: 96,643,882 Y1536* probably null Het
Fam136b-ps T A 15: 31,276,864 probably benign Het
Fga A G 3: 83,031,245 Y309C possibly damaging Het
Fgd4 A T 16: 16,484,303 N129K probably damaging Het
Gbp8 G A 5: 105,017,869 A306V probably benign Het
Hecw1 T C 13: 14,264,134 Y888C probably damaging Het
Herc6 G A 6: 57,598,623 G210R probably damaging Het
Ints7 G A 1: 191,615,778 R754H probably benign Het
Itga1 T C 13: 114,986,226 I731M possibly damaging Het
Itpr2 T A 6: 146,112,535 K2588* probably null Het
Itpr3 T A 17: 27,099,765 M965K probably damaging Het
Kif22 A G 7: 127,033,473 V247A probably damaging Het
Lrrc17 T C 5: 21,560,901 F127S probably damaging Het
Lrriq4 T A 3: 30,650,393 L190Q probably damaging Het
Med23 T C 10: 24,902,121 F789S probably damaging Het
Nmd3 T G 3: 69,724,287 S25R possibly damaging Het
Npy5r T A 8: 66,681,866 N92Y possibly damaging Het
Olfr1241 A G 2: 89,482,847 M96T probably benign Het
Rnf224 G T 2: 25,236,247 D31E possibly damaging Het
Timd2 T C 11: 46,679,672 E192G probably benign Het
Ttll13 T A 7: 80,260,439 C777S probably benign Het
Tubgcp3 A G 8: 12,639,625 L547P probably damaging Het
Usp47 G T 7: 112,063,358 V236F probably damaging Het
Xirp2 A T 2: 67,513,181 N1922I probably damaging Het
Zdhhc24 G T 19: 4,878,822 W25L probably damaging Het
Other mutations in Mcee
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1809:Mcee UTSW 7 64400301 missense probably damaging 1.00
R4345:Mcee UTSW 7 64411938 missense probably damaging 1.00
R6124:Mcee UTSW 7 64400275 missense probably damaging 1.00
R7070:Mcee UTSW 7 64400330 missense possibly damaging 0.55
R7380:Mcee UTSW 7 64411909 missense possibly damaging 0.70
R7640:Mcee UTSW 7 64411968 missense probably damaging 1.00
R8240:Mcee UTSW 7 64411917 missense possibly damaging 0.94
R8299:Mcee UTSW 7 64411873 missense unknown
Posted On2013-10-07