Incidental Mutation 'R8240:Mcee'
ID 640911
Institutional Source Beutler Lab
Gene Symbol Mcee
Ensembl Gene ENSMUSG00000033429
Gene Name methylmalonyl CoA epimerase
Synonyms 1110007A04Rik
MMRRC Submission 067671-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R8240 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 64042370-64061869 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 64061665 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 156 (H156R)
Ref Sequence ENSEMBL: ENSMUSP00000047855 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037205] [ENSMUST00000206194] [ENSMUST00000206882]
AlphaFold Q9D1I5
Predicted Effect possibly damaging
Transcript: ENSMUST00000037205
AA Change: H156R

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000047855
Gene: ENSMUSG00000033429
AA Change: H156R

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 probably damaging
Transcript: ENSMUST00000206194
AA Change: H102R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206882
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610524H06Rik A T 5: 114,961,472 (GRCm39) V12E probably benign Het
Ahnak2 A G 12: 112,741,082 (GRCm39) F997L probably benign Het
Baiap3 A T 17: 25,464,288 (GRCm39) probably null Het
Cct6b A G 11: 82,614,650 (GRCm39) I446T probably damaging Het
Cfap206 A G 4: 34,728,902 (GRCm39) M1T probably null Het
Clca4a T C 3: 144,676,488 (GRCm39) Y64C probably damaging Het
Col24a1 A T 3: 145,213,457 (GRCm39) Q1354L probably benign Het
Coro7 A G 16: 4,486,660 (GRCm39) V171A probably damaging Het
Cyp3a44 G A 5: 145,725,257 (GRCm39) L315F probably damaging Het
Frem1 T A 4: 82,874,485 (GRCm39) D1379V probably benign Het
Gstm6 T A 3: 107,849,453 (GRCm39) D119V probably damaging Het
Hcn1 ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC 13: 118,112,269 (GRCm39) probably benign Het
Hibch T A 1: 52,940,494 (GRCm39) probably null Het
Il1rap G A 16: 26,520,001 (GRCm39) E356K probably benign Het
Itm2c G T 1: 85,822,457 (GRCm39) G25C probably benign Het
Klhl8 C T 5: 104,015,392 (GRCm39) V511I probably damaging Het
Myh3 C A 11: 66,983,196 (GRCm39) Q908K probably benign Het
Ncoa7 A G 10: 30,567,725 (GRCm39) S318P probably benign Het
Nhsl1 A G 10: 18,402,487 (GRCm39) N1208D probably benign Het
Or10p21 T A 10: 128,847,766 (GRCm39) I204K possibly damaging Het
Or4a15 C T 2: 89,192,896 (GRCm39) M292I probably benign Het
P2rx7 C T 5: 122,793,096 (GRCm39) P140S probably damaging Het
Plcd4 C G 1: 74,593,660 (GRCm39) H262D probably benign Het
Prps1l1 T C 12: 35,035,140 (GRCm39) V85A probably damaging Het
Prss27 G A 17: 24,263,919 (GRCm39) V202I probably benign Het
Rtn4r A T 16: 17,969,258 (GRCm39) M229L probably benign Het
Slc43a1 A G 2: 84,690,167 (GRCm39) H491R possibly damaging Het
Slc44a2 A G 9: 21,253,481 (GRCm39) D83G probably benign Het
Spag6l A G 16: 16,580,889 (GRCm39) V486A probably damaging Het
Sspo A T 6: 48,460,436 (GRCm39) Q3408L possibly damaging Het
Tasor2 T C 13: 3,624,388 (GRCm39) D1854G probably benign Het
Tjp3 G A 10: 81,109,641 (GRCm39) T854I probably benign Het
Tmsb10b A C 7: 24,561,805 (GRCm39) I35L probably benign Het
Trim30a C T 7: 104,070,663 (GRCm39) G250D probably benign Het
Ttll1 G T 15: 83,376,783 (GRCm39) D313E probably damaging Het
Zfp160 A T 17: 21,246,350 (GRCm39) N300I probably damaging Het
Zfp458 C T 13: 67,406,190 (GRCm39) C83Y probably damaging Het
Zmym4 A T 4: 126,798,188 (GRCm39) probably null Het
Other mutations in Mcee
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01289:Mcee APN 7 64,050,066 (GRCm39) missense probably damaging 0.96
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
R8299:Mcee UTSW 7 64,061,621 (GRCm39) missense unknown
R9644:Mcee UTSW 7 64,061,730 (GRCm39) missense possibly damaging 0.56
Predicted Primers PCR Primer
(F):5'- ATAGTCCTGTCCAAAGGCAGAG -3'
(R):5'- CTCACTAGACTAGATCCTGGAGAAG -3'

Sequencing Primer
(F):5'- TCCTGTCCAAAGGCAGAGGAAAC -3'
(R):5'- AGGATATGGGAGATCTGTCTGAG -3'
Posted On 2020-07-28