Incidental Mutation 'R0094:Mvd'
ID 16934
Institutional Source Beutler Lab
Gene Symbol Mvd
Ensembl Gene ENSMUSG00000006517
Gene Name mevalonate (diphospho) decarboxylase
Synonyms
MMRRC Submission 038380-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.945) question?
Stock # R0094 (G1)
Quality Score
Status Validated
Chromosome 8
Chromosomal Location 123160340-123170161 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 123166442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 65 (R65H)
Ref Sequence ENSEMBL: ENSMUSP00000006692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006692] [ENSMUST00000127664] [ENSMUST00000211883]
AlphaFold Q99JF5
PDB Structure Mus Musculus Mevalonate Pyrophosphate Decarboxylase [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000006692
AA Change: R65H

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000006692
Gene: ENSMUSG00000006517
AA Change: R65H

DomainStartEndE-ValueType
low complexity region 85 95 N/A INTRINSIC
Pfam:GHMP_kinases_N 112 167 6.8e-7 PFAM
SCOP:d1fi4a2 195 386 4e-85 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000211883
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 84.5%
  • 3x: 75.9%
  • 10x: 43.5%
  • 20x: 12.9%
Validation Efficiency 86% (51/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The enzyme mevalonate pyrophosphate decarboxylase catalyzes the conversion of mevalonate pyrophosphate into isopentenyl pyrophosphate in one of the early steps in cholesterol biosynthesis. It decarboxylates and dehydrates its substrate while hydrolyzing ATP. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,203,427 (GRCm39) probably benign Het
4930432E11Rik A G 7: 29,260,236 (GRCm39) noncoding transcript Het
4931429L15Rik T A 9: 46,218,184 (GRCm39) T185S possibly damaging Het
Ahnak T A 19: 8,991,257 (GRCm39) D4180E probably benign Het
Amotl1 A G 9: 14,486,683 (GRCm39) S441P probably benign Het
Ankrd12 A T 17: 66,277,171 (GRCm39) D2034E probably damaging Het
B3gnt2 T C 11: 22,786,655 (GRCm39) R178G probably damaging Het
Colgalt1 T C 8: 72,075,802 (GRCm39) V483A probably damaging Het
Ctsj A C 13: 61,151,519 (GRCm39) probably null Het
Dap3 T A 3: 88,834,335 (GRCm39) M294L probably benign Het
Ddias T C 7: 92,509,108 (GRCm39) N269S possibly damaging Het
Dsg2 A T 18: 20,724,910 (GRCm39) T439S probably benign Het
Eif2b1 A G 5: 124,709,829 (GRCm39) F250L probably benign Het
Emc1 T A 4: 139,087,796 (GRCm39) F100Y probably damaging Het
Hfm1 T A 5: 107,065,344 (GRCm39) M112L probably benign Het
Lipg T C 18: 75,078,917 (GRCm39) Y445C probably benign Het
Lrp1b T C 2: 41,172,042 (GRCm39) probably benign Het
Ltbp2 A G 12: 84,846,200 (GRCm39) Y897H probably damaging Het
Mfap5 G A 6: 122,502,951 (GRCm39) V54I probably damaging Het
Mybpc2 A G 7: 44,166,328 (GRCm39) Y221H probably damaging Het
Nbeal1 T A 1: 60,344,468 (GRCm39) I2323N possibly damaging Het
Or14c40 A G 7: 86,313,502 (GRCm39) S211G probably benign Het
Otol1 G A 3: 69,926,016 (GRCm39) A64T probably benign Het
Pcdh8 G T 14: 80,005,588 (GRCm39) D933E probably damaging Het
Pkd1 A G 17: 24,800,250 (GRCm39) T3004A possibly damaging Het
Pkhd1 T A 1: 20,279,470 (GRCm39) R2949S probably damaging Het
Ptpro T C 6: 137,363,350 (GRCm39) Y495H probably benign Het
Rad54b T C 4: 11,599,681 (GRCm39) V72A possibly damaging Het
Ranbp3 A G 17: 57,016,338 (GRCm39) probably benign Het
Rpa2 T C 4: 132,497,893 (GRCm39) S52P probably damaging Het
Serping1 T G 2: 84,603,620 (GRCm39) R140S probably benign Het
Slc34a2 T C 5: 53,221,310 (GRCm39) F252S probably benign Het
Spata45 A G 1: 190,772,059 (GRCm39) probably benign Het
Sptan1 T C 2: 29,896,635 (GRCm39) S1174P probably benign Het
Ss18l2 T C 9: 121,541,699 (GRCm39) L64P probably benign Het
Tmem81 A G 1: 132,435,787 (GRCm39) I198V probably benign Het
Trappc9 A T 15: 72,894,929 (GRCm38) probably benign Het
Ubr3 C T 2: 69,781,706 (GRCm39) T628I probably damaging Het
Zzef1 C T 11: 72,708,791 (GRCm39) T130I probably benign Het
Other mutations in Mvd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01631:Mvd APN 8 123,161,560 (GRCm39) missense possibly damaging 0.88
IGL02170:Mvd APN 8 123,164,747 (GRCm39) missense probably benign 0.03
IGL02381:Mvd APN 8 123,163,894 (GRCm39) missense probably benign 0.01
IGL02589:Mvd APN 8 123,164,773 (GRCm39) splice site probably benign
IGL03372:Mvd APN 8 123,170,113 (GRCm39) utr 5 prime probably benign
R0094:Mvd UTSW 8 123,166,442 (GRCm39) missense probably benign 0.10
R0614:Mvd UTSW 8 123,163,292 (GRCm39) missense probably benign 0.00
R1740:Mvd UTSW 8 123,163,286 (GRCm39) missense probably benign 0.00
R8881:Mvd UTSW 8 123,164,564 (GRCm39) critical splice donor site probably null
Z1088:Mvd UTSW 8 123,166,469 (GRCm39) missense probably benign 0.44
Posted On 2013-01-20