Incidental Mutation 'IGL00983:Pmvk'
ID 27170
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pmvk
Ensembl Gene ENSMUSG00000027952
Gene Name phosphomevalonate kinase
Synonyms 2900002L22Rik, 1110011E12Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # IGL00983
Quality Score
Status
Chromosome 3
Chromosomal Location 89361848-89376320 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89374890 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 96 (W96R)
Ref Sequence ENSEMBL: ENSMUSP00000139116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029564] [ENSMUST00000107410] [ENSMUST00000184515] [ENSMUST00000198440]
AlphaFold Q9D1G2
Predicted Effect probably damaging
Transcript: ENSMUST00000029564
AA Change: W117R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029564
Gene: ENSMUSG00000027952
AA Change: W117R

DomainStartEndE-ValueType
Pfam:P-mevalo_kinase 14 124 1.4e-50 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107410
AA Change: W117R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103033
Gene: ENSMUSG00000027952
AA Change: W117R

DomainStartEndE-ValueType
Pfam:P-mevalo_kinase 14 129 9.3e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000184515
AA Change: W96R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139116
Gene: ENSMUSG00000027952
AA Change: W96R

DomainStartEndE-ValueType
Pfam:P-mevalo_kinase 5 108 3.9e-44 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000198440
AA Change: W42R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000143154
Gene: ENSMUSG00000027952
AA Change: W42R

DomainStartEndE-ValueType
Pfam:P-mevalo_kinase 1 54 5.6e-19 PFAM
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 peroxisomal enzyme that is a member of the galactokinase, homoserine kinase, mevalonate kinase, and phosphomevalonate kinase (GHMP) family of ATP-dependent enzymes. The encoded protein catalyzes the conversion of mevalonate 5-phosphate to mevalonate 5-diphosphate, which is the fifth step in the mevalonate pathway of isoprenoid biosynthesis. Mutations in this gene are linked to certain types of porokeratosis including disseminated superficial porokeratosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810021J22Rik C T 11: 58,771,438 (GRCm39) Q307* probably null Het
Acss3 A T 10: 106,802,825 (GRCm39) C473* probably null Het
Adgrg1 T A 8: 95,731,871 (GRCm39) S178T probably damaging Het
Anxa7 C A 14: 20,508,749 (GRCm39) L386F possibly damaging Het
Calcrl T C 2: 84,200,798 (GRCm39) E82G probably benign Het
Ccr9 C T 9: 123,608,351 (GRCm39) P11L probably benign Het
Cep164 C A 9: 45,686,554 (GRCm39) V887L possibly damaging Het
Dctn6 A G 8: 34,559,747 (GRCm39) L136P probably damaging Het
Dnase1 T C 16: 3,857,417 (GRCm39) V238A possibly damaging Het
Fat1 A G 8: 45,486,427 (GRCm39) Y3304C probably damaging Het
Fbxo31 A T 8: 122,281,069 (GRCm39) V359D possibly damaging Het
Gpr182 A G 10: 127,586,657 (GRCm39) I98T possibly damaging Het
Gspt1 C T 16: 11,048,861 (GRCm39) probably benign Het
Itgam C A 7: 127,667,839 (GRCm39) T70K probably damaging Het
Itpr2 A G 6: 146,212,479 (GRCm39) probably benign Het
Kank3 T A 17: 34,040,791 (GRCm39) M458K probably damaging Het
Kcnd2 A G 6: 21,714,153 (GRCm39) K379E possibly damaging Het
Macf1 C T 4: 123,275,915 (GRCm39) V4206I probably damaging Het
Mdn1 T C 4: 32,735,525 (GRCm39) L3397S probably damaging Het
Msh3 A T 13: 92,436,785 (GRCm39) N508K probably damaging Het
Mttp C A 3: 137,820,890 (GRCm39) probably benign Het
Nme5 G T 18: 34,700,181 (GRCm39) Q155K probably benign Het
Or13p3 A T 4: 118,567,119 (GRCm39) N172Y probably damaging Het
Or2r11 A T 6: 42,437,029 (GRCm39) I308N probably benign Het
Or52b4i T A 7: 102,191,593 (GRCm39) I150N possibly damaging Het
Pfkp A T 13: 6,631,603 (GRCm39) W151R probably damaging Het
Pkd1l1 T A 11: 8,794,585 (GRCm39) T1859S probably benign Het
Prdx6b T A 2: 80,123,539 (GRCm39) M116K probably damaging Het
Ptpro A C 6: 137,395,246 (GRCm39) L876F probably benign Het
Sdcbp G T 4: 6,392,953 (GRCm39) E197* probably null Het
Serpinb1c A T 13: 33,068,207 (GRCm39) S188R possibly damaging Het
Sorcs1 A T 19: 50,164,566 (GRCm39) D988E probably damaging Het
Tmbim1 C A 1: 74,334,422 (GRCm39) G46V probably damaging Het
Ubl4b C T 3: 107,461,756 (GRCm39) G168E unknown Het
Vmn2r91 T C 17: 18,325,820 (GRCm39) F146S probably benign Het
Zdhhc20 T C 14: 58,076,613 (GRCm39) N335D possibly damaging Het
Zzz3 T G 3: 152,161,447 (GRCm39) probably benign Het
Other mutations in Pmvk
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2090:Pmvk UTSW 3 89,369,189 (GRCm39) missense possibly damaging 0.53
R3034:Pmvk UTSW 3 89,375,824 (GRCm39) missense probably damaging 0.99
R5337:Pmvk UTSW 3 89,375,878 (GRCm39) missense probably benign 0.36
R5469:Pmvk UTSW 3 89,374,989 (GRCm39) critical splice donor site probably null
R5842:Pmvk UTSW 3 89,374,927 (GRCm39) missense probably damaging 1.00
R5877:Pmvk UTSW 3 89,371,676 (GRCm39) missense probably benign 0.25
R7657:Pmvk UTSW 3 89,376,158 (GRCm39) missense possibly damaging 0.89
R8207:Pmvk UTSW 3 89,375,899 (GRCm39) missense probably benign 0.00
R9443:Pmvk UTSW 3 89,374,956 (GRCm39) missense probably benign
Posted On 2013-04-17