Incidental Mutation 'IGL00983:Pmvk'
ID27170
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pmvk
Ensembl Gene ENSMUSG00000027952
Gene Namephosphomevalonate kinase
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.935) question?
Stock #IGL00983
Quality Score
Status
Chromosome3
Chromosomal Location89454541-89469013 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89467583 bp
ZygosityHeterozygous
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]
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: 58,880,612 Q307* probably null Het
Acss3 A T 10: 106,966,964 C473* probably null Het
Adgrg1 T A 8: 95,005,243 S178T probably damaging Het
Anxa7 C A 14: 20,458,681 L386F possibly damaging Het
Calcrl T C 2: 84,370,454 E82G probably benign Het
Ccr9 C T 9: 123,779,286 P11L probably benign Het
Cep164 C A 9: 45,775,256 V887L possibly damaging Het
Dctn6 A G 8: 34,092,593 L136P probably damaging Het
Dnase1 T C 16: 4,039,553 V238A possibly damaging Het
Fat1 A G 8: 45,033,390 Y3304C probably damaging Het
Fbxo31 A T 8: 121,554,330 V359D possibly damaging Het
Gpr182 A G 10: 127,750,788 I98T possibly damaging Het
Gspt1 C T 16: 11,230,997 probably benign Het
Itgam C A 7: 128,068,667 T70K probably damaging Het
Itpr2 A G 6: 146,310,981 probably benign Het
Kank3 T A 17: 33,821,817 M458K probably damaging Het
Kcnd2 A G 6: 21,714,154 K379E possibly damaging Het
Macf1 C T 4: 123,382,122 V4206I probably damaging Het
Mdn1 T C 4: 32,735,525 L3397S probably damaging Het
Msh3 A T 13: 92,300,277 N508K probably damaging Het
Mttp C A 3: 138,115,129 probably benign Het
Nme5 G T 18: 34,567,128 Q155K probably benign Het
Olfr1341 A T 4: 118,709,922 N172Y probably damaging Het
Olfr458 A T 6: 42,460,095 I308N probably benign Het
Olfr548-ps1 T A 7: 102,542,386 I150N possibly damaging Het
Pfkp A T 13: 6,581,567 W151R probably damaging Het
Pkd1l1 T A 11: 8,844,585 T1859S probably benign Het
Prdx6b T A 2: 80,293,195 M116K probably damaging Het
Ptpro A C 6: 137,418,248 L876F probably benign Het
Sdcbp G T 4: 6,392,953 E197* probably null Het
Serpinb1c A T 13: 32,884,224 S188R possibly damaging Het
Sorcs1 A T 19: 50,176,128 D988E probably damaging Het
Tmbim1 C A 1: 74,295,263 G46V probably damaging Het
Ubl4b C T 3: 107,554,440 G168E unknown Het
Vmn2r91 T C 17: 18,105,558 F146S probably benign Het
Zdhhc20 T C 14: 57,839,156 N335D possibly damaging Het
Zzz3 T G 3: 152,455,810 probably benign Het
Other mutations in Pmvk
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2090:Pmvk UTSW 3 89461882 missense possibly damaging 0.53
R3034:Pmvk UTSW 3 89468517 missense probably damaging 0.99
R5337:Pmvk UTSW 3 89468571 missense probably benign 0.36
R5469:Pmvk UTSW 3 89467682 critical splice donor site probably null
R5842:Pmvk UTSW 3 89467620 missense probably damaging 1.00
R5877:Pmvk UTSW 3 89464369 missense probably benign 0.25
R7657:Pmvk UTSW 3 89468851 missense possibly damaging 0.89
Posted On2013-04-17