Incidental Mutation 'IGL02735:Mvk'
ID305640
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mvk
Ensembl Gene ENSMUSG00000041939
Gene Namemevalonate kinase
Synonyms2310010A05Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02735
Quality Score
Status
Chromosome5
Chromosomal Location114444269-114460591 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 114450819 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 174 (E174G)
Ref Sequence ENSEMBL: ENSMUSP00000114611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043760] [ENSMUST00000112239] [ENSMUST00000124260] [ENSMUST00000125650] [ENSMUST00000137167] [ENSMUST00000139420]
Predicted Effect probably benign
Transcript: ENSMUST00000043760
AA Change: E162G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000036971
Gene: ENSMUSG00000041939
AA Change: E162G

DomainStartEndE-ValueType
low complexity region 108 118 N/A INTRINSIC
Pfam:GHMP_kinases_N 130 212 7.6e-26 PFAM
Pfam:GHMP_kinases_C 291 365 2.1e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112239
AA Change: E174G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107858
Gene: ENSMUSG00000041939
AA Change: E174G

DomainStartEndE-ValueType
low complexity region 120 130 N/A INTRINSIC
Pfam:GHMP_kinases_N 142 224 1.6e-25 PFAM
Pfam:GHMP_kinases_C 303 377 8.2e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124260
AA Change: E174G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000143347
Gene: ENSMUSG00000041939
AA Change: E174G

DomainStartEndE-ValueType
low complexity region 120 130 N/A INTRINSIC
Pfam:GHMP_kinases_N 142 224 5.9e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125120
Predicted Effect probably benign
Transcript: ENSMUST00000125650
AA Change: E174G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000114611
Gene: ENSMUSG00000041939
AA Change: E174G

DomainStartEndE-ValueType
low complexity region 120 130 N/A INTRINSIC
Pfam:GHMP_kinases_N 142 224 1.3e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137167
AA Change: E162G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000142758
Gene: ENSMUSG00000041939
AA Change: E162G

DomainStartEndE-ValueType
low complexity region 108 118 N/A INTRINSIC
Pfam:GHMP_kinases_N 130 212 5.2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139420
SMART Domains Protein: ENSMUSP00000142376
Gene: ENSMUSG00000041939

DomainStartEndE-ValueType
PDB:2R42|A 1 62 6e-30 PDB
SCOP:d1kvka1 2 31 1e-10 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes mevalonate kinase, a key enzyme involved in the biosynthesis of cholesterol and non-sterol isoprenes. The complete lack of encoded protein is lethal to mouse embryos. Mice lacking one allele of this gene exhibit increased levels of mevalonate in spleen, heart and kidney, as well as increased levels of serum immunoglobulins A and D. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,229,377 S404P probably damaging Het
A930011G23Rik G A 5: 99,229,382 P402L probably damaging Het
Acss1 A T 2: 150,638,467 V228E probably damaging Het
Ampd1 T A 3: 103,085,377 M145K probably damaging Het
Ankhd1 G A 18: 36,648,546 S2217N probably benign Het
Asph T A 4: 9,598,759 D211V probably damaging Het
C87414 G A 5: 93,638,644 P89S possibly damaging Het
Cd55b A T 1: 130,388,676 W379R probably damaging Het
Derl3 A G 10: 75,895,116 T201A probably damaging Het
Efcab6 A G 15: 83,899,697 L1008P probably damaging Het
Eif4g3 A G 4: 138,126,211 I363V probably benign Het
Heatr5a A G 12: 51,915,021 F1058L probably damaging Het
Hmcn1 A T 1: 150,646,832 M3439K probably benign Het
Ift140 C A 17: 25,034,035 probably benign Het
Itgad A G 7: 128,193,716 Y832C probably damaging Het
Itgb2 T A 10: 77,549,999 D265E possibly damaging Het
Kif19a A T 11: 114,785,567 E449V probably damaging Het
Krt40 T C 11: 99,538,635 E291G probably damaging Het
Lama2 T C 10: 27,104,128 N1897S probably damaging Het
Lepr A G 4: 101,782,638 Y767C probably damaging Het
Lrrtm4 A G 6: 80,809,050 H546R probably benign Het
March6 A G 15: 31,486,120 S362P probably benign Het
Med12l A G 3: 59,093,646 Y734C probably damaging Het
Mrps18a C T 17: 46,122,799 R74C probably damaging Het
Naip2 A G 13: 100,160,214 S1105P probably damaging Het
Nrxn3 A G 12: 89,254,854 M468V probably benign Het
Obscn T C 11: 59,093,349 E1760G probably damaging Het
Pcsk5 C A 19: 17,675,468 G285W probably damaging Het
Pgpep1l A G 7: 68,236,973 I196T probably benign Het
Phf14 T C 6: 11,987,612 M630T probably benign Het
Plod2 T C 9: 92,595,389 probably benign Het
Poldip2 G A 11: 78,512,336 A9T probably benign Het
Pou2f1 A G 1: 165,875,827 S718P probably damaging Het
Ptpre A T 7: 135,667,567 Y246F probably damaging Het
Pudp T C 18: 50,568,332 H110R probably benign Het
Scaf4 C T 16: 90,245,515 G646E unknown Het
Sec16a T A 2: 26,428,137 probably benign Het
Serpina5 A G 12: 104,103,857 T338A probably benign Het
Shisa5 T G 9: 109,056,012 F118V probably damaging Het
Slc6a21 G A 7: 45,286,637 probably benign Het
Sprtn T A 8: 124,903,387 V473E probably benign Het
Styxl1 A G 5: 135,759,142 I165T probably damaging Het
Tal2 T A 4: 53,785,906 I29N probably damaging Het
Tas2r134 T C 2: 51,627,827 I106T probably damaging Het
Tmem259 G A 10: 79,979,139 T217I probably damaging Het
Trpc6 T C 9: 8,655,338 I723T probably damaging Het
Vmn1r211 A T 13: 22,852,248 V83D probably damaging Het
Vmn2r103 G T 17: 19,812,248 M761I probably benign Het
Ybey A T 10: 76,468,326 I14N probably damaging Het
Other mutations in Mvk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Mvk APN 5 114445441 missense probably benign 0.00
IGL01615:Mvk APN 5 114446292 missense probably benign 0.41
R0206:Mvk UTSW 5 114458974 missense probably damaging 1.00
R1474:Mvk UTSW 5 114460096 missense probably damaging 0.99
R2511:Mvk UTSW 5 114450398 nonsense probably null
R4377:Mvk UTSW 5 114452961 intron probably benign
R4861:Mvk UTSW 5 114460197 intron probably benign
R4902:Mvk UTSW 5 114455999 missense probably benign 0.05
R5073:Mvk UTSW 5 114452952 intron probably benign
R5355:Mvk UTSW 5 114452438 missense probably damaging 1.00
R5411:Mvk UTSW 5 114458973 missense probably benign 0.00
R5637:Mvk UTSW 5 114455942 missense possibly damaging 0.47
R5687:Mvk UTSW 5 114450765 missense probably damaging 1.00
R6778:Mvk UTSW 5 114452380 missense probably benign 0.01
R7402:Mvk UTSW 5 114455978 missense possibly damaging 0.79
Z1088:Mvk UTSW 5 114458934 missense probably damaging 1.00
Posted On2015-04-16