Incidental Mutation 'R5687:Mvk'
ID 443420
Institutional Source Beutler Lab
Gene Symbol Mvk
Ensembl Gene ENSMUSG00000041939
Gene Name mevalonate kinase
Synonyms 2310010A05Rik
MMRRC Submission 043320-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5687 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 114582330-114598652 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 114588826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Valine at position 144 (G144V)
Ref Sequence ENSEMBL: ENSMUSP00000142758 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043760] [ENSMUST00000112239] [ENSMUST00000124260] [ENSMUST00000125650] [ENSMUST00000137167] [ENSMUST00000139420]
AlphaFold Q9R008
Predicted Effect probably damaging
Transcript: ENSMUST00000043760
AA Change: G144V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000036971
Gene: ENSMUSG00000041939
AA Change: G144V

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 damaging
Transcript: ENSMUST00000112239
AA Change: G156V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107858
Gene: ENSMUSG00000041939
AA Change: G156V

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 damaging
Transcript: ENSMUST00000124260
AA Change: G156V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000143347
Gene: ENSMUSG00000041939
AA Change: G156V

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 damaging
Transcript: ENSMUST00000125650
AA Change: G156V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114611
Gene: ENSMUSG00000041939
AA Change: G156V

DomainStartEndE-ValueType
low complexity region 120 130 N/A INTRINSIC
Pfam:GHMP_kinases_N 142 224 1.3e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000137167
AA Change: G144V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000142758
Gene: ENSMUSG00000041939
AA Change: G144V

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
Meta Mutation Damage Score 0.9753 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (72/73)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 T A 15: 94,223,852 (GRCm39) D1292V probably benign Het
Adcy2 A T 13: 68,768,938 (GRCm39) C1063* probably null Het
Adcy2 A T 13: 68,790,688 (GRCm39) V892D probably damaging Het
Agtpbp1 T C 13: 59,648,329 (GRCm39) D497G probably benign Het
Anks1b A C 10: 90,750,573 (GRCm39) I195L probably benign Het
Asmt G T X: 169,111,749 (GRCm39) S377I unknown Het
C1s1 T A 6: 124,517,909 (GRCm39) T24S probably benign Het
Ccdc85a A T 11: 28,342,854 (GRCm39) probably benign Het
Ccndbp1 T C 2: 120,845,183 (GRCm39) probably benign Het
Cct8 T C 16: 87,285,709 (GRCm39) I250V probably benign Het
Cmya5 T C 13: 93,234,684 (GRCm39) T135A possibly damaging Het
Col11a1 T C 3: 114,010,752 (GRCm39) probably benign Het
Crybg3 A G 16: 59,379,529 (GRCm39) M575T probably benign Het
Dmp1 C T 5: 104,354,952 (GRCm39) probably benign Het
Emc1 G T 4: 139,102,691 (GRCm39) R950L probably damaging Het
Enpep T C 3: 129,092,743 (GRCm39) probably null Het
Eya1 G A 1: 14,253,476 (GRCm39) T500I probably damaging Het
Fam169a T C 13: 97,230,126 (GRCm39) F54L probably damaging Het
Fbxo8 A G 8: 57,044,552 (GRCm39) K285R probably damaging Het
Galnt1 A T 18: 24,405,807 (GRCm39) E416D probably benign Het
Gcc1 T A 6: 28,419,232 (GRCm39) probably null Het
Gm10800 T A 2: 98,496,965 (GRCm39) Y196F probably benign Het
Gmpr T A 13: 45,692,496 (GRCm39) probably null Het
Jrkl C T 9: 13,244,387 (GRCm39) E425K probably benign Het
Kl T G 5: 150,911,931 (GRCm39) I560S possibly damaging Het
Kyat3 C A 3: 142,440,343 (GRCm39) R356S probably null Het
Lrig2 C T 3: 104,371,388 (GRCm39) probably null Het
Lrrc47 A G 4: 154,100,140 (GRCm39) T239A probably benign Het
Map4k2 T C 19: 6,395,672 (GRCm39) probably benign Het
Mon2 A G 10: 122,844,144 (GRCm39) S1469P probably damaging Het
Mthfd1l G A 10: 3,940,002 (GRCm39) probably null Het
Nasp T A 4: 116,463,002 (GRCm39) probably benign Het
Ndst4 A C 3: 125,232,258 (GRCm39) N276H possibly damaging Het
Nsmf C T 2: 24,946,079 (GRCm39) P189S probably damaging Het
Nt5m T G 11: 59,743,649 (GRCm39) D92E probably benign Het
Or10g6 T G 9: 39,933,731 (GRCm39) L14R probably damaging Het
Or4k39 T C 2: 111,239,033 (GRCm39) noncoding transcript Het
Or4p23 A T 2: 88,577,094 (GRCm39) I46N probably damaging Het
Pan3 T A 5: 147,391,982 (GRCm39) I119N probably damaging Het
Pard6b A T 2: 167,940,546 (GRCm39) S178C probably damaging Het
Parl A G 16: 20,106,728 (GRCm39) probably benign Het
Pdk2 A G 11: 94,919,851 (GRCm39) probably benign Het
Prag1 A G 8: 36,613,967 (GRCm39) E1173G probably benign Het
Prph2 T A 17: 47,234,391 (GRCm39) L320Q probably damaging Het
Psmd3 T C 11: 98,584,495 (GRCm39) I200T probably damaging Het
Rhbdd3 T A 11: 5,055,707 (GRCm39) S324T probably damaging Het
Rps6-ps2 A T 8: 89,533,112 (GRCm39) noncoding transcript Het
Rps8 G C 4: 117,012,352 (GRCm39) probably benign Het
Samd4 A G 14: 47,254,022 (GRCm39) N61S probably benign Het
Sfrp2 G A 3: 83,674,146 (GRCm39) A100T probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc6a13 A G 6: 121,279,700 (GRCm39) T25A probably benign Het
Sntg1 C A 1: 8,533,667 (GRCm39) R329L possibly damaging Het
Sorbs2 T C 8: 46,228,669 (GRCm39) F285L probably damaging Het
Speg T C 1: 75,395,773 (GRCm39) probably null Het
Srgap1 T C 10: 121,661,541 (GRCm39) Y533C probably damaging Het
Supt5 C A 7: 28,017,188 (GRCm39) S668I probably benign Het
Taf6l T G 19: 8,750,676 (GRCm39) I133L probably benign Het
Thrap3 G A 4: 126,074,279 (GRCm39) probably benign Het
Tmem115 A G 9: 107,412,054 (GRCm39) N126S probably benign Het
Trgc1 A T 13: 19,400,729 (GRCm39) I153F unknown Het
Tspoap1 T A 11: 87,667,952 (GRCm39) I1192N probably damaging Het
Vcan T C 13: 89,826,253 (GRCm39) I3184V probably damaging Het
Yeats4 G A 10: 117,051,585 (GRCm39) T224M probably benign Het
Zc3h13 A T 14: 75,569,400 (GRCm39) R1416* probably null Het
Zmynd12 T A 4: 119,299,098 (GRCm39) Y193N probably damaging Het
Other mutations in Mvk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Mvk APN 5 114,583,502 (GRCm39) missense probably benign 0.00
IGL01615:Mvk APN 5 114,584,353 (GRCm39) missense probably benign 0.41
IGL02735:Mvk APN 5 114,588,880 (GRCm39) missense probably benign 0.00
R0206:Mvk UTSW 5 114,597,035 (GRCm39) missense probably damaging 1.00
R1474:Mvk UTSW 5 114,598,157 (GRCm39) missense probably damaging 0.99
R2511:Mvk UTSW 5 114,588,459 (GRCm39) nonsense probably null
R4377:Mvk UTSW 5 114,591,022 (GRCm39) intron probably benign
R4861:Mvk UTSW 5 114,598,258 (GRCm39) intron probably benign
R4902:Mvk UTSW 5 114,594,060 (GRCm39) missense probably benign 0.05
R5073:Mvk UTSW 5 114,591,013 (GRCm39) intron probably benign
R5355:Mvk UTSW 5 114,590,499 (GRCm39) missense probably damaging 1.00
R5411:Mvk UTSW 5 114,597,034 (GRCm39) missense probably benign 0.00
R5637:Mvk UTSW 5 114,594,003 (GRCm39) missense possibly damaging 0.47
R6778:Mvk UTSW 5 114,590,441 (GRCm39) missense probably benign 0.01
R7402:Mvk UTSW 5 114,594,039 (GRCm39) missense possibly damaging 0.79
R8305:Mvk UTSW 5 114,588,840 (GRCm39) missense probably damaging 1.00
Z1088:Mvk UTSW 5 114,596,995 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGGTCCAGATGCTCAGTTG -3'
(R):5'- AGTGTATGCAAAACCTGGCC -3'

Sequencing Primer
(F):5'- AGATGCTCAGTTGCCCCTC -3'
(R):5'- GGTTATCTACCCACTTCACACAGAGG -3'
Posted On 2016-11-09