Incidental Mutation 'R0614:Mvd'
ID 54953
Institutional Source Beutler Lab
Gene Symbol Mvd
Ensembl Gene ENSMUSG00000006517
Gene Name mevalonate (diphospho) decarboxylase
Synonyms
MMRRC Submission 038803-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.945) question?
Stock # R0614 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 123160340-123170161 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 123163292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 313 (I313V)
Ref Sequence ENSEMBL: ENSMUSP00000006692 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006692] [ENSMUST00000017604] [ENSMUST00000127664] [ENSMUST00000211883] [ENSMUST00000212600]
AlphaFold Q99JF5
PDB Structure Mus Musculus Mevalonate Pyrophosphate Decarboxylase [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000006692
AA Change: I313V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000006692
Gene: ENSMUSG00000006517
AA Change: I313V

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: ENSMUST00000017604
SMART Domains Protein: ENSMUSP00000017604
Gene: ENSMUSG00000006519

DomainStartEndE-ValueType
Pfam:Cytochrom_B558a 2 190 7.8e-110 PFAM
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
Predicted Effect probably benign
Transcript: ENSMUST00000212600
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212822
Meta Mutation Damage Score 0.0802 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.4%
  • 20x: 94.9%
Validation Efficiency 97% (61/63)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C T 13: 77,340,782 (GRCm39) T137I probably benign Het
3110082I17Rik C T 5: 139,349,786 (GRCm39) V88I possibly damaging Het
4930453N24Rik T A 16: 64,586,977 (GRCm39) Q249L probably damaging Het
Ap1g2 C T 14: 55,337,230 (GRCm39) V702I probably benign Het
Armcx5 G A X: 134,647,564 (GRCm39) E547K probably damaging Het
Asah2 C A 19: 31,994,128 (GRCm39) V406L probably damaging Het
Atp8b1 T C 18: 64,666,658 (GRCm39) probably benign Het
Axl C A 7: 25,473,588 (GRCm39) R346L probably benign Het
Baz1a G A 12: 54,988,304 (GRCm39) R282* probably null Het
Card14 A G 11: 119,213,653 (GRCm39) N200S probably benign Het
Cdt1 A G 8: 123,294,876 (GRCm39) T28A probably benign Het
Cep250 C T 2: 155,812,017 (GRCm39) Q438* probably null Het
Dapk1 C A 13: 60,865,946 (GRCm39) P181Q probably damaging Het
Dnah17 C T 11: 117,961,394 (GRCm39) probably benign Het
Dph7 T C 2: 24,858,968 (GRCm39) probably null Het
Edc4 A T 8: 106,616,028 (GRCm39) D801V possibly damaging Het
Eif4g2 A G 7: 110,676,430 (GRCm39) probably null Het
Eml2 T C 7: 18,936,516 (GRCm39) L531P probably damaging Het
Ephb2 T C 4: 136,400,676 (GRCm39) Y533C probably benign Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Fsip2 A G 2: 82,807,877 (GRCm39) K1399E probably benign Het
Hcls1 A G 16: 36,782,987 (GRCm39) D446G probably damaging Het
Hif1a T A 12: 73,992,405 (GRCm39) N787K probably damaging Het
Ints14 T C 9: 64,871,715 (GRCm39) S18P probably benign Het
Kalrn A T 16: 33,814,040 (GRCm39) probably benign Het
Llgl2 T A 11: 115,741,093 (GRCm39) D502E probably damaging Het
Lrwd1 A G 5: 136,152,354 (GRCm39) V570A probably damaging Het
Mga C G 2: 119,794,947 (GRCm39) P2877R probably damaging Het
Myo15b C A 11: 115,773,739 (GRCm39) P270T probably damaging Het
Naip1 C A 13: 100,580,708 (GRCm39) V180L probably benign Het
Ofd1 T C X: 165,218,536 (GRCm39) probably benign Het
Or1j19 T A 2: 36,676,705 (GRCm39) L56H probably damaging Het
Or4c125 T A 2: 89,170,329 (GRCm39) I106F probably damaging Het
Or4d11 A T 19: 12,013,929 (GRCm39) M59K possibly damaging Het
Otogl G A 10: 107,634,216 (GRCm39) P1420S probably benign Het
Pakap C A 4: 57,856,720 (GRCm39) A926E probably benign Het
Pcnt C T 10: 76,256,150 (GRCm39) V697M probably damaging Het
Plekha7 A T 7: 115,753,880 (GRCm39) Y702* probably null Het
Plxnb3 A G X: 72,807,964 (GRCm39) probably benign Het
Ptgis A G 2: 167,048,802 (GRCm39) F405L probably damaging Het
Ptprk C T 10: 27,951,132 (GRCm39) P19L probably damaging Het
Ptprt A G 2: 161,654,040 (GRCm39) V530A possibly damaging Het
Rasgrp4 A T 7: 28,845,276 (GRCm39) Y299F probably damaging Het
Slc39a11 T A 11: 113,414,452 (GRCm39) probably null Het
Slc6a15 T A 10: 103,240,213 (GRCm39) L312* probably null Het
Slf1 T A 13: 77,197,233 (GRCm39) M794L probably benign Het
Sntg2 G A 12: 30,307,977 (GRCm39) T236I possibly damaging Het
Stau1 T C 2: 166,792,726 (GRCm39) Y413C probably damaging Het
Syne2 T G 12: 75,959,127 (GRCm39) probably null Het
Tas2r104 A T 6: 131,662,165 (GRCm39) N181K probably damaging Het
Tmem81 G A 1: 132,435,469 (GRCm39) V92I probably benign Het
Trap1 A G 16: 3,878,615 (GRCm39) probably benign Het
Trip12 T C 1: 84,735,482 (GRCm39) E905G probably damaging Het
Usp2 C T 9: 44,003,789 (GRCm39) R494* probably null Het
Vps13a G T 19: 16,630,058 (GRCm39) R2692S probably damaging Het
Zfhx3 T C 8: 109,675,171 (GRCm39) S2074P probably benign Het
Zfhx3 C G 8: 109,675,599 (GRCm39) Y2216* probably null Het
Zfp423 A G 8: 88,508,742 (GRCm39) F409S probably damaging Het
Zfp472 G A 17: 33,196,908 (GRCm39) E328K possibly damaging Het
Zfp619 T A 7: 39,187,099 (GRCm39) M1043K possibly damaging Het
Zfp940 T C 7: 29,545,671 (GRCm39) I79V 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
R0094:Mvd UTSW 8 123,166,442 (GRCm39) missense probably benign 0.10
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
Predicted Primers PCR Primer
(F):5'- GGCATTTGTTCACACACCCACG -3'
(R):5'- TGGTTTGATTGCATGGGCTCCATAC -3'

Sequencing Primer
(F):5'- TGGCTACCAGGAGAGTTTCAATG -3'
(R):5'- TCCATACAGCTCTGGGAGAC -3'
Posted On 2013-07-11