Mutagenetix > Incidental Mutation

Incidental Mutation 'R8881:Mvd'

676925

Institutional Source

Beutler Lab

Gene Symbol

Mvd

Ensembl Gene

ENSMUSG00000006517

Gene Name

mevalonate (diphospho) decarboxylase

Synonyms

MMRRC Submission

068749-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.944) question?

Stock #

R8881 (G1)

Quality Score

206.009

Status

Validated

Chromosome

Chromosomal Location

123160340-123170161 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 123164564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000006692 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006692] [ENSMUST00000006692] [ENSMUST00000006692] [ENSMUST00000017604] [ENSMUST00000127664] [ENSMUST00000211883] [ENSMUST00000212600]

AlphaFold

Q99JF5

PDB Structure

Mus Musculus Mevalonate Pyrophosphate Decarboxylase [X-RAY DIFFRACTION]

Predicted Effect

probably null
Transcript: ENSMUST00000006692

SMART Domains

Protein: ENSMUSP00000006692
Gene: ENSMUSG00000006517

Domain	Start	End	E-Value	Type
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 null
Transcript: ENSMUST00000006692

SMART Domains

Protein: ENSMUSP00000006692
Gene: ENSMUSG00000006517

Domain	Start	End	E-Value	Type
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 null
Transcript: ENSMUST00000006692

SMART Domains

Protein: ENSMUSP00000006692
Gene: ENSMUSG00000006517

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Cytochrom_B558a	2	190	7.8e-110	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (69/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	A	7: 120,074,794 (GRCm39)	C612Y	probably benign	Het
Adam21	T	C	12: 81,606,650 (GRCm39)	T371A	probably benign	Het
Akap9	T	C	5: 4,011,279 (GRCm39)	S661P		Het
Anxa11	C	T	14: 25,874,687 (GRCm39)	R233C	probably damaging	Het
Capza3	A	C	6: 139,987,521 (GRCm39)	D40A	probably damaging	Het
Caskin1	C	A	17: 24,718,273 (GRCm39)	N294K	probably damaging	Het
Cdh1	T	C	8: 107,392,904 (GRCm39)	V796A	probably benign	Het
Cfap251	C	T	5: 123,462,438 (GRCm39)	P1249L	probably damaging	Het
Cped1	A	T	6: 22,119,578 (GRCm39)	T346S	possibly damaging	Het
Crisp4	A	T	1: 18,185,902 (GRCm39)	V278D	probably damaging	Het
Ddx60	A	C	8: 62,474,343 (GRCm39)	D1477A	possibly damaging	Het
Dmrtb1	T	C	4: 107,537,922 (GRCm39)	D82G	possibly damaging	Het
Dnah11	T	C	12: 118,077,647 (GRCm39)	N1282S	probably benign	Het
Dnah11	C	T	12: 118,090,550 (GRCm39)	V1104M	probably benign	Het
Dot1l	A	G	10: 80,621,429 (GRCm39)	E630G	probably damaging	Het
Dppa4	C	A	16: 48,108,299 (GRCm39)	T28K		Het
Dusp5	T	A	19: 53,529,745 (GRCm39)	S383T	probably benign	Het
Eef2k	C	T	7: 120,472,548 (GRCm39)	A87V	probably damaging	Het
Epha1	T	C	6: 42,337,961 (GRCm39)	Y828C	probably damaging	Het
Erbb4	A	C	1: 68,382,997 (GRCm39)		probably null	Het
Fam151b	T	A	13: 92,604,630 (GRCm39)	M120L	probably benign	Het
Fam237b	A	C	5: 5,625,379 (GRCm39)	D25A	possibly damaging	Het
Fez2	T	C	17: 78,689,051 (GRCm39)	D366G	probably damaging	Het
Frmd4b	G	T	6: 97,272,735 (GRCm39)	H886N	probably benign	Het
Galnt17	T	C	5: 130,906,635 (GRCm39)	H511R	probably benign	Het
Grpel1	C	A	5: 36,626,816 (GRCm39)	Q33K	possibly damaging	Het
Gzmm	A	C	10: 79,530,819 (GRCm39)		probably null	Het
Hmcn1	C	A	1: 150,525,723 (GRCm39)	L3333F	probably damaging	Het
Il21r	A	T	7: 125,231,498 (GRCm39)	T309S	probably benign	Het
Itgal	G	A	7: 126,929,541 (GRCm39)	V1153M	probably benign	Het
Kdf1	G	A	4: 133,257,654 (GRCm39)	A390T	possibly damaging	Het
Lcn11	G	T	2: 25,669,296 (GRCm39)	R151L	probably benign	Het
Lgi3	T	A	14: 70,770,282 (GRCm39)	Y116N	probably damaging	Het
Llgl2	A	G	11: 115,743,866 (GRCm39)	H731R	probably benign	Het
Lrp5	A	T	19: 3,641,015 (GRCm39)	S1482T	probably damaging	Het
Meis2	T	C	2: 115,889,116 (GRCm39)	D212G	probably benign	Het
Mrgpra9	A	G	7: 46,885,242 (GRCm39)	C142R	possibly damaging	Het
Mrgprf	A	G	7: 144,861,999 (GRCm39)	H187R	probably benign	Het
Neb	T	C	2: 52,096,999 (GRCm39)	I4938M	possibly damaging	Het
Nipal4	A	T	11: 46,042,177 (GRCm39)	M168K	probably benign	Het
Nr1h4	A	G	10: 89,319,351 (GRCm39)	Y158H	probably damaging	Het
Nrxn2	T	C	19: 6,554,920 (GRCm39)	I1133T	probably benign	Het
Numa1	T	C	7: 101,650,684 (GRCm39)	Y1472H	probably benign	Het
Or10ak8	A	G	4: 118,774,571 (GRCm39)	V31A	probably benign	Het
Or12j3	A	G	7: 139,952,698 (GRCm39)	V275A	probably benign	Het
Or2y10	G	A	11: 49,455,209 (GRCm39)	V154M	probably benign	Het
Or3a1d	T	C	11: 74,237,471 (GRCm39)	D313G	probably benign	Het
Or52h7	A	G	7: 104,213,619 (GRCm39)	M64V	possibly damaging	Het
Pate7	T	A	9: 35,689,384 (GRCm39)		probably benign	Het
Pcdha6	G	T	18: 37,101,484 (GRCm39)	V226F	probably damaging	Het
Pnpla6	G	A	8: 3,581,489 (GRCm39)	M605I	probably benign	Het
Ppp1r13l	G	A	7: 19,105,194 (GRCm39)	R322H	probably damaging	Het
Sgtb	T	C	13: 104,258,046 (GRCm39)		probably null	Het
Skint6	T	C	4: 112,672,716 (GRCm39)	K1086E	possibly damaging	Het
Slc4a11	T	C	2: 130,527,457 (GRCm39)	E646G	probably damaging	Het
Speg	G	T	1: 75,377,795 (GRCm39)	R851L	possibly damaging	Het
Spns3	T	G	11: 72,429,912 (GRCm39)	D172A	probably damaging	Het
Srgap3	A	G	6: 112,700,098 (GRCm39)	V984A	probably benign	Het
Syne1	A	T	10: 5,223,639 (GRCm39)	D3080E	probably damaging	Het
Taf5l	T	C	8: 124,730,101 (GRCm39)	H196R	possibly damaging	Het
Tmem229a	G	C	6: 24,955,587 (GRCm39)	R56G	probably damaging	Het
Tmprss6	A	C	15: 78,327,987 (GRCm39)	*582G	probably null	Het
Trip13	C	A	13: 74,077,795 (GRCm39)	R173L	possibly damaging	Het
Trpm7	A	T	2: 126,661,883 (GRCm39)	V1055E	probably damaging	Het
Utrn	A	G	10: 12,423,737 (GRCm39)	I2T	possibly damaging	Het
V1rd19	T	A	7: 23,703,081 (GRCm39)	S182R	possibly damaging	Het
Vmn2r58	C	A	7: 41,486,609 (GRCm39)	G762V	probably benign	Het
Zfp874b	T	C	13: 67,622,141 (GRCm39)	K386E	probably damaging	Het

Other mutations in Mvd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R0614:Mvd	UTSW	8	123,163,292 (GRCm39)	missense	probably benign	0.00
R1740:Mvd	UTSW	8	123,163,286 (GRCm39)	missense	probably benign	0.00
Z1088:Mvd	UTSW	8	123,166,469 (GRCm39)	missense	probably benign	0.44

Predicted Primers

PCR Primer
(F):5'- CATAGATGAGGGGCACATCC -3'
(R):5'- TTCAGCCTATACCCTGGCTCAG -3'

Sequencing Primer
(F):5'- ACATCCAGGCCATTGTGG -3'
(R):5'- CCTGGCTCAGGTCTATGGG -3'

Posted On

2021-07-15