Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01631:Mvd'

93465

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mvd

Ensembl Gene

ENSMUSG00000006517

Gene Name

mevalonate (diphospho) decarboxylase

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

IGL01631

Quality Score

Status

Chromosome

Chromosomal Location

123160340-123170161 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123161560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 370 (Y370H)

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

possibly damaging
Transcript: ENSMUST00000006692
AA Change: Y370H

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000006692
Gene: ENSMUSG00000006517
AA Change: Y370H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212822

Coding Region Coverage

Validation Efficiency

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apip	C	A	2: 102,904,194 (GRCm39)		probably benign	Het
Arid4a	C	T	12: 71,069,036 (GRCm39)		probably benign	Het
Brwd1	C	A	16: 95,847,666 (GRCm39)	E98D	probably damaging	Het
Cactin	A	G	10: 81,159,058 (GRCm39)	E303G	probably benign	Het
Ccdc181	T	A	1: 164,107,713 (GRCm39)	I132K	possibly damaging	Het
Celsr3	A	G	9: 108,714,603 (GRCm39)	H1995R	probably benign	Het
Cog4	A	G	8: 111,608,472 (GRCm39)	E756G	probably damaging	Het
Ctsf	T	C	19: 4,908,106 (GRCm39)	L217P	probably damaging	Het
Dmp1	G	T	5: 104,360,734 (GRCm39)	R470L	probably benign	Het
Dnajc9	T	C	14: 20,438,176 (GRCm39)	D142G	probably benign	Het
Ednrb	T	A	14: 104,080,661 (GRCm39)	R84S	probably benign	Het
Gm1110	A	T	9: 26,809,212 (GRCm39)		probably null	Het
Has2	A	G	15: 56,545,072 (GRCm39)	S177P	possibly damaging	Het
Herc6	C	T	6: 57,581,092 (GRCm39)	S264F	probably benign	Het
Il1rl2	T	A	1: 40,395,974 (GRCm39)		probably null	Het
Ltbp2	A	G	12: 84,855,920 (GRCm39)		probably null	Het
Map4	A	G	9: 109,892,201 (GRCm39)		probably benign	Het
Marchf4	T	A	1: 72,491,690 (GRCm39)	K194*	probably null	Het
Megf10	A	G	18: 57,392,869 (GRCm39)	D422G	possibly damaging	Het
Mfsd2a	C	A	4: 122,843,100 (GRCm39)	A394S	probably benign	Het
Mmp27	T	C	9: 7,573,289 (GRCm39)		probably benign	Het
Or4a81	T	C	2: 89,619,129 (GRCm39)	D189G	probably damaging	Het
Or8b55	T	A	9: 38,727,335 (GRCm39)	C179S	probably damaging	Het
Pramel31	A	G	4: 144,089,015 (GRCm39)	H111R	probably benign	Het
Ptk2	G	A	15: 73,088,220 (GRCm39)	H859Y	probably damaging	Het
Ptprq	T	A	10: 107,479,399 (GRCm39)	E1209D	probably benign	Het
Rhot1	C	T	11: 80,156,600 (GRCm39)	T636M	probably damaging	Het
Ripk2	C	A	4: 16,163,342 (GRCm39)	A19S	possibly damaging	Het
Rsbn1l	G	A	5: 21,101,569 (GRCm39)	S657L	probably damaging	Het
Rsbn1l	A	T	5: 21,101,570 (GRCm39)	S657T	probably damaging	Het
Sema6c	A	G	3: 95,077,714 (GRCm39)	T450A	probably benign	Het
Slc25a1	C	T	16: 17,743,930 (GRCm39)	C262Y	probably damaging	Het
Slfn3	T	C	11: 83,104,361 (GRCm39)	S288P	probably damaging	Het
Snrnp200	T	A	2: 127,080,744 (GRCm39)		probably benign	Het
Spata31e2	T	C	1: 26,724,495 (GRCm39)	I228M	probably damaging	Het
Ssu2	T	C	6: 112,351,843 (GRCm39)	Y294C	probably damaging	Het
Terb1	A	G	8: 105,199,496 (GRCm39)	S483P	probably damaging	Het
Tsga13	T	C	6: 30,890,501 (GRCm39)	K8E	possibly damaging	Het
Zbbx	T	G	3: 74,985,984 (GRCm39)	D351A	probably damaging	Het
Zfp454	G	T	11: 50,774,562 (GRCm39)	A37D	probably benign	Het

Other mutations in Mvd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-12-09