Mutagenetix > Incidental Mutations

Incidental Mutation 'R4861:Mvk'

380246

Institutional Source

Beutler Lab

Gene Symbol

Mvk

Ensembl Gene

ENSMUSG00000041939

Gene Name

mevalonate kinase

Synonyms

2310010A05Rik

MMRRC Submission

042472-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4861 (G1)

Quality Score

179

Status

Validated

Chromosome

Chromosomal Location

114444269-114460591 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 114460197 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142376 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043760] [ENSMUST00000112239] [ENSMUST00000125650] [ENSMUST00000139420]

Predicted Effect

probably benign
Transcript: ENSMUST00000043760

SMART Domains

Protein: ENSMUSP00000036971
Gene: ENSMUSG00000041939

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000107858
Gene: ENSMUSG00000041939

Domain	Start	End	E-Value	Type
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

noncoding transcript
Transcript: ENSMUST00000125120

Predicted Effect

probably benign
Transcript: ENSMUST00000125650

SMART Domains

Protein: ENSMUSP00000114611
Gene: ENSMUSG00000041939

Domain	Start	End	E-Value	Type
low complexity region	120	130	N/A	INTRINSIC
Pfam:GHMP_kinases_N	142	224	1.3e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139420

SMART Domains

Protein: ENSMUSP00000142376
Gene: ENSMUSG00000041939

Domain	Start	End	E-Value	Type
PDB:2R42\|A	1	62	6e-30	PDB
SCOP:d1kvka1	2	31	1e-10	SMART

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.2%
20x: 84.7%

Validation Efficiency

100% (53/53)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,245,905	R1153H	probably damaging	Het
Ahcy	T	C	2: 155,060,516	E411G	probably benign	Het
Alpi	T	A	1: 87,100,469	I211F	probably damaging	Het
Arfgef3	G	A	10: 18,607,731	A1415V	probably benign	Het
Car3	T	C	3: 14,866,896	V109A	probably damaging	Het
Ccdc114	A	G	7: 45,942,873	E359G	probably damaging	Het
Cdk13	A	T	13: 17,766,586	V17D	probably damaging	Het
Cept1	A	C	3: 106,505,732	S226A	probably damaging	Het
Dbt	A	T	3: 116,548,078	I443L	probably benign	Het
Dync1h1	C	A	12: 110,658,126	T3700N	probably damaging	Het
Farp2	T	C	1: 93,605,419	L633S	probably damaging	Het
Frmd6	T	G	12: 70,893,726	S382A	probably damaging	Het
Gm26727	T	C	2: 67,432,945	I79M	probably damaging	Het
Gm5800	T	A	14: 51,716,047	N37I	probably damaging	Het
Hapln1	G	A	13: 89,601,452	G39S	possibly damaging	Het
Ice2	T	A	9: 69,415,448	S408R	probably benign	Het
Lctl	T	C	9: 64,119,763	I131T	possibly damaging	Het
Mzt1	T	C	14: 99,047,474		probably null	Het
Ncoa7	T	A	10: 30,704,612	M117L	probably benign	Het
Npy4r	C	T	14: 34,146,883	W149*	probably null	Het
Nr5a2	A	G	1: 136,948,720		probably null	Het
Plg	G	A	17: 12,395,735	E301K	probably benign	Het
Pnkp	C	T	7: 44,862,403	S113L	probably damaging	Het
Rapgef2	T	C	3: 79,074,436	K1084R	probably benign	Het
Slc41a2	T	C	10: 83,316,458	Q51R	probably damaging	Het
Slc47a2	A	T	11: 61,336,233	C170S	probably benign	Het
Slco1b2	A	T	6: 141,671,222	N427I	possibly damaging	Het
Smc2	G	A	4: 52,461,090	R571H	probably benign	Het
Sp4	G	T	12: 118,300,811		probably null	Het
Tas2r117	T	C	6: 132,803,129	F77L	probably benign	Het
Tbcd	C	T	11: 121,601,961	R875C	probably damaging	Het
Thumpd2	A	G	17: 81,026,801	S453P	probably benign	Het
Vars2	G	T	17: 35,661,933	Q13K	probably benign	Het

Other mutations in Mvk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:Mvk	APN	5	114445441	missense	probably benign	0.00
IGL01615:Mvk	APN	5	114446292	missense	probably benign	0.41
IGL02735:Mvk	APN	5	114450819	missense	probably benign	0.00
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
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
R8305:Mvk	UTSW	5	114450779	missense	probably damaging	1.00
Z1088:Mvk	UTSW	5	114458934	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAGCCTCAGAAGCCACAAG -3'
(R):5'- CCAGAGAGTTTGTGTGAGGC -3'

Sequencing Primer
(F):5'- ATCCCCCAAGGCTGACTG -3'
(R):5'- ATGTGCCCATAGGAGCTCCAG -3'

Posted On

2016-04-15