Mutagenetix > Incidental Mutation

Incidental Mutation 'R4377:Mvk'

325141

Institutional Source

Beutler Lab

Gene Symbol

Mvk

Ensembl Gene

ENSMUSG00000041939

Gene Name

mevalonate kinase

Synonyms

2310010A05Rik

MMRRC Submission

041676-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4377 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114582330-114598652 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 114591022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142376 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043760] [ENSMUST00000112239] [ENSMUST00000124260] [ENSMUST00000125650] [ENSMUST00000137167] [ENSMUST00000139420]

AlphaFold

Q9R008

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

probably benign
Transcript: ENSMUST00000124260

SMART Domains

Protein: ENSMUSP00000143347
Gene: ENSMUSG00000041939

Domain	Start	End	E-Value	Type
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 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: ENSMUST00000137167

SMART Domains

Protein: ENSMUSP00000142758
Gene: ENSMUSG00000041939

Domain	Start	End	E-Value	Type
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

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (57/58)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck5	A	G	15: 76,478,535 (GRCm39)		probably benign	Het
Arhgap22	A	G	14: 33,091,467 (GRCm39)	M681V	probably damaging	Het
Armh4	T	A	14: 50,007,893 (GRCm39)	T527S	probably damaging	Het
Atp10d	T	C	5: 72,454,318 (GRCm39)	L189P	probably damaging	Het
BC034090	A	G	1: 155,108,196 (GRCm39)	C384R	probably benign	Het
Ccdc180	T	A	4: 45,941,877 (GRCm39)	L1380Q	probably damaging	Het
Cd209c	T	C	8: 4,004,635 (GRCm39)		noncoding transcript	Het
Cenpp	A	G	13: 49,647,907 (GRCm39)		probably benign	Het
Csf1	T	A	3: 107,664,055 (GRCm39)	T38S	probably damaging	Het
Csn1s2a	T	C	5: 87,923,680 (GRCm39)	V12A	probably benign	Het
Dapk1	A	G	13: 60,867,498 (GRCm39)	D235G	probably benign	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Frmd3	T	A	4: 74,046,535 (GRCm39)		probably null	Het
Gart	G	A	16: 91,430,982 (GRCm39)	A360V	probably benign	Het
Gm7251	T	A	13: 49,958,676 (GRCm39)		noncoding transcript	Het
Gon4l	C	A	3: 88,814,694 (GRCm39)	P1888T	probably benign	Het
Hk1	C	A	10: 62,151,319 (GRCm39)	K10N	probably damaging	Het
Itgal	A	G	7: 126,927,453 (GRCm39)	Y981C	probably benign	Het
Kcp	C	T	6: 29,493,202 (GRCm39)	C107Y	probably damaging	Het
Kdm2a	C	T	19: 4,379,082 (GRCm39)	V138M	probably benign	Het
Kit	T	C	5: 75,801,159 (GRCm39)	I515T	probably benign	Het
Kmt2c	C	T	5: 25,520,324 (GRCm39)	V1929I	probably benign	Het
Krt33a	T	C	11: 99,903,253 (GRCm39)	E263G	possibly damaging	Het
Mark2	T	C	19: 7,268,054 (GRCm39)	I50V	possibly damaging	Het
Mug2	G	T	6: 122,047,966 (GRCm39)		probably null	Het
Myh6	T	A	14: 55,199,565 (GRCm39)	I249F	probably damaging	Het
Naa15	T	C	3: 51,355,786 (GRCm39)	I229T	possibly damaging	Het
Napb	A	C	2: 148,574,184 (GRCm39)		probably null	Het
Ncoa3	T	G	2: 165,896,417 (GRCm39)	L440R	possibly damaging	Het
Or52ae7	T	C	7: 103,119,278 (GRCm39)	S11P	probably damaging	Het
Or8g52	T	A	9: 39,631,103 (GRCm39)	F193L	probably benign	Het
Osbpl8	T	A	10: 111,105,280 (GRCm39)	I245N	possibly damaging	Het
Pdia4	G	A	6: 47,775,326 (GRCm39)	R495W	probably damaging	Het
Pfn4	T	A	12: 4,820,182 (GRCm39)	D10E	probably damaging	Het
Plekha5	T	C	6: 140,525,191 (GRCm39)	Y376H	probably damaging	Het
Pole	T	A	5: 110,485,071 (GRCm39)	I395K	possibly damaging	Het
Prcc	A	G	3: 87,774,714 (GRCm39)	Y363H	probably damaging	Het
Ptprc	A	T	1: 137,995,663 (GRCm39)	M982K	probably benign	Het
Ptpro	T	A	6: 137,357,264 (GRCm39)	F252I	probably benign	Het
Pusl1	A	G	4: 155,975,037 (GRCm39)	V188A	probably benign	Het
Rad54l2	A	G	9: 106,570,421 (GRCm39)	S1300P	probably benign	Het
Rpl11	G	A	4: 135,778,454 (GRCm39)		probably benign	Het
Rtel1	T	A	2: 180,997,589 (GRCm39)	H1104Q	probably damaging	Het
Setbp1	T	C	18: 78,903,137 (GRCm39)	R177G	probably damaging	Het
Skint6	T	C	4: 113,093,715 (GRCm39)	T143A	possibly damaging	Het
Steep1	C	A	X: 36,087,812 (GRCm39)	C206F	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Zfp583	A	G	7: 6,320,680 (GRCm39)	S111P	possibly damaging	Het
Zmiz1	T	C	14: 25,636,434 (GRCm39)	S140P	probably damaging	Het

Other mutations in Mvk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R5687:Mvk	UTSW	5	114,588,826 (GRCm39)	missense	probably damaging	1.00
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'- ACTTAGCCTGGCATGTCCTG -3'
(R):5'- GAAACAGCCTGAGACGTATGTC -3'

Sequencing Primer
(F):5'- GATGGCTACTGTCTCTCT -3'
(R):5'- GACGTATGTCTACATTCCCGGG -3'

Posted On

2015-07-06