Mutagenetix > Incidental Mutation

Incidental Mutation 'R4902:Mvk'

377868

Institutional Source

Beutler Lab

Gene Symbol

Mvk

Ensembl Gene

ENSMUSG00000041939

Gene Name

mevalonate kinase

Synonyms

2310010A05Rik

MMRRC Submission

042505-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4902 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114582330-114598652 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114594060 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 305 (V305A)

Ref Sequence

ENSEMBL: ENSMUSP00000107858 (fasta)

Gene Model

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

AlphaFold

Q9R008

Predicted Effect

probably benign
Transcript: ENSMUST00000043760
AA Change: V293A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000036971
Gene: ENSMUSG00000041939
AA Change: V293A

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
AA Change: V305A

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000107858
Gene: ENSMUSG00000041939
AA Change: V305A

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

0.1100

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.0%

Validation Efficiency

100% (84/84)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930488N24Rik	T	C	17: 14,326,408 (GRCm39)		noncoding transcript	Het
Adamdec1	T	C	14: 68,809,215 (GRCm39)	N249S	probably damaging	Het
Asxl1	T	A	2: 153,241,751 (GRCm39)	V767E	probably benign	Het
Atp6v1f	T	C	6: 29,470,271 (GRCm39)		probably benign	Het
Brix1	T	C	15: 10,483,378 (GRCm39)		probably null	Het
Cap2	T	C	13: 46,684,501 (GRCm39)	V2A	probably damaging	Het
Chrnb2	A	G	3: 89,668,248 (GRCm39)	C356R	probably damaging	Het
Chtf8	C	T	8: 107,612,424 (GRCm39)	G172R	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dact2	T	A	17: 14,416,991 (GRCm39)	K403M	possibly damaging	Het
Dhx40	A	C	11: 86,662,036 (GRCm39)	L674V	possibly damaging	Het
Dlc1	A	G	8: 37,044,285 (GRCm39)	V1230A	probably damaging	Het
Dnah7b	T	A	1: 46,329,935 (GRCm39)	S3260T	probably benign	Het
Eef1a2	T	A	2: 180,789,881 (GRCm39)	D428V	probably benign	Het
Ehd1	T	C	19: 6,344,273 (GRCm39)	F178L	possibly damaging	Het
Eif4a3l1	T	G	6: 136,306,262 (GRCm39)	V241G	probably benign	Het
F2	A	T	2: 91,465,316 (GRCm39)		probably benign	Het
Fam186a	T	C	15: 99,844,723 (GRCm39)	D507G	unknown	Het
Fbxo11	G	A	17: 88,372,702 (GRCm39)		probably benign	Het
Fry	A	T	5: 150,419,168 (GRCm39)	M2871L	probably benign	Het
Gabrr2	A	G	4: 33,095,512 (GRCm39)	D442G	probably damaging	Het
Gemin5	A	G	11: 58,055,103 (GRCm39)	I214T	probably benign	Het
Gfra2	A	G	14: 71,204,455 (GRCm39)	N175S	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Jhy	C	T	9: 40,808,821 (GRCm39)		probably benign	Het
Krtap5-5	A	T	7: 141,783,156 (GRCm39)	C165S	unknown	Het
Lce1k	T	A	3: 92,714,134 (GRCm39)	T17S	unknown	Het
Map3k1	C	T	13: 111,909,146 (GRCm39)	R268Q	probably damaging	Het
Med13l	T	A	5: 118,883,195 (GRCm39)	H1351Q	probably damaging	Het
Met	T	C	6: 17,546,995 (GRCm39)	V876A	probably damaging	Het
Mical2	T	C	7: 111,936,107 (GRCm39)	S903P	probably benign	Het
Mkks	A	G	2: 136,718,094 (GRCm39)	V396A	probably benign	Het
Myo5a	A	G	9: 75,081,360 (GRCm39)	T982A	probably benign	Het
N4bp1	A	G	8: 87,588,311 (GRCm39)	V209A	probably benign	Het
Nfkbib	G	T	7: 28,461,173 (GRCm39)	S158*	probably null	Het
Nkx3-1	G	A	14: 69,428,367 (GRCm39)	G72S	probably benign	Het
Ogfr	A	G	2: 180,235,518 (GRCm39)		probably benign	Het
Or10a3	G	A	7: 108,480,624 (GRCm39)	T63I	probably benign	Het
Or2t43	G	A	11: 58,457,451 (GRCm39)	S240F	possibly damaging	Het
Or8s8	T	C	15: 98,354,796 (GRCm39)	S202P	probably damaging	Het
Pcdhga8	T	A	18: 37,948,978 (GRCm39)	D131E	probably damaging	Het
Plch1	A	G	3: 63,648,264 (GRCm39)		probably benign	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Ppp1r12a	T	C	10: 108,066,451 (GRCm39)	V214A	probably damaging	Het
Prr5l	A	G	2: 101,628,027 (GRCm39)		probably benign	Het
Prss35	A	G	9: 86,638,175 (GRCm39)	Q315R	probably damaging	Het
Psg29	G	T	7: 16,945,837 (GRCm39)	*469L	probably null	Het
Psmd4	A	G	3: 94,943,170 (GRCm39)	V78A	probably damaging	Het
Rad9a	C	A	19: 4,251,552 (GRCm39)		probably benign	Het
Rfx7	G	T	9: 72,524,573 (GRCm39)	V588F	probably benign	Het
Rnase13	A	C	14: 52,160,052 (GRCm39)	I29S	probably benign	Het
Steap2	T	C	5: 5,725,866 (GRCm39)	N386S	possibly damaging	Het
Ston1	A	G	17: 88,952,680 (GRCm39)	E719G	probably damaging	Het
Stx4a	A	G	7: 127,441,934 (GRCm39)		probably null	Het
Tekt2	A	G	4: 126,217,263 (GRCm39)	S212P	possibly damaging	Het
Tex19.2	A	T	11: 121,007,782 (GRCm39)	L222Q	probably damaging	Het
Tmem50a	A	G	4: 134,637,017 (GRCm39)	I38T	probably damaging	Het
Ubr2	A	G	17: 47,296,922 (GRCm39)	V286A	possibly damaging	Het
Ugt2b35	T	C	5: 87,151,159 (GRCm39)	M255T	possibly damaging	Het
Vmn2r17	T	A	5: 109,601,220 (GRCm39)	F839L	probably benign	Het
Wdr36	T	C	18: 32,992,314 (GRCm39)	V617A	possibly damaging	Het
Wtip	A	T	7: 33,818,437 (GRCm39)		probably null	Het
Yeats2	G	A	16: 20,026,418 (GRCm39)	G765S	probably benign	Het
Zbtb3	T	C	19: 8,781,331 (GRCm39)	S315P	probably benign	Het
Zdhhc8	T	C	16: 18,045,030 (GRCm39)	M259V	probably benign	Het
Zfp120	A	G	2: 149,961,440 (GRCm39)		probably benign	Het
Zfp236	A	T	18: 82,627,543 (GRCm39)	I1552N	possibly 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
R4377:Mvk	UTSW	5	114,591,022 (GRCm39)	intron	probably benign
R4861:Mvk	UTSW	5	114,598,258 (GRCm39)	intron	probably benign
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'- GTAAATGGTGCTCTGCCACTACAG -3'
(R):5'- TTGAGTGGACACCCGTAGTC -3'

Sequencing Primer
(F):5'- TGCCACTACAGCAGGGTCTG -3'
(R):5'- TAGGAAGGTGGGCATCTCC -3'

Posted On

2016-04-15