Mutagenetix > Incidental Mutation

Incidental Mutation 'R8305:Mvk'

640991

Institutional Source

Beutler Lab

Gene Symbol

Mvk

Ensembl Gene

ENSMUSG00000041939

Gene Name

mevalonate kinase

Synonyms

2310010A05Rik

MMRRC Submission

067716-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8305 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114582330-114598652 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 114588840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 161 (Y161H)

Ref Sequence

ENSEMBL: ENSMUSP00000107858 (fasta)

Gene Model

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

AlphaFold

Q9R008

Predicted Effect

probably damaging
Transcript: ENSMUST00000043760
AA Change: Y149H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036971
Gene: ENSMUSG00000041939
AA Change: Y149H

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 damaging
Transcript: ENSMUST00000112239
AA Change: Y161H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107858
Gene: ENSMUSG00000041939
AA Change: Y161H

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 damaging
Transcript: ENSMUST00000124260
AA Change: Y161H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143347
Gene: ENSMUSG00000041939
AA Change: Y161H

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

probably damaging
Transcript: ENSMUST00000125650
AA Change: Y161H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114611
Gene: ENSMUSG00000041939
AA Change: Y161H

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 damaging
Transcript: ENSMUST00000137167
AA Change: Y149H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142758
Gene: ENSMUSG00000041939
AA Change: Y149H

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (65/66)

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
4930578I06Rik	C	T	14: 64,208,844 (GRCm39)	E243K	possibly damaging	Het
Accsl	A	T	2: 93,696,423 (GRCm39)	H58Q	probably benign	Het
Actl7a	T	A	4: 56,743,744 (GRCm39)	F90L	probably benign	Het
Adam5	G	A	8: 25,300,719 (GRCm39)	A270V	possibly damaging	Het
Angptl3	A	G	4: 98,919,548 (GRCm39)	T103A	probably damaging	Het
Ankhd1	T	C	18: 36,780,219 (GRCm39)	L1757P	possibly damaging	Het
Apoa4	T	A	9: 46,152,453 (GRCm39)	M1K	probably null	Het
Arih1	T	A	9: 59,303,770 (GRCm39)	Q445L	probably benign	Het
Asb14	A	T	14: 26,634,054 (GRCm39)	I420L	probably benign	Het
Bbs2	A	C	8: 94,800,953 (GRCm39)	V626G	probably damaging	Het
Cep290	C	A	10: 100,380,796 (GRCm39)	A1678D	probably benign	Het
Cilp	G	A	9: 65,186,286 (GRCm39)	G794S	probably damaging	Het
Clca3a1	C	T	3: 144,464,927 (GRCm39)		probably benign	Het
Clca3b	T	A	3: 144,531,698 (GRCm39)	N702I	probably damaging	Het
Col24a1	T	C	3: 145,179,937 (GRCm39)	V1143A	probably benign	Het
Cux1	T	C	5: 136,388,863 (GRCm39)	T223A	probably benign	Het
Defa30	A	T	8: 21,625,475 (GRCm39)	T80S	probably benign	Het
Dennd1a	G	A	2: 37,748,093 (GRCm39)	L375F	probably damaging	Het
Dnajc6	C	T	4: 101,480,984 (GRCm39)	T675I	probably damaging	Het
Emc9	A	G	14: 55,822,556 (GRCm39)	V4A	probably damaging	Het
Enpp3	C	G	10: 24,700,827 (GRCm39)		probably null	Het
Fam117b	A	G	1: 59,952,782 (GRCm39)	T154A	probably benign	Het
Filip1	G	T	9: 79,727,757 (GRCm39)	Y287*	probably null	Het
Flt3	T	C	5: 147,284,864 (GRCm39)	D751G	probably damaging	Het
Frem1	T	A	4: 82,918,226 (GRCm39)	Q572L	probably benign	Het
Gja10	G	A	4: 32,602,441 (GRCm39)		probably benign	Het
Gm39115	A	G	7: 141,689,360 (GRCm39)	C138R	unknown	Het
Gm7356	T	A	17: 14,221,699 (GRCm39)	Y110F	probably benign	Het
Igf2r	T	C	17: 12,952,747 (GRCm39)	K233R	probably benign	Het
Igkv9-129	A	T	6: 67,817,206 (GRCm39)	E103D	probably benign	Het
Igsf11	C	A	16: 38,827,586 (GRCm39)	T48N	probably damaging	Het
Itpkc	A	T	7: 26,913,944 (GRCm39)	Y506N	probably damaging	Het
Kat2a	A	C	11: 100,600,304 (GRCm39)	M357R	possibly damaging	Het
Kbtbd12	T	C	6: 88,595,132 (GRCm39)	R233G	possibly damaging	Het
Kcnd2	T	A	6: 21,726,197 (GRCm39)	C563*	probably null	Het
Kcnu1	T	C	8: 26,382,018 (GRCm39)	V456A	probably benign	Het
Kif24	A	G	4: 41,428,825 (GRCm39)	V45A	probably damaging	Het
Macf1	A	T	4: 123,289,414 (GRCm39)		probably benign	Het
Map3k19	T	A	1: 127,745,007 (GRCm39)	E1177D		Het
Mdn1	G	T	4: 32,725,107 (GRCm39)	L2575F	probably benign	Het
Mga	T	A	2: 119,776,800 (GRCm39)	M1569K	possibly damaging	Het
Or10al3	T	A	17: 38,012,389 (GRCm39)	M276K	probably benign	Het
Or14c44	G	T	7: 86,061,987 (GRCm39)	C139F	probably damaging	Het
Or2n1	C	A	17: 38,486,464 (GRCm39)	T163K	probably damaging	Het
Pcdhb14	T	A	18: 37,583,075 (GRCm39)	V727E	possibly damaging	Het
Pcsk7	T	G	9: 45,821,707 (GRCm39)	V167G	probably damaging	Het
Plin5	T	C	17: 56,422,221 (GRCm39)	D146G	probably benign	Het
Plxna4	C	T	6: 32,188,000 (GRCm39)	G879R	possibly damaging	Het
Prss58	C	T	6: 40,872,594 (GRCm39)	A171T	probably benign	Het
Pum1	A	G	4: 130,499,231 (GRCm39)	I1016V	probably benign	Het
Rbm43	A	G	2: 51,816,712 (GRCm39)	V85A	probably damaging	Het
Rdh16f2	T	A	10: 127,712,864 (GRCm39)	D287E	probably damaging	Het
Rptor	T	A	11: 119,702,812 (GRCm39)	L393Q	probably damaging	Het
Sbf2	T	G	7: 109,970,825 (GRCm39)	H857P	possibly damaging	Het
Scn8a	A	C	15: 100,938,387 (GRCm39)	T1919P	probably benign	Het
Sema6b	C	T	17: 56,434,084 (GRCm39)	G377E	probably damaging	Het
Senp7	T	A	16: 55,975,603 (GRCm39)	D436E	probably damaging	Het
Slc6a17	T	A	3: 107,380,901 (GRCm39)	I535F	probably benign	Het
Sptbn2	T	A	19: 4,779,158 (GRCm39)	S281T	possibly damaging	Het
Stt3b	T	C	9: 115,083,999 (GRCm39)	I392M	probably damaging	Het
Tfap2b	T	C	1: 19,296,660 (GRCm39)	V201A	possibly damaging	Het
Timm10b	T	C	7: 105,289,876 (GRCm39)		probably benign	Het
Ttc23	A	C	7: 67,312,135 (GRCm39)	D14A	probably damaging	Het
Usp32	A	T	11: 84,923,011 (GRCm39)	L636I	possibly damaging	Het
Vgll4	G	T	6: 114,867,613 (GRCm39)	H79Q	probably damaging	Het
Vps13d	A	G	4: 144,818,858 (GRCm39)	I3047T		Het
Zan	T	C	5: 137,448,813 (GRCm39)	E1680G	unknown	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
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
Z1088:Mvk	UTSW	5	114,596,995 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGGTCCAGATGCTCAGTTG -3'
(R):5'- GTGTATGCAAAACCTGGCCC -3'

Sequencing Primer
(F):5'- AGATGCTCAGTTGCCCCTC -3'
(R):5'- GGTTATCTACCCACTTCACACAGAGG -3'

Posted On

2020-07-28