Mutagenetix > Incidental Mutation

Incidental Mutation 'R1897:Vrk1'

271598

Institutional Source

Beutler Lab

Gene Symbol

Vrk1

Ensembl Gene

ENSMUSG00000021115

Gene Name

vaccinia related kinase 1

Synonyms

51PK

MMRRC Submission

039917-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.574) question?

Stock #

R1897 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105976487-106043685 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 106002799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152249 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021539] [ENSMUST00000072040] [ENSMUST00000085026] [ENSMUST00000220629] [ENSMUST00000221312] [ENSMUST00000221485]

AlphaFold

Q80X41

Predicted Effect

probably benign
Transcript: ENSMUST00000021539

SMART Domains

Protein: ENSMUSP00000021539
Gene: ENSMUSG00000021115

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	37	222	4.5e-10	PFAM
Pfam:Pkinase	37	316	2.4e-16	PFAM
low complexity region	354	366	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000072040

SMART Domains

Protein: ENSMUSP00000071922
Gene: ENSMUSG00000021115

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	37	296	8.9e-11	PFAM
Pfam:Pkinase	37	323	1.9e-19	PFAM
low complexity region	354	366	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000085026

SMART Domains

Protein: ENSMUSP00000082101
Gene: ENSMUSG00000021115

Domain	Start	End	E-Value	Type
Pfam:Pkinase	37	323	8e-19	PFAM
Pfam:Pkinase_Tyr	37	324	3.5e-10	PFAM
low complexity region	354	366	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000220629

Predicted Effect

probably benign
Transcript: ENSMUST00000221312

Predicted Effect

probably benign
Transcript: ENSMUST00000221485

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.3%
20x: 92.8%

Validation Efficiency

99% (72/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. This gene is widely expressed in human tissues and has increased expression in actively dividing cells, such as those in testis, thymus, fetal liver, and carcinomas. Its protein localizes to the nucleus and has been shown to promote the stability and nuclear accumulation of a transcriptionally active p53 molecule and, in vitro, to phosphorylate Thr18 of p53 and reduce p53 ubiquitination. This gene, therefore, may regulate cell proliferation. This protein also phosphorylates histone, casein, and the transcription factors ATF2 (activating transcription factor 2) and c-JUN. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a gene trap allele yielding nearly full-length protein levels are fertile and overtly normal. Homozygotes for a hypomorphic gene trap allele are sterile; male infertility is due to progressive loss of proliferating spermatogonia leading to lack of meiotic cells and mature sperm. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	A	G	1: 155,434,564 (GRCm39)	S61G	probably damaging	Het
Acot12	A	G	13: 91,932,516 (GRCm39)	N504S	probably benign	Het
Adcy3	C	T	12: 4,223,450 (GRCm39)		probably benign	Het
Adcyap1r1	A	T	6: 55,456,179 (GRCm39)	H168L	probably damaging	Het
Adgrd1	A	G	5: 129,206,065 (GRCm39)	E213G	probably benign	Het
Aldh1l2	G	T	10: 83,338,389 (GRCm39)	T510K	probably damaging	Het
Apol7e	A	T	15: 77,602,094 (GRCm39)	M231L	probably benign	Het
Asb1	C	A	1: 91,474,647 (GRCm39)		probably null	Het
Atf7ip2	C	T	16: 10,028,948 (GRCm39)	P160L	probably damaging	Het
Atp8a1	A	G	5: 67,895,772 (GRCm39)	L554P	probably damaging	Het
Ccdc18	A	T	5: 108,343,908 (GRCm39)	M884L	probably benign	Het
Ccdc93	A	G	1: 121,418,941 (GRCm39)	I499V	probably benign	Het
Ccl20	A	G	1: 83,095,616 (GRCm39)	D60G	probably damaging	Het
Cdhr3	T	C	12: 33,095,192 (GRCm39)	T626A	possibly damaging	Het
Cep250	A	G	2: 155,818,015 (GRCm39)	E789G	probably damaging	Het
Cmpk2	T	C	12: 26,524,046 (GRCm39)	L281P	probably damaging	Het
Col6a6	A	T	9: 105,662,943 (GRCm39)	M198K	possibly damaging	Het
Crocc	G	A	4: 140,746,047 (GRCm39)	R1691C	probably damaging	Het
Csf1	C	T	3: 107,655,595 (GRCm39)	V90M	probably damaging	Het
Cul2	T	G	18: 3,414,164 (GRCm39)	M86R	probably benign	Het
Dbndd2	T	C	2: 164,330,584 (GRCm39)	F79S	probably damaging	Het
Dkk1	G	T	19: 30,526,678 (GRCm39)	N34K	possibly damaging	Het
Dnah6	T	A	6: 73,158,745 (GRCm39)	L619F	probably benign	Het
Eif2b5	T	C	16: 20,325,787 (GRCm39)	V588A	probably damaging	Het
Elf3	A	T	1: 135,184,875 (GRCm39)	Y104N	probably damaging	Het
Fahd2a	T	C	2: 127,278,530 (GRCm39)	D272G	probably damaging	Het
Fbxw15	A	T	9: 109,387,271 (GRCm39)	C188*	probably null	Het
Fbxw8	T	C	5: 118,266,941 (GRCm39)	Y174C	probably benign	Het
Gnl1	C	A	17: 36,299,584 (GRCm39)	P585Q	possibly damaging	Het
Greb1l	T	C	18: 10,498,992 (GRCm39)	S292P	probably benign	Het
Gsk3b	G	A	16: 38,037,446 (GRCm39)		probably null	Het
Hcls1	C	T	16: 36,783,005 (GRCm39)	P452L	probably damaging	Het
Hdlbp	A	T	1: 93,350,007 (GRCm39)		probably benign	Het
Hecw1	A	G	13: 14,552,525 (GRCm39)	S25P	probably damaging	Het
Hells	T	C	19: 38,928,928 (GRCm39)	V100A	probably benign	Het
Isl1	C	T	13: 116,439,866 (GRCm39)	E161K	probably benign	Het
Klra9	G	T	6: 130,162,555 (GRCm39)	N160K	possibly damaging	Het
Lama4	T	C	10: 38,936,182 (GRCm39)	V619A	probably damaging	Het
Mpc1	G	A	17: 8,515,710 (GRCm39)	R134Q	possibly damaging	Het
Myo5c	A	T	9: 75,199,523 (GRCm39)	N1377I	probably benign	Het
Myrf	T	C	19: 10,195,596 (GRCm39)	I607V	probably benign	Het
Or2g1	T	G	17: 38,107,075 (GRCm39)	S247A	probably benign	Het
Or8g53	A	T	9: 39,683,361 (GRCm39)	I245K	probably damaging	Het
Pik3c2b	A	G	1: 132,994,654 (GRCm39)	D206G	possibly damaging	Het
Pipox	A	G	11: 77,773,568 (GRCm39)	Y228H	probably damaging	Het
Pitrm1	T	A	13: 6,610,131 (GRCm39)	V401D	possibly damaging	Het
Plod1	C	T	4: 148,010,657 (GRCm39)	E265K	probably damaging	Het
Ptpn21	A	T	12: 98,646,664 (GRCm39)		probably null	Het
Qars1	C	T	9: 108,391,282 (GRCm39)	Q7*	probably null	Het
Rpap2	T	A	5: 107,780,961 (GRCm39)	V479E	possibly damaging	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Rusc2	A	G	4: 43,421,749 (GRCm39)	Y723C	probably damaging	Het
Ryr2	A	T	13: 11,765,818 (GRCm39)	M1306K	probably benign	Het
Sesn3	A	C	9: 14,219,941 (GRCm39)	Y110S	probably damaging	Het
Sgce	C	T	6: 4,691,511 (GRCm39)	V319I	probably benign	Het
Slc15a5	G	T	6: 138,056,762 (GRCm39)	F51L	possibly damaging	Het
Slit2	T	A	5: 48,395,765 (GRCm39)	C723S	probably damaging	Het
Sncaip	A	G	18: 53,027,862 (GRCm39)		probably null	Het
Snx2	T	A	18: 53,330,950 (GRCm39)	D138E	probably damaging	Het
Spef2	A	T	15: 9,729,740 (GRCm39)	L126*	probably null	Het
Stam	T	C	2: 14,133,837 (GRCm39)	S195P	probably damaging	Het
Strn	T	C	17: 78,990,271 (GRCm39)	I82V	probably benign	Het
Synj2	T	A	17: 6,072,412 (GRCm39)	C202*	probably null	Het
Tecpr2	A	G	12: 110,899,681 (GRCm39)	D683G	probably benign	Het
Tfec	A	G	6: 16,835,307 (GRCm39)	V157A	probably damaging	Het
Tff1	T	G	17: 31,383,912 (GRCm39)	Q28P	probably benign	Het
Vmn2r86	A	G	10: 130,288,314 (GRCm39)	Y396H	probably damaging	Het
Vmn2r87	A	T	10: 130,307,829 (GRCm39)	M803K	probably damaging	Het
Vmn2r90	A	G	17: 17,953,566 (GRCm39)	K577E	probably damaging	Het
Wdr20	A	G	12: 110,760,157 (GRCm39)	T348A	probably benign	Het

Other mutations in Vrk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00547:Vrk1	APN	12	106,024,840 (GRCm39)	missense	probably damaging	1.00
IGL00639:Vrk1	APN	12	106,022,175 (GRCm39)	splice site	probably null
IGL02072:Vrk1	APN	12	106,009,144 (GRCm39)	missense	probably benign	0.04
IGL02387:Vrk1	APN	12	106,036,803 (GRCm39)	missense	probably damaging	1.00
IGL02479:Vrk1	APN	12	106,017,261 (GRCm39)	missense	probably benign	0.00
IGL02501:Vrk1	APN	12	106,028,912 (GRCm39)	missense	probably benign
IGL03211:Vrk1	APN	12	106,002,847 (GRCm39)	missense	probably benign	0.03
R0332:Vrk1	UTSW	12	106,024,884 (GRCm39)	missense	probably benign	0.05
R0790:Vrk1	UTSW	12	106,036,883 (GRCm39)	missense	probably benign
R1911:Vrk1	UTSW	12	106,024,236 (GRCm39)	critical splice donor site	probably null
R2289:Vrk1	UTSW	12	106,024,120 (GRCm39)	missense	probably damaging	1.00
R2981:Vrk1	UTSW	12	106,018,052 (GRCm39)	missense	probably damaging	1.00
R4885:Vrk1	UTSW	12	106,024,231 (GRCm39)	missense	probably damaging	1.00
R4905:Vrk1	UTSW	12	106,018,087 (GRCm39)	missense	probably damaging	1.00
R5220:Vrk1	UTSW	12	106,039,865 (GRCm39)	splice site	probably null
R5366:Vrk1	UTSW	12	106,022,078 (GRCm39)	missense	possibly damaging	0.78
R5499:Vrk1	UTSW	12	106,018,024 (GRCm39)	missense	possibly damaging	0.92
R6666:Vrk1	UTSW	12	106,024,910 (GRCm39)	missense	probably damaging	1.00
R6907:Vrk1	UTSW	12	106,041,291 (GRCm39)	missense	possibly damaging	0.90
R8154:Vrk1	UTSW	12	106,036,793 (GRCm39)	missense	probably benign	0.08
R8981:Vrk1	UTSW	12	106,036,953 (GRCm39)	intron	probably benign
R9174:Vrk1	UTSW	12	106,002,811 (GRCm39)	missense	probably benign	0.00
R9337:Vrk1	UTSW	12	106,024,957 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGATGATATGCCACTGGGACG -3'
(R):5'- CTCACCCAGATAGATGCAGC -3'

Sequencing Primer
(F):5'- ACGGACTCAACGTGCTTC -3'
(R):5'- GATGCAGCCAAAGCCACCTTG -3'

Posted On

2015-03-23