Mutagenetix > Incidental Mutation

Incidental Mutation 'R4905:Vrk1'

378124

Institutional Source

Beutler Lab

Gene Symbol

Vrk1

Ensembl Gene

ENSMUSG00000021115

Gene Name

vaccinia related kinase 1

Synonyms

51PK

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.574) question?

Stock #

R4905 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105976487-106043685 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 106018087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 119 (H119N)

Ref Sequence

ENSEMBL: ENSMUSP00000152109 (fasta)

Gene Model

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

AlphaFold

Q80X41

Predicted Effect

probably damaging
Transcript: ENSMUST00000021539
AA Change: H119N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021539
Gene: ENSMUSG00000021115
AA Change: H119N

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 damaging
Transcript: ENSMUST00000072040
AA Change: H119N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000071922
Gene: ENSMUSG00000021115
AA Change: H119N

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 damaging
Transcript: ENSMUST00000085026
AA Change: H119N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000082101
Gene: ENSMUSG00000021115
AA Change: H119N

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 damaging
Transcript: ENSMUST00000220629
AA Change: H119N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000221312
AA Change: H119N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.5%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,448,680 (GRCm39)		probably null	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Abcc5	A	G	16: 20,218,678 (GRCm39)	S235P	probably damaging	Het
Abcc6	T	C	7: 45,644,649 (GRCm39)	N842S	probably benign	Het
Acbd6	G	A	1: 155,500,669 (GRCm39)	V210I	probably benign	Het
Ahctf1	A	T	1: 179,576,192 (GRCm39)	V2130D	probably damaging	Het
Akap5	A	G	12: 76,375,207 (GRCm39)	E213G	probably damaging	Het
Alyref	T	G	11: 120,486,879 (GRCm39)		probably null	Het
Anapc5	G	T	5: 122,955,973 (GRCm39)	N152K	probably benign	Het
Atp8b2	A	T	3: 89,856,315 (GRCm39)	D416E	probably benign	Het
AW551984	A	T	9: 39,508,454 (GRCm39)	V354E	probably damaging	Het
Bag6	A	G	17: 35,364,162 (GRCm39)	E844G	probably damaging	Het
Bmp1	C	T	14: 70,728,802 (GRCm39)	R590H	probably benign	Het
Ccnh	T	C	13: 85,354,254 (GRCm39)	S233P	possibly damaging	Het
Cdca7	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	2: 72,312,205 (GRCm39)		probably benign	Het
Col6a6	A	G	9: 105,644,623 (GRCm39)	S1222P	probably damaging	Het
Dhfr	G	A	13: 92,502,282 (GRCm39)	G118S	probably damaging	Het
Dnah9	G	A	11: 65,764,950 (GRCm39)	R1414*	probably null	Het
Dnai1	A	G	4: 41,614,269 (GRCm39)	D315G	probably benign	Het
Eogt	T	C	6: 97,119,792 (GRCm39)	R139G	probably benign	Het
Fcgbpl1	A	T	7: 27,856,408 (GRCm39)	K2065M	possibly damaging	Het
Fh1	C	T	1: 175,446,639 (GRCm39)	G79E	probably damaging	Het
Gabrg3	A	G	7: 56,374,304 (GRCm39)	Y421H	probably damaging	Het
Glipr1	C	A	10: 111,821,545 (GRCm39)	R219L	probably damaging	Het
Gm1123	T	C	9: 98,891,369 (GRCm39)	D360G	probably benign	Het
Ift81	C	T	5: 122,729,142 (GRCm39)		probably null	Het
Itsn2	A	G	12: 4,684,583 (GRCm39)		probably benign	Het
Kri1	A	T	9: 21,198,998 (GRCm39)	H55Q	probably benign	Het
Mcidas	C	T	13: 113,134,038 (GRCm39)	T174M	possibly damaging	Het
Mcidas	C	A	13: 113,130,951 (GRCm39)	A92E	possibly damaging	Het
Mmp25	C	A	17: 23,863,022 (GRCm39)	G130*	probably null	Het
Myh11	G	A	16: 14,068,387 (GRCm39)	T211M	probably benign	Het
Myo10	A	G	15: 25,800,298 (GRCm39)	D1458G	probably damaging	Het
Ncf4	A	G	15: 78,139,104 (GRCm39)	T154A	probably damaging	Het
Nfatc4	T	C	14: 56,068,039 (GRCm39)	I620T	probably benign	Het
Nos3	A	T	5: 24,572,329 (GRCm39)	Y134F	probably benign	Het
Nup50l	T	A	6: 96,142,911 (GRCm39)	R44S	possibly damaging	Het
Or13c3	T	C	4: 52,855,613 (GRCm39)	N300S	probably damaging	Het
Or51a6	A	T	7: 102,604,721 (GRCm39)	I36N	probably damaging	Het
Or5b106	C	A	19: 13,123,541 (GRCm39)	A161S	probably benign	Het
Or6c209	T	A	10: 129,483,792 (GRCm39)	V265E	possibly damaging	Het
Pax9	G	T	12: 56,743,411 (GRCm39)	R19S	probably damaging	Het
Pcdha9	T	C	18: 37,131,945 (GRCm39)	I338T	probably damaging	Het
Plxnb2	G	T	15: 89,041,614 (GRCm39)	T1730K	probably damaging	Het
Rac1	A	G	5: 143,502,907 (GRCm39)		probably null	Het
Samsn1	G	T	16: 75,673,353 (GRCm39)	F174L	possibly damaging	Het
Scaf1	G	A	7: 44,662,129 (GRCm39)	T86M	probably damaging	Het
Smc1b	A	G	15: 84,950,428 (GRCm39)	Y1199H	probably damaging	Het
Svep1	A	G	4: 58,069,308 (GRCm39)	I2826T	probably benign	Het
Tex36	A	G	7: 133,189,182 (GRCm39)	V130A	probably damaging	Het
Tigd5	A	G	15: 75,783,252 (GRCm39)	H538R	probably damaging	Het
Tlr3	C	A	8: 45,852,260 (GRCm39)		probably null	Het
Tubb2b	A	T	13: 34,312,187 (GRCm39)	I202N	probably damaging	Het
Unc13c	A	G	9: 73,587,674 (GRCm39)	V1453A	probably benign	Het
Unc5c	A	T	3: 141,507,071 (GRCm39)	T608S	probably benign	Het
Wdr53	T	A	16: 32,075,476 (GRCm39)	M227K	probably benign	Het
Xpo4	T	C	14: 57,875,746 (GRCm39)	D129G	possibly damaging	Het
Zcchc4	T	C	5: 52,953,992 (GRCm39)	I224T	probably damaging	Het
Zdhhc1	T	A	8: 106,210,326 (GRCm39)	E30D	probably damaging	Het
Zscan29	C	G	2: 120,991,864 (GRCm39)	R540T	possibly damaging	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
R1897:Vrk1	UTSW	12	106,002,799 (GRCm39)	splice site	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
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'- GGCAGTTTCAAGATAGGTAACAGC -3'
(R):5'- TTAACAGGCCCCTGACACTG -3'

Sequencing Primer
(F):5'- TTTCAAGATAGGTAACAGCAGGGTG -3'
(R):5'- CACTGTGGTGTACTGAGAACAAC -3'

Posted On

2016-04-15