Mutagenetix > Incidental Mutation

Incidental Mutation 'R0332:Vrk1'

35941

Institutional Source

Beutler Lab

Gene Symbol

Vrk1

Ensembl Gene

ENSMUSG00000021115

Gene Name

vaccinia related kinase 1

Synonyms

51PK

MMRRC Submission

038541-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.588) question?

Stock #

R0332 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

105976487-106043685 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 106024884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 253 (Q253H)

Ref Sequence

ENSEMBL: ENSMUSP00000152109 (fasta)

Gene Model

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

AlphaFold

Q80X41

Predicted Effect

probably benign
Transcript: ENSMUST00000021539
AA Change: Q253H

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000021539
Gene: ENSMUSG00000021115
AA Change: Q253H

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
AA Change: Q253H

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000071922
Gene: ENSMUSG00000021115
AA Change: Q253H

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
AA Change: Q253H

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000082101
Gene: ENSMUSG00000021115
AA Change: Q253H

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
AA Change: Q253H

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000221312
AA Change: Q253H

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

100% (63/63)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aggf1	T	C	13: 95,505,954 (GRCm39)	E211G	probably damaging	Het
Aox3	A	G	1: 58,181,910 (GRCm39)	N299S	probably benign	Het
Arhgef7	T	A	8: 11,874,701 (GRCm39)	Y777*	probably null	Het
Atad1	A	G	19: 32,679,934 (GRCm39)		probably benign	Het
Bltp3a	T	C	17: 28,112,268 (GRCm39)		probably null	Het
Bop1	A	G	15: 76,340,187 (GRCm39)	Y130H	probably damaging	Het
Ccar2	G	T	14: 70,379,384 (GRCm39)		probably benign	Het
Ccdc110	G	T	8: 46,396,001 (GRCm39)	E631*	probably null	Het
Cfap54	C	T	10: 92,871,319 (GRCm39)	D634N	probably damaging	Het
Cldn8	C	T	16: 88,359,246 (GRCm39)		silent	Het
Cstf3	G	T	2: 104,476,812 (GRCm39)		probably null	Het
Dgkq	T	C	5: 108,802,965 (GRCm39)		probably benign	Het
Dsp	T	A	13: 38,366,204 (GRCm39)	L546*	probably null	Het
Eif3g	A	T	9: 20,809,280 (GRCm39)		probably benign	Het
Fam228a	T	A	12: 4,785,018 (GRCm39)	I38F	probably damaging	Het
Fto	A	T	8: 92,128,518 (GRCm39)		probably benign	Het
Gcnt4	G	T	13: 97,083,018 (GRCm39)	V105L	probably benign	Het
Gm10644	A	G	8: 84,660,210 (GRCm39)	L45S	possibly damaging	Het
Gm7275	A	T	16: 47,894,132 (GRCm39)		noncoding transcript	Het
Gm7579	T	C	7: 141,766,112 (GRCm39)	S173P	unknown	Het
Gpatch8	T	C	11: 102,372,668 (GRCm39)	N290S	unknown	Het
Grep1	A	T	17: 23,933,578 (GRCm39)		probably benign	Het
Hspb8	T	A	5: 116,547,532 (GRCm39)	D150V	probably damaging	Het
Ifitm1	T	C	7: 140,548,366 (GRCm39)		probably benign	Het
Ifnl2	T	C	7: 28,208,756 (GRCm39)	T99A	possibly damaging	Het
Ints4	T	C	7: 97,166,925 (GRCm39)	L577P	probably damaging	Het
Jph4	T	C	14: 55,351,467 (GRCm39)	E183G	possibly damaging	Het
Loxhd1	T	A	18: 77,471,526 (GRCm39)		probably null	Het
Mug1	G	A	6: 121,826,856 (GRCm39)		probably null	Het
Nlrp2	C	A	7: 5,320,629 (GRCm39)	C836F	probably damaging	Het
Nup210l	G	T	3: 90,039,616 (GRCm39)		probably benign	Het
Optn	C	T	2: 5,028,926 (GRCm39)	G526R	probably damaging	Het
Or51h1	A	T	7: 102,308,672 (GRCm39)	I215F	probably damaging	Het
Or7e178	A	G	9: 20,225,352 (GRCm39)	L288S	probably benign	Het
Phykpl	A	G	11: 51,477,502 (GRCm39)	E98G	probably benign	Het
Pikfyve	A	G	1: 65,303,558 (GRCm39)	N1648D	probably benign	Het
Plppr5	A	T	3: 117,465,581 (GRCm39)	R277S	probably benign	Het
Ppp1r36	T	A	12: 76,474,677 (GRCm39)	F86L	probably benign	Het
Ptgis	A	T	2: 167,056,753 (GRCm39)	L278Q	probably damaging	Het
Rasa2	A	T	9: 96,488,229 (GRCm39)	F90Y	probably damaging	Het
Setd3	T	C	12: 108,073,838 (GRCm39)	K480E	probably benign	Het
Slc66a1	C	T	4: 139,027,610 (GRCm39)	S244N	possibly damaging	Het
Snx2	T	C	18: 53,345,983 (GRCm39)	F389L	probably benign	Het
Sulf2	G	A	2: 165,931,119 (GRCm39)	T296M	probably benign	Het
Supt16	A	T	14: 52,418,614 (GRCm39)	H214Q	probably damaging	Het
Tbx4	A	T	11: 85,789,356 (GRCm39)	M12L	probably benign	Het
Tlk1	A	T	2: 70,575,909 (GRCm39)		probably null	Het
Tmprss7	C	T	16: 45,501,001 (GRCm39)	V267M	probably benign	Het
Tmub2	G	A	11: 102,179,174 (GRCm39)	R291H	probably damaging	Het
Trpm2	A	T	10: 77,783,822 (GRCm39)	V217E	probably damaging	Het
Try10	T	A	6: 41,331,154 (GRCm39)	V10E	probably benign	Het
Ttn	A	G	2: 76,596,226 (GRCm39)	V20229A	probably benign	Het
Ttn	A	C	2: 76,608,538 (GRCm39)		probably null	Het
Usf2	T	A	7: 30,654,604 (GRCm39)	M199L	possibly damaging	Het
Usp37	A	T	1: 74,534,869 (GRCm39)	S26T	possibly damaging	Het
Wdr72	A	T	9: 74,064,534 (GRCm39)		probably null	Het
Xrra1	T	C	7: 99,525,449 (GRCm39)	F123L	probably damaging	Het
Zfhx3	T	C	8: 109,673,255 (GRCm39)	I1435T	probably damaging	Het
Zfp712	T	A	13: 67,188,877 (GRCm39)	H550L	probably 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
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
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'- GGTTTGTTTTACACAGCCCACTGTTCA -3'
(R):5'- AGAATCTGTGCCTCCCTCACCA -3'

Sequencing Primer
(F):5'- GTTCAGTGATTTTATTATACGCAGGC -3'
(R):5'- aaggagagggggagataagtag -3'

Posted On

2013-05-09