Mutagenetix > Incidental Mutation

Incidental Mutation 'R5366:Vrk1'

429362

Institutional Source

Beutler Lab

Gene Symbol

Vrk1

Ensembl Gene

ENSMUSG00000021115

Gene Name

vaccinia related kinase 1

Synonyms

51PK

MMRRC Submission

042944-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.574) question?

Stock #

R5366 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105976487-106043685 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 106022078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 131 (M131K)

Ref Sequence

ENSEMBL: ENSMUSP00000152109 (fasta)

Gene Model

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

AlphaFold

Q80X41

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021539
AA Change: M131K

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021539
Gene: ENSMUSG00000021115
AA Change: M131K

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

possibly damaging
Transcript: ENSMUST00000072040
AA Change: M131K

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000071922
Gene: ENSMUSG00000021115
AA Change: M131K

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

possibly damaging
Transcript: ENSMUST00000085026
AA Change: M131K

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000082101
Gene: ENSMUSG00000021115
AA Change: M131K

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

possibly damaging
Transcript: ENSMUST00000220629
AA Change: M131K

PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000221312
AA Change: M131K

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.9239

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

100% (77/77)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	C	12: 118,831,665 (GRCm39)	N1229S	possibly damaging	Het
Adgre1	G	A	17: 57,709,817 (GRCm39)	C158Y	probably benign	Het
Ahnak	T	A	19: 8,994,099 (GRCm39)	S5128T	possibly damaging	Het
Ankrd36	T	A	11: 5,542,841 (GRCm39)	C322*	probably null	Het
Ano1	T	A	7: 144,207,946 (GRCm39)	T113S	possibly damaging	Het
Apeh	A	T	9: 107,969,005 (GRCm39)	S321T	probably benign	Het
Atg4d	T	A	9: 21,179,948 (GRCm39)	V273D	probably damaging	Het
Cacna2d4	A	G	6: 119,251,279 (GRCm39)	D489G	probably damaging	Het
Cd47	T	C	16: 49,716,736 (GRCm39)	F256L	probably damaging	Het
Cd84	A	T	1: 171,700,872 (GRCm39)	D211V	probably damaging	Het
Cfap46	A	G	7: 139,230,802 (GRCm39)	L942P	probably damaging	Het
Cfh	A	C	1: 140,063,973 (GRCm39)	C434W	probably damaging	Het
Chst2	T	C	9: 95,287,518 (GRCm39)	D276G	probably damaging	Het
Ctsq	T	C	13: 61,184,913 (GRCm39)	T258A	probably benign	Het
Degs1	C	A	1: 182,106,927 (GRCm39)	D111Y	probably benign	Het
Dhps	T	A	8: 85,801,413 (GRCm39)	D313E	probably damaging	Het
Dipk1c	T	A	18: 84,748,720 (GRCm39)	L106Q	probably damaging	Het
Dock9	A	G	14: 121,815,615 (GRCm39)	C1645R	probably damaging	Het
Efcab7	A	C	4: 99,761,931 (GRCm39)	D407A	possibly damaging	Het
Eif3a	G	T	19: 60,767,971 (GRCm39)	T189N	probably benign	Het
Ep300	T	A	15: 81,500,301 (GRCm39)	L57M	probably benign	Het
Exoc6b	T	A	6: 84,867,513 (GRCm39)	I300L	probably benign	Het
Fzd8	T	C	18: 9,213,880 (GRCm39)	S321P	probably damaging	Het
Garre1	A	T	7: 33,941,713 (GRCm39)	M657K	possibly damaging	Het
Gm9920	T	A	15: 54,975,705 (GRCm39)		probably benign	Het
Gucy2c	A	G	6: 136,697,739 (GRCm39)	I668T	probably damaging	Het
Irgc	C	T	7: 24,132,851 (GRCm39)		probably benign	Het
Jsrp1	G	T	10: 80,646,030 (GRCm39)	S143*	probably null	Het
Kctd4	T	C	14: 76,200,259 (GRCm39)	Y77H	probably damaging	Het
Klhdc1	T	A	12: 69,329,924 (GRCm39)	I351N	probably damaging	Het
Klra17	C	T	6: 129,851,858 (GRCm39)	E5K	possibly damaging	Het
Mapk8	A	T	14: 33,112,686 (GRCm39)	V211E	probably damaging	Het
Mdn1	C	T	4: 32,723,690 (GRCm39)	P2542L	probably damaging	Het
Mrc1	T	C	2: 14,326,725 (GRCm39)	Y1208H	probably benign	Het
Mrps16	A	T	14: 20,441,523 (GRCm39)	S94T	probably benign	Het
Muc5ac	A	G	7: 141,361,287 (GRCm39)	T1533A	probably benign	Het
Myh10	A	T	11: 68,651,518 (GRCm39)	D287V	probably damaging	Het
Obscn	T	C	11: 58,971,086 (GRCm39)	T2476A	probably damaging	Het
Olfm2	T	A	9: 20,579,708 (GRCm39)	T356S	probably benign	Het
Or4f60	T	C	2: 111,902,823 (GRCm39)	Y35C	possibly damaging	Het
P2rx2	T	A	5: 110,489,694 (GRCm39)	N108I	probably damaging	Het
Pbx4	A	T	8: 70,322,820 (GRCm39)	T309S	probably benign	Het
Phyhip	C	A	14: 70,704,295 (GRCm39)	H171Q	probably benign	Het
Pou4f3	A	G	18: 42,528,819 (GRCm39)	E254G	probably damaging	Het
Pxdn	C	A	12: 30,052,899 (GRCm39)	H845Q	probably damaging	Het
Rgcc	T	C	14: 79,529,123 (GRCm39)	T111A	probably benign	Het
Rptor	G	A	11: 119,734,539 (GRCm39)	G514D	probably damaging	Het
Scara5	CG	C	14: 65,997,111 (GRCm39)		probably null	Het
Sgsm1	C	A	5: 113,398,905 (GRCm39)	E722D	possibly damaging	Het
Soat1	A	T	1: 156,272,181 (GRCm39)	D101E	probably benign	Het
Spag5	T	A	11: 78,211,152 (GRCm39)		probably null	Het
Spata31	A	T	13: 65,068,273 (GRCm39)	E140D	probably damaging	Het
Srrm2	T	A	17: 24,037,678 (GRCm39)	S1537T	probably benign	Het
Stam2	G	A	2: 52,626,305 (GRCm39)		probably benign	Het
Tbc1d4	G	T	14: 101,845,412 (GRCm39)	T162K	possibly damaging	Het
Tmem163	A	C	1: 127,428,042 (GRCm39)		probably benign	Het
Tmem43	T	C	6: 91,455,240 (GRCm39)	V72A	probably benign	Het
Tmprss11c	G	A	5: 86,429,993 (GRCm39)	T24I	possibly damaging	Het
Trerf1	A	T	17: 47,626,116 (GRCm39)		noncoding transcript	Het
Trim44	A	G	2: 102,230,476 (GRCm39)	L185P	probably damaging	Het
Tspyl1	A	G	10: 34,158,341 (GRCm39)	D22G	possibly damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tyro3	G	A	2: 119,635,312 (GRCm39)	R201Q	probably damaging	Het
Ubxn2a	T	A	12: 4,930,741 (GRCm39)	K206N	probably benign	Het
Usp17lb	G	T	7: 104,489,615 (GRCm39)	H436Q	possibly damaging	Het
Vps9d1	A	G	8: 123,971,853 (GRCm39)	I584T	possibly damaging	Het
Wdr87-ps	A	C	7: 29,232,964 (GRCm39)		noncoding transcript	Het
Zfp827	A	T	8: 79,912,333 (GRCm39)	K986N	possibly damaging	Het
Zswim4	A	G	8: 84,939,419 (GRCm39)	M821T	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
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
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'- GCAGGATGACGAAACGTTCTG -3'
(R):5'- TGCAGTACCTAACATGGCCAG -3'

Sequencing Primer
(F):5'- GGATGACGAAACGTTCTGAATTCTCG -3'
(R):5'- GTACCTAACATGGCCAGCAGAG -3'

Posted On

2016-09-06