Mutagenetix > Incidental Mutation

Incidental Mutation 'R7145:Nek4'

553736

Institutional Source

Beutler Lab

Gene Symbol

Nek4

Ensembl Gene

ENSMUSG00000021918

Gene Name

NIMA (never in mitosis gene a)-related expressed kinase 4

Synonyms

MMRRC Submission

045223-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.321) question?

Stock #

R7145 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30951377-30988821 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 30982348 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 607 (Q607K)

Ref Sequence

ENSEMBL: ENSMUSP00000057915 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050171] [ENSMUST00000226551] [ENSMUST00000228328]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000050171
AA Change: Q607K

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000057915
Gene: ENSMUSG00000021918
AA Change: Q607K

Domain	Start	End	E-Value	Type
S_TKc	6	261	6.93e-91	SMART
low complexity region	429	439	N/A	INTRINSIC
low complexity region	627	647	N/A	INTRINSIC
low complexity region	751	767	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226551
AA Change: Q614K

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228328
AA Change: Q662K

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serine/threonine protein kinase required for normal entry into replicative senescence. The encoded protein also is involved in cell cycle arrest in response to double-stranded DNA damage. Finally, this protein plays a role in maintaining cilium integrity, and defects in this gene have been associated with ciliopathies. [provided by RefSeq, Jan 2017]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,070,059	Y1670H	probably damaging	Het
Abca12	T	C	1: 71,307,053	K886R	possibly damaging	Het
Adcy3	G	A	12: 4,200,992	E584K	probably benign	Het
Ano3	A	T	2: 110,862,860	V131D	probably benign	Het
Arhgdig	C	T	17: 26,199,363	W215*	probably null	Het
Cad	G	T	5: 31,067,612	W953L	possibly damaging	Het
Calhm2	T	C	19: 47,135,641	Y88C	probably benign	Het
Cdk5rap2	A	T	4: 70,238,231	D1681E	probably benign	Het
Cenpl	T	A	1: 161,082,912	L143H	possibly damaging	Het
Cherp	T	C	8: 72,468,386	K270E		Het
Cmss1	A	G	16: 57,311,355	I136T	probably benign	Het
Col23a1	T	C	11: 51,565,223		probably null	Het
Crnn	C	A	3: 93,148,382	D158E	probably damaging	Het
Dnmt3a	A	T	12: 3,872,844	Q149L	probably benign	Het
Dst	T	A	1: 34,189,882	N2185K	probably benign	Het
Elp2	T	A	18: 24,604,069	N25K	probably benign	Het
Ephb4	A	T	5: 137,372,046	D845V	probably damaging	Het
Esyt3	T	C	9: 99,319,574	T561A	probably damaging	Het
F3	G	T	3: 121,731,586	V159L	probably damaging	Het
Fam81a	A	T	9: 70,110,278	D128E	probably damaging	Het
Flot1	T	G	17: 35,824,943	H155Q	probably benign	Het
Fut9	T	A	4: 25,620,507	K102N	probably damaging	Het
Gm16368	G	T	12: 88,083,827	C44F	probably benign	Het
Gm6309	T	C	5: 146,170,290	Q82R	possibly damaging	Het
H13	A	G	2: 152,681,072	N102D	probably damaging	Het
Lamc2	C	G	1: 153,130,772	A878P	possibly damaging	Het
Lepr	C	T	4: 101,752,197	T327I	probably benign	Het
Lrp2	A	G	2: 69,454,808		probably null	Het
Ly86	A	G	13: 37,377,010	K116E	probably damaging	Het
Mapk8ip2	T	A	15: 89,458,998	F648I	possibly damaging	Het
Muc16	G	A	9: 18,655,580	T1881I	unknown	Het
Myh13	T	G	11: 67,354,740	S1069A	probably benign	Het
Myh4	T	A	11: 67,260,228	I1903N	possibly damaging	Het
Myo18b	A	T	5: 112,817,679	L1341*	probably null	Het
Naa25	G	T	5: 121,417,489		probably null	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Ncapg	C	T	5: 45,670,030	A3V	possibly damaging	Het
Ncln	T	C	10: 81,488,252	H481R	probably benign	Het
Neo1	T	C	9: 58,889,179	Y1182C	probably damaging	Het
Npnt	T	C	3: 132,909,931	N165S	probably benign	Het
Olfr1076	T	C	2: 86,508,528	L23P	probably damaging	Het
Olfr1184	C	T	2: 88,487,377	S215L	probably damaging	Het
Olfr145	A	G	9: 37,897,563	H53R	probably benign	Het
Olfr167	C	G	16: 19,514,899	V246L	probably damaging	Het
Otulin	T	C	15: 27,608,770	Y229C	probably damaging	Het
Palld	A	T	8: 61,532,017	D1071E	unknown	Het
Pcdhb20	T	C	18: 37,505,089	S223P	probably damaging	Het
Pcdhga6	T	A	18: 37,707,728	I167N	probably damaging	Het
Pcdhgb4	A	G	18: 37,721,790	N413D	probably benign	Het
Pcdhgb8	T	A	18: 37,762,997	Y373*	probably null	Het
Plxna2	G	T	1: 194,649,522	V419L	probably benign	Het
Rpgrip1l	A	T	8: 91,232,806		probably null	Het
Rsrc2	A	G	5: 123,739,567		probably benign	Het
Scaper	C	T	9: 55,912,111	D107N	unknown	Het
Scgb2b3	T	A	7: 31,360,148	Y67F	probably benign	Het
Scn5a	G	A	9: 119,486,371	T1757I	probably damaging	Het
Sgo2b	G	A	8: 63,928,184	P538L	probably damaging	Het
Slc9a3	A	G	13: 74,150,678	K72R	probably damaging	Het
Smchd1	T	A	17: 71,378,207	T1409S	probably benign	Het
Stab1	A	T	14: 31,145,073		probably null	Het
Sult2b1	T	C	7: 45,733,632	E242G	probably damaging	Het
Tcaf1	A	T	6: 42,686,753	H64Q	probably damaging	Het
Tle6	T	C	10: 81,600,076	T2A	possibly damaging	Het
Tmem115	T	C	9: 107,535,086	V203A	probably benign	Het
Tmem45b	G	A	9: 31,429,041	T108I	probably damaging	Het
Tmf1	A	T	6: 97,176,118	D331E	probably damaging	Het
Txndc9	T	C	1: 37,990,296	Y157C	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r27	C	A	6: 124,191,752	R806S	probably benign	Het
Vmn2r59	G	A	7: 42,045,764	A408V	probably damaging	Het
Ythdc1	T	C	5: 86,816,608	V92A	probably benign	Het

Other mutations in Nek4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01124:Nek4	APN	14	30,970,262 (GRCm38)	missense	probably benign	0.00
IGL01746:Nek4	APN	14	30,977,584 (GRCm38)	splice site	probably null
IGL02403:Nek4	APN	14	30,964,051 (GRCm38)	nonsense	probably null
IGL02606:Nek4	APN	14	30,963,959 (GRCm38)	missense	probably benign	0.01
IGL03261:Nek4	APN	14	30,975,290 (GRCm38)	missense	probably benign	0.05
R0266:Nek4	UTSW	14	30,957,296 (GRCm38)	missense	probably damaging	1.00
R0436:Nek4	UTSW	14	30,970,472 (GRCm38)	missense	probably damaging	0.96
R0520:Nek4	UTSW	14	30,959,306 (GRCm38)	splice site	probably benign
R0523:Nek4	UTSW	14	30,980,038 (GRCm38)	missense	probably benign	0.18
R0849:Nek4	UTSW	14	30,957,296 (GRCm38)	missense	probably damaging	1.00
R1167:Nek4	UTSW	14	30,974,345 (GRCm38)	missense	possibly damaging	0.68
R1465:Nek4	UTSW	14	30,956,887 (GRCm38)	missense	probably damaging	1.00
R1465:Nek4	UTSW	14	30,956,887 (GRCm38)	missense	probably damaging	1.00
R1484:Nek4	UTSW	14	30,982,333 (GRCm38)	missense	possibly damaging	0.56
R1563:Nek4	UTSW	14	30,982,451 (GRCm38)	missense	probably damaging	1.00
R1616:Nek4	UTSW	14	30,987,137 (GRCm38)	missense	probably damaging	0.98
R1670:Nek4	UTSW	14	30,982,427 (GRCm38)	missense	probably damaging	1.00
R1991:Nek4	UTSW	14	30,956,953 (GRCm38)	missense	probably damaging	0.98
R2045:Nek4	UTSW	14	30,953,923 (GRCm38)	missense	probably damaging	1.00
R2157:Nek4	UTSW	14	30,979,968 (GRCm38)	splice site	probably null
R2925:Nek4	UTSW	14	30,951,710 (GRCm38)	missense	probably benign	0.29
R4342:Nek4	UTSW	14	30,953,906 (GRCm38)	missense	probably damaging	1.00
R5964:Nek4	UTSW	14	30,957,079 (GRCm38)	critical splice donor site	probably null
R6030:Nek4	UTSW	14	30,956,933 (GRCm38)	missense	probably damaging	1.00
R6030:Nek4	UTSW	14	30,956,933 (GRCm38)	missense	probably damaging	1.00
R6171:Nek4	UTSW	14	30,970,347 (GRCm38)	missense	probably benign	0.01
R7286:Nek4	UTSW	14	30,957,292 (GRCm38)	missense	probably damaging	1.00
R8098:Nek4	UTSW	14	30,963,951 (GRCm38)	missense	probably benign	0.03
R8300:Nek4	UTSW	14	30,970,395 (GRCm38)	missense
R8397:Nek4	UTSW	14	30,970,548 (GRCm38)	missense	possibly damaging	0.77
R8481:Nek4	UTSW	14	30,964,034 (GRCm38)	missense	probably damaging	0.97
R8962:Nek4	UTSW	14	30,953,958 (GRCm38)	missense	probably damaging	1.00
R8988:Nek4	UTSW	14	30,963,967 (GRCm38)	missense
R9003:Nek4	UTSW	14	30,982,514 (GRCm38)	missense	probably benign	0.09
R9531:Nek4	UTSW	14	30,970,350 (GRCm38)	missense	probably benign	0.01
R9608:Nek4	UTSW	14	30,953,947 (GRCm38)	missense	probably damaging	0.99
R9748:Nek4	UTSW	14	30,987,157 (GRCm38)	missense	possibly damaging	0.63
R9777:Nek4	UTSW	14	30,984,444 (GRCm38)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- ACTGCCTTCCTGTAGATGCC -3'
(R):5'- GCACTAGGCTTGTTCTCCAC -3'

Sequencing Primer
(F):5'- AGATGCCTTTTGTATTTTACCAGG -3'
(R):5'- GGCTGGGAAAGAATAAACTACTCACC -3'

Posted On

2019-05-15