Mutagenetix > Incidental Mutation

Incidental Mutation 'R8988:Nek4'

684253

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.242) question?

Stock #

R8988 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30951377-30988821 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30963967 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 279 (S279P)

Ref Sequence

ENSEMBL: ENSMUSP00000057915 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050171] [ENSMUST00000226551] [ENSMUST00000226833] [ENSMUST00000228328]

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000057915
Gene: ENSMUSG00000021918
AA Change: S279P

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

probably damaging
Transcript: ENSMUST00000226551
AA Change: S286P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000226833

Predicted Effect

probably benign
Transcript: ENSMUST00000228328
AA Change: S286P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

96% (81/84)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	A	G	3: 88,699,979	N330S	probably benign	Het
Abi2	C	T	1: 60,450,092	T291I	probably benign	Het
Aox1	A	C	1: 58,049,466	D137A	possibly damaging	Het
Apbb2	T	C	5: 66,452,101	K68E	probably damaging	Het
Arf3	A	T	15: 98,741,052	M108K	probably benign	Het
Atg2b	T	A	12: 105,617,129	I2058F	probably damaging	Het
Bhlhe40	C	T	6: 108,662,557	L99F	probably damaging	Het
Cyp2b10	G	A	7: 25,926,245	R500H	probably damaging	Het
Dlc1	C	T	8: 36,572,843	E937K	probably damaging	Het
Dll3	A	T	7: 28,296,368	V336D	possibly damaging	Het
Dync2h1	A	G	9: 7,037,727	F3377L	probably benign	Het
Eef1d	A	G	15: 75,896,311	Y561H	probably damaging	Het
Epb41l1	C	A	2: 156,521,671	T700K	probably benign	Het
Epha8	G	T	4: 136,938,586	L420M	probably damaging	Het
Ephb2	C	A	4: 136,675,458	G501C	probably benign	Het
Erbb3	T	C	10: 128,570,161	Y1129C	probably damaging	Het
Fbn1	C	T	2: 125,370,806	V799M	possibly damaging	Het
Fbxo9	G	A	9: 78,084,651	P353S	probably benign	Het
Ggt1	T	G	10: 75,576,222	V100G	probably benign	Het
Gm11639	T	G	11: 105,020,526	V4544G	probably benign	Het
Gm45861	T	C	8: 27,542,503	M885T	unknown	Het
Gm609	T	C	16: 45,417,908	H294R	probably benign	Het
Grin2d	A	T	7: 45,834,001	Y917*	probably null	Het
Hectd4	T	A	5: 121,277,756	V540D	possibly damaging	Het
Helz	T	A	11: 107,604,253	I351K	probably damaging	Het
Ighv2-6-8	A	G	12: 113,796,360	V43A	probably damaging	Het
Igkv9-129	T	A	6: 67,840,122	I70N	probably damaging	Het
Il18	A	T	9: 50,577,878	D69V	probably damaging	Het
Kcnh7	T	A	2: 62,721,865	E927D		Het
Kcnt2	T	A	1: 140,428,849	V342E	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
Krt18	C	G	15: 102,029,527	A153G	probably damaging	Het
Lmntd2	A	T	7: 141,212,064		probably benign	Het
Lrrc26	G	T	2: 25,290,274	A96S	probably benign	Het
Map3k11	A	T	19: 5,702,138	S783C	probably damaging	Het
Mib2	G	A	4: 155,656,272	L632F	possibly damaging	Het
Mical2	A	C	7: 112,311,454	D277A	possibly damaging	Het
Mtr	A	T	13: 12,235,479	F339L	probably benign	Het
Musk	T	C	4: 58,354,032	F362L	probably benign	Het
Ncor1	G	A	11: 62,343,045	Q444*	probably null	Het
Nell1	C	T	7: 50,560,795	T348I	unknown	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Nrip1	T	C	16: 76,292,014	H885R	probably damaging	Het
Olfr1382	C	A	11: 49,535,201	N5K	probably damaging	Het
Olfr214	A	G	6: 116,557,294	T290A	possibly damaging	Het
Olfr448	T	A	6: 42,897,267	V272D		Het
Olfr525	G	A	7: 140,323,025	G109R	possibly damaging	Het
Olfr784	T	C	10: 129,388,371	V246A	probably damaging	Het
Olfr822	T	A	10: 130,074,653	V81D	possibly damaging	Het
Otog	A	G	7: 46,310,147	D720G	probably damaging	Het
P3h3	C	A	6: 124,857,601	Q29H	possibly damaging	Het
Parn	A	G	16: 13,648,417		probably null	Het
Pcnt	C	A	10: 76,409,573	E1077*	probably null	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398		probably benign	Het
Pigb	A	G	9: 73,022,294	W336R	probably damaging	Het
Pkdrej	A	T	15: 85,816,337	S1799R	probably damaging	Het
Pnpla6	G	T	8: 3,517,401	M86I	possibly damaging	Het
Prickle2	T	C	6: 92,458,639	K50E	possibly damaging	Het
Psg21	A	G	7: 18,652,464	V199A	probably benign	Het
Reep3	T	C	10: 67,036,007		probably null	Het
Reln	T	C	5: 21,899,157	D3272G	probably damaging	Het
Rps6ka4	A	G	19: 6,831,299	V526A	possibly damaging	Het
Sel1l3	T	C	5: 53,123,429	E911G	probably damaging	Het
Serpinb6b	C	A	13: 32,978,142	A308E	probably benign	Het
Slc26a4	A	G	12: 31,522,524	V746A	probably benign	Het
Slc4a3	T	G	1: 75,551,313	M402R	probably damaging	Het
Slc9b1	A	T	3: 135,373,139	T186S	possibly damaging	Het
Slk	A	G	19: 47,620,273	Q555R	probably benign	Het
Smc2	T	A	4: 52,475,100	D925E	probably benign	Het
Stat5a	A	T	11: 100,883,938	T758S	unknown	Het
Sulf1	A	G	1: 12,836,275	S514G	probably benign	Het
Tcp11l1	T	A	2: 104,706,508	N4I	probably damaging	Het
Tex2	A	T	11: 106,511,905	I1047K	unknown	Het
Tmem184b	A	G	15: 79,377,064	V114A	possibly damaging	Het
Trmt11	A	G	10: 30,591,031	V95A	probably benign	Het
Trp53bp2	A	G	1: 182,440,868	D169G	possibly damaging	Het
Ttc41	T	A	10: 86,713,735	N264K	possibly damaging	Het
Uba2	A	C	7: 34,154,562	S318R	probably benign	Het
Wapl	T	A	14: 34,729,182	N724K	probably damaging	Het
Wfdc9	T	A	2: 164,651,751	I5F	probably damaging	Het
Zan	C	T	5: 137,408,301	D3686N	unknown	Het
Zfp618	A	T	4: 63,094,471	Y140F	probably benign	Het
Zfp790	A	G	7: 29,828,168	T93A	probably benign	Het
Zfp979	A	C	4: 147,613,527	F242V	probably benign	Het

Other mutations in Nek4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01124:Nek4	APN	14	30970262	missense	probably benign	0.00
IGL01746:Nek4	APN	14	30977584	splice site	probably null
IGL02403:Nek4	APN	14	30964051	nonsense	probably null
IGL02606:Nek4	APN	14	30963959	missense	probably benign	0.01
IGL03261:Nek4	APN	14	30975290	missense	probably benign	0.05
R0266:Nek4	UTSW	14	30957296	missense	probably damaging	1.00
R0436:Nek4	UTSW	14	30970472	missense	probably damaging	0.96
R0520:Nek4	UTSW	14	30959306	splice site	probably benign
R0523:Nek4	UTSW	14	30980038	missense	probably benign	0.18
R0849:Nek4	UTSW	14	30957296	missense	probably damaging	1.00
R1167:Nek4	UTSW	14	30974345	missense	possibly damaging	0.68
R1465:Nek4	UTSW	14	30956887	missense	probably damaging	1.00
R1465:Nek4	UTSW	14	30956887	missense	probably damaging	1.00
R1484:Nek4	UTSW	14	30982333	missense	possibly damaging	0.56
R1563:Nek4	UTSW	14	30982451	missense	probably damaging	1.00
R1616:Nek4	UTSW	14	30987137	missense	probably damaging	0.98
R1670:Nek4	UTSW	14	30982427	missense	probably damaging	1.00
R1991:Nek4	UTSW	14	30956953	missense	probably damaging	0.98
R2045:Nek4	UTSW	14	30953923	missense	probably damaging	1.00
R2157:Nek4	UTSW	14	30979968	splice site	probably null
R2925:Nek4	UTSW	14	30951710	missense	probably benign	0.29
R4342:Nek4	UTSW	14	30953906	missense	probably damaging	1.00
R5964:Nek4	UTSW	14	30957079	critical splice donor site	probably null
R6030:Nek4	UTSW	14	30956933	missense	probably damaging	1.00
R6030:Nek4	UTSW	14	30956933	missense	probably damaging	1.00
R6171:Nek4	UTSW	14	30970347	missense	probably benign	0.01
R7145:Nek4	UTSW	14	30982348	missense	probably damaging	0.96
R7286:Nek4	UTSW	14	30957292	missense	probably damaging	1.00
R8098:Nek4	UTSW	14	30963951	missense	probably benign	0.03
R8300:Nek4	UTSW	14	30970395	missense
R8397:Nek4	UTSW	14	30970548	missense	possibly damaging	0.77
R8481:Nek4	UTSW	14	30964034	missense	probably damaging	0.97
R8962:Nek4	UTSW	14	30953958	missense	probably damaging	1.00
R9003:Nek4	UTSW	14	30982514	missense	probably benign	0.09
R9531:Nek4	UTSW	14	30970350	missense	probably benign	0.01
R9608:Nek4	UTSW	14	30953947	missense	probably damaging	0.99
R9748:Nek4	UTSW	14	30987157	missense	possibly damaging	0.63
R9777:Nek4	UTSW	14	30984444	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- TGTGGACAAGCCTAGTCTCTG -3'
(R):5'- TGGCAGCCTACTGTAGATAAAGTG -3'

Sequencing Primer
(F):5'- GGACAAGCCTAGTCTCTGTAAATGC -3'
(R):5'- CGGAAGGAACTGCATAATGATCTC -3'

Posted On

2021-10-11