Mutagenetix > Incidental Mutation

Incidental Mutation 'R8098:Nek4'

630350

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 #

R8098 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30951377-30988821 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30963951 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 273 (N273K)

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

probably benign
Transcript: ENSMUST00000050171
AA Change: N273K

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000057915
Gene: ENSMUSG00000021918
AA Change: N273K

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: ENSMUST00000226146
AA Change: N148K

PolyPhen 2 Score 0.603 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226551
AA Change: N280K

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000226833

Predicted Effect

probably benign
Transcript: ENSMUST00000228328
AA Change: N280K

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.4%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	A	T	18: 57,667,331	I185L	probably benign	Het
3425401B19Rik	A	G	14: 32,662,661	L449P	probably damaging	Het
4931440F15Rik	A	G	11: 29,824,450	S336P	possibly damaging	Het
Abca15	A	G	7: 120,361,396	S694G	probably benign	Het
Abcc6	A	G	7: 45,996,665	L800P	probably damaging	Het
Adam15	T	A	3: 89,343,886	D504V	probably damaging	Het
Adnp	T	C	2: 168,182,532	T948A	probably benign	Het
Akap11	T	C	14: 78,512,922	D675G		Het
Atp13a3	A	C	16: 30,354,297	V254G	possibly damaging	Het
Atp1a1	A	G	3: 101,582,049	I749T	probably damaging	Het
B3glct	T	A	5: 149,750,500	Y369*	probably null	Het
Bms1	C	T	6: 118,384,258	R1204H	probably damaging	Het
Btla	T	A	16: 45,244,249	L188*	probably null	Het
Btn2a2	A	G	13: 23,481,888	V258A	probably benign	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Cacna1g	T	C	11: 94,416,512	H1782R	probably benign	Het
Calcoco1	T	C	15: 102,716,324	D172G	probably benign	Het
Ciart	G	A	3: 95,881,344	P61L	probably damaging	Het
Ckap4	A	G	10: 84,533,635	S78P	probably damaging	Het
Col6a3	A	T	1: 90,803,661	D1623E	probably benign	Het
Col7a1	A	G	9: 108,956,695	T411A	unknown	Het
Cpt1a	A	C	19: 3,370,849	I436L	probably benign	Het
Cyp2c23	T	A	19: 44,015,803	I173F	probably benign	Het
Dcun1d2	T	C	8: 13,261,396	T198A	probably benign	Het
Ddx50	A	C	10: 62,625,143		probably null	Het
Depdc1b	A	G	13: 108,324,059	T68A	probably damaging	Het
Dgkq	G	A	5: 108,652,468	R546W	probably damaging	Het
Dmbt1	G	A	7: 131,108,459	W1493*	probably null	Het
Dnah17	A	G	11: 118,050,367	S3219P	probably damaging	Het
E430018J23Rik	C	T	7: 127,393,324	C38Y	probably null	Het
Egf	T	A	3: 129,690,837	Y986F	probably benign	Het
Ell3	TCTCCTC	TCTC	2: 121,439,456		probably benign	Het
Ep400	A	T	5: 110,693,251	M1805K	unknown	Het
Exoc3	A	G	13: 74,172,152	M730T	probably benign	Het
Fbxl13	T	A	5: 21,620,718	M129L	probably benign	Het
Gins4	T	A	8: 23,237,021	M19L	probably benign	Het
Gm3238	T	C	10: 77,770,640	N229S	unknown	Het
Gpd2	T	A	2: 57,290,008	V89D	possibly damaging	Het
Hectd4	G	A	5: 121,321,398	V777I	possibly damaging	Het
Hgf	T	A	5: 16,561,061	V65E	probably benign	Het
Hnrnpdl	A	G	5: 100,037,920	S169P	probably benign	Het
Igfbp3	T	C	11: 7,210,104	D183G	possibly damaging	Het
Il16	A	G	7: 83,646,559	V1134A	probably damaging	Het
Kcnn4	A	G	7: 24,384,079	D395G	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,436,913		probably benign	Het
Kif13a	T	C	13: 46,815,304	N354S	probably damaging	Het
Lrp1	C	T	10: 127,574,455	R1474Q	possibly damaging	Het
Map3k9	T	C	12: 81,734,114	Q424R	probably damaging	Het
Mkx	A	C	18: 6,992,784	S167A	possibly damaging	Het
Ms4a14	A	G	19: 11,304,615	F193S	possibly damaging	Het
Myo18a	A	T	11: 77,845,401	D1508V	probably damaging	Het
Nipal3	A	T	4: 135,452,398	V403D	possibly damaging	Het
Nlrp6	G	A	7: 140,923,255	V425M	probably damaging	Het
Olfr1228	T	A	2: 89,249,308	M117L	possibly damaging	Het
Olfr127	A	G	17: 37,904,359	D271G	probably damaging	Het
Olfr1342	A	T	4: 118,690,209	V81E	possibly damaging	Het
Olfr825	T	C	10: 130,163,047	K93R	probably benign	Het
Otub1	A	T	19: 7,204,429	D27E	probably damaging	Het
Pcnx2	T	C	8: 125,768,301	D1607G	probably damaging	Het
Pde2a	A	G	7: 101,421,971	Y16C	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Prph2	A	T	17: 46,919,966	M262L	probably benign	Het
Pxdn	C	T	12: 30,006,602	L1271F	probably damaging	Het
Rnf10	A	C	5: 115,251,379	I243S	probably damaging	Het
Samd9l	T	C	6: 3,375,549	I571V	probably damaging	Het
Scube1	C	T	15: 83,659,088	G183D	probably damaging	Het
Sidt2	A	G	9: 45,945,730	V426A	probably benign	Het
Slc20a1	T	C	2: 129,209,121	L566P	probably damaging	Het
Slc22a3	A	G	17: 12,423,732		probably null	Het
Snx11	G	T	11: 96,770,674	S168R	probably benign	Het
Snx5	T	C	2: 144,255,562	N218D	probably benign	Het
Snx7	A	T	3: 117,838,934	D169E	probably benign	Het
Soat1	A	G	1: 156,446,610	L77P	probably damaging	Het
Sucnr1	T	A	3: 60,086,741	V230E	probably damaging	Het
Supv3l1	T	C	10: 62,429,503	K753E	probably benign	Het
Tango6	T	G	8: 106,742,358	L829V	possibly damaging	Het
Tek	T	C	4: 94,827,670	V443A	probably benign	Het
Tet1	A	T	10: 62,879,080	L312Q	probably damaging	Het
Tgm1	A	T	14: 55,710,534	N269K	probably damaging	Het
Thrb	A	T	14: 18,008,645	D168V	probably damaging	Het
Tk2	C	T	8: 104,231,172	V181I	probably benign	Het
Tm6sf2	T	C	8: 70,074,322	L47P	probably damaging	Het
Tmcc3	T	A	10: 94,579,216	M291K	probably benign	Het
Tnfrsf21	A	G	17: 43,039,899	E318G	probably benign	Het
Ttc7	T	C	17: 87,334,328	V451A	probably benign	Het
Ugt2b36	A	T	5: 87,092,393	D44E	probably benign	Het
Usp17la	G	T	7: 104,860,931	V248L	probably damaging	Het
Utp20	A	C	10: 88,752,948	I2453S	probably benign	Het
Wdr91	A	T	6: 34,886,882	I566N	possibly damaging	Het
Zfp282	A	G	6: 47,890,718	D276G	probably benign	Het
Zfp866	T	C	8: 69,765,978	K331E	probably benign	Het
Zkscan17	A	T	11: 59,503,584	W64R	possibly damaging	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
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
R8988:Nek4	UTSW	14	30963967	missense
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'- GAAGATAGATGATTTAGAAAATGCCCC -3'
(R):5'- CTCTAGAAAAGCACAGTCATTTGC -3'

Sequencing Primer
(F):5'- TTAGAAAATGCCCCCTAGGTGTG -3'
(R):5'- ACCGTTCACTTGAATGAGCTG -3'

Posted On

2020-06-30