Mutagenetix > Incidental Mutation

Incidental Mutation 'R6030:Nek4'

486228

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

044202-MU

Accession Numbers

Essential gene?

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

Stock #

R6030 (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 C at 30956933 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 138 (F138S)

Ref Sequence

ENSEMBL: ENSMUSP00000154090 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000050171
AA Change: F131S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000057915
Gene: ENSMUSG00000021918
AA Change: F131S

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

unknown
Transcript: ENSMUST00000226146
AA Change: F6S

Predicted Effect

probably damaging
Transcript: ENSMUST00000226551
AA Change: F138S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000226833
AA Change: F138S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227199

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227602

Predicted Effect

probably damaging
Transcript: ENSMUST00000228328
AA Change: F138S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228392

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.1%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,533,798 (GRCm38)	N1317D	probably benign	Het
Abhd8	T	A	8: 71,458,150 (GRCm38)	Y338F	possibly damaging	Het
Actg2	G	T	6: 83,516,364 (GRCm38)	N297K	probably damaging	Het
Agap1	A	G	1: 89,630,434 (GRCm38)	D148G	probably damaging	Het
Alox12	T	C	11: 70,254,591 (GRCm38)	D52G	possibly damaging	Het
Ano5	T	A	7: 51,574,825 (GRCm38)	S496T	probably damaging	Het
Arl6ip4	T	C	5: 124,117,905 (GRCm38)		probably null	Het
Atp4a	G	C	7: 30,722,516 (GRCm38)	E826Q	probably damaging	Het
Bbs7	T	C	3: 36,602,911 (GRCm38)	D256G	probably damaging	Het
Bckdha	T	A	7: 25,631,441 (GRCm38)	D50V	probably damaging	Het
Cast	A	G	13: 74,695,937 (GRCm38)	S693P	possibly damaging	Het
Cfap251	C	T	5: 123,274,204 (GRCm38)	T532M	probably damaging	Het
Col6a1	T	C	10: 76,709,866 (GRCm38)	Y924C	unknown	Het
Crkl	A	G	16: 17,452,740 (GRCm38)	Y88C	probably damaging	Het
Cse1l	T	C	2: 166,919,621 (GRCm38)	F32L	probably benign	Het
Dmxl2	C	T	9: 54,393,673 (GRCm38)	V2385I	probably benign	Het
Dnah1	T	A	14: 31,268,027 (GRCm38)	I3219F	probably damaging	Het
Dnah17	C	T	11: 118,025,549 (GRCm38)	R4266H	probably benign	Het
Efcab5	A	G	11: 77,121,262 (GRCm38)	L722P	probably damaging	Het
Emilin3	C	A	2: 160,909,185 (GRCm38)	V215L	probably benign	Het
Entr1	T	C	2: 26,386,971 (GRCm38)	D249G	possibly damaging	Het
Esr1	A	T	10: 4,746,622 (GRCm38)	N157I	possibly damaging	Het
Esrrg	A	G	1: 188,198,707 (GRCm38)	M309V	probably benign	Het
Fam120b	G	A	17: 15,401,910 (GRCm38)	R50Q	probably damaging	Het
Fat2	G	T	11: 55,310,303 (GRCm38)	Y648*	probably null	Het
Gbp2b	T	A	3: 142,603,653 (GRCm38)	I175N	probably benign	Het
Gm1043	T	A	5: 37,154,608 (GRCm38)		probably benign	Het
Gm21060	A	G	19: 61,296,973 (GRCm38)	C33R	possibly damaging	Het
Gpx6	C	T	13: 21,312,340 (GRCm38)	S28L	probably benign	Het
Hyls1	G	A	9: 35,561,184 (GRCm38)	S312F	probably benign	Het
Ifi44	T	C	3: 151,749,558 (GRCm38)	Q10R	probably benign	Het
Impa2	T	C	18: 67,318,428 (GRCm38)	V264A	probably benign	Het
Khdc1a	A	T	1: 21,350,884 (GRCm38)	M98L	probably benign	Het
Lrrc45	T	A	11: 120,720,648 (GRCm38)	L616*	probably null	Het
Mios	A	T	6: 8,215,704 (GRCm38)	H300L	probably benign	Het
Mllt6	A	T	11: 97,677,225 (GRCm38)	T827S	probably damaging	Het
Mrc1	C	A	2: 14,316,901 (GRCm38)	D1068E	probably benign	Het
Ndst3	T	C	3: 123,552,519 (GRCm38)	Y702C	probably damaging	Het
Nek11	T	A	9: 105,204,888 (GRCm38)		probably null	Het
Nfatc4	T	A	14: 55,832,440 (GRCm38)	Y688*	probably null	Het
Nlrx1	C	T	9: 44,263,760 (GRCm38)	V240M	probably damaging	Het
Npy6r	A	T	18: 44,276,082 (GRCm38)	Y190F	probably benign	Het
Olfr548-ps1	C	A	7: 102,542,610 (GRCm38)	R225S	probably benign	Het
Or10ab5	A	C	7: 108,646,226 (GRCm38)	S117A	possibly damaging	Het
Or10d4b	T	C	9: 39,623,341 (GRCm38)	F71L	probably damaging	Het
Or1j10	T	G	2: 36,377,544 (GRCm38)	L256R	probably damaging	Het
Or5p52	A	G	7: 107,903,413 (GRCm38)	E232G	probably benign	Het
Or6c68	A	T	10: 129,322,369 (GRCm38)	T249S	probably benign	Het
Osbpl7	A	C	11: 97,052,261 (GRCm38)	H113P	probably benign	Het
Pam16l	C	T	10: 43,524,256 (GRCm38)	A30V	probably benign	Het
Pck1	A	G	2: 173,154,857 (GRCm38)	E188G	probably benign	Het
Pimreg	A	G	11: 72,045,750 (GRCm38)	D213G	probably benign	Het
Pkd1l2	A	G	8: 117,043,237 (GRCm38)	I1160T	probably damaging	Het
Ppargc1b	G	A	18: 61,307,934 (GRCm38)	Q622*	probably null	Het
Ppfia2	T	A	10: 106,906,477 (GRCm38)	C1044S	probably damaging	Het
Ppp4r3a	A	G	12: 101,058,400 (GRCm38)	V280A	probably damaging	Het
Ptprf	T	C	4: 118,211,048 (GRCm38)	N1764D	probably benign	Het
Pygm	C	T	19: 6,388,812 (GRCm38)	R311C	possibly damaging	Het
Rab7b	A	G	1: 131,698,561 (GRCm38)	K109R	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,579,906 (GRCm38)		probably benign	Homo
Setbp1	T	G	18: 78,857,711 (GRCm38)	I914L	probably benign	Het
Shprh	A	C	10: 11,151,991 (GRCm38)	Q114P	probably benign	Het
Slc5a9	T	C	4: 111,885,528 (GRCm38)	I456V	possibly damaging	Het
Slc8b1	T	C	5: 120,519,920 (GRCm38)		probably null	Het
Spin1	T	A	13: 51,139,516 (GRCm38)	Y87*	probably null	Het
Spring1	T	C	5: 118,255,733 (GRCm38)	W59R	probably damaging	Het
Srebf2	T	C	15: 82,177,276 (GRCm38)		probably null	Het
Sufu	T	C	19: 46,475,539 (GRCm38)	Y397H	probably damaging	Het
Tgfb3	A	C	12: 86,063,850 (GRCm38)	V242G	probably benign	Het
Tgm3	A	T	2: 130,042,000 (GRCm38)	Y526F	probably damaging	Het
Tmem209	A	G	6: 30,482,968 (GRCm38)	L508P	probably damaging	Het
Tmem67	T	C	4: 12,063,799 (GRCm38)	D454G	probably benign	Het
Ttn	T	C	2: 76,816,599 (GRCm38)	E3280G	possibly damaging	Het
Tusc3	G	C	8: 39,071,406 (GRCm38)	G200R	probably damaging	Het
Umps	A	G	16: 33,962,138 (GRCm38)	V138A	probably benign	Het
Ypel1	A	G	16: 17,084,513 (GRCm38)		probably null	Het
Zdhhc19	T	A	16: 32,499,042 (GRCm38)	L63Q	probably null	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
R6171:Nek4	UTSW	14	30,970,347 (GRCm38)	missense	probably benign	0.01
R7145:Nek4	UTSW	14	30,982,348 (GRCm38)	missense	probably damaging	0.96
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'- CATGTTCATGTATGTATGCAGAAGC -3'
(R):5'- AGGTACTCGAGGCTCTGAAAC -3'

Sequencing Primer
(F):5'- CCGGAGTGTTGTAGATCCAAACTTAG -3'
(R):5'- TTGATATTCCCCCAGAGCAAGGTG -3'

Posted On

2017-08-16