Mutagenetix > Incidental Mutation

Incidental Mutation 'R6867:Nek1'

535977

Institutional Source

Beutler Lab

Gene Symbol

Nek1

Ensembl Gene

ENSMUSG00000031644

Gene Name

NIMA (never in mitosis gene a)-related expressed kinase 1

Synonyms

kat, D8Ertd790e, kidney, anemia and testis

MMRRC Submission

045028-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6867 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61446229-61584380 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 61525364 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 601 (Q601K)

Ref Sequence

ENSEMBL: ENSMUSP00000147809 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034065] [ENSMUST00000120689] [ENSMUST00000211256] [ENSMUST00000211672]

AlphaFold

P51954

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034065
AA Change: Q529K

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000034065
Gene: ENSMUSG00000031644
AA Change: Q529K

Domain	Start	End	E-Value	Type
S_TKc	4	258	4.23e-95	SMART
Blast:S_TKc	266	303	3e-7	BLAST
low complexity region	321	337	N/A	INTRINSIC
coiled coil region	372	402	N/A	INTRINSIC
coiled coil region	556	592	N/A	INTRINSIC
coiled coil region	647	685	N/A	INTRINSIC
low complexity region	767	780	N/A	INTRINSIC
low complexity region	1130	1141	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120689
AA Change: Q557K

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113932
Gene: ENSMUSG00000031644
AA Change: Q557K

Domain	Start	End	E-Value	Type
S_TKc	4	258	4.23e-95	SMART
Blast:S_TKc	266	303	3e-7	BLAST
low complexity region	321	337	N/A	INTRINSIC
coiled coil region	372	402	N/A	INTRINSIC
coiled coil region	487	510	N/A	INTRINSIC
low complexity region	521	533	N/A	INTRINSIC
coiled coil region	584	620	N/A	INTRINSIC
coiled coil region	675	713	N/A	INTRINSIC
low complexity region	795	808	N/A	INTRINSIC
low complexity region	1158	1169	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211256
AA Change: Q504K

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211672
AA Change: Q601K

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (43/43)

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 kinase involved in cell cycle regulation. The encoded protein is found in a centrosomal complex with FEZ1, a neuronal protein that plays a role in axonal development. Defects in this gene are a cause of polycystic kidney disease (PKD). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]
PHENOTYPE: Spontaneous mutations of this gene result in pleiotropic effects that include facial dysmorphism, dwarfism, male sterility, anemia, cystic choroid plexus, a late-onset slowly progressive polycystic kidney disease, and premature death. Postnatal survival is sensitive to genetic background. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted(1) Gene trapped(1) Spontaneous(2)

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apold1	T	C	6: 134,961,019 (GRCm39)	S158P	possibly damaging	Het
Cep162	A	T	9: 87,099,134 (GRCm39)	L788*	probably null	Het
Cyp7b1	T	C	3: 18,151,394 (GRCm39)	Y273C	probably damaging	Het
Dlx1	C	A	2: 71,361,353 (GRCm39)	N122K	probably damaging	Het
Dock10	A	T	1: 80,508,976 (GRCm39)	I1605K	probably damaging	Het
Enox1	T	C	14: 77,936,739 (GRCm39)		probably null	Het
F3	T	C	3: 121,523,020 (GRCm39)	S77P	possibly damaging	Het
Fam186a	T	A	15: 99,843,731 (GRCm39)	I838L	unknown	Het
Flrt2	T	C	12: 95,746,156 (GRCm39)	F165L	probably damaging	Het
Gcgr	T	A	11: 120,427,295 (GRCm39)	V135E	possibly damaging	Het
Gm6741	T	C	17: 91,544,339 (GRCm39)	L34P	probably benign	Het
Gna13	T	C	11: 109,286,948 (GRCm39)	M257T	possibly damaging	Het
Hsd11b2	G	A	8: 106,248,949 (GRCm39)	R147H	probably benign	Het
Hydin	A	G	8: 111,266,434 (GRCm39)	Y2865C	probably benign	Het
Igdcc3	A	G	9: 65,090,320 (GRCm39)	N610D	probably damaging	Het
Ipp	T	A	4: 116,367,606 (GRCm39)		probably null	Het
Kdm5d	A	G	Y: 927,425 (GRCm39)	T682A	probably benign	Het
Megf8	A	G	7: 25,030,460 (GRCm39)	Y471C	probably benign	Het
Mprip	T	C	11: 59,640,456 (GRCm39)		probably null	Het
Mtres1	ACTGCACCACCT	ACT	10: 43,408,721 (GRCm39)		probably benign	Het
Myrfl	T	A	10: 116,684,187 (GRCm39)	R179*	probably null	Het
Neurod4	C	G	10: 130,106,583 (GRCm39)	K230N	probably damaging	Het
Or1ab2	C	T	8: 72,863,707 (GRCm39)	T99I	possibly damaging	Het
Or8u10	A	G	2: 85,916,082 (GRCm39)	I13T	possibly damaging	Het
Orc3	A	G	4: 34,605,539 (GRCm39)	L114P	probably damaging	Het
Rag1	T	C	2: 101,472,292 (GRCm39)	D950G	probably damaging	Het
Rasgrp2	G	A	19: 6,463,213 (GRCm39)	S504N	probably benign	Het
Rgl2	A	G	17: 34,151,661 (GRCm39)	D235G	probably benign	Het
Slc35e2	A	G	4: 155,703,157 (GRCm39)	E390G	probably benign	Het
Slc39a1	T	A	3: 90,156,759 (GRCm39)	V105E	probably damaging	Het
Tesk2	T	A	4: 116,658,995 (GRCm39)	C291S	probably damaging	Het
Tmco3	T	A	8: 13,363,927 (GRCm39)	F83Y	probably damaging	Het
Trim25	T	C	11: 88,901,713 (GRCm39)	I336T	probably benign	Het
Ush2a	A	G	1: 188,643,170 (GRCm39)	I4177M	probably damaging	Het
Veph1	T	A	3: 66,162,458 (GRCm39)	T67S	probably damaging	Het
Vmn2r43	A	G	7: 8,258,125 (GRCm39)	F363L	probably benign	Het
Vps28	A	T	15: 76,506,871 (GRCm39)	I109N	probably damaging	Het
Vps50	A	G	6: 3,517,835 (GRCm39)	D91G	probably benign	Het
Wdr20	T	C	12: 110,760,133 (GRCm39)	F340L	probably benign	Het
Wdr95	A	G	5: 149,504,388 (GRCm39)		probably null	Het
Zfand6	A	G	7: 84,265,122 (GRCm39)	V193A	probably damaging	Het
Zfp703	C	A	8: 27,468,668 (GRCm39)	P111T	probably damaging	Het

Other mutations in Nek1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00471:Nek1	APN	8	61,496,318 (GRCm39)	missense	probably benign	0.00
IGL01075:Nek1	APN	8	61,577,166 (GRCm39)	missense	possibly damaging	0.64
IGL01122:Nek1	APN	8	61,574,000 (GRCm39)	missense	possibly damaging	0.80
IGL01151:Nek1	APN	8	61,473,111 (GRCm39)	missense	probably damaging	1.00
IGL01286:Nek1	APN	8	61,577,250 (GRCm39)	missense	possibly damaging	0.64
IGL01377:Nek1	APN	8	61,542,490 (GRCm39)	missense	probably benign
IGL01485:Nek1	APN	8	61,502,860 (GRCm39)	missense	probably benign	0.02
IGL01688:Nek1	APN	8	61,558,631 (GRCm39)	nonsense	probably null
IGL01806:Nek1	APN	8	61,577,246 (GRCm39)	missense	possibly damaging	0.82
IGL02006:Nek1	APN	8	61,557,226 (GRCm39)	missense	probably benign	0.20
IGL02304:Nek1	APN	8	61,465,201 (GRCm39)	missense	probably damaging	1.00
IGL02659:Nek1	APN	8	61,542,514 (GRCm39)	missense	probably benign	0.16
IGL02662:Nek1	APN	8	61,557,218 (GRCm39)	missense	probably benign	0.00
IGL02801:Nek1	APN	8	61,574,095 (GRCm39)	critical splice donor site	probably null
IGL02806:Nek1	APN	8	61,497,120 (GRCm39)	missense	probably benign	0.15
IGL03037:Nek1	APN	8	61,487,086 (GRCm39)	missense	probably benign	0.16
IGL03252:Nek1	APN	8	61,525,364 (GRCm39)	nonsense	probably null
P0014:Nek1	UTSW	8	61,524,781 (GRCm39)	splice site	probably benign
R0019:Nek1	UTSW	8	61,542,768 (GRCm39)	missense	probably benign	0.01
R0403:Nek1	UTSW	8	61,559,889 (GRCm39)	missense	probably damaging	0.99
R0464:Nek1	UTSW	8	61,525,307 (GRCm39)	splice site	probably benign
R0726:Nek1	UTSW	8	61,542,626 (GRCm39)	missense	probably damaging	1.00
R0761:Nek1	UTSW	8	61,542,489 (GRCm39)	missense	probably benign
R0827:Nek1	UTSW	8	61,558,682 (GRCm39)	splice site	probably benign
R0972:Nek1	UTSW	8	61,542,465 (GRCm39)	splice site	probably null
R1268:Nek1	UTSW	8	61,475,298 (GRCm39)	missense	probably damaging	1.00
R1343:Nek1	UTSW	8	61,481,709 (GRCm39)	missense	probably damaging	1.00
R1415:Nek1	UTSW	8	61,542,720 (GRCm39)	missense	probably benign	0.00
R1466:Nek1	UTSW	8	61,578,170 (GRCm39)	splice site	probably benign
R1480:Nek1	UTSW	8	61,577,360 (GRCm39)	splice site	probably null
R1526:Nek1	UTSW	8	61,502,975 (GRCm39)	missense	probably benign	0.26
R1552:Nek1	UTSW	8	61,459,771 (GRCm39)	missense	probably damaging	0.99
R1606:Nek1	UTSW	8	61,577,310 (GRCm39)	missense	possibly damaging	0.82
R1650:Nek1	UTSW	8	61,489,110 (GRCm39)	missense	probably benign	0.00
R1757:Nek1	UTSW	8	61,542,847 (GRCm39)	splice site	probably null
R1808:Nek1	UTSW	8	61,469,264 (GRCm39)	missense	probably damaging	1.00
R1966:Nek1	UTSW	8	61,469,330 (GRCm39)	missense	probably damaging	1.00
R2067:Nek1	UTSW	8	61,460,196 (GRCm39)	missense	probably damaging	1.00
R2111:Nek1	UTSW	8	61,577,360 (GRCm39)	splice site	probably null
R2113:Nek1	UTSW	8	61,469,327 (GRCm39)	missense	probably damaging	1.00
R2143:Nek1	UTSW	8	61,481,730 (GRCm39)	missense	probably damaging	1.00
R2255:Nek1	UTSW	8	61,542,807 (GRCm39)	missense	probably damaging	1.00
R2422:Nek1	UTSW	8	61,472,935 (GRCm39)	missense	probably damaging	1.00
R3848:Nek1	UTSW	8	61,525,349 (GRCm39)	missense	probably damaging	0.99
R3849:Nek1	UTSW	8	61,525,349 (GRCm39)	missense	probably damaging	0.99
R3850:Nek1	UTSW	8	61,525,349 (GRCm39)	missense	probably damaging	0.99
R4418:Nek1	UTSW	8	61,559,898 (GRCm39)	missense	probably damaging	1.00
R4526:Nek1	UTSW	8	61,559,978 (GRCm39)	missense	probably damaging	0.99
R4533:Nek1	UTSW	8	61,460,247 (GRCm39)	missense	possibly damaging	0.95
R4544:Nek1	UTSW	8	61,469,338 (GRCm39)	nonsense	probably null
R4677:Nek1	UTSW	8	61,481,840 (GRCm39)	missense	probably damaging	0.99
R4739:Nek1	UTSW	8	61,551,545 (GRCm39)	missense	probably benign	0.32
R5068:Nek1	UTSW	8	61,469,330 (GRCm39)	missense	probably damaging	1.00
R5421:Nek1	UTSW	8	61,459,711 (GRCm39)	missense	possibly damaging	0.81
R5516:Nek1	UTSW	8	61,542,523 (GRCm39)	missense	probably benign	0.03
R5855:Nek1	UTSW	8	61,469,306 (GRCm39)	missense	probably damaging	1.00
R6125:Nek1	UTSW	8	61,481,735 (GRCm39)	missense	probably damaging	1.00
R6267:Nek1	UTSW	8	61,525,343 (GRCm39)	nonsense	probably null
R6292:Nek1	UTSW	8	61,507,770 (GRCm39)	splice site	probably null
R6296:Nek1	UTSW	8	61,525,343 (GRCm39)	nonsense	probably null
R6458:Nek1	UTSW	8	61,553,046 (GRCm39)	missense	probably benign	0.00
R6568:Nek1	UTSW	8	61,559,855 (GRCm39)	missense	probably benign	0.00
R6629:Nek1	UTSW	8	61,507,367 (GRCm39)	splice site	probably null
R7122:Nek1	UTSW	8	61,559,829 (GRCm39)	missense	probably benign	0.00
R7193:Nek1	UTSW	8	61,526,612 (GRCm39)	missense	probably damaging	0.99
R7272:Nek1	UTSW	8	61,578,120 (GRCm39)	missense	probably benign	0.34
R7356:Nek1	UTSW	8	61,573,994 (GRCm39)	missense	probably benign	0.02
R7368:Nek1	UTSW	8	61,542,741 (GRCm39)	missense	probably benign	0.24
R7478:Nek1	UTSW	8	61,583,179 (GRCm39)	missense	probably benign	0.03
R7479:Nek1	UTSW	8	61,583,179 (GRCm39)	missense	probably benign	0.03
R7512:Nek1	UTSW	8	61,583,179 (GRCm39)	missense	probably benign	0.03
R7715:Nek1	UTSW	8	61,459,794 (GRCm39)	missense	probably damaging	0.98
R7984:Nek1	UTSW	8	61,574,087 (GRCm39)	nonsense	probably null
R8271:Nek1	UTSW	8	61,558,646 (GRCm39)	missense	probably benign	0.04
R8431:Nek1	UTSW	8	61,487,066 (GRCm39)	missense	possibly damaging	0.95
R9076:Nek1	UTSW	8	61,481,768 (GRCm39)	missense	probably damaging	0.96
R9149:Nek1	UTSW	8	61,574,055 (GRCm39)	missense	probably damaging	1.00
R9250:Nek1	UTSW	8	61,465,151 (GRCm39)	missense	probably damaging	0.99
R9429:Nek1	UTSW	8	61,559,892 (GRCm39)	missense	probably benign
R9563:Nek1	UTSW	8	61,577,157 (GRCm39)	missense	probably benign	0.36
R9616:Nek1	UTSW	8	61,473,107 (GRCm39)	missense	probably damaging	0.99
RF023:Nek1	UTSW	8	61,525,779 (GRCm39)	splice site	probably null
X0028:Nek1	UTSW	8	61,496,292 (GRCm39)	missense	probably benign	0.19
X0066:Nek1	UTSW	8	61,578,162 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- ATGCTGTGTCATAATTTTGCCC -3'
(R):5'- TGGCAGTTTGAACTCCTTCAC -3'

Sequencing Primer
(F):5'- GTGTCATAATTTTGCCCCATAACTG -3'
(R):5'- GGCAGTTTGAACTCCTTCACTTAAG -3'

Posted On

2018-10-18