Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02662:Nek1'

302591

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02662

Quality Score

Status

Chromosome

Chromosomal Location

61446229-61584380 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 61557218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 841 (V841I)

Ref Sequence

ENSEMBL: ENSMUSP00000147258 (fasta)

Gene Model

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

AlphaFold

P51954

Predicted Effect

probably benign
Transcript: ENSMUST00000034065
AA Change: V866I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034065
Gene: ENSMUSG00000031644
AA Change: V866I

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

probably benign
Transcript: ENSMUST00000120689
AA Change: V894I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113932
Gene: ENSMUSG00000031644
AA Change: V894I

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

noncoding transcript
Transcript: ENSMUST00000155664

Predicted Effect

probably benign
Transcript: ENSMUST00000211256
AA Change: V841I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000211672
AA Change: V938I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

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 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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	A	G	15: 64,618,744 (GRCm39)		probably null	Het
Ap5z1	G	A	5: 142,462,644 (GRCm39)		probably null	Het
Cdhr5	T	G	7: 140,854,416 (GRCm39)	I120L	possibly damaging	Het
Chd5	C	T	4: 152,456,588 (GRCm39)	S975F	probably damaging	Het
Cts3	G	T	13: 61,715,871 (GRCm39)	Q132K	probably damaging	Het
Cylc2	T	A	4: 51,216,698 (GRCm39)		probably benign	Het
Defb39	A	G	8: 19,102,891 (GRCm39)	V68A	probably benign	Het
Dgki	A	G	6: 36,839,421 (GRCm39)		probably benign	Het
Dhtkd1	G	A	2: 5,904,783 (GRCm39)	P867L	probably damaging	Het
Gata5	C	T	2: 179,969,544 (GRCm39)		probably benign	Het
Glt28d2	T	A	3: 85,779,423 (GRCm39)	I17F	probably damaging	Het
Gstm2	T	C	3: 107,892,378 (GRCm39)	Y82C	possibly damaging	Het
Hs6st1	T	A	1: 36,142,893 (GRCm39)	L276*	probably null	Het
Iqgap1	T	C	7: 80,392,827 (GRCm39)	D712G	probably benign	Het
Kdm4c	T	C	4: 74,323,058 (GRCm39)	S997P	probably damaging	Het
Ksr1	G	A	11: 78,927,551 (GRCm39)	T289I	probably damaging	Het
Lingo4	T	C	3: 94,309,124 (GRCm39)		probably benign	Het
Ncapd2	A	G	6: 125,153,694 (GRCm39)	S674P	probably damaging	Het
Or10a48	T	C	7: 108,424,952 (GRCm39)	T85A	probably benign	Het
Or8i2	T	C	2: 86,852,346 (GRCm39)	T181A	probably benign	Het
Pigx	A	G	16: 31,906,201 (GRCm39)	V40A	probably damaging	Het
Pla2g2d	T	G	4: 138,506,006 (GRCm39)	M5R	possibly damaging	Het
Ppa2	G	T	3: 133,073,644 (GRCm39)	R234I	probably damaging	Het
Rbms1	A	C	2: 60,592,650 (GRCm39)	L221R	probably damaging	Het
Rnasel	C	A	1: 153,629,857 (GRCm39)	N124K	probably damaging	Het
Serpinb9h	A	G	13: 33,588,513 (GRCm39)	N366S	possibly damaging	Het
Sigirr	T	A	7: 140,674,707 (GRCm39)		probably benign	Het
Tas2r136	A	T	6: 132,754,671 (GRCm39)	V152E	probably damaging	Het
Tlnrd1	C	T	7: 83,532,027 (GRCm39)	V135M	possibly damaging	Het
Tlnrd1	A	G	7: 83,531,744 (GRCm39)	L229S	probably damaging	Het
Top1mt	A	G	15: 75,540,554 (GRCm39)	V239A	probably damaging	Het
Tpd52	A	T	3: 9,009,775 (GRCm39)		probably null	Het
Trim16	T	A	11: 62,731,383 (GRCm39)	L331Q	possibly damaging	Het
Ttll4	A	G	1: 74,726,390 (GRCm39)		probably null	Het
Vmn1r27	T	A	6: 58,192,272 (GRCm39)	D244V	probably damaging	Het
Vmn2r72	A	C	7: 85,387,391 (GRCm39)	D724E	probably benign	Het
Zfp563	T	C	17: 33,321,253 (GRCm39)	W18R	probably damaging	Het
Zswim8	T	C	14: 20,763,142 (GRCm39)	V347A	probably benign	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
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
R6867:Nek1	UTSW	8	61,525,364 (GRCm39)	missense	possibly damaging	0.81
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

Posted On

2015-04-16