Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01286:Nek1'

72734

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 #

IGL01286

Quality Score

Status

Chromosome

Chromosomal Location

61446229-61584380 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61577250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1052 (V1052D)

Ref Sequence

ENSEMBL: ENSMUSP00000147258 (fasta)

Gene Model

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

AlphaFold

P51954

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034065
AA Change: V1077D

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034065
Gene: ENSMUSG00000031644
AA Change: V1077D

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: V1105D

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113932
Gene: ENSMUSG00000031644
AA Change: V1105D

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: ENSMUST00000129408

Predicted Effect

possibly damaging
Transcript: ENSMUST00000211256
AA Change: V1052D

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000211672
AA Change: V1149D

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,629,578 (GRCm39)	C214S	possibly damaging	Het
Ankrd26	A	T	6: 118,536,068 (GRCm39)	V122E	probably damaging	Het
Blnk	T	C	19: 40,922,950 (GRCm39)	K389R	probably benign	Het
Cdcp3	A	T	7: 130,848,432 (GRCm39)	N862I	probably damaging	Het
Cdh11	T	A	8: 103,391,261 (GRCm39)	Q325L	probably damaging	Het
Cep112	T	C	11: 108,750,235 (GRCm39)		probably null	Het
Cmtr2	T	A	8: 110,949,484 (GRCm39)	I598N	possibly damaging	Het
Col1a2	A	C	6: 4,533,891 (GRCm39)	E857D	unknown	Het
Col2a1	G	A	15: 97,892,759 (GRCm39)	P237L	unknown	Het
Commd2	G	A	3: 57,558,143 (GRCm39)	T66M	probably benign	Het
Cyp2c50	A	T	19: 40,080,728 (GRCm39)	K241N	probably benign	Het
Fbxo2	A	G	4: 148,250,163 (GRCm39)	N231S	probably benign	Het
Grm5	T	C	7: 87,251,773 (GRCm39)	S8P	probably benign	Het
Ip6k1	A	G	9: 107,923,082 (GRCm39)	T405A	probably benign	Het
Kel	G	T	6: 41,665,051 (GRCm39)		probably null	Het
Lin54	T	C	5: 100,633,466 (GRCm39)	T73A	probably benign	Het
Or4p22	T	A	2: 88,317,592 (GRCm39)	I172K	probably damaging	Het
Or6c6	T	A	10: 129,186,519 (GRCm39)	L29H	probably damaging	Het
Pcid2	T	C	8: 13,140,660 (GRCm39)	D155G	probably damaging	Het
Ptchd1	T	C	X: 154,357,820 (GRCm39)	T462A	possibly damaging	Het
Pxdn	A	G	12: 30,032,753 (GRCm39)	E179G	probably benign	Het
Rfc2	T	C	5: 134,618,243 (GRCm39)	L82P	probably damaging	Het
Sh3rf2	T	C	18: 42,272,676 (GRCm39)		probably null	Het
Sis	A	T	3: 72,848,358 (GRCm39)	W639R	probably damaging	Het
Tbcd	T	C	11: 121,384,719 (GRCm39)		probably null	Het
Tert	G	A	13: 73,776,416 (GRCm39)	R389H	possibly damaging	Het
Tns3	C	T	11: 8,442,617 (GRCm39)	S582N	probably benign	Het
Tssk2	C	T	16: 17,716,822 (GRCm39)	T75I	probably benign	Het
Txnl4a	C	T	18: 80,261,956 (GRCm39)	T64I	probably benign	Het
Xpot	T	C	10: 121,438,243 (GRCm39)	D782G	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
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
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

2013-10-07