Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02806:Nek1'

360406

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 #

IGL02806

Quality Score

Status

Chromosome

Chromosomal Location

61446229-61584380 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 61497120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 389 (M389I)

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: M389I

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000034065
Gene: ENSMUSG00000031644
AA Change: M389I

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: M389I

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113932
Gene: ENSMUSG00000031644
AA Change: M389I

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: ENSMUST00000125717

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155664

Predicted Effect

probably benign
Transcript: ENSMUST00000211256
AA Change: M389I

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000211672
AA Change: M389I

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot4	A	G	12: 84,088,737 (GRCm39)	D195G	probably damaging	Het
Acsm1	G	A	7: 119,235,861 (GRCm39)	D194N	probably benign	Het
Akr1b1	T	C	6: 34,281,254 (GRCm39)	Y310C	probably damaging	Het
Aldh6a1	T	C	12: 84,486,414 (GRCm39)	D168G	probably damaging	Het
Ankrd29	A	C	18: 12,408,795 (GRCm39)	S166A	probably benign	Het
Ap1m2	T	G	9: 21,216,979 (GRCm39)	D119A	probably damaging	Het
Atp1a3	T	C	7: 24,681,297 (GRCm39)	K776R	probably damaging	Het
Bltp1	A	G	3: 37,000,643 (GRCm39)	D1274G	possibly damaging	Het
Cacna2d3	A	C	14: 29,073,907 (GRCm39)		probably null	Het
Ccdc51	T	C	9: 108,921,316 (GRCm39)	M401T	probably benign	Het
Cchcr1	A	G	17: 35,836,153 (GRCm39)		probably benign	Het
Cspg4	T	C	9: 56,797,543 (GRCm39)	S1336P	possibly damaging	Het
Ddx60	T	A	8: 62,409,156 (GRCm39)	D397E	probably benign	Het
Duox2	T	C	2: 122,115,147 (GRCm39)	H1110R	probably damaging	Het
Ephb3	C	A	16: 21,041,031 (GRCm39)	D696E	probably benign	Het
Ermap	T	C	4: 119,046,113 (GRCm39)	K6E	possibly damaging	Het
Gm3095	A	G	14: 15,170,388 (GRCm39)	D79G	possibly damaging	Het
Hnrnpab	A	G	11: 51,496,305 (GRCm39)	S126P	probably benign	Het
Hyou1	C	A	9: 44,300,180 (GRCm39)	S823*	probably null	Het
Klhl31	T	A	9: 77,563,056 (GRCm39)	V607E	probably damaging	Het
Klrc3	A	T	6: 129,616,065 (GRCm39)	C209S	possibly damaging	Het
Lhx4	G	A	1: 155,577,975 (GRCm39)	P389L	probably benign	Het
Lmntd2	T	C	7: 140,791,952 (GRCm39)	T264A	probably benign	Het
Mkx	T	C	18: 6,937,025 (GRCm39)	D302G	probably damaging	Het
Ms4a4d	T	C	19: 11,533,610 (GRCm39)	S164P	possibly damaging	Het
Myo1e	A	G	9: 70,269,552 (GRCm39)	E651G	probably benign	Het
Myo5b	G	A	18: 74,750,151 (GRCm39)		probably null	Het
Ncoa3	A	G	2: 165,894,352 (GRCm39)	I298V	probably benign	Het
Nid1	T	A	13: 13,642,897 (GRCm39)	D278E	probably benign	Het
Nkx2-9	C	T	12: 56,658,705 (GRCm39)	V170M	probably damaging	Het
Or51ag1	T	A	7: 103,155,210 (GRCm39)	K314N	probably benign	Het
Oxsr1	T	C	9: 119,070,260 (GRCm39)	D511G	possibly damaging	Het
Pramel14	T	A	4: 143,719,501 (GRCm39)		probably null	Het
Rbm44	T	C	1: 91,080,799 (GRCm39)	L329S	possibly damaging	Het
Setd7	A	T	3: 51,457,688 (GRCm39)	N46K	probably damaging	Het
Snx10	T	A	6: 51,565,329 (GRCm39)	F149I	probably damaging	Het
Sult2a3	T	A	7: 13,856,857 (GRCm39)	E21V	probably damaging	Het
Tas2r135	T	C	6: 42,383,382 (GRCm39)	F307S	probably benign	Het
Tmem131l	T	C	3: 83,836,123 (GRCm39)		probably benign	Het
Tnfsf18	T	G	1: 161,331,348 (GRCm39)	M166R	possibly damaging	Het
Toe1	C	T	4: 116,663,527 (GRCm39)	V88M	possibly damaging	Het
Ttk	T	A	9: 83,744,540 (GRCm39)	C577*	probably null	Het
Ush2a	T	A	1: 188,542,554 (GRCm39)	Y3373*	probably null	Het
Vwa8	A	G	14: 79,394,528 (GRCm39)	D1543G	probably benign	Het
Zfhx4	A	T	3: 5,455,468 (GRCm39)	H1154L	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
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
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

2015-12-18