Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02151:Nek7'

281993

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nek7

Ensembl Gene

ENSMUSG00000026393

Gene Name

NIMA (never in mitosis gene a)-related expressed kinase 7

Synonyms

2810460C19Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02151

Quality Score

Status

Chromosome

Chromosomal Location

138411575-138547481 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 138414838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 270 (L270Q)

Ref Sequence

ENSEMBL: ENSMUSP00000140635 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027642] [ENSMUST00000186017] [ENSMUST00000187407]

AlphaFold

Q9ES74

Predicted Effect

silent
Transcript: ENSMUST00000027642

SMART Domains

Protein: ENSMUSP00000027642
Gene: ENSMUSG00000026393

Domain	Start	End	E-Value	Type
S_TKc	34	299	1.86e-91	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000186017
AA Change: L270Q

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

SMART Domains

Protein: ENSMUSP00000140903
Gene: ENSMUSG00000026393
AA Change: L270Q

Domain	Start	End	E-Value	Type
S_TKc	34	299	1.86e-91	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000187407
AA Change: L270Q

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

SMART Domains

Protein: ENSMUSP00000140635
Gene: ENSMUSG00000026393
AA Change: L270Q

Domain	Start	End	E-Value	Type
S_TKc	34	299	1.86e-91	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NIMA-related kinases share high amino acid sequence identity with the gene product of the Aspergillus nidulans 'never in mitosis A' gene, which controls initiation of mitosis.[supplied by OMIM, Jul 2002]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit infertility, decreased susceptibility to EAE, decreased body weight, abnormal gait, slight parasis and abnormal immune system response. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgra3	G	T	5: 50,136,484 (GRCm39)	T667N	probably benign	Het
Aff4	T	C	11: 53,290,633 (GRCm39)	I531T	probably benign	Het
Akap9	C	T	5: 4,082,728 (GRCm39)	Q1951*	probably null	Het
Arhgef10	C	T	8: 14,978,889 (GRCm39)	T52M	possibly damaging	Het
Atg2a	A	G	19: 6,305,787 (GRCm39)	E1132G	possibly damaging	Het
AW551984	A	C	9: 39,504,241 (GRCm39)	I575S	probably benign	Het
Cfap299	C	T	5: 98,477,301 (GRCm39)	T24M	probably damaging	Het
Cog7	T	C	7: 121,543,031 (GRCm39)	E460G	probably damaging	Het
Ctse	A	G	1: 131,600,273 (GRCm39)	I341V	probably benign	Het
Dcpp1	A	T	17: 24,101,568 (GRCm39)	I106L	possibly damaging	Het
Dcxr	T	A	11: 120,616,809 (GRCm39)	M158L	probably benign	Het
Dnah11	A	T	12: 118,023,623 (GRCm39)		probably benign	Het
Dnah7a	T	A	1: 53,512,023 (GRCm39)	I3013F	probably benign	Het
Dnah8	A	G	17: 30,867,391 (GRCm39)	D281G	possibly damaging	Het
Dpysl3	G	A	18: 43,491,365 (GRCm39)	H136Y	probably damaging	Het
Eaf1	C	T	14: 31,219,744 (GRCm39)	T61M	probably damaging	Het
Fmnl1	A	G	11: 103,083,598 (GRCm39)	T441A	probably benign	Het
Hmgcll1	C	T	9: 75,988,720 (GRCm39)	P197L	probably benign	Het
Kdm4b	T	C	17: 56,703,234 (GRCm39)	V643A	probably benign	Het
Lrch2	A	G	X: 146,336,716 (GRCm39)	F111L	possibly damaging	Het
Macf1	A	T	4: 123,265,559 (GRCm39)		probably benign	Het
Mfsd4b2	T	C	10: 39,797,687 (GRCm39)	N223D	probably damaging	Het
Mug1	G	A	6: 121,861,649 (GRCm39)		probably null	Het
Nexn	T	A	3: 151,953,881 (GRCm39)	D127V	probably damaging	Het
Nxf3	A	G	X: 134,980,322 (GRCm39)	F130S	probably damaging	Het
Or11a4	T	A	17: 37,536,057 (GRCm39)	F14I	probably damaging	Het
Or52ac1	A	G	7: 104,245,741 (GRCm39)	S216P	probably damaging	Het
Pcdhb16	G	A	18: 37,611,411 (GRCm39)	V124I	possibly damaging	Het
Podxl	T	C	6: 31,501,394 (GRCm39)	D387G	possibly damaging	Het
Prp2rt	T	A	13: 97,235,682 (GRCm39)	T22S	probably null	Het
Rab3d	C	A	9: 21,827,020 (GRCm39)	R70M	probably damaging	Het
Ripk2	A	T	4: 16,139,240 (GRCm39)	M219K	possibly damaging	Het
Rnf146	A	G	10: 29,223,349 (GRCm39)	V179A	probably damaging	Het
Robo1	G	T	16: 72,786,504 (GRCm39)	V839L	probably benign	Het
Rttn	T	A	18: 89,038,329 (GRCm39)	N808K	probably damaging	Het
Slc12a3	T	G	8: 95,075,220 (GRCm39)	V738G	probably benign	Het
Slc26a3	T	C	12: 31,497,830 (GRCm39)	V78A	probably damaging	Het
Slc26a9	G	A	1: 131,691,781 (GRCm39)	V675M	probably damaging	Het
Sncb	T	A	13: 54,910,509 (GRCm39)	I76F	probably benign	Het
Stat4	G	A	1: 52,053,029 (GRCm39)	R70H	probably damaging	Het
Tle6	T	C	10: 81,434,474 (GRCm39)	M42V	probably benign	Het
Tmem67	T	C	4: 12,068,882 (GRCm39)	T439A	probably benign	Het
Ugt2b35	C	A	5: 87,151,141 (GRCm39)	T249K	possibly damaging	Het
Vmn1r231	C	T	17: 21,109,997 (GRCm39)	R306K	probably benign	Het
Vmn1r42	A	T	6: 89,822,023 (GRCm39)	I182N	possibly damaging	Het
Zfhx3	T	C	8: 109,520,515 (GRCm39)	S546P	probably damaging	Het
Zic3	G	T	X: 57,076,899 (GRCm39)		probably null	Het

Other mutations in Nek7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Beauties	UTSW	1	138,462,127 (GRCm39)	missense	probably damaging	1.00
Cuties	UTSW	1	138,471,980 (GRCm39)	nonsense	probably null
Doubletake	UTSW	1	138,443,392 (GRCm39)	missense	probably damaging	1.00
R0010:Nek7	UTSW	1	138,471,942 (GRCm39)	missense	possibly damaging	0.60
R0103:Nek7	UTSW	1	138,471,980 (GRCm39)	nonsense	probably null
R0103:Nek7	UTSW	1	138,471,980 (GRCm39)	nonsense	probably null
R0646:Nek7	UTSW	1	138,443,431 (GRCm39)	frame shift	probably null
R3953:Nek7	UTSW	1	138,462,127 (GRCm39)	missense	probably damaging	1.00
R3955:Nek7	UTSW	1	138,462,127 (GRCm39)	missense	probably damaging	1.00
R3957:Nek7	UTSW	1	138,462,127 (GRCm39)	missense	probably damaging	1.00
R4638:Nek7	UTSW	1	138,472,038 (GRCm39)	missense	probably benign	0.22
R4750:Nek7	UTSW	1	138,426,411 (GRCm39)	missense	probably damaging	1.00
R5101:Nek7	UTSW	1	138,443,431 (GRCm39)	missense	probably benign	0.04
R5331:Nek7	UTSW	1	138,426,312 (GRCm39)	critical splice donor site	probably null
R5838:Nek7	UTSW	1	138,462,101 (GRCm39)	critical splice donor site	probably null
R6083:Nek7	UTSW	1	138,443,392 (GRCm39)	missense	probably damaging	1.00
R6302:Nek7	UTSW	1	138,426,351 (GRCm39)	missense	probably damaging	0.99
R6855:Nek7	UTSW	1	138,443,420 (GRCm39)	missense	probably damaging	1.00
R6857:Nek7	UTSW	1	138,443,420 (GRCm39)	missense	probably damaging	1.00
R6941:Nek7	UTSW	1	138,430,376 (GRCm39)	missense	probably damaging	0.97
R7140:Nek7	UTSW	1	138,414,793 (GRCm39)	missense	probably benign	0.01
R7808:Nek7	UTSW	1	138,489,509 (GRCm39)	start gained	probably benign
Z1088:Nek7	UTSW	1	138,443,363 (GRCm39)	missense	probably null	0.81

Posted On

2015-04-16