Mutagenetix > Incidental Mutation

Incidental Mutation 'R5101:Nek7'

392337

Institutional Source

Beutler Lab

Gene Symbol

Nek7

Ensembl Gene

ENSMUSG00000026393

Gene Name

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

Synonyms

2810460C19Rik

MMRRC Submission

042852-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5101 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138411575-138547481 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 138443431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 174 (V174A)

Ref Sequence

ENSEMBL: ENSMUSP00000027642 (fasta)

Gene Model

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

AlphaFold

Q9ES74

Predicted Effect

probably benign
Transcript: ENSMUST00000027642
AA Change: V174A

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000027642
Gene: ENSMUSG00000026393
AA Change: V174A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000186017
AA Change: V174A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000140903
Gene: ENSMUSG00000026393
AA Change: V174A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000187407
AA Change: V174A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000140635
Gene: ENSMUSG00000026393
AA Change: V174A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188729

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191549

Meta Mutation Damage Score

0.1129

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

100% (57/57)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam17	T	C	12: 21,423,406 (GRCm39)	T10A	possibly damaging	Het
Adgrg3	T	C	8: 95,763,563 (GRCm39)	F288S	probably benign	Het
Ago2	A	G	15: 72,991,339 (GRCm39)	V533A	probably damaging	Het
Akap9	T	G	5: 4,051,748 (GRCm39)	V1505G	probably damaging	Het
Apob	T	C	12: 8,061,934 (GRCm39)	I3439T	probably benign	Het
C1qtnf7	T	A	5: 43,773,314 (GRCm39)	Y204*	probably null	Het
Cdc42bpb	T	C	12: 111,265,549 (GRCm39)	E1461G	probably damaging	Het
Cdh3	C	T	8: 107,268,024 (GRCm39)	A353V	possibly damaging	Het
Clec4d	A	G	6: 123,244,071 (GRCm39)	Y60C	probably damaging	Het
Cmya5	T	A	13: 93,228,111 (GRCm39)	T2326S	possibly damaging	Het
Cnot1	G	A	8: 96,486,815 (GRCm39)	L631F	possibly damaging	Het
Cntnap5a	C	T	1: 116,370,026 (GRCm39)	T881I	probably benign	Het
Col6a1	T	A	10: 76,545,740 (GRCm39)	T911S	unknown	Het
Ctsw	A	G	19: 5,515,703 (GRCm39)	V287A	probably benign	Het
Cyp2c23	T	C	19: 44,017,622 (GRCm39)	E2G	unknown	Het
Cytip	A	T	2: 58,037,911 (GRCm39)	I151N	probably damaging	Het
Dnah10	A	G	5: 124,909,577 (GRCm39)	T4399A	possibly damaging	Het
Dock3	A	T	9: 106,846,980 (GRCm39)	I883N	probably damaging	Het
Entpd3	A	G	9: 120,395,608 (GRCm39)	*530W	probably null	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gp1ba	G	A	11: 70,532,225 (GRCm39)	V664M	probably benign	Het
Gpd2	T	A	2: 57,245,913 (GRCm39)	I481N	probably damaging	Het
Gvin-ps5	T	C	7: 105,929,096 (GRCm39)		noncoding transcript	Het
Ildr2	A	G	1: 166,135,331 (GRCm39)	D342G	probably damaging	Het
Krt87	A	G	15: 101,385,391 (GRCm39)	I327T	probably benign	Het
Lats1	T	A	10: 7,588,348 (GRCm39)	C988*	probably null	Het
Lpin2	G	A	17: 71,550,965 (GRCm39)	W708*	probably null	Het
Mast4	T	C	13: 102,872,864 (GRCm39)	D2168G	probably benign	Het
Myo6	G	T	9: 80,177,321 (GRCm39)	E606*	probably null	Het
Nid1	T	A	13: 13,658,339 (GRCm39)	C695S	probably damaging	Het
Nme8	A	G	13: 19,875,017 (GRCm39)		probably null	Het
Nr2c2	T	C	6: 92,131,497 (GRCm39)		probably null	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or2ag18	A	T	7: 106,405,420 (GRCm39)	I83K	possibly damaging	Het
Or4x11	A	G	2: 89,867,391 (GRCm39)	M43V	probably benign	Het
Or51ab3	G	A	7: 103,201,150 (GRCm39)	E53K	probably damaging	Het
Or9g19	A	G	2: 85,600,268 (GRCm39)	N41S	probably damaging	Het
Pms2	A	G	5: 143,865,006 (GRCm39)	D696G	probably damaging	Het
Psapl1	T	A	5: 36,361,494 (GRCm39)	C29S	probably damaging	Het
Scn3a	A	T	2: 65,291,850 (GRCm39)	V1632D	probably damaging	Het
Slc22a1	C	T	17: 12,886,129 (GRCm39)	G168D	probably damaging	Het
Smad4	A	G	18: 73,808,931 (GRCm39)	V112A	probably benign	Het
Smc4	T	C	3: 68,935,845 (GRCm39)	V796A	probably benign	Het
Smco4	A	G	9: 15,455,968 (GRCm39)	E18G	unknown	Het
Spata31e2	T	C	1: 26,722,417 (GRCm39)	E921G	possibly damaging	Het
Sugp2	A	G	8: 70,713,139 (GRCm39)	E1035G	probably damaging	Het
Syde2	T	C	3: 145,721,393 (GRCm39)	S820P	probably damaging	Het
Syn2	T	C	6: 115,240,860 (GRCm39)	L410P	probably damaging	Het
Tmem131l	T	C	3: 83,844,811 (GRCm39)	N466S	probably damaging	Het
Uba1y	T	G	Y: 821,447 (GRCm39)		probably null	Het
Unc79	T	C	12: 103,078,769 (GRCm39)	S1645P	probably damaging	Het
Vmn2r17	A	T	5: 109,576,217 (GRCm39)	S363C	probably damaging	Het
Vmn2r78	T	C	7: 86,571,563 (GRCm39)	Y458H	probably damaging	Het

Other mutations in Nek7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02151:Nek7	APN	1	138,414,838 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GGGCCTGCTTCAGTTTAAATAAG -3'
(R):5'- AGTGACTTTCGGTTCAGACC -3'

Sequencing Primer
(F):5'- AACTGTGAGCACCTGTCAG -3'
(R):5'- CCTTCCACAGGAGGAAATT -3'

Posted On

2016-06-15