Mutagenetix > Incidental Mutations

Incidental Mutation 'R8165:Nek9'

633738

Institutional Source

Beutler Lab

Gene Symbol

Nek9

Ensembl Gene

ENSMUSG00000034290

Gene Name

NIMA (never in mitosis gene a)-related expressed kinase 9

Synonyms

C130021H08Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8165 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85299514-85339362 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85303643 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 886 (V886I)

Ref Sequence

ENSEMBL: ENSMUSP00000049056 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040992] [ENSMUST00000059341]

Predicted Effect

probably benign
Transcript: ENSMUST00000040992
AA Change: V886I

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000049056
Gene: ENSMUSG00000034290
AA Change: V886I

Domain	Start	End	E-Value	Type
low complexity region	19	49	N/A	INTRINSIC
S_TKc	52	308	1.07e-73	SMART
Pfam:RCC1	389	441	1.2e-9	PFAM
Pfam:RCC1_2	428	457	1.5e-8	PFAM
Pfam:RCC1	444	495	3.6e-13	PFAM
Pfam:RCC1_2	482	511	3.6e-11	PFAM
Pfam:RCC1	499	547	7.6e-14	PFAM
Pfam:RCC1	615	665	4.2e-8	PFAM
Pfam:RCC1_2	652	681	4.4e-7	PFAM
low complexity region	752	767	N/A	INTRINSIC
low complexity region	889	900	N/A	INTRINSIC
low complexity region	910	927	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000059341

SMART Domains

Protein: ENSMUSP00000051664
Gene: ENSMUSG00000045064

Domain	Start	End	E-Value	Type
low complexity region	93	106	N/A	INTRINSIC
coiled coil region	207	254	N/A	INTRINSIC
Pfam:zf-C2HC_2	378	402	3.6e-10	PFAM
low complexity region	433	444	N/A	INTRINSIC
Pfam:zf-C2HC_2	489	513	3.1e-11	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (65/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NimA (never in mitosis A) family of serine/threonine protein kinases. The encoded protein is activated in mitosis and, in turn, activates other family members during mitosis. This protein also mediates cellular processes that are essential for interphase progression. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	C	A	5: 63,897,946		probably null	Het
1110037F02Rik	T	A	4: 11,542,128	D1521E	probably benign	Het
Amph	A	G	13: 19,094,837	K161E	probably benign	Het
Aox2	A	T	1: 58,308,929	H602L	probably benign	Het
Areg	A	G	5: 91,143,633	N145S	probably damaging	Het
Arhgap29	C	T	3: 121,988,573	T142I	probably damaging	Het
Bcar3	C	T	3: 122,511,156		probably benign	Het
Brpf3	C	T	17: 28,806,274	A107V	probably benign	Het
Btnl2	T	A	17: 34,368,708	S509T	possibly damaging	Het
Cacna2d2	A	G	9: 107,525,454		probably null	Het
Casz1	C	T	4: 148,944,431	P1111L	probably damaging	Het
Ccdc91	C	T	6: 147,631,588	T411I	unknown	Het
Chd9	A	C	8: 91,041,141	E2422A	probably damaging	Het
Clrn3	T	C	7: 135,528,404	I34V	probably benign	Het
Cnksr3	C	T	10: 7,154,467	D79N	probably damaging	Het
Cops8	A	G	1: 90,612,007		probably null	Het
Cpa2	A	G	6: 30,564,346	K392R	probably benign	Het
Dnajc28	G	A	16: 91,616,907	R150*	probably null	Het
Dnase1l3	T	C	14: 7,994,299		probably benign	Het
Fam65a	C	A	8: 105,620,888	L1028M	unknown	Het
Gdpd5	A	T	7: 99,456,482	T502S	probably benign	Het
Gp2	A	T	7: 119,450,152	D387E	probably damaging	Het
Gpr179	A	G	11: 97,351,538	L160P	probably benign	Het
Hmcn1	G	A	1: 150,646,658	T3497M	probably benign	Het
Idh3b	T	A	2: 130,280,500	T322S	possibly damaging	Het
Kit	A	T	5: 75,620,880	N323I	possibly damaging	Het
Kng2	T	C	16: 22,987,496	S445G	unknown	Het
Lin54	A	G	5: 100,454,499	V393A	probably benign	Het
Lyst	T	A	13: 13,698,360	W2715R	probably damaging	Het
Mad1l1	T	C	5: 140,315,058	T28A	probably benign	Het
Med7	T	A	11: 46,441,246	C223S	probably benign	Het
Megf8	T	A	7: 25,353,873	L1823Q	probably damaging	Het
Mga	C	A	2: 119,947,238	Q1755K	probably benign	Het
Mgat4b	A	T	11: 50,210,974	N22I	probably benign	Het
Ndufb6	C	T	4: 40,270,665		probably null	Het
Neil3	A	G	8: 53,589,094	L490P	probably benign	Het
Nol4l	A	T	2: 153,420,553	Y366*	probably null	Het
Nt5dc2	A	G	14: 31,138,929	T354A	probably damaging	Het
Olfr339	T	A	2: 36,421,703	Y102N	probably damaging	Het
Pde2a	G	A	7: 101,500,448		probably null	Het
Phf1	T	C	17: 26,937,070	F444L	possibly damaging	Het
Plin4	G	A	17: 56,107,019	T202I	possibly damaging	Het
Plk4	G	C	3: 40,813,574	V851L	probably damaging	Het
Pp2d1	A	G	17: 53,515,229	S270P	probably damaging	Het
Scn9a	A	G	2: 66,540,530	F569L	probably damaging	Het
Sel1l2	T	A	2: 140,262,706	L306F	probably damaging	Het
Spic	A	T	10: 88,677,566	S86T	probably damaging	Het
Stkld1	A	G	2: 26,946,656	N278S	probably benign	Het
Taar7d	T	A	10: 24,027,597	F126I	probably benign	Het
Tbc1d31	A	G	15: 57,960,949	E869G	possibly damaging	Het
Tbcd	C	T	11: 121,493,885	T315M	probably benign	Het
Terf2	T	C	8: 107,083,024	K221E	possibly damaging	Het
Tex43	T	A	18: 56,589,475		probably benign	Het
Thsd7a	T	A	6: 12,468,963	T539S		Het
Tll2	A	G	19: 41,088,874	F818L	possibly damaging	Het
Tmem87a	T	C	2: 120,370,478	T427A	possibly damaging	Het
Ush2a	C	A	1: 188,451,755	Q1419K	possibly damaging	Het
Vill	T	A	9: 119,066,753	F511Y	probably damaging	Het
Vps13c	A	G	9: 67,858,790	D63G	probably benign	Het
Vrk2	A	G	11: 26,535,575	F138L	probably benign	Het
Zfp710	T	C	7: 80,086,027	I514T	probably damaging	Het
Zgrf1	T	A	3: 127,563,383	F753I	possibly damaging	Het

Other mutations in Nek9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01431:Nek9	APN	12	85314587	missense	probably benign	0.23
IGL01595:Nek9	APN	12	85314420	missense	probably damaging	1.00
IGL01603:Nek9	APN	12	85305605	missense	probably damaging	1.00
IGL01893:Nek9	APN	12	85336400	missense	probably damaging	1.00
IGL02017:Nek9	APN	12	85329923	missense	probably damaging	1.00
IGL02197:Nek9	APN	12	85307930	missense	probably null
IGL02207:Nek9	APN	12	85303483	nonsense	probably null
IGL02749:Nek9	APN	12	85305507	missense	probably benign	0.02
IGL02756:Nek9	APN	12	85311336	critical splice donor site	probably null
IGL03343:Nek9	APN	12	85303609	missense	probably damaging	1.00
Rose_colored	UTSW	12	85303537	missense	probably damaging	1.00
R0048:Nek9	UTSW	12	85301899	missense	probably benign	0.17
R0331:Nek9	UTSW	12	85327375	splice site	probably benign
R0499:Nek9	UTSW	12	85301883	missense	probably benign	0.09
R1484:Nek9	UTSW	12	85301848	missense	probably damaging	1.00
R1760:Nek9	UTSW	12	85305590	missense	possibly damaging	0.71
R1760:Nek9	UTSW	12	85310410	missense	probably benign	0.00
R1883:Nek9	UTSW	12	85332556	missense	probably damaging	1.00
R1884:Nek9	UTSW	12	85332556	missense	probably damaging	1.00
R1999:Nek9	UTSW	12	85329903	missense	probably damaging	1.00
R2046:Nek9	UTSW	12	85320707	splice site	probably benign
R2096:Nek9	UTSW	12	85314548	missense	probably benign	0.00
R2150:Nek9	UTSW	12	85329903	missense	probably damaging	1.00
R2368:Nek9	UTSW	12	85329887	missense	possibly damaging	0.89
R2570:Nek9	UTSW	12	85332546	nonsense	probably null
R4381:Nek9	UTSW	12	85329858	missense	probably damaging	1.00
R4570:Nek9	UTSW	12	85320734	missense	probably damaging	1.00
R4661:Nek9	UTSW	12	85320892	missense	possibly damaging	0.78
R4669:Nek9	UTSW	12	85314204	missense	probably benign	0.00
R4993:Nek9	UTSW	12	85310420	missense	probably damaging	1.00
R5071:Nek9	UTSW	12	85327459	missense	possibly damaging	0.70
R5090:Nek9	UTSW	12	85329842	critical splice donor site	probably null
R5248:Nek9	UTSW	12	85308977	missense	probably damaging	1.00
R5521:Nek9	UTSW	12	85327445	missense	probably benign	0.09
R5734:Nek9	UTSW	12	85303515	missense	probably benign
R6039:Nek9	UTSW	12	85313085	missense	probably benign	0.08
R6039:Nek9	UTSW	12	85313085	missense	probably benign	0.08
R6269:Nek9	UTSW	12	85332329	splice site	probably null
R6353:Nek9	UTSW	12	85301829	missense	probably damaging	0.96
R6406:Nek9	UTSW	12	85339172	missense	probably damaging	0.97
R6744:Nek9	UTSW	12	85329929	missense	probably benign	0.09
R6922:Nek9	UTSW	12	85303537	missense	probably damaging	1.00
R7603:Nek9	UTSW	12	85303514	missense	probably benign	0.00
R7686:Nek9	UTSW	12	85303659	missense	probably benign	0.01
R7905:Nek9	UTSW	12	85305596	missense	probably damaging	1.00
R7964:Nek9	UTSW	12	85339013	missense	probably benign	0.02
R8330:Nek9	UTSW	12	85329953	missense	probably damaging	1.00
X0052:Nek9	UTSW	12	85322027	critical splice donor site	probably null
Z1177:Nek9	UTSW	12	85334045	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGATGTTCTCACCTGCTGG -3'
(R):5'- AAATAGATGATTCTGCAGCAGC -3'

Sequencing Primer
(F):5'- GGCCTCCTTCCAATTTCTTGTTGAG -3'
(R):5'- TTTGTACTGGGGAGCCAT -3'

Posted On

2020-07-13