Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02207:Nek9'

284531

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nek9

Ensembl Gene

ENSMUSG00000034290

Gene Name

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

Synonyms

C130021H08Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02207

Quality Score

Status

Chromosome

Chromosomal Location

85299514-85339362 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 85303483 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 939 (L939*)

Ref Sequence

ENSEMBL: ENSMUSP00000049056 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000040992
AA Change: L939*

SMART Domains

Protein: ENSMUSP00000049056
Gene: ENSMUSG00000034290
AA Change: L939*

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

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110034G24Rik	A	T	2: 132,691,946		probably benign	Het
Adamtsl2	A	G	2: 27,102,981	E702G	probably damaging	Het
Adgre5	T	C	8: 83,728,284	T260A	probably damaging	Het
Agap3	A	T	5: 24,499,936	T660S	probably benign	Het
Amotl2	A	T	9: 102,724,697	E380V	probably damaging	Het
Ap4e1	A	G	2: 127,011,816	E58G	probably damaging	Het
Arap3	G	A	18: 37,987,853	A713V	probably benign	Het
B4galt2	T	C	4: 117,881,521	D33G	probably damaging	Het
Bbs7	A	T	3: 36,604,490	S212T	probably benign	Het
Ccl26	A	G	5: 135,563,370	Y38H	probably benign	Het
Ccne2	A	T	4: 11,202,261	S339C	probably benign	Het
Cd55	A	G	1: 130,452,419	V274A	possibly damaging	Het
Cenpw	T	G	10: 30,198,581		probably null	Het
Chrnb4	T	C	9: 55,035,216	D258G	probably damaging	Het
Col4a3bp	T	C	13: 96,624,792		probably null	Het
Commd3	T	C	2: 18,674,008		probably null	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cyp2b23	C	A	7: 26,681,755	R59L	probably damaging	Het
Edar	G	T	10: 58,610,521	T194K	probably damaging	Het
Edem3	A	G	1: 151,808,360	I733V	possibly damaging	Het
Elmod2	T	C	8: 83,321,506	Y109C	probably benign	Het
Eps15	C	T	4: 109,304,748		probably benign	Het
Fat4	T	C	3: 38,951,263	V1937A	probably benign	Het
Fdx1l	T	A	9: 21,068,119		probably null	Het
Flg2	A	T	3: 93,220,128	I2116F	unknown	Het
Gm15091	A	G	X: 149,977,466	D424G	possibly damaging	Het
Gm16380	T	A	9: 53,884,539		noncoding transcript	Het
Gm6614	A	T	6: 141,990,432	I309N	possibly damaging	Het
Gpn2	G	A	4: 133,584,636	V60M	possibly damaging	Het
Grip1	G	A	10: 120,075,309	R1044K	probably damaging	Het
H2-D1	T	A	17: 35,263,414	S37T	possibly damaging	Het
Havcr1	C	T	11: 46,778,576	A294V	probably benign	Het
Herc4	G	A	10: 63,299,244		probably null	Het
Ift140	A	G	17: 25,055,598	Y748C	probably benign	Het
Il20ra	A	G	10: 19,751,578	T242A	probably damaging	Het
Ilvbl	G	A	10: 78,583,702		probably null	Het
Kif18a	A	T	2: 109,296,707	I329L	probably damaging	Het
Kmt2a	T	A	9: 44,847,682	I957F	probably damaging	Het
Krt1	A	G	15: 101,848,616	I282T	possibly damaging	Het
Lamb1	T	G	12: 31,329,435	V1768G	probably damaging	Het
Nfe2l2	A	G	2: 75,678,525	L122P	probably damaging	Het
Nin	T	C	12: 70,056,657	M270V	probably damaging	Het
Nlrp4a	G	T	7: 26,449,278	K103N	possibly damaging	Het
Nrde2	T	C	12: 100,130,931	Y870C	probably benign	Het
Nsmce2	A	G	15: 59,416,078	M71V	probably benign	Het
Ocstamp	T	C	2: 165,397,663	H201R	possibly damaging	Het
Olfr1126	A	G	2: 87,457,450	D95G	probably benign	Het
Olfr744	G	A	14: 50,618,558	G112D	probably damaging	Het
Oog4	T	C	4: 143,438,940	I212M	probably benign	Het
Osmr	T	C	15: 6,847,147	T99A	probably benign	Het
Pdia4	A	T	6: 47,796,807	M536K	probably benign	Het
Pdyn	A	T	2: 129,688,518	L77H	probably damaging	Het
Pikfyve	T	C	1: 65,251,678		probably null	Het
Plcb1	A	G	2: 135,387,171	E1105G	probably damaging	Het
Rb1	A	T	14: 73,206,085	D743E	probably damaging	Het
Rdh14	G	A	12: 10,394,712	V188I	possibly damaging	Het
Scd3	T	C	19: 44,215,589	V72A	possibly damaging	Het
Slc25a27	G	A	17: 43,661,684	R104W	probably damaging	Het
Slc29a4	A	G	5: 142,718,885	D394G	possibly damaging	Het
Snx29	T	G	16: 11,738,352	M407R	probably damaging	Het
Syf2	A	G	4: 134,935,052		probably null	Het
Syn1	T	C	X: 20,865,137	Q321R	probably benign	Het
Tbc1d12	A	T	19: 38,916,647	D602V	probably damaging	Het
Tenm4	A	T	7: 96,874,116	I1585F	possibly damaging	Het
Tgfbr1	A	G	4: 47,410,785		probably benign	Het
Trav6-2	G	A	14: 52,667,432	V8M	possibly damaging	Het
Unc119b	A	G	5: 115,134,754	S53P	probably benign	Het
Vmp1	T	A	11: 86,607,193	I299F	possibly damaging	Het
Xpot	T	C	10: 121,613,580	Y194C	probably damaging	Het
Zbtb10	T	A	3: 9,280,465		probably null	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
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	intron	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
R7988:Nek9	UTSW	12	85305596	missense	probably damaging	1.00
X0052:Nek9	UTSW	12	85322027	critical splice donor site	probably null
Z1177:Nek9	UTSW	12	85334045	nonsense	probably null

Posted On

2015-04-16