Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01431:Nek9'

84124

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 #

IGL01431

Quality Score

Status

Chromosome

Chromosomal Location

85299514-85339362 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85314587 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 448 (Y448C)

Ref Sequence

ENSEMBL: ENSMUSP00000049056 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000040992
AA Change: Y448C

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000049056
Gene: ENSMUSG00000034290
AA Change: Y448C

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

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	A	T	2: 111,225,395		probably benign	Het
Adamts7	A	G	9: 90,207,785	I897T	possibly damaging	Het
Aqp2	G	A	15: 99,579,420	V90M	possibly damaging	Het
Atf6	T	C	1: 170,853,002		probably benign	Het
Cdh3	T	C	8: 106,547,669	Y607H	probably damaging	Het
Cer1	T	A	4: 82,882,831	E198D	probably benign	Het
Dscam	A	G	16: 96,652,078		probably null	Het
Ecel1	C	T	1: 87,151,504	R484H	probably damaging	Het
Entpd7	C	A	19: 43,729,839	H575Q	probably benign	Het
F11r	T	C	1: 171,462,909	V279A	probably damaging	Het
Gm17093	T	A	14: 44,521,665		probably benign	Het
Got1	T	A	19: 43,503,049	K321*	probably null	Het
Gpn1	T	C	5: 31,507,538	V302A	probably benign	Het
Hivep1	G	T	13: 42,158,017	K1244N	probably damaging	Het
Idh3b	T	C	2: 130,281,897	T116A	possibly damaging	Het
Itgb4	C	A	11: 116,006,457		probably benign	Het
Mybl1	G	T	1: 9,672,647	L579I	probably damaging	Het
Myh14	T	A	7: 44,614,358	T1694S	probably null	Het
Mylk3	T	C	8: 85,336,401	D537G	probably damaging	Het
Myo1d	A	C	11: 80,674,839	F387V	probably damaging	Het
Olfr1090	A	T	2: 86,754,164	H191Q	probably benign	Het
Paxbp1	T	C	16: 91,035,916		probably benign	Het
Retreg2	T	A	1: 75,145,105		probably null	Het
Ripply3	G	A	16: 94,328,543	C16Y	possibly damaging	Het
Robo3	G	A	9: 37,419,111		probably benign	Het
Rrm1	C	A	7: 102,457,552		probably benign	Het
Rsad2	T	A	12: 26,448,667	R269S	probably benign	Het
Sbp	A	T	17: 23,945,348		probably benign	Het
Schip1	A	T	3: 68,617,777	Q162L	probably damaging	Het
Senp1	T	C	15: 98,082,263	Y67C	probably damaging	Het
Slc25a25	C	T	2: 32,419,091	R233K	probably damaging	Het
Smoc1	C	A	12: 81,152,751	S220*	probably null	Het
Stab1	C	A	14: 31,148,995	R1299I	probably benign	Het
Stk17b	A	G	1: 53,765,915		probably benign	Het
Tmc7	T	G	7: 118,552,762	D312A	probably damaging	Het
Vmn1r79	T	C	7: 12,176,400	S70P	possibly damaging	Het
Zfc3h1	C	A	10: 115,423,223	T1591K	possibly damaging	Het

Other mutations in Nek9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R8165:Nek9	UTSW	12	85303643	missense	probably benign	0.01
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

Posted On

2013-11-11