Mutagenetix > Incidental Mutations

Incidental Mutation 'R7603:Nek9'

588129

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 #

R7603 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85299514-85339362 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85303514 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 929 (F929L)

Ref Sequence

ENSEMBL: ENSMUSP00000049056 (fasta)

Gene Model

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

AlphaFold

Q8K1R7

Predicted Effect

probably benign
Transcript: ENSMUST00000040992
AA Change: F929L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000049056
Gene: ENSMUSG00000034290
AA Change: F929L

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: 99.7%
20x: 98.9%

Validation Efficiency

98% (47/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,566,191	T709A	probably benign	Het
Abca6	T	C	11: 110,180,258	K1536E	possibly damaging	Het
Abhd16a	T	A	17: 35,101,960		probably null	Het
Actrt3	C	T	3: 30,598,547	A133T	probably benign	Het
Adcy10	C	T	1: 165,564,237	R1329W	probably damaging	Het
Apol7b	T	C	15: 77,423,456	M280V	possibly damaging	Het
Canx	A	T	11: 50,311,628	D50E	probably benign	Het
Csmd1	A	T	8: 16,288,682	D470E	probably damaging	Het
Cyp2c23	C	T	19: 44,014,930	D269N	probably damaging	Het
Ddah1	T	C	3: 145,759,019	V53A	probably benign	Het
Epha7	C	T	4: 28,871,937	S422L	probably benign	Het
Fastkd5	A	G	2: 130,615,041	V543A	possibly damaging	Het
Fggy	G	A	4: 95,769,506	G295R	probably damaging	Het
Frs2	T	C	10: 117,074,063	T465A	probably benign	Het
Glipr1	A	T	10: 111,988,832	N156K	probably benign	Het
Gnpnat1	C	T	14: 45,384,617	V40I	probably benign	Het
H2-Q7	T	C	17: 35,439,963	L130P	probably damaging	Het
Herc1	T	A	9: 66,451,383	L86*	probably null	Het
Hspg2	T	C	4: 137,548,368	L2778P	probably damaging	Het
Hspg2	T	A	4: 137,557,192	I3487N	possibly damaging	Het
Htra4	T	G	8: 25,025,700	I441L	probably benign	Het
Ints7	A	T	1: 191,596,224	H203L	probably damaging	Het
Lama2	T	C	10: 27,266,680	T601A	possibly damaging	Het
Lin7b	T	C	7: 45,368,432		probably benign	Het
Lmbr1l	G	A	15: 98,908,691	Q280*	probably null	Het
Lpin3	G	T	2: 160,903,754		probably null	Het
Map1lc3b	A	T	8: 121,593,529	H27L	possibly damaging	Het
Mfsd14a	C	A	3: 116,633,883	V369F	probably damaging	Het
Ndufa12	C	T	10: 94,220,779	A123V	probably benign	Het
Nup210	A	T	6: 91,076,697	D279E	probably benign	Het
Olfr553	A	G	7: 102,614,938	V17A	probably benign	Het
Parp1	T	C	1: 180,600,212		probably null	Het
Phc3	T	C	3: 30,907,452	I944V	probably damaging	Het
Phf20	C	T	2: 156,302,851	A793V	probably benign	Het
Phf21a	A	C	2: 92,357,007	R540S	probably benign	Het
Pogk	A	G	1: 166,401,911	C124R	probably benign	Het
Rif1	C	T	2: 52,076,175	S93L	probably damaging	Het
Sele	A	G	1: 164,049,515	E120G	probably damaging	Het
Slc4a1ap	T	C	5: 31,546,195	L49P		Het
Snap47	T	C	11: 59,428,547	D255G	probably damaging	Het
Tcstv3	T	C	13: 120,317,610	V15A	probably damaging	Het
Tmcc1	A	T	6: 116,043,131	Y453*	probably null	Het
Tpsg1	G	T	17: 25,373,210	G86V	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Usp20	T	A	2: 31,011,474	V459E	probably damaging	Het
Vmn1r202	A	T	13: 22,501,620	L209Q	probably damaging	Het
Vps13b	T	C	15: 35,576,439	S998P	probably 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
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
R8802:Nek9	UTSW	12	85327418	missense	probably benign	0.19
R8859:Nek9	UTSW	12	85306346	missense	probably damaging	1.00
R8997:Nek9	UTSW	12	85320791	missense	probably benign	0.00
R9055:Nek9	UTSW	12	85301842	missense	probably damaging	0.99
R9261:Nek9	UTSW	12	85313067	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'- AGTCCCATCATTGAGAGACAGG -3'
(R):5'- GCTGGTTAACGGAAACTGTTTG -3'

Sequencing Primer
(F):5'- GGAGTCACAAAGAGCTAAGTCTAC -3'
(R):5'- ATGGCAGATCCTGTGCATTATC -3'

Posted On

2019-10-24