Mutagenetix > Incidental Mutations

Incidental Mutation 'R8330:Nek9'

644318

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 #

R8330 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85299514-85339362 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85329953 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 218 (M218T)

Ref Sequence

ENSEMBL: ENSMUSP00000049056 (fasta)

Gene Model

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

AlphaFold

Q8K1R7

Predicted Effect

probably damaging
Transcript: ENSMUST00000040992
AA Change: M218T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049056
Gene: ENSMUSG00000034290
AA Change: M218T

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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,659,793	D1405V	probably damaging	Het
5830411N06Rik	C	T	7: 140,296,318	Q568*	probably null	Het
Acsl6	A	G	11: 54,345,208	I514V	probably benign	Het
Adgrv1	C	T	13: 81,445,343	R4175H	probably damaging	Het
Ahnak	T	C	19: 9,009,662	V2770A	possibly damaging	Het
B4galt1	A	G	4: 40,812,787	V246A	probably damaging	Het
Cdr2l	T	C	11: 115,394,113	V425A	probably benign	Het
Celsr1	T	A	15: 85,932,300	D1814V	probably damaging	Het
Exoc2	A	G	13: 30,877,573	V495A	probably benign	Het
Ifi47	A	G	11: 49,095,810	T135A	possibly damaging	Het
Klhl23	T	C	2: 69,824,152	V122A	probably damaging	Het
Klri2	T	A	6: 129,733,731	N142Y	probably damaging	Het
Kmt2c	A	T	5: 25,304,694	F3161L	probably null	Het
Mgl2	A	G	11: 70,135,959	T144A	probably benign	Het
Mpp3	T	C	11: 102,008,627	E356G	probably benign	Het
Neb	T	G	2: 52,227,408	T872P		Het
Olfr1306	A	G	2: 111,912,379	F184L	probably benign	Het
Olfr517	A	T	7: 108,868,839	L105H	probably damaging	Het
Olfr633	T	G	7: 103,947,403	I279S	possibly damaging	Het
Pabpc1l	G	A	2: 164,027,648	G123R	probably damaging	Het
Parp3	T	C	9: 106,474,870		probably null	Het
Pcdhga1	A	T	18: 37,663,323	Y460F	probably benign	Het
Pclo	A	G	5: 14,675,297	T1390A	unknown	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Pex6	T	C	17: 46,712,134	L212P	possibly damaging	Het
Pigt	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT	2: 164,499,669		probably null	Het
Ppib	T	C	9: 66,061,473	F48L	probably damaging	Het
Psme4	A	G	11: 30,843,583	E1228G	probably benign	Het
Ptpdc1	G	T	13: 48,597,914	H37N	probably benign	Het
Rab31	A	T	17: 65,696,274	I126N	possibly damaging	Het
Rsad2	A	T	12: 26,456,406	V5E	probably benign	Het
S1pr3	G	A	13: 51,419,137	S118N	probably damaging	Het
Sbsn	T	A	7: 30,751,941	I127N	possibly damaging	Het
Selenoh	G	T	2: 84,670,347	Q50K	probably damaging	Het
Simc1	GCAGTCACTAAGAAGTGTAATGCAGTCATCAGGAGGTGTGACACAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA	GCAGTCACTAAGAAGTGTGATGCAGTCACCAGGAGGTGTGA	13: 54,525,364		probably benign	Het
Stkld1	A	T	2: 26,951,503	I487L	probably benign	Het
Tep1	T	A	14: 50,847,705	I874F	possibly damaging	Het
Tmem43	T	C	6: 91,478,764	V119A	possibly damaging	Het
Vmn2r80	T	A	10: 79,171,716	W509R	probably damaging	Het
Xpr1	A	C	1: 155,313,255	Y290*	probably null	Het
Zfp160	T	C	17: 21,026,051	C288R	probably damaging	Het
Zfp955a	C	T	17: 33,244,113	V15M	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
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
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'- ACTACAGGTGATTTCTGTTCAGG -3'
(R):5'- ACTTGAGACCTTGAGTTGGCATC -3'

Sequencing Primer
(F):5'- GGAGTAACTGAAGTTGATTCACTTC -3'
(R):5'- AGACCTTGAGTTGGCATCGTCTC -3'

Posted On

2020-09-02