Mutagenetix > Incidental Mutation

Incidental Mutation 'R2368:Nek9'

246406

Institutional Source

Beutler Lab

Gene Symbol

Nek9

Ensembl Gene

ENSMUSG00000034290

Gene Name

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

Synonyms

C130021H08Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2368 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85346288-85386136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85376661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 240 (V240A)

Ref Sequence

ENSEMBL: ENSMUSP00000049056 (fasta)

Gene Model

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

AlphaFold

Q8K1R7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040992
AA Change: V240A

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000049056
Gene: ENSMUSG00000034290
AA Change: V240A

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: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.0%

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid2	A	G	15: 96,247,893 (GRCm39)	K102E	possibly damaging	Het
Bsn	G	A	9: 107,988,229 (GRCm39)	Q2508*	probably null	Het
Cc2d2a	A	G	5: 43,861,230 (GRCm39)	T549A	probably benign	Het
Lyst	A	T	13: 13,871,248 (GRCm39)	S2662C	probably damaging	Het
Nol4l	T	C	2: 153,259,959 (GRCm39)	D165G	probably damaging	Het
Or10ak12	A	G	4: 118,667,019 (GRCm39)	V14A	probably benign	Het
Or14j5	A	T	17: 38,161,509 (GRCm39)	M9L	probably benign	Het
Or5p69	A	G	7: 107,967,576 (GRCm39)	Y293C	probably damaging	Het
Or8h8	A	T	2: 86,753,451 (GRCm39)	Y142N	probably benign	Het
Plin5	T	C	17: 56,422,588 (GRCm39)	E116G	probably damaging	Het
Slc35d2	C	T	13: 64,277,119 (GRCm39)	M1I	probably null	Het
Srgap1	A	T	10: 121,665,194 (GRCm39)	S493T	probably benign	Het
Syt9	T	A	7: 107,035,906 (GRCm39)	Y308N	probably damaging	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Vmn2r74	C	T	7: 85,610,522 (GRCm39)	D57N	probably benign	Het
Vstm5	A	T	9: 15,169,027 (GRCm39)	M166L	probably benign	Het
Zbtb12	T	C	17: 35,114,674 (GRCm39)	L153P	possibly damaging	Het

Other mutations in Nek9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01431:Nek9	APN	12	85,361,361 (GRCm39)	missense	probably benign	0.23
IGL01595:Nek9	APN	12	85,361,194 (GRCm39)	missense	probably damaging	1.00
IGL01603:Nek9	APN	12	85,352,379 (GRCm39)	missense	probably damaging	1.00
IGL01893:Nek9	APN	12	85,383,174 (GRCm39)	missense	probably damaging	1.00
IGL02017:Nek9	APN	12	85,376,697 (GRCm39)	missense	probably damaging	1.00
IGL02197:Nek9	APN	12	85,354,704 (GRCm39)	missense	probably null
IGL02207:Nek9	APN	12	85,350,257 (GRCm39)	nonsense	probably null
IGL02749:Nek9	APN	12	85,352,281 (GRCm39)	missense	probably benign	0.02
IGL02756:Nek9	APN	12	85,358,110 (GRCm39)	critical splice donor site	probably null
IGL03343:Nek9	APN	12	85,350,383 (GRCm39)	missense	probably damaging	1.00
Rose_colored	UTSW	12	85,350,311 (GRCm39)	missense	probably damaging	1.00
R0048:Nek9	UTSW	12	85,348,673 (GRCm39)	missense	probably benign	0.17
R0331:Nek9	UTSW	12	85,374,149 (GRCm39)	splice site	probably benign
R0499:Nek9	UTSW	12	85,348,657 (GRCm39)	missense	probably benign	0.09
R1484:Nek9	UTSW	12	85,348,622 (GRCm39)	missense	probably damaging	1.00
R1760:Nek9	UTSW	12	85,357,184 (GRCm39)	missense	probably benign	0.00
R1760:Nek9	UTSW	12	85,352,364 (GRCm39)	missense	possibly damaging	0.71
R1883:Nek9	UTSW	12	85,379,330 (GRCm39)	missense	probably damaging	1.00
R1884:Nek9	UTSW	12	85,379,330 (GRCm39)	missense	probably damaging	1.00
R1999:Nek9	UTSW	12	85,376,677 (GRCm39)	missense	probably damaging	1.00
R2046:Nek9	UTSW	12	85,367,481 (GRCm39)	splice site	probably benign
R2096:Nek9	UTSW	12	85,361,322 (GRCm39)	missense	probably benign	0.00
R2150:Nek9	UTSW	12	85,376,677 (GRCm39)	missense	probably damaging	1.00
R2570:Nek9	UTSW	12	85,379,320 (GRCm39)	nonsense	probably null
R4381:Nek9	UTSW	12	85,376,632 (GRCm39)	missense	probably damaging	1.00
R4570:Nek9	UTSW	12	85,367,508 (GRCm39)	missense	probably damaging	1.00
R4661:Nek9	UTSW	12	85,367,666 (GRCm39)	missense	possibly damaging	0.78
R4669:Nek9	UTSW	12	85,360,978 (GRCm39)	missense	probably benign	0.00
R4993:Nek9	UTSW	12	85,357,194 (GRCm39)	missense	probably damaging	1.00
R5071:Nek9	UTSW	12	85,374,233 (GRCm39)	missense	possibly damaging	0.70
R5090:Nek9	UTSW	12	85,376,616 (GRCm39)	critical splice donor site	probably null
R5248:Nek9	UTSW	12	85,355,751 (GRCm39)	missense	probably damaging	1.00
R5521:Nek9	UTSW	12	85,374,219 (GRCm39)	missense	probably benign	0.09
R5734:Nek9	UTSW	12	85,350,289 (GRCm39)	missense	probably benign
R6039:Nek9	UTSW	12	85,359,859 (GRCm39)	missense	probably benign	0.08
R6039:Nek9	UTSW	12	85,359,859 (GRCm39)	missense	probably benign	0.08
R6269:Nek9	UTSW	12	85,379,103 (GRCm39)	splice site	probably null
R6353:Nek9	UTSW	12	85,348,603 (GRCm39)	missense	probably damaging	0.96
R6406:Nek9	UTSW	12	85,385,946 (GRCm39)	missense	probably damaging	0.97
R6744:Nek9	UTSW	12	85,376,703 (GRCm39)	missense	probably benign	0.09
R6922:Nek9	UTSW	12	85,350,311 (GRCm39)	missense	probably damaging	1.00
R7603:Nek9	UTSW	12	85,350,288 (GRCm39)	missense	probably benign	0.00
R7686:Nek9	UTSW	12	85,350,433 (GRCm39)	missense	probably benign	0.01
R7905:Nek9	UTSW	12	85,352,370 (GRCm39)	missense	probably damaging	1.00
R7964:Nek9	UTSW	12	85,385,787 (GRCm39)	missense	probably benign	0.02
R8165:Nek9	UTSW	12	85,350,417 (GRCm39)	missense	probably benign	0.01
R8330:Nek9	UTSW	12	85,376,727 (GRCm39)	missense	probably damaging	1.00
R8802:Nek9	UTSW	12	85,374,192 (GRCm39)	missense	probably benign	0.19
R8859:Nek9	UTSW	12	85,353,120 (GRCm39)	missense	probably damaging	1.00
R8997:Nek9	UTSW	12	85,367,565 (GRCm39)	missense	probably benign	0.00
R9055:Nek9	UTSW	12	85,348,616 (GRCm39)	missense	probably damaging	0.99
R9261:Nek9	UTSW	12	85,359,841 (GRCm39)	missense	probably damaging	1.00
R9661:Nek9	UTSW	12	85,361,253 (GRCm39)	missense	possibly damaging	0.96
X0052:Nek9	UTSW	12	85,368,801 (GRCm39)	critical splice donor site	probably null
Z1177:Nek9	UTSW	12	85,380,819 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AACCCAGGGTCTAACTATAGGTC -3'
(R):5'- TGCAACCTGCTAATAAGTGTTTCC -3'

Sequencing Primer
(F):5'- AGGGTCTAACTATAGGTCATTCATTC -3'
(R):5'- CCTGCTAATAAGTGTTTCCTGATTG -3'

Posted On

2014-10-30