Mutagenetix > Incidental Mutation

Incidental Mutation 'R4993:Nek9'

385040

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

042587-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4993 (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 85357194 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 657 (C657R)

Ref Sequence

ENSEMBL: ENSMUSP00000049056 (fasta)

Gene Model

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

AlphaFold

Q8K1R7

Predicted Effect

probably damaging
Transcript: ENSMUST00000040992
AA Change: C657R

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

SMART Domains

Protein: ENSMUSP00000049056
Gene: ENSMUSG00000034290
AA Change: C657R

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
9130008F23Rik	G	T	17: 41,191,052 (GRCm39)	Q126K	probably benign	Het
Abca15	C	A	7: 120,000,941 (GRCm39)	N1492K	probably damaging	Het
Afap1l2	C	T	19: 56,906,472 (GRCm39)	D402N	probably damaging	Het
Akap11	A	G	14: 78,750,408 (GRCm39)	F660L	probably damaging	Het
Bcl3	T	C	7: 19,554,102 (GRCm39)	T89A	probably benign	Het
Bub1b	T	C	2: 118,467,251 (GRCm39)	I858T	possibly damaging	Het
Cdk19	A	G	10: 40,352,214 (GRCm39)	D288G	possibly damaging	Het
Cyp2d34	T	A	15: 82,502,530 (GRCm39)	D202V	probably damaging	Het
Dip2c	T	G	13: 9,625,259 (GRCm39)	Y584*	probably null	Het
Dpf3	A	T	12: 83,378,635 (GRCm39)		probably null	Het
Drp2	G	A	X: 133,342,065 (GRCm39)	R567H	probably damaging	Homo
Emid1	G	T	11: 5,081,512 (GRCm39)	Q212K	probably benign	Het
Esm1	C	T	13: 113,349,933 (GRCm39)	Q118*	probably null	Het
Fahd2a	T	G	2: 127,278,284 (GRCm39)	I308L	probably benign	Het
Fanci	T	C	7: 79,085,126 (GRCm39)	*851Q	probably null	Het
Fastkd1	C	A	2: 69,533,084 (GRCm39)	V428F	probably damaging	Het
Fat2	A	T	11: 55,173,918 (GRCm39)	I2265N	probably damaging	Het
Gale	C	A	4: 135,694,171 (GRCm39)	H191Q	probably damaging	Het
Ghsr	T	A	3: 27,426,403 (GRCm39)	V153E	possibly damaging	Het
Gpc6	A	G	14: 117,861,951 (GRCm39)	N289S	possibly damaging	Het
Hoxb6	A	T	11: 96,191,537 (GRCm39)	Y153F	probably damaging	Het
Ints3	T	C	3: 90,322,814 (GRCm39)	T139A	probably benign	Het
Irf2bp2	A	G	8: 127,319,410 (GRCm39)	S256P	probably benign	Het
Klf4	G	T	4: 55,530,640 (GRCm39)	P148Q	probably damaging	Het
Loxl1	T	G	9: 58,219,820 (GRCm39)	H117P	probably damaging	Het
Lpl	A	G	8: 69,348,445 (GRCm39)	K225E	probably benign	Het
Lrba	T	A	3: 86,267,344 (GRCm39)	V1678D	probably damaging	Het
Med1	A	T	11: 98,054,730 (GRCm39)	F398Y	probably damaging	Het
Mfap2	T	C	4: 140,742,889 (GRCm39)	*186Q	probably null	Het
Mfsd3	T	C	15: 76,586,182 (GRCm39)	L105P	probably damaging	Het
Mlxip	T	G	5: 123,533,357 (GRCm39)	I122S	probably damaging	Het
Mmrn2	A	T	14: 34,118,355 (GRCm39)	Y107F	probably damaging	Het
Mtg1	G	T	7: 139,720,196 (GRCm39)	D88Y	probably null	Het
Mutyh	T	A	4: 116,675,132 (GRCm39)	S426R	probably benign	Het
Myo16	C	T	8: 10,526,094 (GRCm39)	T878I	probably damaging	Het
Myo9a	T	A	9: 59,768,755 (GRCm39)	Y912*	probably null	Het
Ncor1	A	C	11: 62,234,167 (GRCm39)	I669R	probably damaging	Het
Ndufs1	T	C	1: 63,202,935 (GRCm39)	I210V	probably benign	Het
Noct	C	T	3: 51,157,442 (GRCm39)	T260I	probably damaging	Het
Nr1h4	A	T	10: 89,334,042 (GRCm39)	M102K	probably benign	Het
Obscn	G	A	11: 59,015,587 (GRCm39)	R1054C	possibly damaging	Het
Or10ag58	T	A	2: 87,265,496 (GRCm39)	F222I	probably benign	Het
Or1j20	C	A	2: 36,760,000 (GRCm39)	Q141K	probably benign	Het
Or2a57	A	G	6: 43,213,390 (GRCm39)	M283V	possibly damaging	Het
Or51ah3	T	A	7: 103,210,524 (GRCm39)	I280N	possibly damaging	Het
Or52z14	A	T	7: 103,252,863 (GRCm39)	M1L	probably benign	Het
Or5p75-ps1	G	A	7: 108,107,450 (GRCm39)	M62I	probably damaging	Het
Otol1	C	A	3: 69,926,211 (GRCm39)	Q129K	probably benign	Het
Otx1	A	T	11: 21,948,532 (GRCm39)		probably null	Het
Pcdhac2	C	A	18: 37,279,304 (GRCm39)	N761K	probably damaging	Het
Pde1c	A	T	6: 56,127,609 (GRCm39)	M452K	probably damaging	Het
Phkg2	T	C	7: 127,173,113 (GRCm39)	Y24H	probably damaging	Het
Pigr	G	A	1: 130,769,554 (GRCm39)	D122N	probably benign	Het
Prg4	C	T	1: 150,336,432 (GRCm39)	C97Y	probably damaging	Het
Ptdss1	T	C	13: 67,093,352 (GRCm39)	V64A	probably benign	Het
Ralgapa2	T	C	2: 146,289,231 (GRCm39)	K324E	probably damaging	Het
Rfx5	G	A	3: 94,863,126 (GRCm39)	V73I	probably benign	Het
Riiad1	T	C	3: 94,380,170 (GRCm39)	T42A	probably benign	Het
Rims2	T	C	15: 39,317,841 (GRCm39)	V640A	possibly damaging	Het
Rnpep	G	T	1: 135,190,770 (GRCm39)	S592Y	possibly damaging	Het
Scap	T	C	9: 110,207,458 (GRCm39)	L431P	probably damaging	Het
Siglec1	T	A	2: 130,915,281 (GRCm39)	I1437F	possibly damaging	Het
Skic3	T	A	13: 76,331,055 (GRCm39)	M1495K	probably damaging	Het
Skint1	T	C	4: 111,885,530 (GRCm39)		probably null	Het
Slc44a1	A	G	4: 53,543,644 (GRCm39)	E396G	probably damaging	Het
Slc4a2	T	C	5: 24,639,867 (GRCm39)	F521S	probably damaging	Het
Smarcc1	T	A	9: 110,004,129 (GRCm39)	S394R	probably damaging	Het
Socs1	A	G	16: 10,602,549 (GRCm39)	S63P	probably benign	Het
Spopfm2	C	T	3: 94,083,623 (GRCm39)	G63R	probably damaging	Het
Sun1	T	G	5: 139,211,088 (GRCm39)	S20A	possibly damaging	Het
Tac4	A	T	11: 95,156,068 (GRCm39)	K50*	probably null	Het
Tasor	T	A	14: 27,151,071 (GRCm39)	W16R	possibly damaging	Het
Tcaf2	A	G	6: 42,619,574 (GRCm39)	I151T	probably damaging	Het
Tcf4	T	C	18: 69,814,840 (GRCm39)	V587A	probably damaging	Het
Ttn	T	A	2: 76,571,253 (GRCm39)	K24801*	probably null	Het
Tuba3b	G	T	6: 145,566,999 (GRCm39)	M413I	possibly damaging	Het
Ufl1	C	T	4: 25,267,832 (GRCm39)	A280T	possibly damaging	Het
Ugt2b5	T	A	5: 87,287,532 (GRCm39)	I212L	probably benign	Het
Umodl1	A	G	17: 31,205,459 (GRCm39)	T685A	probably benign	Het
Uqcrc1	T	A	9: 108,773,878 (GRCm39)	V183D	probably damaging	Het
Ush2a	A	G	1: 188,642,917 (GRCm39)	N4093S	probably benign	Het
Vmn1r167	C	T	7: 23,204,653 (GRCm39)	S121N	probably damaging	Het
Vmn1r47	A	G	6: 89,999,740 (GRCm39)	S291G	possibly damaging	Het
Vmn2r108	A	G	17: 20,701,449 (GRCm39)	V17A	probably benign	Het
Vmn2r58	T	A	7: 41,487,176 (GRCm39)	H573L	probably benign	Het
Xirp1	C	T	9: 119,847,858 (GRCm39)	V342I	probably damaging	Het
Zfp462	A	G	4: 55,051,204 (GRCm39)	M2226V	possibly damaging	Het
Zfp467	G	A	6: 48,415,963 (GRCm39)	H230Y	probably damaging	Het
Zfp595	T	A	13: 67,464,465 (GRCm39)	K599N	probably damaging	Het
Zfp819	C	A	7: 43,266,720 (GRCm39)	T401K	probably benign	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
R2368:Nek9	UTSW	12	85,376,661 (GRCm39)	missense	possibly damaging	0.89
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
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'- AGAGAAGTGCTCAATGGTTGTG -3'
(R):5'- ATGGAGTGTGCTCTACCTTCC -3'

Sequencing Primer
(F):5'- CTCAATGGTTGTGGGAATATTTTACC -3'
(R):5'- CGTGTTTCATAACCCATTCGTGATTG -3'

Posted On

2016-05-10