Mutagenetix > Incidental Mutation

Incidental Mutation 'R0499:Nek9'

47041

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

038695-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0499 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85346288-85386136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85348657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 959 (M959K)

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: M959K

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000049056
Gene: ENSMUSG00000034290
AA Change: M959K

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

Meta Mutation Damage Score

0.0625

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

99% (97/98)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	C	3: 36,139,564 (GRCm39)	V388A	probably damaging	Het
Acp3	T	C	9: 104,197,201 (GRCm39)	E146G	probably damaging	Het
Adap2	A	T	11: 80,066,905 (GRCm39)	R276S	probably damaging	Het
Agbl3	A	T	6: 34,816,270 (GRCm39)	M727L	probably benign	Het
Ahnak	T	A	19: 8,977,628 (GRCm39)		probably benign	Het
Ankmy1	G	T	1: 92,813,948 (GRCm39)	D410E	probably damaging	Het
Ankra2	T	C	13: 98,402,962 (GRCm39)	S70P	probably damaging	Het
Aox4	T	C	1: 58,302,556 (GRCm39)		probably null	Het
Arl13b	G	A	16: 62,622,096 (GRCm39)	T399I	probably benign	Het
Atad2	A	T	15: 57,966,636 (GRCm39)	D652E	possibly damaging	Het
Atad2	T	G	15: 57,984,345 (GRCm39)	M328L	probably benign	Het
Ccnb1	T	C	13: 100,916,642 (GRCm39)		probably null	Het
Ccr2	G	C	9: 123,905,976 (GRCm39)	K85N	possibly damaging	Het
Ccr2	A	T	9: 123,906,163 (GRCm39)	T148S	possibly damaging	Het
Cdc20b	T	C	13: 113,192,484 (GRCm39)	V59A	probably benign	Het
Cdin1	C	T	2: 115,473,172 (GRCm39)	R101W	probably damaging	Het
Cdkl3	T	C	11: 51,923,243 (GRCm39)	S507P	possibly damaging	Het
Celf6	C	A	9: 59,510,161 (GRCm39)	T86K	probably benign	Het
Ces1g	A	G	8: 94,060,317 (GRCm39)	F101L	probably benign	Het
Cimap1d	T	C	10: 79,476,099 (GRCm39)	D155G	probably damaging	Het
Cntnap3	C	T	13: 65,006,492 (GRCm39)	D107N	probably benign	Het
Col15a1	A	T	4: 47,262,950 (GRCm39)	D534V	probably damaging	Het
Col27a1	A	G	4: 63,218,978 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 47,710,527 (GRCm39)	T1687A	probably benign	Het
Cstf3	A	G	2: 104,479,950 (GRCm39)	I272M	possibly damaging	Het
Cyp2d40	T	C	15: 82,645,418 (GRCm39)	T150A	probably benign	Het
Dnah8	T	A	17: 30,934,483 (GRCm39)	F1489L	possibly damaging	Het
Dop1b	A	T	16: 93,567,325 (GRCm39)	T1251S	probably benign	Het
Dtx2	G	A	5: 136,057,957 (GRCm39)	G421R	probably damaging	Het
Epb41l3	T	A	17: 69,554,654 (GRCm39)	D251E	probably benign	Het
Erg	A	C	16: 95,161,842 (GRCm39)	Y305*	probably null	Het
Exosc4	G	A	15: 76,213,766 (GRCm39)	A197T	probably benign	Het
Fam227b	T	A	2: 125,942,829 (GRCm39)	I323L	probably benign	Het
Far1	G	T	7: 113,153,503 (GRCm39)		probably benign	Het
Fmod	A	G	1: 133,968,934 (GRCm39)	I325V	possibly damaging	Het
Fshr	C	G	17: 89,316,713 (GRCm39)	S169T	probably benign	Het
Gm4076	G	T	13: 85,275,345 (GRCm39)		noncoding transcript	Het
Gm5134	A	T	10: 75,828,359 (GRCm39)	Y313F	probably benign	Het
H2-Q6	T	A	17: 35,644,179 (GRCm39)	F54I	probably damaging	Het
Hcrtr2	C	A	9: 76,161,954 (GRCm39)	L145F	probably damaging	Het
Hepacam2	A	G	6: 3,476,121 (GRCm39)	L268P	probably damaging	Het
Herc2	C	A	7: 55,834,117 (GRCm39)	C3107*	probably null	Het
Herc4	T	C	10: 63,099,811 (GRCm39)	V78A	probably damaging	Het
Hyal5	T	C	6: 24,877,920 (GRCm39)	W339R	probably damaging	Het
Igfbp6	T	A	15: 102,056,419 (GRCm39)		probably null	Het
Il18rap	A	T	1: 40,564,218 (GRCm39)	H112L	probably benign	Het
Il1r2	T	A	1: 40,162,309 (GRCm39)	Y317*	probably null	Het
Ints8	C	A	4: 11,246,097 (GRCm39)	V190L	probably benign	Het
Ipo11	T	C	13: 107,061,595 (GRCm39)	T22A	probably benign	Het
Itgb4	C	A	11: 115,870,521 (GRCm39)	R117S	probably benign	Het
Lcorl	C	G	5: 45,891,711 (GRCm39)	G214A	probably benign	Het
Lgals3bp	T	A	11: 118,289,019 (GRCm39)		probably null	Het
Lyst	T	A	13: 13,791,298 (GRCm39)	L54I	probably damaging	Het
Mcm9	T	C	10: 53,414,250 (GRCm39)	T1015A	probably benign	Het
Mef2d	T	A	3: 88,063,825 (GRCm39)	I84N	probably damaging	Het
Mmrn2	A	G	14: 34,119,913 (GRCm39)	N261S	probably damaging	Het
Mpdz	T	C	4: 81,210,768 (GRCm39)	T1693A	probably benign	Het
Mss51	T	A	14: 20,534,756 (GRCm39)	Q338L	possibly damaging	Het
Mstn	T	A	1: 53,103,143 (GRCm39)	Y160N	probably damaging	Het
Muc6	T	C	7: 141,226,735 (GRCm39)	T1431A	probably benign	Het
Or2ak6	G	A	11: 58,593,069 (GRCm39)	V181I	probably benign	Het
Or4f58	A	T	2: 111,851,777 (GRCm39)	C141S	probably damaging	Het
Or8b47	A	T	9: 38,435,801 (GRCm39)	M258L	probably benign	Het
Otog	G	T	7: 45,923,256 (GRCm39)	G1044W	probably damaging	Het
Pcdh9	G	A	14: 94,123,671 (GRCm39)	T833M	probably damaging	Het
Pdcd10	T	C	3: 75,434,958 (GRCm39)	K111R	probably damaging	Het
Pde5a	A	G	3: 122,542,107 (GRCm39)	N199S	probably damaging	Het
Plekhg1	T	C	10: 3,887,971 (GRCm39)	V355A	probably damaging	Het
Podn	G	T	4: 107,878,791 (GRCm39)	L359I	probably damaging	Het
Psd	T	C	19: 46,310,600 (GRCm39)	E483G	probably damaging	Het
Ptch2	T	A	4: 116,968,340 (GRCm39)	L905*	probably null	Het
Rxfp2	T	A	5: 149,989,880 (GRCm39)	N420K	probably damaging	Het
Scpppq1	C	A	5: 104,222,747 (GRCm39)	G24*	probably null	Het
Sde2	T	A	1: 180,689,992 (GRCm39)	D237E	probably benign	Het
Serpina1d	A	T	12: 103,732,016 (GRCm39)	L281Q	probably damaging	Het
Serpina9	T	C	12: 103,967,729 (GRCm39)	N222S	probably benign	Het
Sh3bgrl2	A	G	9: 83,459,612 (GRCm39)	K57E	probably damaging	Het
Shc3	C	T	13: 51,634,264 (GRCm39)		probably benign	Het
Sik3	T	C	9: 46,120,038 (GRCm39)	M659T	possibly damaging	Het
Slc23a2	A	G	2: 131,913,937 (GRCm39)	L280P	probably damaging	Het
Smchd1	G	T	17: 71,694,083 (GRCm39)	Q1221K	probably benign	Het
Spmip2	T	A	3: 79,313,093 (GRCm39)	W56R	probably damaging	Het
Spocd1	A	G	4: 129,849,263 (GRCm39)	N694S	possibly damaging	Het
Styxl2	C	A	1: 165,926,670 (GRCm39)	V981L	probably benign	Het
Tecta	T	C	9: 42,263,359 (GRCm39)	D1409G	probably damaging	Het
Tmem131	A	T	1: 36,880,754 (GRCm39)	V172D	probably damaging	Het
Trpm3	T	C	19: 22,964,237 (GRCm39)	M1244T	possibly damaging	Het
Ugcg	G	C	4: 59,217,036 (GRCm39)	V187L	possibly damaging	Het
Usp17le	T	C	7: 104,417,708 (GRCm39)	N478S	probably benign	Het
Usp36	A	G	11: 118,164,397 (GRCm39)	V205A	probably damaging	Het
Vmn1r25	T	A	6: 57,955,494 (GRCm39)	Q265L	probably damaging	Het
Vwf	A	T	6: 125,615,077 (GRCm39)	H1176L	probably benign	Het
Zfyve28	C	T	5: 34,389,550 (GRCm39)	D217N	possibly damaging	Het
Zranb3	A	C	1: 127,882,817 (GRCm39)		probably null	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
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
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'- TGATGACAAAGCCAGGTCCACAGG -3'
(R):5'- GCCTTCCGTAGACTGACAGCAAAC -3'

Sequencing Primer
(F):5'- ACTCTGTGTCTGCAAGTGAGC -3'
(R):5'- ACCCTGAGAGGTCAGACG -3'

Posted On

2013-06-12