Mutagenetix > Incidental Mutation

Incidental Mutation 'R1884:Nek9'

209376

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

039905-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1884 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85346288-85386136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85379330 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 192 (L192P)

Ref Sequence

ENSEMBL: ENSMUSP00000049056 (fasta)

Gene Model

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

AlphaFold

Q8K1R7

Predicted Effect

probably damaging
Transcript: ENSMUST00000040992
AA Change: L192P

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

SMART Domains

Protein: ENSMUSP00000049056
Gene: ENSMUSG00000034290
AA Change: L192P

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

Meta Mutation Damage Score

0.9739

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.3%

Validation Efficiency

99% (94/95)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	T	C	9: 103,991,684 (GRCm39)	M573T	probably benign	Het
Ank3	A	G	10: 69,851,422 (GRCm39)	T1162A	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Arpp21	T	A	9: 111,972,595 (GRCm39)	D232V	probably damaging	Het
Atg2a	T	C	19: 6,304,414 (GRCm39)	Y1144H	probably damaging	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
Brs3	T	C	X: 56,092,449 (GRCm39)	I311T	probably benign	Het
Cenpf	C	T	1: 189,379,046 (GRCm39)	V2915I	probably benign	Het
Cep170	G	T	1: 176,602,245 (GRCm39)	T287K	probably benign	Het
Chst2	G	A	9: 95,287,611 (GRCm39)	T245I	probably damaging	Het
Cnot4	C	T	6: 35,055,092 (GRCm39)	V66I	probably damaging	Het
Cntn4	A	G	6: 106,656,353 (GRCm39)	T885A	probably benign	Het
Col20a1	C	T	2: 180,634,703 (GRCm39)	T131I	possibly damaging	Het
Coro7	G	T	16: 4,446,683 (GRCm39)		probably benign	Het
Cpne8	C	A	15: 90,532,831 (GRCm39)		probably benign	Het
Dbnl	G	A	11: 5,749,247 (GRCm39)	G356E	probably benign	Het
Ddx31	T	A	2: 28,749,002 (GRCm39)	I266N	probably damaging	Het
Dnah7a	A	T	1: 53,580,159 (GRCm39)	I1592N	probably damaging	Het
Dok6	A	T	18: 89,492,130 (GRCm39)	L149Q	probably damaging	Het
Eri2	G	A	7: 119,390,346 (GRCm39)	T94I	probably benign	Het
Ermp1	A	G	19: 29,594,079 (GRCm39)	V697A	probably benign	Het
Foxc1	C	T	13: 31,991,648 (GRCm39)	T153M	probably damaging	Het
Fry	A	G	5: 150,326,985 (GRCm39)	I1224V	probably benign	Het
Fzd5	G	A	1: 64,774,813 (GRCm39)	T316M	probably damaging	Het
Gcm1	G	T	9: 77,966,861 (GRCm39)	V27L	probably benign	Het
Gm5773	A	T	3: 93,681,348 (GRCm39)	D340V	probably benign	Het
Gucy2d	T	A	7: 98,100,815 (GRCm39)	H379Q	probably benign	Het
Hectd1	T	A	12: 51,847,738 (GRCm39)	M392L	probably benign	Het
Itpr2	A	C	6: 146,287,469 (GRCm39)	D452E	probably benign	Het
Krtap2-4	G	C	11: 99,505,505 (GRCm39)		probably benign	Het
Lrit1	T	C	14: 36,783,710 (GRCm39)	V346A	possibly damaging	Het
Lrrk1	A	G	7: 65,912,185 (GRCm39)	S1792P	probably benign	Het
Marveld2	A	T	13: 100,737,129 (GRCm39)	V168E	probably benign	Het
Ms4a4b	T	A	19: 11,438,629 (GRCm39)	D149E	probably damaging	Het
Myom2	G	A	8: 15,164,278 (GRCm39)	D1058N	probably benign	Het
Ncam2	C	T	16: 81,234,571 (GRCm39)	P142L	probably damaging	Het
Nol10	T	C	12: 17,418,390 (GRCm39)		probably null	Het
Nrcam	T	C	12: 44,591,538 (GRCm39)	V194A	probably damaging	Het
Nudt6	A	G	3: 37,466,549 (GRCm39)	V82A	probably benign	Het
Odf2l	A	T	3: 144,856,809 (GRCm39)	N492I	probably damaging	Het
Or2a12	T	C	6: 42,904,764 (GRCm39)	S200P	probably damaging	Het
Or51f1d	T	C	7: 102,701,189 (GRCm39)	I228T	probably benign	Het
Pkn3	T	C	2: 29,972,840 (GRCm39)	V276A	probably damaging	Het
Prl3b1	T	G	13: 27,431,886 (GRCm39)	L137R	possibly damaging	Het
Rab11fip2	A	G	19: 59,925,762 (GRCm39)	F10L	probably damaging	Het
Rab3b	T	A	4: 108,786,649 (GRCm39)	V133E	probably damaging	Het
Rnf111	A	T	9: 70,383,520 (GRCm39)	S138T	probably damaging	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Runx1t1	A	G	4: 13,835,767 (GRCm39)	T75A	probably benign	Het
Ryr2	T	G	13: 11,753,242 (GRCm39)	K1693T	probably damaging	Het
Sdha	A	T	13: 74,481,255 (GRCm39)	I317N	probably damaging	Het
Serpina1d	T	A	12: 103,732,037 (GRCm39)	D274V	possibly damaging	Het
Setd2	T	G	9: 110,385,486 (GRCm39)		probably null	Het
Sh3tc2	A	G	18: 62,141,646 (GRCm39)	Y1109C	probably damaging	Het
Sik3	C	G	9: 46,132,387 (GRCm39)	H1276Q	probably benign	Het
Slc22a2	A	G	17: 12,833,713 (GRCm39)		probably benign	Het
Slc35f4	A	T	14: 49,551,091 (GRCm39)	W108R	probably damaging	Het
Slc4a1ap	A	G	5: 31,691,524 (GRCm39)	E440G	probably damaging	Het
Slc6a4	A	G	11: 76,904,201 (GRCm39)	T219A	probably benign	Het
Stxbp5	C	A	10: 9,688,042 (GRCm39)	V420F	possibly damaging	Het
Svil	T	G	18: 5,094,640 (GRCm39)	V1440G	possibly damaging	Het
Tas2r126	A	T	6: 42,411,961 (GRCm39)	T165S	probably benign	Het
Tbck	T	C	3: 132,430,677 (GRCm39)		probably null	Het
Tnxb	T	A	17: 34,908,539 (GRCm39)	D1520E	probably benign	Het
Top1mt	C	T	15: 75,539,750 (GRCm39)	R287H	possibly damaging	Het
Trdn	A	G	10: 33,133,091 (GRCm39)	K314E	probably benign	Het
Troap	T	A	15: 98,975,779 (GRCm39)	C233S	probably benign	Het
Usp28	T	C	9: 48,947,247 (GRCm39)	M571T	probably damaging	Het
Vac14	A	G	8: 111,438,319 (GRCm39)	H644R	probably damaging	Het
Vipr1	C	T	9: 121,494,930 (GRCm39)	P327L	possibly damaging	Het
Vmn1r31	C	T	6: 58,449,029 (GRCm39)	V279I	probably damaging	Het
Vmn1r69	G	A	7: 10,314,678 (GRCm39)	R18W	probably benign	Het
Vmn2r18	G	T	5: 151,499,190 (GRCm39)	Q425K	probably benign	Het
Vmn2r60	T	C	7: 41,786,094 (GRCm39)	V299A	probably damaging	Het
Vps13b	A	T	15: 35,430,437 (GRCm39)		probably benign	Het
Zfp157	A	G	5: 138,443,102 (GRCm39)	D31G	probably damaging	Het
Zfp385c	A	C	11: 100,521,532 (GRCm39)	V176G	probably benign	Het
Zfp831	A	G	2: 174,545,870 (GRCm39)	H1325R	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
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'- TACGACCTCCATATGCATCATGTG -3'
(R):5'- AACCCTGTGAGCGAAACCAG -3'

Sequencing Primer
(F):5'- TTATAGCTCTTGCAGAGGACCCAG -3'
(R):5'- GAAACCAGGAGATGCTAACACTC -3'

Posted On

2014-06-30