Mutagenetix > Incidental Mutation

Incidental Mutation 'R9261:Nek9'

702275

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

068990-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9261 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85346288-85386136 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85359841 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 537 (V537A)

Ref Sequence

ENSEMBL: ENSMUSP00000049056 (fasta)

Gene Model

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

AlphaFold

Q8K1R7

Predicted Effect

probably damaging
Transcript: ENSMUST00000040992
AA Change: V537A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000049056
Gene: ENSMUSG00000034290
AA Change: V537A

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: 98.8%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	A	G	9: 90,075,397 (GRCm39)	E1043G	probably benign	Het
Agps	T	G	2: 75,684,850 (GRCm39)		probably benign	Het
Ahnak	A	G	19: 8,993,503 (GRCm39)	E4929G	possibly damaging	Het
Arl6ip4	T	A	5: 124,256,146 (GRCm39)		probably benign	Het
Cdhr17	T	C	5: 17,006,547 (GRCm39)	L88P	possibly damaging	Het
Clca3a2	G	T	3: 144,525,158 (GRCm39)	H25N	probably benign	Het
Cubn	C	T	2: 13,283,262 (GRCm39)	D3559N	probably damaging	Het
Dmac2	T	A	7: 25,320,345 (GRCm39)	W15R	probably benign	Het
Dzank1	T	C	2: 144,355,344 (GRCm39)	E117G	probably benign	Het
Eml2	A	G	7: 18,913,743 (GRCm39)	T187A	probably benign	Het
Eml5	A	G	12: 98,822,287 (GRCm39)	V747A	probably damaging	Het
Esr1	T	A	10: 4,919,271 (GRCm39)	S454T	probably damaging	Het
Evc2	A	G	5: 37,537,895 (GRCm39)	T528A	probably benign	Het
Fbxo5	T	C	10: 5,752,325 (GRCm39)	N96S	probably damaging	Het
Fcnb	T	C	2: 27,969,636 (GRCm39)	T144A	probably damaging	Het
Fgf20	T	A	8: 40,739,951 (GRCm39)		probably benign	Het
Gcg	T	C	2: 62,306,408 (GRCm39)		probably benign	Het
Gfm2	T	A	13: 97,299,369 (GRCm39)	Y363*	probably null	Het
Grwd1	C	T	7: 45,475,381 (GRCm39)	R387Q	probably benign	Het
Gstt2	C	T	10: 75,669,511 (GRCm39)	D59N	possibly damaging	Het
Herc1	A	G	9: 66,412,129 (GRCm39)	N4783S	probably damaging	Het
Hydin	C	A	8: 110,994,047 (GRCm39)	A27E	unknown	Het
Iigp1c	T	A	18: 60,353,820 (GRCm39)		probably benign	Het
Ikbip	A	G	10: 90,932,249 (GRCm39)	T298A	possibly damaging	Het
Il1rap	A	G	16: 26,541,724 (GRCm39)	N655S	possibly damaging	Het
Kif21b	C	T	1: 136,077,162 (GRCm39)	R395C	probably damaging	Het
Kif3a	ATTGACG	A	11: 53,484,248 (GRCm39)		probably benign	Het
Klhl40	A	G	9: 121,609,002 (GRCm39)	D389G	probably benign	Het
Ly6g	A	G	15: 75,030,529 (GRCm39)	T116A	probably damaging	Het
Mast2	A	G	4: 116,165,900 (GRCm39)	L1276P	probably damaging	Het
Mitf	A	G	6: 97,990,704 (GRCm39)	Q369R	possibly damaging	Het
Mtus2	T	A	5: 148,243,453 (GRCm39)	Y192*	probably null	Het
Nav1	T	A	1: 135,388,095 (GRCm39)	E1109D	unknown	Het
Nav2	A	G	7: 49,246,904 (GRCm39)	E2143G	probably damaging	Het
Nedd4	A	G	9: 72,584,656 (GRCm39)	Q119R	possibly damaging	Het
Notum	G	T	11: 120,550,974 (GRCm39)	T64K		Het
Nudcd2	A	G	11: 40,630,026 (GRCm39)	N144S	probably damaging	Het
Nup205	A	G	6: 35,176,792 (GRCm39)	E596G	probably benign	Het
Olfml1	T	A	7: 107,167,007 (GRCm39)	L12Q	possibly damaging	Het
Or4f60	T	A	2: 111,902,718 (GRCm39)	D70V	probably damaging	Het
Or51k1	C	T	7: 103,661,336 (GRCm39)	C191Y	probably damaging	Het
Or52n2c	A	T	7: 104,574,305 (GRCm39)	M222K	probably benign	Het
Or56b2	T	A	7: 104,337,260 (GRCm39)	F13I	probably benign	Het
Or6b13	A	G	7: 139,782,563 (GRCm39)	V40A	probably benign	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Padi4	T	C	4: 140,479,926 (GRCm39)	N409S	probably damaging	Het
Pam	T	A	1: 97,903,620 (GRCm39)	T38S	probably benign	Het
Piezo2	T	C	18: 63,208,868 (GRCm39)	I1382V	possibly damaging	Het
Pla2g12a	A	T	3: 129,684,080 (GRCm39)	Q153L	possibly damaging	Het
Pla2g4e	T	A	2: 120,019,910 (GRCm39)	H180L	probably benign	Het
Pou2af2	T	A	9: 51,202,998 (GRCm39)	H52L	probably benign	Het
Pprc1	A	G	19: 46,050,868 (GRCm39)	T169A	unknown	Het
Prrc2c	A	G	1: 162,505,622 (GRCm39)	I2592T	possibly damaging	Het
Ptchd3	T	A	11: 121,722,956 (GRCm39)	I348N	probably damaging	Het
Ralgps1	T	C	2: 33,226,571 (GRCm39)	D40G	probably damaging	Het
Rbm19	T	C	5: 120,256,810 (GRCm39)	F41S	probably damaging	Het
Rbsn	T	C	6: 92,166,797 (GRCm39)	M616V	probably benign	Het
Ryr1	A	T	7: 28,751,813 (GRCm39)	M3660K	possibly damaging	Het
Sidt2	A	T	9: 45,861,396 (GRCm39)	V246E	probably damaging	Het
Slc4a4	T	C	5: 89,347,568 (GRCm39)	W770R	probably damaging	Het
Spata31d1c	T	A	13: 65,184,680 (GRCm39)	S741T	probably damaging	Het
Stk19	T	G	17: 35,051,432 (GRCm39)	Y108S	possibly damaging	Het
Stox2	T	C	8: 47,645,441 (GRCm39)	E673G	possibly damaging	Het
Tax1bp1	T	A	6: 52,714,116 (GRCm39)	C271S	probably benign	Het
Tmem161a	C	A	8: 70,631,572 (GRCm39)	R167S	probably damaging	Het
Tnrc6c	T	A	11: 117,605,105 (GRCm39)	V80E	probably damaging	Het
Trpa1	G	A	1: 14,963,465 (GRCm39)	H586Y	probably damaging	Het
Tsr1	A	G	11: 74,799,056 (GRCm39)	T746A	probably damaging	Het
Uqcrfs1	T	C	13: 30,724,794 (GRCm39)	I249V	probably damaging	Het
Vmn2r84	C	A	10: 130,229,976 (GRCm39)	E45D	probably benign	Het
Vnn3	A	G	10: 23,741,607 (GRCm39)	E304G	probably damaging	Het
Zfp541	G	A	7: 15,816,029 (GRCm39)	V839M	possibly damaging	Het
Zfp62	A	G	11: 49,108,350 (GRCm39)	K814E	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
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
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'- CCGCGGTCACTAACTTATAATACG -3'
(R):5'- CCTCAAAGAGACTAACCGGGAG -3'

Sequencing Primer
(F):5'- TTATAATACGAAAGAAATCCCAACCC -3'
(R):5'- GGGAGCATCCGTCCATTCATC -3'

Posted On

2022-03-25