Mutagenetix > Incidental Mutation

Incidental Mutation 'R5386:Nek8'

425254

Institutional Source

Beutler Lab

Gene Symbol

Nek8

Ensembl Gene

ENSMUSG00000017405

Gene Name

NIMA (never in mitosis gene a)-related expressed kinase 8

Synonyms

4632401F23Rik, b2b1449Clo

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R5386 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78056932-78067501 bp(-) (GRCm39)

Type of Mutation

splice site (750 bp from exon)

DNA Base Change (assembly)

T to C at 78061263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017530] [ENSMUST00000017549] [ENSMUST00000017549] [ENSMUST00000148154]

AlphaFold

Q91ZR4

Predicted Effect

probably benign
Transcript: ENSMUST00000017530

SMART Domains

Protein: ENSMUSP00000017530
Gene: ENSMUSG00000017386

Domain	Start	End	E-Value	Type
RING	18	57	1.41e-4	SMART
Pfam:zf-TRAF	102	156	3.4e-19	PFAM
Pfam:zf-TRAF	156	210	4e-12	PFAM
Pfam:zf-TRAF	210	269	4.2e-23	PFAM
low complexity region	287	302	N/A	INTRINSIC
MATH	312	445	1.04e-20	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000017549
AA Change: Q394R

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000017549
Gene: ENSMUSG00000017405
AA Change: Q394R

Domain	Start	End	E-Value	Type
S_TKc	4	258	1.59e-81	SMART
low complexity region	288	316	N/A	INTRINSIC
low complexity region	364	378	N/A	INTRINSIC
Pfam:RCC1	415	464	4.1e-12	PFAM
Pfam:RCC1_2	451	480	9.2e-10	PFAM
Pfam:RCC1	467	516	9.9e-16	PFAM
Pfam:RCC1	585	634	4.4e-15	PFAM
Pfam:RCC1	637	687	2e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000017549
AA Change: Q394R

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000017549
Gene: ENSMUSG00000017405
AA Change: Q394R

Domain	Start	End	E-Value	Type
S_TKc	4	258	1.59e-81	SMART
low complexity region	288	316	N/A	INTRINSIC
low complexity region	364	378	N/A	INTRINSIC
Pfam:RCC1	415	464	4.1e-12	PFAM
Pfam:RCC1_2	451	480	9.2e-10	PFAM
Pfam:RCC1	467	516	9.9e-16	PFAM
Pfam:RCC1	585	634	4.4e-15	PFAM
Pfam:RCC1	637	687	2e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125528

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141444

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147798

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149437

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152611

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148218

Predicted Effect

probably null
Transcript: ENSMUST00000148154

SMART Domains

Protein: ENSMUSP00000127554
Gene: ENSMUSG00000017405

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	103	4.1e-20	PFAM
Pfam:Pkinase_Tyr	1	103	3.2e-12	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a NIMA-related kinase. Members of this serine/threonine protein kinase family are structurally-related to NIMA (never in mitosis, gene A) which controls mitotic signaling in Aspergillus nidulans. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice display kidney cysts primarily in the cortex, progressive kidney enlargement, increased serum creatinine levels, impaired maternal nurturing, and premature death. Heterotaxy with congenital heart disease such as hypoplastic right ventricle and small tricuspid valve is seen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 134 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	G	8: 87,244,118 (GRCm39)	K1012Q	possibly damaging	Het
Afmid	G	A	11: 117,718,968 (GRCm39)	G33R	probably benign	Het
Agbl3	G	T	6: 34,776,131 (GRCm39)	W207C	probably damaging	Het
Ajuba	T	C	14: 54,807,855 (GRCm39)	Y459C	probably damaging	Het
Ak2	T	C	4: 128,901,965 (GRCm39)	S213P	probably benign	Het
Alk	T	A	17: 72,182,007 (GRCm39)	N1339Y	probably damaging	Het
Angpt1	T	C	15: 42,301,761 (GRCm39)	S416G	probably damaging	Het
Ank2	C	T	3: 126,775,582 (GRCm39)	V854M	probably benign	Het
Ankrd61	G	T	5: 143,828,482 (GRCm39)	N122K	possibly damaging	Het
Armc9	T	A	1: 86,126,011 (GRCm39)	L34Q	probably null	Het
Aspg	T	A	12: 112,089,466 (GRCm39)	V418E	probably benign	Het
Baz1b	C	T	5: 135,266,913 (GRCm39)	R1241C	probably damaging	Het
Bclaf1	T	C	10: 20,201,338 (GRCm39)	V201A	possibly damaging	Het
C1ql3	A	T	2: 13,009,169 (GRCm39)	D225E	probably damaging	Het
Capn9	A	G	8: 125,332,279 (GRCm39)	T417A	possibly damaging	Het
Card14	C	T	11: 119,208,115 (GRCm39)	R62C	probably damaging	Het
Cc2d2a	A	G	5: 43,887,383 (GRCm39)	N1271S	probably benign	Het
Ccpg1	G	A	9: 72,920,326 (GRCm39)	S647N	probably benign	Het
Cdv3	T	C	9: 103,232,429 (GRCm39)	K133R	possibly damaging	Het
Cep128	A	C	12: 90,966,345 (GRCm39)	S1087R	probably benign	Het
Cep70	T	A	9: 99,163,128 (GRCm39)	L325Q	probably damaging	Het
Chit1	T	G	1: 134,077,192 (GRCm39)	F332V	probably damaging	Het
Chodl	C	A	16: 78,743,585 (GRCm39)	T219K	probably damaging	Het
Cntn4	T	C	6: 106,158,765 (GRCm39)	L10P	possibly damaging	Het
Copg1	G	T	6: 87,867,189 (GRCm39)	M87I	possibly damaging	Het
Cplane1	G	A	15: 8,223,897 (GRCm39)	G887R	probably damaging	Het
Cyp3a59	A	G	5: 146,022,578 (GRCm39)	Y28C	probably benign	Het
Dchs1	A	C	7: 105,407,236 (GRCm39)	V2119G	probably damaging	Het
Dedd	T	C	1: 171,165,951 (GRCm39)	L23P	probably damaging	Het
Dmxl2	A	G	9: 54,286,041 (GRCm39)	S2715P	probably benign	Het
Dnah9	T	C	11: 65,920,182 (GRCm39)	N2237S	probably damaging	Het
Drosha	A	G	15: 12,842,207 (GRCm39)	I337V	probably benign	Het
Duox2	A	G	2: 122,125,617 (GRCm39)	V330A	probably benign	Het
Dusp11	T	C	6: 85,924,587 (GRCm39)	*322W	probably null	Het
Dusp8	T	A	7: 141,643,730 (GRCm39)	Q61L	possibly damaging	Het
Ears2	G	C	7: 121,643,600 (GRCm39)	T426S	probably benign	Het
Elmo1	T	C	13: 20,784,380 (GRCm39)	Y646H	probably benign	Het
Eps15	T	A	4: 109,178,422 (GRCm39)	I220K	possibly damaging	Het
Faap100	T	A	11: 120,268,458 (GRCm39)	E105V	possibly damaging	Het
Fam171a2	C	A	11: 102,328,693 (GRCm39)	V689L	possibly damaging	Het
Fam91a1	G	A	15: 58,320,243 (GRCm39)	S645N	probably benign	Het
Fancg	G	A	4: 43,007,076 (GRCm39)	Q234*	probably null	Het
Garre1	A	G	7: 33,941,813 (GRCm39)	F120L	probably damaging	Het
Gid4	T	A	11: 60,323,268 (GRCm39)		probably null	Het
Gm7361	A	C	5: 26,463,903 (GRCm39)	T53P	probably benign	Het
Golgb1	T	A	16: 36,732,677 (GRCm39)	C641*	probably null	Het
Gon4l	T	A	3: 88,765,803 (GRCm39)	M409K	probably benign	Het
Gpatch8	A	T	11: 102,399,053 (GRCm39)		probably null	Het
Gpr156	T	A	16: 37,768,671 (GRCm39)	V64E	possibly damaging	Het
Grid2	T	A	6: 63,908,089 (GRCm39)	I243K	probably damaging	Het
Gucy2g	G	A	19: 55,203,548 (GRCm39)	A750V	probably damaging	Het
Hdac5	T	C	11: 102,092,967 (GRCm39)	E590G	possibly damaging	Het
Herc3	T	A	6: 58,851,263 (GRCm39)	M504K	probably damaging	Het
Hif1a	A	G	12: 73,990,867 (GRCm39)	E713G	probably benign	Het
Hmx3	A	G	7: 131,146,033 (GRCm39)	D247G	probably damaging	Het
Hoxd11	G	T	2: 74,513,163 (GRCm39)	E143*	probably null	Het
Ifitm3	T	C	7: 140,590,554 (GRCm39)	N2S	probably benign	Het
Il17f	T	C	1: 20,848,181 (GRCm39)	Q99R	probably benign	Het
Itga6	T	A	2: 71,671,494 (GRCm39)	S341R	probably damaging	Het
Itgam	A	G	7: 127,707,152 (GRCm39)	N661S	probably benign	Het
Jag1	A	T	2: 136,937,464 (GRCm39)	H303Q	possibly damaging	Het
Kcnh8	T	A	17: 53,033,023 (GRCm39)	N103K	probably benign	Het
Kdm6b	T	C	11: 69,291,636 (GRCm39)		probably benign	Het
Keg1	A	C	19: 12,691,902 (GRCm39)	N63T	probably damaging	Het
Klf12	T	A	14: 100,137,595 (GRCm39)	H317L	probably damaging	Het
Lrp1	A	T	10: 127,427,983 (GRCm39)	V530E	probably damaging	Het
Mrgpra6	A	G	7: 46,838,629 (GRCm39)	C190R	probably damaging	Het
Myo1a	G	T	10: 127,541,766 (GRCm39)	E102*	probably null	Het
Napa	A	T	7: 15,850,397 (GRCm39)	E265D	probably benign	Het
Ncam1	A	C	9: 49,476,174 (GRCm39)	V305G	probably damaging	Het
Or10ag53	C	T	2: 87,082,827 (GRCm39)	P182L	probably benign	Het
Or11g24	T	A	14: 50,662,846 (GRCm39)	V290E	possibly damaging	Het
Or4a70	G	T	2: 89,324,481 (GRCm39)	Y58*	probably null	Het
Or4f52	T	C	2: 111,061,539 (GRCm39)	T200A	probably benign	Het
Or52a20	T	C	7: 103,366,562 (GRCm39)	F254L	probably benign	Het
Or5ak4	T	C	2: 85,161,979 (GRCm39)	T88A	probably benign	Het
Or5h23	T	A	16: 58,906,253 (GRCm39)	M198L	probably benign	Het
Or8c11	A	T	9: 38,289,281 (GRCm39)	I29F	probably benign	Het
Or8g2b	A	G	9: 39,751,126 (GRCm39)	Y132C	possibly damaging	Het
Pabpc4	A	G	4: 123,188,790 (GRCm39)	Q417R	probably benign	Het
Panx3	A	T	9: 37,580,320 (GRCm39)	M11K	probably damaging	Het
Pcbp1	C	T	6: 86,502,471 (GRCm39)	E143K	probably damaging	Het
Pdcd7	G	A	9: 65,265,974 (GRCm39)	W477*	probably null	Het
Pi4k2a	G	A	19: 42,078,954 (GRCm39)	S5N	probably damaging	Het
Plag1	T	A	4: 3,904,075 (GRCm39)	Q372L	probably benign	Het
Plce1	C	A	19: 38,748,535 (GRCm39)	N1755K	probably damaging	Het
Pld4	G	T	12: 112,730,422 (GRCm39)	E102*	probably null	Het
Pnlip	A	G	19: 58,668,039 (GRCm39)	N345S	probably benign	Het
Ppm1e	A	T	11: 87,249,377 (GRCm39)	L118Q	possibly damaging	Het
Prkra	T	G	2: 76,469,622 (GRCm39)	T146P	probably damaging	Het
Prpf8	A	G	11: 75,386,625 (GRCm39)	D1038G	probably damaging	Het
Prss51	T	A	14: 64,334,543 (GRCm39)	V108E	probably damaging	Het
Prxl2b	T	A	4: 154,983,462 (GRCm39)	M1L	probably benign	Het
Ptch1	A	G	13: 63,692,857 (GRCm39)	Y181H	probably damaging	Het
Reln	A	G	5: 22,244,527 (GRCm39)	V817A	probably benign	Het
Rictor	C	A	15: 6,818,985 (GRCm39)	Q1403K	probably benign	Het
Rims1	T	A	1: 22,482,469 (GRCm39)	I882F	probably damaging	Het
Rnf19a	A	G	15: 36,242,185 (GRCm39)	V618A	probably benign	Het
Ryr1	A	T	7: 28,816,841 (GRCm39)	I65N	probably damaging	Het
S1pr2	T	C	9: 20,878,890 (GRCm39)	T313A	probably benign	Het
Serpine2	A	T	1: 79,799,004 (GRCm39)	Y83*	probably null	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,103,384 (GRCm39)		probably benign	Het
Sgip1	T	C	4: 102,772,256 (GRCm39)	V215A	probably benign	Het
Sgsm3	T	C	15: 80,892,200 (GRCm39)	V256A	probably benign	Het
Shroom4	T	A	X: 6,497,523 (GRCm39)	C894*	probably null	Het
Slc14a2	T	A	18: 78,229,055 (GRCm39)	D306V	possibly damaging	Het
Slc28a2b	C	A	2: 122,353,259 (GRCm39)	L480I	probably benign	Het
Slc4a10	A	T	2: 62,120,402 (GRCm39)	E843V	probably damaging	Het
Smyd4	T	A	11: 75,280,982 (GRCm39)	C152S	probably damaging	Het
Snx10	T	C	6: 51,552,952 (GRCm39)	Y32H	probably damaging	Het
Sorl1	T	C	9: 41,968,580 (GRCm39)	T558A	possibly damaging	Het
Spata31d1b	G	A	13: 59,866,866 (GRCm39)	C1338Y	possibly damaging	Het
Sppl2c	T	A	11: 104,078,127 (GRCm39)	I309K	possibly damaging	Het
Stard9	A	G	2: 120,531,111 (GRCm39)	E2456G	probably damaging	Het
Stx1b	A	T	7: 127,414,575 (GRCm39)	D16E	probably benign	Het
Tecpr2	T	C	12: 110,881,887 (GRCm39)	V152A	probably damaging	Het
Tedc1	T	C	12: 113,120,302 (GRCm39)	V47A	probably benign	Het
Tep1	A	T	14: 51,105,774 (GRCm39)	L82Q	probably damaging	Het
Tgm4	A	G	9: 122,885,559 (GRCm39)	Y367C	probably damaging	Het
Tle1	C	T	4: 72,060,081 (GRCm39)	V258M	probably damaging	Het
Tm9sf1	C	T	14: 55,880,301 (GRCm39)	G32D	possibly damaging	Het
Tmco2	A	G	4: 120,963,181 (GRCm39)	L106P	probably damaging	Het
Tmem131	A	T	1: 36,911,639 (GRCm39)	C103S	possibly damaging	Het
Tmprss7	T	A	16: 45,489,891 (GRCm39)	I444F	possibly damaging	Het
Trank1	T	C	9: 111,191,470 (GRCm39)	V493A	probably benign	Het
Trim80	A	T	11: 115,338,843 (GRCm39)	T558S	probably benign	Het
Trmt6	C	A	2: 132,650,703 (GRCm39)	A302S	probably benign	Het
Ttc17	A	T	2: 94,133,985 (GRCm39)	W1067R	probably damaging	Het
Tulp4	T	A	17: 6,286,568 (GRCm39)	V1532D	probably damaging	Het
Ubqlnl	T	G	7: 103,798,424 (GRCm39)	I358L	probably benign	Het
Ulk3	T	A	9: 57,498,023 (GRCm39)	I108N	possibly damaging	Het
Vps13b	A	T	15: 35,640,674 (GRCm39)		probably null	Het
Vwa3a	A	G	7: 120,389,365 (GRCm39)	K68E	possibly damaging	Het
Zfp746	G	T	6: 48,041,110 (GRCm39)	H538N	possibly damaging	Het

Other mutations in Nek8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00426:Nek8	APN	11	78,058,653 (GRCm39)	missense	probably damaging	0.96
IGL00914:Nek8	APN	11	78,063,901 (GRCm39)	missense	possibly damaging	0.80
nerkkod	UTSW	11	78,063,885 (GRCm39)	missense	probably damaging	1.00
R0136:Nek8	UTSW	11	78,062,033 (GRCm39)	missense	probably benign	0.01
R0490:Nek8	UTSW	11	78,058,555 (GRCm39)	missense	probably benign	0.01
R0657:Nek8	UTSW	11	78,062,033 (GRCm39)	missense	probably benign	0.01
R1033:Nek8	UTSW	11	78,062,111 (GRCm39)	missense	probably null	1.00
R2848:Nek8	UTSW	11	78,058,967 (GRCm39)	missense	probably damaging	1.00
R3406:Nek8	UTSW	11	78,061,572 (GRCm39)	nonsense	probably null
R4211:Nek8	UTSW	11	78,061,309 (GRCm39)	missense	probably benign
R4810:Nek8	UTSW	11	78,058,629 (GRCm39)	missense	probably benign	0.00
R4811:Nek8	UTSW	11	78,058,544 (GRCm39)	splice site	probably null
R5108:Nek8	UTSW	11	78,063,353 (GRCm39)	missense	probably damaging	0.96
R5124:Nek8	UTSW	11	78,063,765 (GRCm39)	missense	probably damaging	1.00
R5177:Nek8	UTSW	11	78,061,297 (GRCm39)	nonsense	probably null
R5212:Nek8	UTSW	11	78,063,342 (GRCm39)	start codon destroyed	probably null	0.02
R5921:Nek8	UTSW	11	78,063,885 (GRCm39)	missense	probably damaging	1.00
R5977:Nek8	UTSW	11	78,058,651 (GRCm39)	missense	probably benign	0.01
R8010:Nek8	UTSW	11	78,067,422 (GRCm39)	missense	probably damaging	1.00
R8195:Nek8	UTSW	11	78,061,587 (GRCm39)	missense	possibly damaging	0.77
R8784:Nek8	UTSW	11	78,063,375 (GRCm39)	missense	probably damaging	1.00
R9189:Nek8	UTSW	11	78,063,342 (GRCm39)	missense	probably benign	0.38
R9555:Nek8	UTSW	11	78,067,390 (GRCm39)	missense	probably benign	0.21
X0026:Nek8	UTSW	11	78,058,931 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GCTGCCACTACTAGATAGAAAGAG -3'
(R):5'- GAGGTTGCCAATGCTCAACAC -3'

Sequencing Primer
(F):5'- GAGAGAAGTTACACTGTCTGG -3'
(R):5'- ATGCTCAACACGGAGGTGGTC -3'

Posted On

2016-08-04