Mutagenetix > Incidental Mutation

Incidental Mutation 'R4811:Nek8'

369449

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

MMRRC Submission

042430-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R4811 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

78056932-78067501 bp(-) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 78058544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000017549 (fasta)

Gene Model

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

SMART Domains

Protein: ENSMUSP00000017549
Gene: ENSMUSG00000017405

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: ENSMUST00000152611

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148218

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149437

Predicted Effect

probably benign
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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	G	A	15: 37,425,952 (GRCm39)		probably benign	Het
Adam3	C	T	8: 25,201,740 (GRCm39)	G208R	probably benign	Het
Arsg	G	T	11: 109,424,898 (GRCm39)	V290L	probably benign	Het
Cad	A	G	5: 31,232,034 (GRCm39)	T104A	probably benign	Het
Ccdc180	A	G	4: 45,928,020 (GRCm39)	N1185S	probably damaging	Het
Cdh18	A	G	15: 23,226,877 (GRCm39)	T113A	probably benign	Het
Crocc2	G	A	1: 93,133,618 (GRCm39)	A967T	probably damaging	Het
Cyp4f16	A	G	17: 32,764,080 (GRCm39)	T291A	probably benign	Het
Dcc	T	A	18: 71,432,554 (GRCm39)	H1300L	probably benign	Het
Ddx23	T	A	15: 98,545,352 (GRCm39)		probably null	Het
Dnhd1	T	G	7: 105,363,488 (GRCm39)	S4017A	probably damaging	Het
Erbb4	A	T	1: 68,293,703 (GRCm39)	F729L	probably damaging	Het
Ercc6	G	T	14: 32,296,886 (GRCm39)	R1292L	probably benign	Het
Fam186b	C	T	15: 99,178,118 (GRCm39)	V403M	probably benign	Het
Fam227a	T	C	15: 79,499,628 (GRCm39)	N576D	possibly damaging	Het
Fbln1	A	G	15: 85,111,167 (GRCm39)		probably null	Het
Fbxw17	T	C	13: 50,579,669 (GRCm39)	V162A	probably benign	Het
Gas2l1	A	C	11: 5,014,436 (GRCm39)	I8S	probably damaging	Het
Golgb1	T	C	16: 36,711,781 (GRCm39)	L195P	probably damaging	Het
Gps2	A	T	11: 69,806,754 (GRCm39)	H233L	probably damaging	Het
Guf1	T	G	5: 69,721,852 (GRCm39)		probably null	Het
H2-T9	A	G	17: 36,438,668 (GRCm39)	L241S	probably damaging	Het
Il1rap	T	A	16: 26,519,988 (GRCm39)		probably null	Het
Ints14	A	G	9: 64,871,800 (GRCm39)	Y46C	probably damaging	Het
Kalrn	T	G	16: 34,177,339 (GRCm39)	Q293H	probably damaging	Het
Kank2	A	G	9: 21,687,043 (GRCm39)	L593P	probably damaging	Het
Krt19	T	C	11: 100,032,174 (GRCm39)	T297A	possibly damaging	Het
Lcp1	T	C	14: 75,437,848 (GRCm39)	V86A	probably damaging	Het
Lins1	T	A	7: 66,357,898 (GRCm39)	I11K	probably benign	Het
Lrba	T	C	3: 86,683,448 (GRCm39)	F2757L	probably damaging	Het
Lyst	T	C	13: 13,951,685 (GRCm39)	I3762T	probably benign	Het
Lyzl6	A	G	11: 103,525,851 (GRCm39)	S90P	possibly damaging	Het
Mfsd2a	T	A	4: 122,853,175 (GRCm39)	Q38L	probably benign	Het
Mtss1	A	G	15: 58,815,922 (GRCm39)	F546S	probably damaging	Het
Myo5a	G	A	9: 75,048,825 (GRCm39)		probably null	Het
Naip6	C	A	13: 100,422,299 (GRCm39)	G1245W	probably damaging	Het
Ndfip1	C	T	18: 38,584,645 (GRCm39)	T107I	probably benign	Het
Nphs1	T	C	7: 30,159,854 (GRCm39)	V55A	probably damaging	Het
Nrp2	C	A	1: 62,758,240 (GRCm39)	H75Q	probably damaging	Het
Oas1e	C	T	5: 120,933,448 (GRCm39)	S39N	probably damaging	Het
Or13g1	T	C	7: 85,956,166 (GRCm39)	T52A	probably benign	Het
Or2y1e	T	G	11: 49,218,575 (GRCm39)	S112R	possibly damaging	Het
Or5d37	A	G	2: 87,923,876 (GRCm39)	F135L	probably benign	Het
Or7h8	A	T	9: 20,124,049 (GRCm39)	I135F	probably damaging	Het
Pan3	T	A	5: 147,466,868 (GRCm39)	H632Q	probably damaging	Het
Paqr3	A	C	5: 97,243,842 (GRCm39)	S291A	probably benign	Het
Pcdh17	A	C	14: 84,685,375 (GRCm39)	D614A	probably damaging	Het
Pcyox1l	T	C	18: 61,830,606 (GRCm39)	E422G	possibly damaging	Het
Pgr	G	T	9: 8,900,844 (GRCm39)	E126*	probably null	Het
Pik3ap1	A	G	19: 41,290,936 (GRCm39)	V532A	possibly damaging	Het
Pla2g4c	T	C	7: 13,071,738 (GRCm39)	I186T	probably damaging	Het
Pnkd	G	A	1: 74,388,564 (GRCm39)		probably null	Het
Poc1a	A	G	9: 106,226,908 (GRCm39)	T334A	probably damaging	Het
Pou2f2	T	A	7: 24,797,111 (GRCm39)	K211*	probably null	Het
Rdh13	T	C	7: 4,445,652 (GRCm39)	E94G	probably benign	Het
Rnf186	A	G	4: 138,694,498 (GRCm39)	S13G	probably benign	Het
Ryr2	T	C	13: 11,670,584 (GRCm39)	R3471G	probably damaging	Het
Sbf2	T	C	7: 109,971,742 (GRCm39)	T831A	probably damaging	Het
Sh3gl2	A	G	4: 85,316,403 (GRCm39)		probably benign	Het
Shoc1	T	C	4: 59,082,404 (GRCm39)	N408S	probably benign	Het
Snn	T	C	16: 10,890,397 (GRCm39)	V72A	probably benign	Het
Sys1	T	A	2: 164,306,344 (GRCm39)	H99Q	possibly damaging	Het
Syt7	A	G	19: 10,412,931 (GRCm39)	K122R	probably damaging	Het
Tas1r2	T	A	4: 139,396,311 (GRCm39)	L550Q	probably damaging	Het
Tent5b	T	C	4: 133,213,681 (GRCm39)	L184P	probably benign	Het
Thoc1	T	C	18: 9,993,438 (GRCm39)	I599T	probably damaging	Het
Tle3	C	T	9: 61,281,279 (GRCm39)		probably benign	Het
Tll1	A	C	8: 64,538,507 (GRCm39)	V379G	possibly damaging	Het
Tnfrsf21	G	A	17: 43,348,621 (GRCm39)	E78K	probably benign	Het
Tpgs2	A	G	18: 25,262,897 (GRCm39)		probably benign	Het
Trpm1	T	C	7: 63,858,054 (GRCm39)	L165P	probably damaging	Het
Trpm5	T	C	7: 142,633,956 (GRCm39)	Y750C	probably damaging	Het
Ttbk2	A	C	2: 120,570,551 (GRCm39)	S1201A	possibly damaging	Het
Ust	T	A	10: 8,121,705 (GRCm39)	H301L	probably damaging	Het
Vwa5a	T	C	9: 38,647,249 (GRCm39)	F543L	probably benign	Het
Yeats2	T	A	16: 19,971,645 (GRCm39)		probably null	Het
Zfp85	T	C	13: 67,897,745 (GRCm39)	Y109C	probably damaging	Het
Zfr2	T	A	10: 81,079,547 (GRCm39)	V362E	probably benign	Het
Znrf3	A	T	11: 5,237,420 (GRCm39)	C134S	probably benign	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
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
R5386:Nek8	UTSW	11	78,061,263 (GRCm39)	splice site	probably null
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'- ACCATCTTGATGCCCTCCAG -3'
(R):5'- AACTTCTGGCTCCATCCTTAGG -3'

Sequencing Primer
(F):5'- AGGCCTTGGACCCGACAG -3'
(R):5'- TCCTTAGGTTCAACAAGCTAGGC -3'

Posted On

2016-02-04