Mutagenetix > Incidental Mutation

Incidental Mutation 'R8195:Nek8'

635412

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

067618-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R8195 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78056932-78067501 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 78061587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 314 (P314Q)

Ref Sequence

ENSEMBL: ENSMUSP00000017549 (fasta)

Gene Model

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

AlphaFold

Q91ZR4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017549
AA Change: P314Q

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000017549
Gene: ENSMUSG00000017405
AA Change: P314Q

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 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

Meta Mutation Damage Score

0.0983

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (53/53)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,224,735 (GRCm39)	G483R	probably benign	Het
Abca9	T	C	11: 110,029,155 (GRCm39)	D801G	probably benign	Het
Aldob	T	C	4: 49,538,822 (GRCm39)	N232S	probably damaging	Het
Ankhd1	T	C	18: 36,787,230 (GRCm39)	V322A		Het
Arfgef1	T	C	1: 10,243,478 (GRCm39)	K1024E	probably damaging	Het
Arhgef40	T	A	14: 52,226,226 (GRCm39)	V90E	probably damaging	Het
Cblc	A	T	7: 19,519,262 (GRCm39)	S399R	possibly damaging	Het
Ccdc17	T	A	4: 116,456,211 (GRCm39)	I368K	possibly damaging	Het
Ccdc17	T	A	4: 116,456,213 (GRCm39)	W369R	probably damaging	Het
Cd276	G	A	9: 58,444,755 (GRCm39)	T72I	probably damaging	Het
Cdk14	C	T	5: 5,277,159 (GRCm39)		probably null	Het
Cfap61	C	T	2: 145,789,095 (GRCm39)	S33L	probably benign	Het
Cmtm2a	A	G	8: 105,019,670 (GRCm39)	F7L	probably benign	Het
Eif2ak4	T	C	2: 118,280,819 (GRCm39)	I1062T	possibly damaging	Het
Fcnb	C	T	2: 27,968,330 (GRCm39)	S209N	possibly damaging	Het
Fxr1	A	T	3: 34,101,878 (GRCm39)	E204V	probably damaging	Het
Fzd6	T	A	15: 38,894,959 (GRCm39)	L375Q	probably damaging	Het
Ggta1	T	A	2: 35,312,279 (GRCm39)	E33V	probably damaging	Het
Gnb1l	T	A	16: 18,362,965 (GRCm39)	I119N	probably benign	Het
Gpsm1	A	G	2: 26,214,929 (GRCm39)		probably null	Het
Hecw1	A	G	13: 14,480,692 (GRCm39)	I885T	probably damaging	Het
Itgb8	T	C	12: 119,131,905 (GRCm39)	D580G	probably damaging	Het
Kbtbd12	T	A	6: 88,594,913 (GRCm39)	T306S	possibly damaging	Het
Kctd1	C	T	18: 15,196,300 (GRCm39)	E108K	unknown	Het
Lrrc36	A	G	8: 106,178,717 (GRCm39)	D304G	possibly damaging	Het
Lrrn2	A	G	1: 132,865,082 (GRCm39)	E49G	probably damaging	Het
Lysmd2	C	A	9: 75,533,310 (GRCm39)	Y88*	probably null	Het
Lzts3	A	G	2: 130,477,105 (GRCm39)	S448P	probably benign	Het
Meioc	T	A	11: 102,565,893 (GRCm39)	L447*	probably null	Het
Mybpc1	A	G	10: 88,394,553 (GRCm39)	I244T	possibly damaging	Het
Necab3	G	A	2: 154,389,363 (GRCm39)	A160V	probably benign	Het
Nlrp5	A	G	7: 23,112,762 (GRCm39)	T140A	probably benign	Het
Or10p21	T	C	10: 128,847,444 (GRCm39)	C97R	probably damaging	Het
Or52ac1	A	T	7: 104,246,133 (GRCm39)	F85Y	probably damaging	Het
Or7e169	A	T	9: 19,757,780 (GRCm39)	I45N	probably damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Pgm3	G	A	9: 86,452,374 (GRCm39)	R29W	probably damaging	Het
Ppp2r3d	A	G	9: 101,090,231 (GRCm39)	C31R	probably damaging	Het
Prom1	C	T	5: 44,194,770 (GRCm39)	S334N	possibly damaging	Het
Rai14	C	T	15: 10,575,302 (GRCm39)	S581N	probably benign	Het
Rbm46	C	T	3: 82,772,775 (GRCm39)	R119Q	probably benign	Het
Rgs16	T	C	1: 153,616,689 (GRCm39)	F42S	probably benign	Het
Slc2a6	T	G	2: 26,917,838 (GRCm39)	E27A	probably benign	Het
Slc38a1	G	A	15: 96,490,447 (GRCm39)	S110L	probably benign	Het
Sox30	C	T	11: 45,882,592 (GRCm39)	R541C	probably benign	Het
Sptbn4	C	A	7: 27,108,314 (GRCm39)	E703*	probably null	Het
Tjp1	A	T	7: 64,993,470 (GRCm39)	F34L	probably damaging	Het
Trim65	T	C	11: 116,017,037 (GRCm39)	Q475R	probably benign	Het
Ttc38	A	T	15: 85,728,716 (GRCm39)	R223*	probably null	Het
Tulp1	T	C	17: 28,583,300 (GRCm39)	Q80R	probably benign	Het
Utp23	T	C	15: 51,745,598 (GRCm39)	F139L	possibly damaging	Het
Vmn1r121	A	T	7: 20,832,228 (GRCm39)	F71I	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Zdbf2	T	C	1: 63,343,225 (GRCm39)	S535P	possibly damaging	Het
Zfp788	T	G	7: 41,298,801 (GRCm39)	M479R	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
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
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
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'- AACTCCTGAGAACCTTGCTG -3'
(R):5'- TGAGGCCCCTTTGTATTCCG -3'

Sequencing Primer
(F):5'- TGAGAACCTTGCTGGGCTC -3'
(R):5'- CAGGGCAGAGAAGTCCCTGAC -3'

Posted On

2020-07-13