Mutagenetix > Incidental Mutation

Incidental Mutation 'R5921:Nek8'

461592

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

044118-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.922) question?

Stock #

R5921 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78056932-78067501 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78063885 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 40 (M40T)

Ref Sequence

ENSEMBL: ENSMUSP00000017549 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017549] [ENSMUST00000098545] [ENSMUST00000148154]

AlphaFold

Q91ZR4

Predicted Effect

probably damaging
Transcript: ENSMUST00000017549
AA Change: M40T

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

SMART Domains

Protein: ENSMUSP00000017549
Gene: ENSMUSG00000017405
AA Change: M40T

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: ENSMUST00000098545

SMART Domains

Protein: ENSMUSP00000096145
Gene: ENSMUSG00000019437

Domain	Start	End	E-Value	Type
TLC	40	207	5.98e-33	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147798

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152611

Meta Mutation Damage Score

0.2704

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.7%

Validation Efficiency

95% (70/74)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	G	A	5: 35,969,555 (GRCm39)	V223M	probably damaging	Het
Adamts7	T	C	9: 90,070,747 (GRCm39)	S623P	probably benign	Het
Aqp7	G	T	4: 41,036,093 (GRCm39)	N48K	probably benign	Het
Asic4	A	G	1: 75,428,017 (GRCm39)	N181S	probably benign	Het
Blvra	A	T	2: 126,929,283 (GRCm39)		probably benign	Het
Bmf	C	A	2: 118,363,034 (GRCm39)		probably benign	Het
Bnc2	A	T	4: 84,211,292 (GRCm39)	I454N	possibly damaging	Het
Catsperg1	A	T	7: 28,889,948 (GRCm39)	L700H	possibly damaging	Het
Ccdc14	T	C	16: 34,526,761 (GRCm39)	V222A	probably damaging	Het
Cfap97d2	G	T	8: 13,784,840 (GRCm39)	A34S	probably damaging	Het
Clstn3	A	T	6: 124,408,539 (GRCm39)		probably benign	Het
Col15a1	A	T	4: 47,300,602 (GRCm39)	I1066F	probably damaging	Het
Dcdc2c	T	C	12: 28,574,774 (GRCm39)	E116G	possibly damaging	Het
Dop1a	G	A	9: 86,383,975 (GRCm39)	S310N	probably damaging	Het
Dync1h1	T	A	12: 110,584,802 (GRCm39)	V735E	probably damaging	Het
Eva1a	T	C	6: 82,069,140 (GRCm39)	Y156H	probably damaging	Het
Fbxw26	A	G	9: 109,575,086 (GRCm39)	I13T	probably damaging	Het
Fermt2	A	T	14: 45,702,203 (GRCm39)	L527Q	probably damaging	Het
Fxyd4	G	A	6: 117,913,099 (GRCm39)		probably benign	Het
Gal	A	G	19: 3,460,100 (GRCm39)	S124P	probably damaging	Het
Glmp	T	C	3: 88,233,283 (GRCm39)	S56P	probably benign	Het
Gm5600	T	C	7: 113,307,413 (GRCm39)		noncoding transcript	Het
Golga2	A	G	2: 32,187,767 (GRCm39)	N194S	probably benign	Het
Gon4l	T	C	3: 88,817,254 (GRCm39)		probably benign	Het
Gtf2ird2	T	A	5: 134,246,426 (GRCm39)	Y895N	probably damaging	Het
Hsd3b1	C	A	3: 98,765,215 (GRCm39)	M22I	probably benign	Het
Ipo13	A	C	4: 117,769,286 (GRCm39)	L169V	probably benign	Het
Kif13a	G	T	13: 46,978,776 (GRCm39)	T208K	probably damaging	Het
Klhl5	G	T	5: 65,320,299 (GRCm39)	A618S	probably damaging	Het
Lrig2	A	T	3: 104,370,070 (GRCm39)	L496*	probably null	Het
Macf1	A	G	4: 123,420,504 (GRCm39)	I250T	probably benign	Het
Man1a	A	G	10: 53,783,606 (GRCm39)	I632T	probably damaging	Het
Nav2	A	G	7: 48,954,324 (GRCm39)		probably benign	Het
Oas3	T	C	5: 120,908,046 (GRCm39)	D298G	probably damaging	Het
Ociad1	A	G	5: 73,467,725 (GRCm39)	D167G	probably benign	Het
Or14j4	A	T	17: 37,921,110 (GRCm39)	C177*	probably null	Het
Or8s5	T	C	15: 98,238,310 (GRCm39)	T187A	probably benign	Het
Or9s13	T	A	1: 92,548,344 (GRCm39)	S239T	probably benign	Het
Pafah2	G	T	4: 134,145,380 (GRCm39)	V255L	probably benign	Het
Pde10a	A	G	17: 9,149,369 (GRCm39)	Y407C	probably damaging	Het
Pirb	A	C	7: 3,719,693 (GRCm39)	Y484*	probably null	Het
Prl8a6	A	G	13: 27,621,171 (GRCm39)	S20P	probably damaging	Het
R3hdm4	A	T	10: 79,749,453 (GRCm39)	V52E	probably damaging	Het
Rab3ip	A	G	10: 116,775,152 (GRCm39)	Y69H	probably damaging	Het
Rxrg	T	C	1: 167,466,808 (GRCm39)	M330T	possibly damaging	Het
Sema4g	G	T	19: 44,987,143 (GRCm39)	G460V	probably benign	Het
Sidt1	T	C	16: 44,094,098 (GRCm39)		probably benign	Het
Slc12a2	T	A	18: 58,065,595 (GRCm39)	D943E	probably benign	Het
Slc12a4	T	C	8: 106,671,876 (GRCm39)		probably null	Het
Slc4a3	T	G	1: 75,534,088 (GRCm39)		probably null	Het
Slc4a8	C	T	15: 100,712,328 (GRCm39)		probably benign	Het
Srcap	T	A	7: 127,158,005 (GRCm39)		probably benign	Het
Stk39	A	G	2: 68,196,449 (GRCm39)	S327P	probably damaging	Het
Tbc1d5	G	A	17: 51,270,721 (GRCm39)	T170M	probably damaging	Het
Trim13	T	A	14: 61,842,538 (GRCm39)	F185Y	probably benign	Het
Ttc17	A	G	2: 94,209,193 (GRCm39)	V87A	probably damaging	Het
Ttn	A	T	2: 76,551,207 (GRCm39)	M31395K	possibly damaging	Het
Usp34	T	A	11: 23,414,686 (GRCm39)	D2876E	probably damaging	Het
Uvssa	T	C	5: 33,547,096 (GRCm39)	S221P	probably benign	Het
Vmn2r93	T	A	17: 18,546,030 (GRCm39)	L634Q	probably damaging	Het
Vmp1	C	T	11: 86,477,336 (GRCm39)	A355T	probably benign	Het
Xpo5	A	T	17: 46,532,347 (GRCm39)	M461L	probably benign	Het
Zfp759	T	A	13: 67,288,558 (GRCm39)	F703Y	probably 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
R5386:Nek8	UTSW	11	78,061,263 (GRCm39)	splice site	probably null
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'- AACTCTGTACGTCTGGCCTC -3'
(R):5'- GCCCCGCTTAATCATCTCAG -3'

Sequencing Primer
(F):5'- AATGGTGTCCGGCTCTCCTG -3'
(R):5'- ATCATCTCAGAACTGTGTGGC -3'

Posted On

2017-02-28