Mutagenetix > Incidental Mutation

Incidental Mutation 'R5977:Nek8'

481206

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

044159-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.903) question?

Stock #

R5977 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78056932-78067501 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 78058651 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 550 (V550M)

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 benign
Transcript: ENSMUST00000017549
AA Change: V550M

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000017549
Gene: ENSMUSG00000017405
AA Change: V550M

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: ENSMUST00000148218

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152611

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

Meta Mutation Damage Score

0.1900

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

97% (72/74)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,451,106 (GRCm39)	R446S	probably damaging	Het
2900092C05Rik	A	T	7: 12,288,664 (GRCm39)	H159L	probably benign	Het
4933405O20Rik	G	A	7: 50,249,838 (GRCm39)	V291I	probably damaging	Het
A2ml1	A	G	6: 128,558,085 (GRCm39)	Y24H	probably damaging	Het
Adgrv1	C	T	13: 81,583,678 (GRCm39)		probably null	Het
Ankrd52	C	T	10: 128,218,566 (GRCm39)	H351Y	probably damaging	Het
Anks6	C	A	4: 47,035,748 (GRCm39)	A588S	probably benign	Het
Arl15	T	G	13: 114,070,645 (GRCm39)	V80G	probably damaging	Het
Atp8a1	A	G	5: 67,904,628 (GRCm39)	I532T	possibly damaging	Het
Birc6	T	C	17: 74,910,031 (GRCm39)	C1475R	probably damaging	Het
Carmil1	C	T	13: 24,253,719 (GRCm39)	R394Q	probably damaging	Het
Cbfa2t2	T	C	2: 154,359,697 (GRCm39)	I254T	probably damaging	Het
Cemip2	A	G	19: 21,803,447 (GRCm39)	T827A	probably benign	Het
Col6a3	A	G	1: 90,749,571 (GRCm39)	V421A	possibly damaging	Het
Cped1	T	C	6: 22,254,607 (GRCm39)	V1000A	probably damaging	Het
Cr1l	A	T	1: 194,797,076 (GRCm39)	Y282*	probably null	Het
Cryl1	G	T	14: 57,620,236 (GRCm39)	T43K	probably benign	Het
Csmd2	C	T	4: 127,952,827 (GRCm39)	P92L	probably damaging	Het
Ddx60	G	A	8: 62,474,444 (GRCm39)		probably null	Het
Dhrs7b	C	T	11: 60,743,328 (GRCm39)	R187*	probably null	Het
Dmtf1	T	C	5: 9,190,451 (GRCm39)	T88A	probably damaging	Het
Dnah2	T	C	11: 69,411,707 (GRCm39)	E305G	possibly damaging	Het
Dscaml1	A	C	9: 45,632,596 (GRCm39)	N1154T	probably benign	Het
Efhc1	A	G	1: 21,030,442 (GRCm39)	Y125C	probably damaging	Het
Egflam	T	A	15: 7,347,726 (GRCm39)	Y68F	possibly damaging	Het
Gcm2	A	G	13: 41,256,603 (GRCm39)	V382A	probably damaging	Het
Gm18358	A	G	7: 84,739,756 (GRCm39)		noncoding transcript	Het
Gm3443	T	G	19: 21,534,960 (GRCm39)	I75S	probably benign	Het
Gpr182	C	A	10: 127,586,748 (GRCm39)	V68F	possibly damaging	Het
Herc1	T	A	9: 66,340,604 (GRCm39)	M1651K	possibly damaging	Het
Hey1	A	T	3: 8,731,418 (GRCm39)		probably null	Het
Ighv1-43	A	C	12: 114,909,829 (GRCm39)	V31G	probably benign	Het
Il17rc	T	C	6: 113,459,692 (GRCm39)	V450A	probably damaging	Het
Kbtbd4	T	G	2: 90,736,487 (GRCm39)	V166G	probably benign	Het
Marveld2	T	C	13: 100,748,197 (GRCm39)	N294S	possibly damaging	Het
Mtdh	A	G	15: 34,099,720 (GRCm39)	K61E	probably damaging	Het
Muc5ac	T	C	7: 141,350,104 (GRCm39)	S616P	possibly damaging	Het
Myh15	T	C	16: 48,973,866 (GRCm39)	L1292P	probably damaging	Het
Nup155	T	A	15: 8,159,721 (GRCm39)		probably null	Het
Or2y17	G	A	11: 49,231,592 (GRCm39)	V78M	probably damaging	Het
Or7c70	A	T	10: 78,683,572 (GRCm39)	M59K	possibly damaging	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Papln	G	A	12: 83,831,143 (GRCm39)	W1099*	probably null	Het
Pcdhb17	A	G	18: 37,618,720 (GRCm39)	Y170C	probably damaging	Het
Pramel12	T	C	4: 143,144,229 (GRCm39)	Y192H	probably benign	Het
Prss39	T	G	1: 34,541,783 (GRCm39)	C287G	probably damaging	Het
Pyroxd2	A	G	19: 42,723,911 (GRCm39)	V338A	probably damaging	Het
Rab19	T	A	6: 39,360,860 (GRCm39)	F3I	probably benign	Het
Relt	A	G	7: 100,512,355 (GRCm39)		probably benign	Het
Sbf2	T	A	7: 109,977,193 (GRCm39)	H647L	probably benign	Het
Scube1	C	T	15: 83,513,689 (GRCm39)	C327Y	probably damaging	Het
Sec14l4	A	C	11: 3,990,055 (GRCm39)	Q118P	possibly damaging	Het
Shisa9	C	G	16: 12,085,292 (GRCm39)	D300E	probably benign	Het
Smg1	A	G	7: 117,740,580 (GRCm39)		probably benign	Het
Sncaip	A	G	18: 53,002,393 (GRCm39)	T305A	probably benign	Het
Sorcs3	T	C	19: 48,784,889 (GRCm39)	V1104A	probably damaging	Het
Ugt1a6b	C	T	1: 88,143,982 (GRCm39)	R201C	probably damaging	Het
Unc119b	A	G	5: 115,268,612 (GRCm39)	V91A	probably benign	Het
Uvssa	A	G	5: 33,547,204 (GRCm39)	K257E	probably damaging	Het
Vmn1r199	A	C	13: 22,567,416 (GRCm39)	M237L	probably benign	Het
Vmn1r69	G	A	7: 10,314,417 (GRCm39)	R26W	probably damaging	Het
Vmn2r54	A	G	7: 12,366,143 (GRCm39)	F264L	probably damaging	Het
Vmn2r7	C	T	3: 64,623,464 (GRCm39)	W285*	probably null	Het
Vmn2r78	T	A	7: 86,569,541 (GRCm39)	S145T	possibly damaging	Het
Vmn2r78	T	A	7: 86,604,115 (GRCm39)	N764K	probably benign	Het
Wdr5b	T	G	16: 35,862,374 (GRCm39)	H164Q	probably damaging	Het
Zcchc7	G	A	4: 44,894,982 (GRCm39)	V236I	possibly damaging	Het
Zfp729b	G	A	13: 67,739,740 (GRCm39)	R842C	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
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'- GTATAGCAGTCCCCAGAAGCTG -3'
(R):5'- AGGTTCAGAGCCTTAGGATTTG -3'

Sequencing Primer
(F):5'- TCCCCAGAAGCTGTGGAGAC -3'
(R):5'- CAGAGCCTTAGGATTTGTCTCTTG -3'

Posted On

2017-06-26