Mutagenetix > Incidental Mutation

Incidental Mutation 'R0257:Nek5'

98857

Institutional Source

Beutler Lab

Gene Symbol

Nek5

Ensembl Gene

ENSMUSG00000037738

Gene Name

NIMA (never in mitosis gene a)-related expressed kinase 5

Synonyms

MMRRC Submission

038488-MU

Accession Numbers

Genbank: NM_177898.4; Ensembl: ENSMUST00000081815, ENSMUST00000169834

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R0257 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

22073616-22125053 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 22123672 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033865] [ENSMUST00000110730] [ENSMUST00000169834] [ENSMUST00000178324] [ENSMUST00000209656]

AlphaFold

Q7TSC3

Predicted Effect

probably benign
Transcript: ENSMUST00000033865

SMART Domains

Protein: ENSMUSP00000033865
Gene: ENSMUSG00000031478

Domain	Start	End	E-Value	Type
S_TKc	4	259	1.11e-89	SMART
Blast:S_TKc	267	444	8e-49	BLAST
low complexity region	471	485	N/A	INTRINSIC
low complexity region	495	506	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110730

SMART Domains

Protein: ENSMUSP00000106358
Gene: ENSMUSG00000031478

Domain	Start	End	E-Value	Type
S_TKc	4	259	1.11e-89	SMART
Blast:S_TKc	267	446	1e-48	BLAST
low complexity region	473	487	N/A	INTRINSIC
low complexity region	497	508	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169834

SMART Domains

Protein: ENSMUSP00000126705
Gene: ENSMUSG00000037738

Domain	Start	End	E-Value	Type
S_TKc	4	255	3.77e-92	SMART
Blast:S_TKc	396	497	3e-37	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000178324

SMART Domains

Protein: ENSMUSP00000136876
Gene: ENSMUSG00000031478

Domain	Start	End	E-Value	Type
S_TKc	4	259	1.11e-89	SMART
Blast:S_TKc	267	446	1e-48	BLAST
low complexity region	473	487	N/A	INTRINSIC
low complexity region	497	508	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000209656

Predicted Effect

probably benign
Transcript: ENSMUST00000210824

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.5%
3x: 97.5%
10x: 95.7%
20x: 92.2%

Validation Efficiency

99% (67/68)

MGI Phenotype

PHENOTYPE: Mice homozygous for an ENU-induced mutation exhibit progressive hearing impairment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Aatf	T	A	11: 84,510,281	E171D	probably benign	Het
Adgre5	T	A	8: 83,731,995	H134L	possibly damaging	Het
Ahsg	A	T	16: 22,899,040	M256L	probably benign	Het
Alk	A	T	17: 72,603,495	L72Q	probably damaging	Het
Ano2	C	A	6: 125,880,713	A505E	probably benign	Het
Bcas3	A	G	11: 85,822,039	K908E	probably benign	Het
C3ar1	A	G	6: 122,850,787	V157A	probably benign	Het
Car2	C	G	3: 14,899,977	H224D	probably benign	Het
Cfh	T	C	1: 140,144,035	D287G	probably benign	Het
Disp3	G	T	4: 148,250,754	N944K	possibly damaging	Het
Dlg1	A	G	16: 31,842,853		probably benign	Het
Dmbt1	A	G	7: 131,106,393	E1281G	probably damaging	Het
Dmxl1	T	A	18: 49,955,803		probably benign	Het
Dtx3	T	C	10: 127,192,892	D159G	probably benign	Het
Ets2	T	A	16: 95,712,201	C140*	probably null	Het
Fbf1	T	C	11: 116,155,091	I226V	probably benign	Het
Fgd6	T	A	10: 94,043,915	H210Q	probably benign	Het
Fktn	A	G	4: 53,734,898	T179A	probably benign	Het
Galnt10	T	C	11: 57,781,078	M398T	probably damaging	Het
Grk5	G	T	19: 61,076,630		probably benign	Het
Gse1	A	G	8: 120,572,334		probably benign	Het
Hmcn2	T	C	2: 31,369,164		probably benign	Het
Iqgap2	A	G	13: 95,724,544		probably null	Het
Lama4	T	C	10: 39,094,884		probably benign	Het
Luzp2	A	G	7: 55,249,446	T271A	probably benign	Het
Mdn1	T	A	4: 32,693,534	V1053D	probably damaging	Het
Mrm1	A	C	11: 84,814,823		probably benign	Het
Msh5	G	C	17: 35,032,864	R407G	probably damaging	Het
Myo1c	A	T	11: 75,665,516		probably null	Het
Nrxn2	A	G	19: 6,490,698	I894V	possibly damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Pde4a	C	T	9: 21,192,421	P175L	probably damaging	Het
Pip5k1c	C	A	10: 81,315,096	A628E	possibly damaging	Het
Piwil2	C	T	14: 70,422,631	S139N	probably benign	Het
Prob1	T	C	18: 35,653,039	K721E	possibly damaging	Het
Rps6ka2	C	A	17: 7,227,983	S57Y	probably damaging	Het
Rxfp1	C	T	3: 79,682,535	V100M	possibly damaging	Het
Serpinb9e	A	T	13: 33,257,681	M199L	probably benign	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc4a8	G	A	15: 100,784,880		probably benign	Het
Sned1	A	T	1: 93,265,097	S369C	possibly damaging	Het
St18	T	A	1: 6,819,962	F539L	probably benign	Het
Stam2	C	T	2: 52,694,782	G500D	possibly damaging	Het
Stx16	G	A	2: 174,096,961	V307M	probably benign	Het
Svep1	G	A	4: 58,179,610	S211L	possibly damaging	Het
Tcf12	C	T	9: 71,858,622	S512N	probably benign	Het
Tiam2	T	C	17: 3,450,813	V909A	possibly damaging	Het
Tmem64	C	T	4: 15,266,343	A131V	probably damaging	Het
Tnrc6b	C	A	15: 80,894,355	N1176K	possibly damaging	Het
Trrap	C	T	5: 144,804,235	S1264L	probably benign	Het
Ttn	T	A	2: 76,810,431	T13658S	possibly damaging	Het
Vmn2r104	G	A	17: 20,029,627	T794I	probably damaging	Het
Vmn2r52	T	A	7: 10,171,055	R286*	probably null	Het
Vps53	A	T	11: 76,177,385		probably benign	Het
Wdr18	A	G	10: 79,961,119		probably benign	Het
Wdr31	A	G	4: 62,460,518		probably null	Het
Zfp458	T	A	13: 67,259,642	K47*	probably null	Het
Zfp983	A	G	17: 21,661,440	T95A	probably benign	Het

Other mutations in Nek5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:Nek5	APN	8	22111183	missense	possibly damaging	0.75
IGL01418:Nek5	APN	8	22095269	missense	probably damaging	1.00
IGL01485:Nek5	APN	8	22083369	missense	probably benign	0.05
IGL01640:Nek5	APN	8	22120840	missense	probably benign	0.00
IGL01894:Nek5	APN	8	22113819	missense	probably damaging	1.00
IGL01958:Nek5	APN	8	22096826	missense	probably benign	0.09
IGL02332:Nek5	APN	8	22095261	missense	probably benign	0.14
IGL02718:Nek5	APN	8	22097463	missense	probably benign	0.15
IGL03203:Nek5	APN	8	22118768	missense	probably damaging	1.00
IGL03325:Nek5	APN	8	22079142	missense	probably benign
R0522:Nek5	UTSW	8	22088797	splice site	probably benign
R0525:Nek5	UTSW	8	22079077	unclassified	probably benign
R1476:Nek5	UTSW	8	22096731	missense	possibly damaging	0.86
R1483:Nek5	UTSW	8	22096790	missense	probably benign	0.30
R1764:Nek5	UTSW	8	22109912	missense	probably damaging	0.98
R1892:Nek5	UTSW	8	22107729	missense	probably benign	0.11
R1989:Nek5	UTSW	8	22111169	missense	probably damaging	1.00
R2229:Nek5	UTSW	8	22113632	missense	possibly damaging	0.76
R4114:Nek5	UTSW	8	22111162	missense	probably damaging	1.00
R4116:Nek5	UTSW	8	22111162	missense	probably damaging	1.00
R4709:Nek5	UTSW	8	22083427	missense	probably damaging	0.99
R4952:Nek5	UTSW	8	22079088	missense	probably benign	0.00
R4952:Nek5	UTSW	8	22096799	missense	probably benign	0.00
R5185:Nek5	UTSW	8	22083381	missense	possibly damaging	0.78
R5816:Nek5	UTSW	8	22096736	missense	probably benign	0.02
R5884:Nek5	UTSW	8	22088801	critical splice donor site	probably null
R6009:Nek5	UTSW	8	22120822	missense	probably benign	0.00
R6279:Nek5	UTSW	8	22107721	missense	probably benign
R6300:Nek5	UTSW	8	22107721	missense	probably benign
R6437:Nek5	UTSW	8	22085460	missense	possibly damaging	0.95
R7034:Nek5	UTSW	8	22107723	missense	probably benign	0.00
R7036:Nek5	UTSW	8	22107723	missense	probably benign	0.00
R7278:Nek5	UTSW	8	22090484	missense	probably benign	0.13
R7436:Nek5	UTSW	8	22108040	missense	probably damaging	1.00
R7666:Nek5	UTSW	8	22090517	missense	probably benign	0.12
R7827:Nek5	UTSW	8	22083387	missense	possibly damaging	0.91
R8057:Nek5	UTSW	8	22088906	missense	probably benign	0.21
R8350:Nek5	UTSW	8	22113672	missense	probably damaging	0.98
R8847:Nek5	UTSW	8	22123579	missense	probably benign	0.01
R8888:Nek5	UTSW	8	22090479	critical splice donor site	probably null
R8933:Nek5	UTSW	8	22111210	missense	probably damaging	1.00
R8933:Nek5	UTSW	8	22120843	missense	probably damaging	1.00
R9353:Nek5	UTSW	8	22073945	missense	probably benign	0.00
R9574:Nek5	UTSW	8	22074024	missense	probably benign	0.00
R9745:Nek5	UTSW	8	22083463	missense	probably benign	0.04
X0012:Nek5	UTSW	8	22095248	missense	possibly damaging	0.92

Predicted Primers

Posted On

2014-01-10