Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02332:Nek5'

288720

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nek5

Ensembl Gene

ENSMUSG00000037738

Gene Name

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

Synonyms

Accession Numbers

Genbank: NM_177898.4; Ensembl: ENSMUST00000081815, ENSMUST00000169834

Is this an essential gene?

Probably non essential (E-score: 0.137) question?

Stock #

IGL02332

Quality Score

Status

Chromosome

Chromosomal Location

22073616-22125053 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 22095261 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 367 (Q367K)

Ref Sequence

ENSEMBL: ENSMUSP00000148211 (fasta)

Gene Model

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

AlphaFold

Q7TSC3

Predicted Effect

probably benign
Transcript: ENSMUST00000169834
AA Change: Q367K

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000126705
Gene: ENSMUSG00000037738
AA Change: Q367K

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: ENSMUST00000209656
AA Change: Q367K

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000210824

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213644

Coding Region Coverage

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B24Rik	A	G	3: 48,608,888		noncoding transcript	Het
Abca13	A	T	11: 9,291,482	Y1115F	probably damaging	Het
Adam29	T	A	8: 55,871,740	I560F	probably damaging	Het
Bivm	T	C	1: 44,128,720		probably benign	Het
Brinp1	C	A	4: 68,904,884	R24L	probably benign	Het
Cnga1	A	G	5: 72,604,486	Y562H	probably damaging	Het
Cr2	C	A	1: 195,160,322	Q256H	probably benign	Het
Dhcr7	A	T	7: 143,843,128	N119I	probably damaging	Het
Dio1	A	T	4: 107,293,781	Y169N	probably damaging	Het
Dmbt1	C	T	7: 131,066,613		probably benign	Het
Eogt	T	G	6: 97,125,605	H249P	probably damaging	Het
Ermard	A	C	17: 14,990,545		probably null	Het
Exoc4	T	C	6: 33,249,240		probably null	Het
Fxr2	G	T	11: 69,649,838		probably null	Het
Glyr1	G	T	16: 5,018,953	T443N	probably damaging	Het
Gm14137	T	G	2: 119,175,326	L122R	probably damaging	Het
Gm4845	C	A	1: 141,256,597		noncoding transcript	Het
Gm8258	A	G	5: 104,775,902		noncoding transcript	Het
Gmps	G	A	3: 63,990,569	R258H	probably benign	Het
Itga6	T	G	2: 71,838,373	L552R	possibly damaging	Het
Itgam	T	A	7: 128,085,674		probably null	Het
Itgb5	G	T	16: 33,920,130	E224*	probably null	Het
Itih4	C	A	14: 30,887,860	A49D	probably damaging	Het
Itpr2	A	T	6: 146,426,542	N64K	probably damaging	Het
Moap1	T	C	12: 102,742,807	Y161C	probably benign	Het
Mst1r	G	T	9: 107,907,826	G228*	probably null	Het
Myo1g	T	C	11: 6,520,766	D30G	possibly damaging	Het
Ndn	T	A	7: 62,348,825	C140S	probably damaging	Het
Nrd1	A	T	4: 109,000,988	R52S	probably damaging	Het
Nup133	A	T	8: 123,907,832	L1007Q	probably damaging	Het
Olfr1105	T	C	2: 87,034,212	D3G	probably benign	Het
Olfr633	T	C	7: 103,946,920	M118T	probably damaging	Het
Olfr74	A	T	2: 87,974,065	L200Q	probably damaging	Het
P2rx2	T	C	5: 110,341,805	S116G	probably benign	Het
Pcdhb13	G	A	18: 37,443,582	V338M	probably benign	Het
Pdcl2	A	T	5: 76,319,135	Y70*	probably null	Het
Ppm1e	T	C	11: 87,231,742	H463R	probably benign	Het
Ppm1f	T	A	16: 16,914,087	C134S	possibly damaging	Het
Ppp2r3a	A	G	9: 101,180,403	F180L	possibly damaging	Het
Pxn	A	G	5: 115,544,926	S96G	probably benign	Het
Rasa4	G	T	5: 136,095,599	Q167H	probably benign	Het
Rfx8	T	C	1: 39,718,480	I43V	possibly damaging	Het
Sez6	C	T	11: 77,954,742		probably benign	Het
Slc39a6	A	T	18: 24,589,823	D473E	probably benign	Het
Spocd1	A	G	4: 129,949,092	D68G	probably damaging	Het
Syt13	T	C	2: 92,940,804	F79L	probably benign	Het
Tas2r103	A	T	6: 133,036,512	M197K	probably benign	Het
Tbrg4	A	G	11: 6,618,492	V429A	probably damaging	Het
Tuft1	A	C	3: 94,615,768		probably null	Het
Uqcrc1	A	G	9: 108,947,869	T80A	probably damaging	Het
Vps18	A	G	2: 119,293,810	N406S	probably benign	Het
Xrn2	T	A	2: 147,026,590	W188R	probably damaging	Het
Zzef1	T	G	11: 72,916,509	S2738A	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
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
R0257:Nek5	UTSW	8	22123672	intron	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
X0012:Nek5	UTSW	8	22095248	missense	possibly damaging	0.92

Posted On

2015-04-16