Mutagenetix > Incidental Mutation

Incidental Mutation 'R4709:Nek5'

355488

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

042018-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R4709 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22563632-22615069 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22573443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 504 (N504K)

Ref Sequence

ENSEMBL: ENSMUSP00000148211 (fasta)

Gene Model

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

AlphaFold

Q7TSC3

Predicted Effect

probably damaging
Transcript: ENSMUST00000169834
AA Change: N504K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126705
Gene: ENSMUSG00000037738
AA Change: N504K

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 damaging
Transcript: ENSMUST00000209656
AA Change: N504K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000210824

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

97% (77/79)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	G	A	17: 36,271,069 (GRCm39)	T463M	probably damaging	Het
Arhgap35	C	T	7: 16,297,511 (GRCm39)	G518D	probably damaging	Het
Arhgdia	A	G	11: 120,470,517 (GRCm39)	Y110H	probably damaging	Het
Atp8b3	T	C	10: 80,372,604 (GRCm39)		probably null	Het
Bpifb6	T	A	2: 153,750,436 (GRCm39)	I309N	possibly damaging	Het
Cbr4	T	C	8: 61,943,061 (GRCm39)	V77A	possibly damaging	Het
Cers2	A	G	3: 95,227,534 (GRCm39)	Y54C	possibly damaging	Het
Cnbp	A	T	6: 87,821,120 (GRCm39)	H145Q	probably damaging	Het
Csmd1	A	T	8: 16,073,905 (GRCm39)	I2030N	possibly damaging	Het
Csmd1	A	G	8: 16,760,522 (GRCm39)		probably null	Het
Dhodh	T	C	8: 110,328,170 (GRCm39)		probably null	Het
Dnah11	T	A	12: 117,982,495 (GRCm39)	Y2558F	probably benign	Het
Dysf	C	A	6: 84,074,697 (GRCm39)	D499E	probably damaging	Het
En1	A	T	1: 120,534,872 (GRCm39)	Y387F	unknown	Het
Ephb2	C	A	4: 136,423,363 (GRCm39)	C305F	probably damaging	Het
Fryl	A	G	5: 73,238,315 (GRCm39)	V1477A	probably benign	Het
Gimap3	A	T	6: 48,742,327 (GRCm39)	L201Q	probably benign	Het
Gm10801	T	G	2: 98,494,246 (GRCm39)		probably null	Het
Grhl1	A	G	12: 24,636,132 (GRCm39)	I283V	possibly damaging	Het
Grid2ip	T	A	5: 143,374,658 (GRCm39)	L926H	probably damaging	Het
Gtf2h2	G	T	13: 100,605,523 (GRCm39)	C82*	probably null	Het
Gtf2ird1	T	C	5: 134,433,588 (GRCm39)	T280A	probably benign	Het
Gzmd	T	C	14: 56,367,698 (GRCm39)	I192V	probably null	Het
Hectd1	A	G	12: 51,834,695 (GRCm39)	V855A	possibly damaging	Het
Hey1	A	G	3: 8,730,963 (GRCm39)		probably benign	Het
Hpx	A	G	7: 105,249,243 (GRCm39)	S19P	probably benign	Het
Incenp	G	A	19: 9,853,964 (GRCm39)	R696W	unknown	Het
Itgam	T	C	7: 127,700,709 (GRCm39)	V493A	probably damaging	Het
Ldlrad3	A	G	2: 101,900,343 (GRCm39)	I53T	probably damaging	Het
Map3k7	G	T	4: 31,985,700 (GRCm39)	E208*	probably null	Het
Myh9	A	T	15: 77,671,717 (GRCm39)	I458N	probably damaging	Het
Myo1c	C	T	11: 75,560,856 (GRCm39)	R770*	probably null	Het
Nectin3	T	A	16: 46,284,306 (GRCm39)	Y126F	possibly damaging	Het
Nlrp4c	T	A	7: 6,068,424 (GRCm39)	H108Q	probably benign	Het
Or10d5	A	T	9: 39,861,165 (GRCm39)	L301M	probably damaging	Het
Or2ak4	T	C	11: 58,649,013 (GRCm39)	V174A	possibly damaging	Het
Or2at1	A	T	7: 99,416,989 (GRCm39)	I207F	probably damaging	Het
Or5h17	A	T	16: 58,820,458 (GRCm39)	T137S	probably benign	Het
Or9a2	G	T	6: 41,748,442 (GRCm39)	Q264K	probably benign	Het
Or9i14	T	A	19: 13,792,814 (GRCm39)	I47F	possibly damaging	Het
Parp6	T	C	9: 59,549,052 (GRCm39)	I507T	probably damaging	Het
Pcdhb12	A	G	18: 37,570,548 (GRCm39)	T565A	probably benign	Het
Pclo	A	G	5: 14,828,572 (GRCm39)	N4676D	unknown	Het
Pdlim1	T	A	19: 40,211,180 (GRCm39)	H278L	probably benign	Het
Pfkfb3	G	A	2: 11,498,719 (GRCm39)	T46M	probably damaging	Het
Plscr2	A	G	9: 92,173,067 (GRCm39)	Y203C	probably damaging	Het
Plxna1	T	C	6: 89,311,733 (GRCm39)	D924G	possibly damaging	Het
Postn	T	A	3: 54,292,031 (GRCm39)		probably benign	Het
Ptpn23	A	G	9: 110,217,924 (GRCm39)	S674P	possibly damaging	Het
Ranbp6	C	T	19: 29,788,984 (GRCm39)	R456Q	probably benign	Het
Rbm43	A	T	2: 51,819,728 (GRCm39)	V46E	probably damaging	Het
Rlig1	T	C	10: 100,414,243 (GRCm39)	I139V	probably benign	Het
Rtn4r	A	G	16: 17,969,046 (GRCm39)	Y158C	probably damaging	Het
Ryr2	A	G	13: 11,731,884 (GRCm39)	I2352T	probably damaging	Het
Sbk2	G	T	7: 4,960,577 (GRCm39)	R198S	possibly damaging	Het
Scube3	G	A	17: 28,386,166 (GRCm39)		probably null	Het
Slc45a1	G	A	4: 150,722,697 (GRCm39)	P396S	probably benign	Het
Slc4a10	A	G	2: 62,087,861 (GRCm39)	D418G	probably null	Het
Smarcad1	A	G	6: 65,052,099 (GRCm39)	T411A	probably benign	Het
Smtn	G	A	11: 3,474,663 (GRCm39)	S716F	probably damaging	Het
Stag1	G	T	9: 100,620,092 (GRCm39)	R65L	probably damaging	Het
Stat1	A	T	1: 52,165,680 (GRCm39)	D92V	probably damaging	Het
Ttn	A	G	2: 76,582,428 (GRCm39)	Y22822H	probably damaging	Het
Vmn1r172	A	G	7: 23,359,606 (GRCm39)	T164A	probably benign	Het
Vmn2r118	A	T	17: 55,917,860 (GRCm39)	D217E	probably damaging	Het
Vmn2r26	A	G	6: 124,030,924 (GRCm39)	E553G	probably damaging	Het
Vmn2r96	T	C	17: 18,803,088 (GRCm39)	F333L	probably benign	Het
Ypel5	G	A	17: 73,155,726 (GRCm39)	R98H	probably benign	Het
Zfp719	C	T	7: 43,239,656 (GRCm39)	H415Y	probably damaging	Het
Zyg11a	T	C	4: 108,062,268 (GRCm39)	S176G	probably benign	Het

Other mutations in Nek5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:Nek5	APN	8	22,601,199 (GRCm39)	missense	possibly damaging	0.75
IGL01418:Nek5	APN	8	22,585,285 (GRCm39)	missense	probably damaging	1.00
IGL01485:Nek5	APN	8	22,573,385 (GRCm39)	missense	probably benign	0.05
IGL01640:Nek5	APN	8	22,610,856 (GRCm39)	missense	probably benign	0.00
IGL01894:Nek5	APN	8	22,603,835 (GRCm39)	missense	probably damaging	1.00
IGL01958:Nek5	APN	8	22,586,842 (GRCm39)	missense	probably benign	0.09
IGL02332:Nek5	APN	8	22,585,277 (GRCm39)	missense	probably benign	0.14
IGL02718:Nek5	APN	8	22,587,479 (GRCm39)	missense	probably benign	0.15
IGL03203:Nek5	APN	8	22,608,784 (GRCm39)	missense	probably damaging	1.00
IGL03325:Nek5	APN	8	22,569,158 (GRCm39)	missense	probably benign
R0257:Nek5	UTSW	8	22,613,688 (GRCm39)	intron	probably benign
R0522:Nek5	UTSW	8	22,578,813 (GRCm39)	splice site	probably benign
R0525:Nek5	UTSW	8	22,569,093 (GRCm39)	unclassified	probably benign
R1476:Nek5	UTSW	8	22,586,747 (GRCm39)	missense	possibly damaging	0.86
R1483:Nek5	UTSW	8	22,586,806 (GRCm39)	missense	probably benign	0.30
R1764:Nek5	UTSW	8	22,599,928 (GRCm39)	missense	probably damaging	0.98
R1892:Nek5	UTSW	8	22,597,745 (GRCm39)	missense	probably benign	0.11
R1989:Nek5	UTSW	8	22,601,185 (GRCm39)	missense	probably damaging	1.00
R2229:Nek5	UTSW	8	22,603,648 (GRCm39)	missense	possibly damaging	0.76
R4114:Nek5	UTSW	8	22,601,178 (GRCm39)	missense	probably damaging	1.00
R4116:Nek5	UTSW	8	22,601,178 (GRCm39)	missense	probably damaging	1.00
R4952:Nek5	UTSW	8	22,569,104 (GRCm39)	missense	probably benign	0.00
R4952:Nek5	UTSW	8	22,586,815 (GRCm39)	missense	probably benign	0.00
R5185:Nek5	UTSW	8	22,573,397 (GRCm39)	missense	possibly damaging	0.78
R5816:Nek5	UTSW	8	22,586,752 (GRCm39)	missense	probably benign	0.02
R5884:Nek5	UTSW	8	22,578,817 (GRCm39)	critical splice donor site	probably null
R6009:Nek5	UTSW	8	22,610,838 (GRCm39)	missense	probably benign	0.00
R6279:Nek5	UTSW	8	22,597,737 (GRCm39)	missense	probably benign
R6300:Nek5	UTSW	8	22,597,737 (GRCm39)	missense	probably benign
R6437:Nek5	UTSW	8	22,575,476 (GRCm39)	missense	possibly damaging	0.95
R7034:Nek5	UTSW	8	22,597,739 (GRCm39)	missense	probably benign	0.00
R7036:Nek5	UTSW	8	22,597,739 (GRCm39)	missense	probably benign	0.00
R7278:Nek5	UTSW	8	22,580,500 (GRCm39)	missense	probably benign	0.13
R7436:Nek5	UTSW	8	22,598,056 (GRCm39)	missense	probably damaging	1.00
R7666:Nek5	UTSW	8	22,580,533 (GRCm39)	missense	probably benign	0.12
R7827:Nek5	UTSW	8	22,573,403 (GRCm39)	missense	possibly damaging	0.91
R8057:Nek5	UTSW	8	22,578,922 (GRCm39)	missense	probably benign	0.21
R8350:Nek5	UTSW	8	22,603,688 (GRCm39)	missense	probably damaging	0.98
R8847:Nek5	UTSW	8	22,613,595 (GRCm39)	missense	probably benign	0.01
R8888:Nek5	UTSW	8	22,580,495 (GRCm39)	critical splice donor site	probably null
R8933:Nek5	UTSW	8	22,610,859 (GRCm39)	missense	probably damaging	1.00
R8933:Nek5	UTSW	8	22,601,226 (GRCm39)	missense	probably damaging	1.00
R9353:Nek5	UTSW	8	22,563,961 (GRCm39)	missense	probably benign	0.00
R9574:Nek5	UTSW	8	22,564,040 (GRCm39)	missense	probably benign	0.00
R9745:Nek5	UTSW	8	22,573,479 (GRCm39)	missense	probably benign	0.04
X0012:Nek5	UTSW	8	22,585,264 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- GCAAGGCATGTTCCCAGTTC -3'
(R):5'- AAGGGATGAGCACGCATCAC -3'

Sequencing Primer
(F):5'- GTTCTCTCTCCAACCCAAAGG -3'
(R):5'- GGATGAGCACGCATCACTCAAATG -3'

Posted On

2015-10-21