Mutagenetix > Incidental Mutation

Incidental Mutation 'R4952:Nek10'

382092

Institutional Source

Beutler Lab

Gene Symbol

Nek10

Ensembl Gene

ENSMUSG00000042567

Gene Name

NIMA (never in mitosis gene a)- related kinase 10

Synonyms

LOC238944

MMRRC Submission

042549-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4952 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14803415-15012059 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14860986 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 513 (L513M)

Ref Sequence

ENSEMBL: ENSMUSP00000153142 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112630] [ENSMUST00000112631] [ENSMUST00000224491]

AlphaFold

Q3UGM2

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000063220

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112630
AA Change: L513M

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108249
Gene: ENSMUSG00000042567
AA Change: L513M

Domain	Start	End	E-Value	Type
ARM	197	238	8.23e1	SMART
ARM	278	320	5.18e0	SMART
low complexity region	387	400	N/A	INTRINSIC
ARM	401	448	7.09e1	SMART
S_TKc	519	791	2.36e-75	SMART
low complexity region	799	811	N/A	INTRINSIC
low complexity region	839	863	N/A	INTRINSIC
low complexity region	908	926	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112631
AA Change: L513M

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000108250
Gene: ENSMUSG00000042567
AA Change: L513M

Domain	Start	End	E-Value	Type
ARM	197	238	8.23e1	SMART
ARM	278	320	5.18e0	SMART
low complexity region	387	400	N/A	INTRINSIC
ARM	401	448	7.09e1	SMART
S_TKc	519	791	2.36e-75	SMART
low complexity region	799	811	N/A	INTRINSIC
low complexity region	839	863	N/A	INTRINSIC
low complexity region	908	926	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134866

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224491
AA Change: L513M

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.0762

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.0%

Validation Efficiency

99% (93/94)

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,739,197		probably null	Het
4933421I07Rik	T	C	7: 42,447,659	Y76C	possibly damaging	Het
Adcy4	C	T	14: 55,779,029	D322N	probably damaging	Het
Ak9	A	G	10: 41,420,589	M1444V	probably benign	Het
Amfr	A	G	8: 93,973,159		probably benign	Het
Ankef1	A	G	2: 136,550,529	E546G	probably damaging	Het
Ankrd24	A	G	10: 81,647,148	M977V	probably benign	Het
Ap3m1	A	T	14: 21,040,066	S5T	probably benign	Het
Aqr	C	A	2: 114,109,937	D1243Y	probably damaging	Het
Arhgef2	T	C	3: 88,642,462	L591P	probably damaging	Het
Arid4a	C	A	12: 71,023,525	T70K	possibly damaging	Het
Asphd1	C	T	7: 126,948,685	A149T	probably benign	Het
Avpr1a	T	A	10: 122,449,754	M317K	probably damaging	Het
Birc2	T	C	9: 7,836,740	I109V	probably damaging	Het
Catsperd	A	G	17: 56,632,303	Y44C	probably damaging	Het
Ccdc114	A	C	7: 45,942,191	E293A	probably damaging	Het
Crygb	T	G	1: 65,082,109	S20R	probably benign	Het
Cyp3a25	T	C	5: 145,991,524	N237S	probably benign	Het
Dkk3	C	T	7: 112,118,351	A304T	probably benign	Het
Dst	T	C	1: 34,271,422	L4101S	probably damaging	Het
Dysf	A	G	6: 84,149,986	N1407S	possibly damaging	Het
Epb41	A	G	4: 132,000,270	V265A	probably damaging	Het
Faim2	C	T	15: 99,521,228	E75K	possibly damaging	Het
Fbn1	T	A	2: 125,317,534	D2208V	probably damaging	Het
Fbxo28	A	G	1: 182,326,385	S129P	probably damaging	Het
Fbxw14	T	A	9: 109,276,201	I299L	probably benign	Het
Fras1	C	T	5: 96,647,498	A1050V	probably benign	Het
Fyb	C	A	15: 6,638,811	T495K	probably damaging	Het
Ghdc	A	T	11: 100,769,151	W257R	probably damaging	Het
Gm10719	T	C	9: 3,018,962	L69S	probably benign	Het
Gm11492	A	G	11: 87,567,772	N324S	probably benign	Het
Gm12250	G	T	11: 58,188,384		noncoding transcript	Het
Gm4846	A	T	1: 166,483,934	F452Y	probably damaging	Het
Gm8773	T	A	5: 5,575,387	F28I	probably benign	Het
Gm884	T	C	11: 103,614,207	T2312A	possibly damaging	Het
Gpbp1	T	C	13: 111,440,750	D202G	probably damaging	Het
Gpd2	C	A	2: 57,307,013	Y193*	probably null	Het
Grhl2	G	T	15: 37,287,249	R229L	probably benign	Het
Gtf2a1	A	G	12: 91,575,749	F59L	possibly damaging	Het
Heatr1	G	T	13: 12,410,599	W640L	probably benign	Het
Kalrn	A	T	16: 34,357,415		probably null	Het
Keap1	T	C	9: 21,237,286	T142A	probably damaging	Het
Kpna2	G	A	11: 106,991,235	T255M	probably damaging	Het
Kpna3	A	G	14: 61,370,389	C456R	probably damaging	Het
Lama1	G	A	17: 67,767,566		probably null	Het
Mag	C	A	7: 30,909,156	E178*	probably null	Het
Map3k13	A	G	16: 21,911,019	I467V	probably benign	Het
Mga	A	G	2: 119,903,301	E210G	probably damaging	Het
Msi2	C	T	11: 88,366,784		probably null	Het
Naa16	A	T	14: 79,345,085	D521E	probably damaging	Het
Nav2	C	T	7: 49,304,540		probably benign	Het
Nek5	T	C	8: 22,096,799	K332R	probably benign	Het
Nek5	T	A	8: 22,079,088	I573L	probably benign	Het
Ntn1	CCTTCTTCT	CCTTCT	11: 68,213,026		probably benign	Het
Olfr111	A	T	17: 37,530,750	T258S	possibly damaging	Het
Olfr263	G	A	13: 21,133,344	V190I	probably benign	Het
Olfr773	T	A	10: 129,186,597	T275S	probably benign	Het
Olfr875	T	A	9: 37,773,064	M135K	probably damaging	Het
Orai1	T	G	5: 123,029,250	V162G	probably damaging	Het
P2rx6	T	C	16: 17,567,444	S134P	probably damaging	Het
Pappa2	G	A	1: 158,857,136	T811I	probably null	Het
Pcdhga10	T	C	18: 37,747,160		probably benign	Het
Pex16	C	T	2: 92,379,060	R241*	probably null	Het
Plxnb1	T	C	9: 109,114,836	F1969L	probably damaging	Het
Postn	A	G	3: 54,390,315		probably benign	Het
Prdm15	A	T	16: 97,806,077	I752N	probably damaging	Het
Rasgef1c	A	T	11: 49,979,512	K468M	probably damaging	Het
Rbfox1	A	G	16: 7,277,088	S111G	probably benign	Het
Rbm28	T	C	6: 29,138,598	D405G	probably damaging	Het
Rell1	A	G	5: 63,939,667		probably benign	Het
Rfx3	A	G	19: 27,830,672	S224P	probably damaging	Het
Scarb2	A	T	5: 92,454,777	I260K	probably damaging	Het
Slc15a4	A	G	5: 127,603,837	F72L	probably damaging	Het
Spg7	C	A	8: 123,090,171	R534S	probably damaging	Het
Stoml2	T	C	4: 43,029,589	T164A	probably benign	Het
Syt11	C	T	3: 88,762,283	G101S	possibly damaging	Het
Traj12	A	G	14: 54,206,556		probably benign	Het
Traj7	A	T	14: 54,211,524		probably benign	Het
Tysnd1	C	T	10: 61,702,076	T175I	possibly damaging	Het
Usp48	T	G	4: 137,606,693	Y139*	probably null	Het
Vmn2r72	A	G	7: 85,751,109	L244P	probably benign	Het
Wasf1	C	A	10: 40,936,190	P325Q	unknown	Het
Zc3h18	T	A	8: 122,410,900		probably benign	Het
Zfp712	A	G	13: 67,040,841	S541P	possibly damaging	Het

Other mutations in Nek10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01361:Nek10	APN	14	14850957	missense	probably damaging	0.99
IGL02067:Nek10	APN	14	14861639	missense	probably benign	0.12
IGL02361:Nek10	APN	14	14843856	missense	probably damaging	1.00
IGL02687:Nek10	APN	14	14840570	missense	probably damaging	1.00
IGL02929:Nek10	APN	14	14821119	missense	possibly damaging	0.82
IGL03229:Nek10	APN	14	14986686	missense	probably benign	0.10
P0041:Nek10	UTSW	14	14861603	missense	probably benign	0.01
R0007:Nek10	UTSW	14	14840574	missense	probably benign	0.10
R0007:Nek10	UTSW	14	14840574	missense	probably benign	0.10
R0142:Nek10	UTSW	14	14861560	missense	possibly damaging	0.96
R0433:Nek10	UTSW	14	14860927	missense	probably benign	0.32
R0633:Nek10	UTSW	14	14857782	critical splice acceptor site	probably null
R1087:Nek10	UTSW	14	14827059	missense	possibly damaging	0.59
R1184:Nek10	UTSW	14	14931325	splice site	probably benign
R1250:Nek10	UTSW	14	14853887	missense	probably damaging	1.00
R1371:Nek10	UTSW	14	14850983	missense	probably damaging	0.98
R1506:Nek10	UTSW	14	14999078	splice site	probably benign
R1829:Nek10	UTSW	14	14863454	critical splice acceptor site	probably null
R1831:Nek10	UTSW	14	14842789	missense	probably benign
R1833:Nek10	UTSW	14	14842789	missense	probably benign
R1990:Nek10	UTSW	14	14860764	missense	probably benign
R1997:Nek10	UTSW	14	14827003	missense	probably benign	0.09
R2011:Nek10	UTSW	14	14885122	missense	probably damaging	1.00
R2158:Nek10	UTSW	14	14885047	splice site	probably null
R2288:Nek10	UTSW	14	14853956	nonsense	probably null
R2568:Nek10	UTSW	14	14999112	missense	possibly damaging	0.89
R2907:Nek10	UTSW	14	14980613	missense	possibly damaging	0.81
R2965:Nek10	UTSW	14	14836202	missense	probably damaging	1.00
R3922:Nek10	UTSW	14	14861585	missense	possibly damaging	0.88
R4032:Nek10	UTSW	14	14853877	splice site	probably null
R4700:Nek10	UTSW	14	14842841	missense	possibly damaging	0.69
R4742:Nek10	UTSW	14	14861624	missense	probably null	0.03
R4785:Nek10	UTSW	14	14855714	missense	probably benign
R4890:Nek10	UTSW	14	14860986	missense	possibly damaging	0.47
R4891:Nek10	UTSW	14	14860986	missense	possibly damaging	0.47
R4920:Nek10	UTSW	14	14860986	missense	possibly damaging	0.47
R4924:Nek10	UTSW	14	14846594	splice site	probably null
R4928:Nek10	UTSW	14	14930577	missense	probably damaging	1.00
R4948:Nek10	UTSW	14	14860986	missense	possibly damaging	0.47
R4953:Nek10	UTSW	14	14860986	missense	possibly damaging	0.47
R5092:Nek10	UTSW	14	14820851	missense	possibly damaging	0.81
R5097:Nek10	UTSW	14	14857851	missense	probably benign	0.00
R5593:Nek10	UTSW	14	14980544	nonsense	probably null
R5696:Nek10	UTSW	14	14860736	splice site	probably null
R5813:Nek10	UTSW	14	14986704	missense	probably benign	0.01
R5829:Nek10	UTSW	14	14865404	missense	probably damaging	1.00
R5872:Nek10	UTSW	14	14850896	missense	probably benign	0.06
R5939:Nek10	UTSW	14	14931290	missense	possibly damaging	0.58
R6025:Nek10	UTSW	14	14865633	missense	probably benign	0.41
R6235:Nek10	UTSW	14	14821113	nonsense	probably null
R6539:Nek10	UTSW	14	14860789	missense	possibly damaging	0.94
R6542:Nek10	UTSW	14	14999108	missense	probably benign	0.44
R6561:Nek10	UTSW	14	14828448	missense	possibly damaging	0.48
R6659:Nek10	UTSW	14	14861684	missense	probably benign	0.29
R7039:Nek10	UTSW	14	14826946	missense	possibly damaging	0.63
R7039:Nek10	UTSW	14	14986700	missense	probably damaging	0.99
R7102:Nek10	UTSW	14	14828517	missense	probably damaging	1.00
R7185:Nek10	UTSW	14	14846621	missense	probably benign	0.03
R7198:Nek10	UTSW	14	14850947	missense	probably damaging	0.99
R7202:Nek10	UTSW	14	14836171	missense	probably benign	0.01
R7251:Nek10	UTSW	14	14853965	missense	probably benign
R7345:Nek10	UTSW	14	14955503	missense	probably benign
R7590:Nek10	UTSW	14	15006693	makesense	probably null
R7593:Nek10	UTSW	14	14826955	missense	probably benign	0.04
R7616:Nek10	UTSW	14	14937759	missense	probably benign	0.27
R7635:Nek10	UTSW	14	14850932	missense	probably benign	0.01
R7817:Nek10	UTSW	14	15001017	missense	probably benign	0.00
R7826:Nek10	UTSW	14	14860846	splice site	probably null
R7986:Nek10	UTSW	14	15001020	missense	probably benign	0.17
R8765:Nek10	UTSW	14	14999104	missense	probably damaging	0.97
R8856:Nek10	UTSW	14	14937610	missense	probably damaging	0.96
R8973:Nek10	UTSW	14	14931321	critical splice donor site	probably null
R9002:Nek10	UTSW	14	14980590	missense	probably damaging	1.00
R9088:Nek10	UTSW	14	14931314	missense	probably damaging	1.00
R9195:Nek10	UTSW	14	14821139	missense	probably benign	0.03
R9464:Nek10	UTSW	14	14937766	missense	probably benign
R9511:Nek10	UTSW	14	14828511	missense	probably benign	0.05
R9529:Nek10	UTSW	14	14850833	missense	probably benign
R9590:Nek10	UTSW	14	14853888	missense	probably damaging	1.00
Z1177:Nek10	UTSW	14	14853948	missense	probably benign	0.00
Z1177:Nek10	UTSW	14	15001157	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCTTATAAGGACTTGGTATCACAGTTG -3'
(R):5'- TGAGAGCCAAGGCAACACTC -3'

Sequencing Primer
(F):5'- GGACTTGGTATCACAGTTGAATTTAC -3'
(R):5'- CATAATTACCACCCAGTGTTGG -3'

Posted On

2016-04-27