Mutagenetix > Incidental Mutation

Incidental Mutation 'R6561:Nek10'

523145

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

044685-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6561 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7457704-7666183 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14828448 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 90 (N90I)

Ref Sequence

ENSEMBL: ENSMUSP00000153142 (fasta)

Gene Model

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

AlphaFold

Q3UGM2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112630
AA Change: N90I

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108249
Gene: ENSMUSG00000042567
AA Change: N90I

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: N90I

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000108250
Gene: ENSMUSG00000042567
AA Change: N90I

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

possibly damaging
Transcript: ENSMUST00000224491
AA Change: N90I

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.1186

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.9%

Validation Efficiency

97% (30/31)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,977,825 (GRCm39)	I468F	probably benign	Het
Ahsa2	T	A	11: 23,441,036 (GRCm39)	I202F	possibly damaging	Het
Akr1b1	C	T	6: 34,286,939 (GRCm39)	V206M	possibly damaging	Het
Anapc1	A	G	2: 128,505,919 (GRCm39)	V639A	probably damaging	Het
Cdh12	A	G	15: 21,492,680 (GRCm39)	Y233C	probably damaging	Het
Dchs2	G	T	3: 83,036,476 (GRCm39)	V408F	probably benign	Het
Dnmt3c	T	A	2: 153,561,950 (GRCm39)	L551Q	probably damaging	Het
Dock2	A	G	11: 34,578,365 (GRCm39)	F746S	probably damaging	Het
Fastkd3	C	T	13: 68,732,149 (GRCm39)	R157C	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ier3ip1	T	A	18: 77,027,344 (GRCm39)	S58T	probably damaging	Het
Itpr2	A	G	6: 146,135,504 (GRCm39)	V1809A	probably damaging	Het
Kif22	T	A	7: 126,630,225 (GRCm39)	N437I	probably benign	Het
Klri1	A	G	6: 129,693,964 (GRCm39)	V41A	probably benign	Het
Lrrc14	T	A	15: 76,597,646 (GRCm39)	D125E	possibly damaging	Het
Nostrin	G	A	2: 69,011,201 (GRCm39)	A331T	probably benign	Het
Or4k2	T	C	14: 50,423,775 (GRCm39)	K300E	probably damaging	Het
Or5b109	A	G	19: 13,212,394 (GRCm39)	Y260C	probably damaging	Het
Or8b12i	T	C	9: 20,082,073 (GRCm39)	T265A	probably benign	Het
Plxna1	A	G	6: 89,333,960 (GRCm39)	V223A	probably damaging	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Homo
Skic3	T	A	13: 76,298,638 (GRCm39)	S1115T	probably damaging	Het
Smg1	A	T	7: 117,765,300 (GRCm39)		probably benign	Het
Sorbs1	A	G	19: 40,314,496 (GRCm39)	I772T	probably benign	Het
Sptbn2	A	G	19: 4,797,954 (GRCm39)	N1927S	probably benign	Het
Tab1	T	C	15: 80,033,031 (GRCm39)	V105A	probably benign	Het
Trbv15	A	T	6: 41,118,414 (GRCm39)	T57S	probably benign	Het
Vmn1r78	A	T	7: 11,886,826 (GRCm39)	I146F	probably damaging	Het
Vmn2r39	T	A	7: 9,018,092 (GRCm39)	Y748F	probably damaging	Het
Zfp493	T	A	13: 67,934,338 (GRCm39)	V65D	possibly damaging	Het

Other mutations in Nek10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01361:Nek10	APN	14	14,850,957 (GRCm38)	missense	probably damaging	0.99
IGL02067:Nek10	APN	14	14,861,639 (GRCm38)	missense	probably benign	0.12
IGL02361:Nek10	APN	14	14,843,856 (GRCm38)	missense	probably damaging	1.00
IGL02687:Nek10	APN	14	14,840,570 (GRCm38)	missense	probably damaging	1.00
IGL02929:Nek10	APN	14	14,821,119 (GRCm38)	missense	possibly damaging	0.82
IGL03229:Nek10	APN	14	14,986,686 (GRCm38)	missense	probably benign	0.10
P0041:Nek10	UTSW	14	14,861,603 (GRCm38)	missense	probably benign	0.01
R0007:Nek10	UTSW	14	14,840,574 (GRCm38)	missense	probably benign	0.10
R0007:Nek10	UTSW	14	14,840,574 (GRCm38)	missense	probably benign	0.10
R0142:Nek10	UTSW	14	14,861,560 (GRCm38)	missense	possibly damaging	0.96
R0433:Nek10	UTSW	14	14,860,927 (GRCm38)	missense	probably benign	0.32
R0633:Nek10	UTSW	14	14,857,782 (GRCm38)	critical splice acceptor site	probably null
R1087:Nek10	UTSW	14	14,827,059 (GRCm38)	missense	possibly damaging	0.59
R1184:Nek10	UTSW	14	14,931,325 (GRCm38)	splice site	probably benign
R1250:Nek10	UTSW	14	14,853,887 (GRCm38)	missense	probably damaging	1.00
R1371:Nek10	UTSW	14	14,850,983 (GRCm38)	missense	probably damaging	0.98
R1506:Nek10	UTSW	14	14,999,078 (GRCm38)	splice site	probably benign
R1829:Nek10	UTSW	14	14,863,454 (GRCm38)	critical splice acceptor site	probably null
R1831:Nek10	UTSW	14	14,842,789 (GRCm38)	missense	probably benign
R1833:Nek10	UTSW	14	14,842,789 (GRCm38)	missense	probably benign
R1990:Nek10	UTSW	14	14,860,764 (GRCm38)	missense	probably benign
R1997:Nek10	UTSW	14	14,827,003 (GRCm38)	missense	probably benign	0.09
R2011:Nek10	UTSW	14	14,885,122 (GRCm38)	missense	probably damaging	1.00
R2158:Nek10	UTSW	14	14,885,047 (GRCm38)	splice site	probably null
R2288:Nek10	UTSW	14	14,853,956 (GRCm38)	nonsense	probably null
R2568:Nek10	UTSW	14	14,999,112 (GRCm38)	missense	possibly damaging	0.89
R2907:Nek10	UTSW	14	14,980,613 (GRCm38)	missense	possibly damaging	0.81
R2965:Nek10	UTSW	14	14,836,202 (GRCm38)	missense	probably damaging	1.00
R3922:Nek10	UTSW	14	14,861,585 (GRCm38)	missense	possibly damaging	0.88
R4032:Nek10	UTSW	14	14,853,877 (GRCm38)	splice site	probably null
R4700:Nek10	UTSW	14	14,842,841 (GRCm38)	missense	possibly damaging	0.69
R4742:Nek10	UTSW	14	14,861,624 (GRCm38)	missense	probably null	0.03
R4785:Nek10	UTSW	14	14,855,714 (GRCm38)	missense	probably benign
R4890:Nek10	UTSW	14	14,860,986 (GRCm38)	missense	possibly damaging	0.47
R4891:Nek10	UTSW	14	14,860,986 (GRCm38)	missense	possibly damaging	0.47
R4920:Nek10	UTSW	14	14,860,986 (GRCm38)	missense	possibly damaging	0.47
R4924:Nek10	UTSW	14	14,846,594 (GRCm38)	splice site	probably null
R4928:Nek10	UTSW	14	14,930,577 (GRCm38)	missense	probably damaging	1.00
R4948:Nek10	UTSW	14	14,860,986 (GRCm38)	missense	possibly damaging	0.47
R4952:Nek10	UTSW	14	14,860,986 (GRCm38)	missense	possibly damaging	0.47
R4953:Nek10	UTSW	14	14,860,986 (GRCm38)	missense	possibly damaging	0.47
R5092:Nek10	UTSW	14	14,820,851 (GRCm38)	missense	possibly damaging	0.81
R5097:Nek10	UTSW	14	14,857,851 (GRCm38)	missense	probably benign	0.00
R5593:Nek10	UTSW	14	14,980,544 (GRCm38)	nonsense	probably null
R5696:Nek10	UTSW	14	14,860,736 (GRCm38)	splice site	probably null
R5813:Nek10	UTSW	14	14,986,704 (GRCm38)	missense	probably benign	0.01
R5829:Nek10	UTSW	14	14,865,404 (GRCm38)	missense	probably damaging	1.00
R5872:Nek10	UTSW	14	14,850,896 (GRCm38)	missense	probably benign	0.06
R5939:Nek10	UTSW	14	14,931,290 (GRCm38)	missense	possibly damaging	0.58
R6025:Nek10	UTSW	14	14,865,633 (GRCm38)	missense	probably benign	0.41
R6235:Nek10	UTSW	14	14,821,113 (GRCm38)	nonsense	probably null
R6539:Nek10	UTSW	14	14,860,789 (GRCm38)	missense	possibly damaging	0.94
R6542:Nek10	UTSW	14	14,999,108 (GRCm38)	missense	probably benign	0.44
R6659:Nek10	UTSW	14	14,861,684 (GRCm38)	missense	probably benign	0.29
R7039:Nek10	UTSW	14	14,986,700 (GRCm38)	missense	probably damaging	0.99
R7039:Nek10	UTSW	14	14,826,946 (GRCm38)	missense	possibly damaging	0.63
R7102:Nek10	UTSW	14	14,828,517 (GRCm38)	missense	probably damaging	1.00
R7185:Nek10	UTSW	14	14,846,621 (GRCm38)	missense	probably benign	0.03
R7198:Nek10	UTSW	14	14,850,947 (GRCm38)	missense	probably damaging	0.99
R7202:Nek10	UTSW	14	14,836,171 (GRCm38)	missense	probably benign	0.01
R7251:Nek10	UTSW	14	14,853,965 (GRCm38)	missense	probably benign
R7345:Nek10	UTSW	14	14,955,503 (GRCm38)	missense	probably benign
R7590:Nek10	UTSW	14	15,006,693 (GRCm38)	makesense	probably null
R7593:Nek10	UTSW	14	14,826,955 (GRCm38)	missense	probably benign	0.04
R7616:Nek10	UTSW	14	14,937,759 (GRCm38)	missense	probably benign	0.27
R7635:Nek10	UTSW	14	14,850,932 (GRCm38)	missense	probably benign	0.01
R7817:Nek10	UTSW	14	15,001,017 (GRCm38)	missense	probably benign	0.00
R7826:Nek10	UTSW	14	14,860,846 (GRCm38)	splice site	probably null
R7986:Nek10	UTSW	14	15,001,020 (GRCm38)	missense	probably benign	0.17
R8765:Nek10	UTSW	14	14,999,104 (GRCm38)	missense	probably damaging	0.97
R8856:Nek10	UTSW	14	14,937,610 (GRCm38)	missense	probably damaging	0.96
R8973:Nek10	UTSW	14	14,931,321 (GRCm38)	critical splice donor site	probably null
R9002:Nek10	UTSW	14	14,980,590 (GRCm38)	missense	probably damaging	1.00
R9088:Nek10	UTSW	14	14,931,314 (GRCm38)	missense	probably damaging	1.00
R9195:Nek10	UTSW	14	14,821,139 (GRCm38)	missense	probably benign	0.03
R9464:Nek10	UTSW	14	14,937,766 (GRCm38)	missense	probably benign
R9511:Nek10	UTSW	14	14,828,511 (GRCm38)	missense	probably benign	0.05
R9529:Nek10	UTSW	14	14,850,833 (GRCm38)	missense	probably benign
R9590:Nek10	UTSW	14	14,853,888 (GRCm38)	missense	probably damaging	1.00
Z1177:Nek10	UTSW	14	15,001,157 (GRCm38)	nonsense	probably null
Z1177:Nek10	UTSW	14	14,853,948 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTTCAGCTCTTGATGGGAC -3'
(R):5'- CTGTGATCTACTTGTAGGCTGC -3'

Sequencing Primer
(F):5'- TCAACTTTATTGCTGAGTTTGAGTC -3'
(R):5'- CTACTTGTAGGCTGCTTCAAAG -3'

Posted On

2018-06-06