Mutagenetix > Incidental Mutation

Incidental Mutation 'R4920:Nek10'

378527

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

042522-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4920 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7457704-7666183 bp(-) (GRCm39)

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: 98.9%
3x: 98.0%
10x: 95.1%
20x: 87.9%

Validation Efficiency

96% (55/57)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700092K14Rik	A	T	11: 114,089,871 (GRCm39)		noncoding transcript	Het
Adcy4	C	T	14: 56,016,486 (GRCm39)	D322N	probably damaging	Het
Apbb1ip	A	G	2: 22,709,696 (GRCm39)	D51G	unknown	Het
Bmal1	A	G	7: 112,884,321 (GRCm39)	T120A	probably damaging	Het
Brca1	A	T	11: 101,415,785 (GRCm39)	V783D	probably damaging	Het
Ccdc141	T	C	2: 76,998,907 (GRCm39)	D58G	probably damaging	Het
Ccr9	G	T	9: 123,608,504 (GRCm39)	G62V	probably damaging	Het
Ces2b	T	C	8: 105,563,538 (GRCm39)	Y422H	probably benign	Het
Cpa4	T	C	6: 30,568,462 (GRCm39)		probably null	Het
Dennd3	A	G	15: 73,412,574 (GRCm39)	H412R	probably benign	Het
Dpy19l3	A	T	7: 35,407,467 (GRCm39)		probably benign	Het
Dtwd2	G	T	18: 49,831,507 (GRCm39)	R167S	possibly damaging	Het
Dync1i2	G	A	2: 71,077,668 (GRCm39)	R243Q	probably damaging	Het
Ear2	G	A	14: 44,340,582 (GRCm39)	G80E	probably damaging	Het
Fam171b	A	G	2: 83,710,703 (GRCm39)	K792E	possibly damaging	Het
Fam83b	G	A	9: 76,399,150 (GRCm39)	T651I	probably benign	Het
Fcrl5	T	G	3: 87,351,480 (GRCm39)	F243V	probably damaging	Het
Galntl6	T	C	8: 58,880,807 (GRCm39)	I115M	probably damaging	Het
Glrx3	A	G	7: 137,065,859 (GRCm39)	D163G	probably null	Het
Gm14488	A	T	2: 30,605,044 (GRCm39)		noncoding transcript	Het
Gm973	T	C	1: 59,666,725 (GRCm39)	S683P	probably benign	Het
Grhl3	T	A	4: 135,286,415 (GRCm39)	K89*	probably null	Het
Gsdmd	T	C	15: 75,736,206 (GRCm39)	S112P	probably damaging	Het
Ighv14-3	A	G	12: 114,023,877 (GRCm39)	V6A	probably benign	Het
Lca5l	T	A	16: 95,980,035 (GRCm39)	S32C	probably damaging	Het
Lrba	T	A	3: 86,571,765 (GRCm39)	Y260*	probably null	Het
Lyst	T	C	13: 13,821,645 (GRCm39)	S1340P	possibly damaging	Het
Mfsd13a	T	G	19: 46,355,655 (GRCm39)	F59V	probably damaging	Het
Noa1	T	C	5: 77,454,334 (GRCm39)		probably null	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Pgm1	C	T	4: 99,843,930 (GRCm39)	T571M	probably damaging	Het
Pramel23	T	C	4: 143,425,853 (GRCm39)	D30G	probably benign	Het
Rfc1	C	A	5: 65,445,271 (GRCm39)	V460F	probably damaging	Het
Rrn3	A	G	16: 13,608,503 (GRCm39)	D182G	probably benign	Het
Sap25	T	A	5: 137,640,507 (GRCm39)		probably benign	Het
Slc9a2	A	G	1: 40,794,878 (GRCm39)	I480V	probably benign	Het
Smo	T	C	6: 29,759,593 (GRCm39)	S642P	probably damaging	Het
Tbc1d22a	A	C	15: 86,195,949 (GRCm39)	I307L	probably benign	Het
Tent2	G	A	13: 93,322,833 (GRCm39)	Q39*	probably null	Het
Ubr3	A	G	2: 69,783,212 (GRCm39)	Q716R	probably benign	Het
Vmn2r96	A	G	17: 18,802,918 (GRCm39)	E276G	probably benign	Het
Zfp189	G	A	4: 49,529,302 (GRCm39)	C135Y	probably 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
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
R6561:Nek10	UTSW	14	14,828,448 (GRCm38)	missense	possibly damaging	0.48
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'- TCGTGATATTGGTGCTTATAAGGAC -3'
(R):5'- TGAGAGCCAAGGCAACACTC -3'

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

Posted On

2016-04-15