Mutagenetix > Incidental Mutation

Incidental Mutation 'R1371:Nek10'

157337

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

039435-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1371 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7457704-7666183 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 14850983 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 343 (G343R)

Ref Sequence

ENSEMBL: ENSMUSP00000153142 (fasta)

Gene Model

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

AlphaFold

Q3UGM2

Predicted Effect

probably damaging
Transcript: ENSMUST00000112630
AA Change: G343R

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108249
Gene: ENSMUSG00000042567
AA Change: G343R

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 damaging
Transcript: ENSMUST00000112631
AA Change: G343R

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108250
Gene: ENSMUSG00000042567
AA Change: G343R

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 damaging
Transcript: ENSMUST00000224491
AA Change: G343R

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

Meta Mutation Damage Score

0.2295

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.7%
20x: 89.0%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,844,379 (GRCm39)	D884V	probably damaging	Het
Acvr2a	C	T	2: 48,789,628 (GRCm39)	T457M	probably damaging	Het
Akr1b10	C	T	6: 34,369,394 (GRCm39)	T208I	probably benign	Het
Aldh16a1	G	T	7: 44,796,674 (GRCm39)	T275K	possibly damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Asgr1	T	G	11: 69,946,923 (GRCm39)	C56W	probably benign	Het
Atp11b	T	C	3: 35,860,918 (GRCm39)	I335T	probably damaging	Het
BC061237	A	G	14: 44,741,762 (GRCm39)		probably benign	Het
Bdh1	G	T	16: 31,275,720 (GRCm39)	K280N	probably benign	Het
Bmp1	C	T	14: 70,729,906 (GRCm39)	C466Y	probably damaging	Het
Ccdc181	A	G	1: 164,108,172 (GRCm39)	E285G	probably benign	Het
Ces1f	C	T	8: 94,006,277 (GRCm39)	G18R	probably damaging	Het
Cfap43	T	A	19: 47,824,045 (GRCm39)	I109L	possibly damaging	Het
Cma2	T	C	14: 56,210,283 (GRCm39)	L56S	probably damaging	Het
Edc4	A	G	8: 106,617,382 (GRCm39)		probably benign	Het
F3	T	C	3: 121,526,159 (GRCm39)	C241R	probably damaging	Het
Fhdc1	T	A	3: 84,352,310 (GRCm39)	S972C	probably damaging	Het
Heatr1	T	G	13: 12,432,513 (GRCm39)	I1086R	possibly damaging	Het
Hsh2d	A	T	8: 72,950,738 (GRCm39)		probably benign	Het
Ice1	T	C	13: 70,744,340 (GRCm39)	Y2081C	probably damaging	Het
Il1rl1	A	G	1: 40,481,873 (GRCm39)	N194D	probably damaging	Het
Ip6k1	G	A	9: 107,923,022 (GRCm39)	V385M	probably damaging	Het
Lig1	G	A	7: 13,022,611 (GRCm39)	R147Q	probably damaging	Het
Lrp1b	C	T	2: 40,537,165 (GRCm39)	V41I	probably damaging	Het
Macroh2a2	A	T	10: 61,585,112 (GRCm39)	D177E	possibly damaging	Het
Mst1r	T	A	9: 107,794,424 (GRCm39)	V1201E	probably damaging	Het
Myof	T	C	19: 37,892,116 (GRCm39)		probably benign	Het
Nbas	G	T	12: 13,532,379 (GRCm39)		probably benign	Het
Ndst1	A	G	18: 60,840,719 (GRCm39)	I321T	possibly damaging	Het
Or2a7	A	T	6: 43,151,234 (GRCm39)	T105S	probably benign	Het
Or2y1	T	A	11: 49,385,650 (GRCm39)	C97S	probably damaging	Het
Or4d2b	A	T	11: 87,780,122 (GRCm39)	I200N	probably damaging	Het
Pde4d	T	C	13: 109,253,595 (GRCm39)	S141P	probably benign	Het
Pigm	A	T	1: 172,204,381 (GRCm39)	Q39L	probably damaging	Het
Prl7a2	T	A	13: 27,846,750 (GRCm39)	I88F	probably benign	Het
Prss16	T	A	13: 22,192,856 (GRCm39)		probably benign	Het
Psmc4	G	A	7: 27,742,222 (GRCm39)		probably benign	Het
Ptger3	T	A	3: 157,273,365 (GRCm39)	C237*	probably null	Het
Recql	G	A	6: 142,318,601 (GRCm39)	T214M	probably damaging	Het
Rfx7	T	A	9: 72,526,857 (GRCm39)	V1349D	probably damaging	Het
Ros1	A	G	10: 51,964,041 (GRCm39)	S1740P	probably damaging	Het
Rrm2b	A	T	15: 37,947,053 (GRCm39)	S83T	probably benign	Het
Sall4	A	G	2: 168,598,394 (GRCm39)	Y149H	probably benign	Het
Smad1	A	G	8: 80,076,207 (GRCm39)		probably benign	Het
Snrnp70	T	C	7: 45,030,129 (GRCm39)		probably benign	Het
Spef2	C	A	15: 9,725,194 (GRCm39)		probably benign	Het
Sptlc1	T	C	13: 53,505,660 (GRCm39)	T253A	probably benign	Het
Zbbx	T	C	3: 74,959,784 (GRCm39)	Y595C	possibly damaging	Het
Zfp382	T	C	7: 29,833,114 (GRCm39)	V255A	probably benign	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
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
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'- CCCCAGATCAAGGAGCAGGTGAAA -3'
(R):5'- ATGTTCCCAAACATGGTAGCAATTTGTG -3'

Sequencing Primer
(F):5'- TCAAGGAGCAGGTGAAACTCTATG -3'
(R):5'- gtgtttctcttttcctgctacc -3'

Posted On

2014-02-18