Mutagenetix > Incidental Mutation

Incidental Mutation 'R5939:Nek10'

462444

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

043243-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5939 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7457704-7666183 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14931290 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 754 (Y754F)

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: Y754F

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108249
Gene: ENSMUSG00000042567
AA Change: Y754F

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: Y754F

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108250
Gene: ENSMUSG00000042567
AA Change: Y754F

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

unknown
Transcript: ENSMUST00000136826
AA Change: Y57F

SMART Domains

Protein: ENSMUSP00000123151
Gene: ENSMUSG00000042567
AA Change: Y57F

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	87	5.1e-13	PFAM
Pfam:Pkinase_Tyr	1	87	4.2e-8	PFAM
low complexity region	103	115	N/A	INTRINSIC
low complexity region	143	167	N/A	INTRINSIC
low complexity region	212	230	N/A	INTRINSIC
low complexity region	257	268	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224491
AA Change: Y754F

PolyPhen 2 Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	T	8: 25,404,138 (GRCm39)	F225I	probably damaging	Het
Ager	G	T	17: 34,817,175 (GRCm39)	C38F	probably damaging	Het
Arel1	C	A	12: 84,973,066 (GRCm39)	R577L	probably damaging	Het
Armh1	T	C	4: 117,087,119 (GRCm39)	Y182C	probably damaging	Het
Cabp2	G	T	19: 4,136,470 (GRCm39)	C172F	possibly damaging	Het
Cenps	C	A	4: 149,214,658 (GRCm39)		probably benign	Het
D630045J12Rik	A	C	6: 38,171,904 (GRCm39)	S755A	possibly damaging	Het
Duox1	A	T	2: 122,176,832 (GRCm39)	H1451L	probably damaging	Het
Dync2h1	A	G	9: 7,037,801 (GRCm39)	V3359A	probably damaging	Het
Erlin2	T	C	8: 27,526,554 (GRCm39)	F305L	probably benign	Het
Gm10428	A	C	11: 62,644,288 (GRCm39)		probably benign	Het
Gnal	G	A	18: 67,324,456 (GRCm39)	V204M	probably damaging	Het
Intu	T	C	3: 40,647,014 (GRCm39)	V629A	probably damaging	Het
Lrguk	G	T	6: 34,055,688 (GRCm39)	C435F	probably damaging	Het
Man1c1	C	T	4: 134,293,147 (GRCm39)	V543M	probably damaging	Het
Mcm3ap	A	G	10: 76,344,195 (GRCm39)	H1779R	probably benign	Het
Neb	T	C	2: 52,147,606 (GRCm39)	T2776A	probably benign	Het
Nr3c1	A	G	18: 39,553,706 (GRCm39)	I664T	probably benign	Het
Nrip1	T	C	16: 76,089,010 (GRCm39)	E849G	probably damaging	Het
Nrros	A	G	16: 31,962,272 (GRCm39)	F546L	probably benign	Het
Or12e8	A	C	2: 87,188,048 (GRCm39)	I87L	possibly damaging	Het
Or5d39	T	C	2: 87,979,853 (GRCm39)	Y170C	probably damaging	Het
Pcdhb16	A	G	18: 37,611,117 (GRCm39)	T26A	probably benign	Het
Penk	A	G	4: 4,138,010 (GRCm39)	F45S	probably benign	Het
Pgap4	T	A	4: 49,586,412 (GRCm39)	Q252L	probably damaging	Het
Ppp2r3d	A	T	9: 101,089,824 (GRCm39)	N166K	probably benign	Het
Psmb1	A	G	17: 15,718,440 (GRCm39)	F29L	probably damaging	Het
Rab23	T	C	1: 33,762,990 (GRCm39)	V20A	probably damaging	Het
Ryr1	C	T	7: 28,815,552 (GRCm39)	A113T	probably damaging	Het
Ryr2	C	T	13: 11,805,218 (GRCm39)	R882K	probably damaging	Het
Slc6a6	A	G	6: 91,731,929 (GRCm39)	N586S	probably benign	Het
Slc9c1	A	G	16: 45,368,031 (GRCm39)	I207V	probably benign	Het
Spef2	G	A	15: 9,614,301 (GRCm39)	T1215I	probably benign	Het
Thoc2l	T	C	5: 104,667,073 (GRCm39)	Y532H	possibly damaging	Het
Tmc7	C	T	7: 118,144,950 (GRCm39)	A537T	probably benign	Het
Tmem70	T	C	1: 16,747,615 (GRCm39)	V243A	probably benign	Het
Top2b	T	C	14: 16,422,786 (GRCm38)	Y1408H	probably damaging	Het
Tpcn1	A	T	5: 120,677,892 (GRCm39)	F642I	probably damaging	Het
Xirp1	T	G	9: 119,847,575 (GRCm39)	D436A	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
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
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'- GAACTGGCTAACTTGCACTG -3'
(R):5'- CCAGTGGTTTTCAAGGAGACAC -3'

Sequencing Primer
(F):5'- GAACTGGCTAACTTGCACTGATTTTC -3'
(R):5'- GTGGTTTTCAAGGAGACACTATTAC -3'

Posted On

2017-02-28