Mutagenetix > Incidental Mutation

Incidental Mutation 'R1250:Nek10'

151732

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

039317-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1250 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7457704-7666183 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14853887 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 358 (S358P)

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: S358P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108249
Gene: ENSMUSG00000042567
AA Change: S358P

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: S358P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108250
Gene: ENSMUSG00000042567
AA Change: S358P

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: S358P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aptx	T	A	4: 40,693,447 (GRCm39)	E162D	probably benign	Het
Cdhr4	A	T	9: 107,874,715 (GRCm39)	Q20L	probably damaging	Het
Dlk1	A	T	12: 109,425,744 (GRCm39)	T206S	probably damaging	Het
Gabrr2	T	C	4: 33,063,273 (GRCm39)	L32P	probably benign	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Kntc1	T	A	5: 123,922,262 (GRCm39)	S954T	possibly damaging	Het
Krt28	A	G	11: 99,257,648 (GRCm39)		probably null	Het
Lingo3	T	C	10: 80,670,605 (GRCm39)	T442A	probably benign	Het
Map3k5	G	A	10: 19,986,521 (GRCm39)	A912T	possibly damaging	Het
Msantd3	C	A	4: 48,552,789 (GRCm39)	P126Q	probably damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Prss59	A	T	6: 40,902,909 (GRCm39)		probably null	Het
Qtrt1	C	T	9: 21,330,844 (GRCm39)	T324M	probably benign	Het
Rag2	A	G	2: 101,460,784 (GRCm39)	S365G	probably damaging	Het
Slc6a2	C	A	8: 93,719,491 (GRCm39)	T402K	probably benign	Het
Slc9b1	T	C	3: 135,054,531 (GRCm39)	M1T	probably null	Het
Ttn	A	G	2: 76,720,904 (GRCm39)		probably benign	Het
Vmn1r31	A	G	6: 58,449,643 (GRCm39)	V74A	probably benign	Het
Zkscan3	A	G	13: 21,572,694 (GRCm39)	F313L	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
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
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'- CCCCATGATTCAGAGGAGGCAAAG -3'
(R):5'- ACTGAAGAAGGCTCTGGCATTCAC -3'

Sequencing Primer
(F):5'- TTCAGAGGAGGCAAAGTGTTC -3'
(R):5'- CACATTGGGAATCCTGAAAACTG -3'

Posted On

2014-01-29