Mutagenetix > Incidental Mutation

Incidental Mutation 'R0007:Nek10'

64854

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

038302-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0007 (G1)

Quality Score

151

Status

Validated

Chromosome

Chromosomal Location

7457704-7666183 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14840574 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 153 (H153Q)

Ref Sequence

ENSEMBL: ENSMUSP00000153142 (fasta)

Gene Model

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

AlphaFold

Q3UGM2

Predicted Effect

probably benign
Transcript: ENSMUST00000112630
AA Change: H153Q

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000108249
Gene: ENSMUSG00000042567
AA Change: H153Q

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: H153Q

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000108250
Gene: ENSMUSG00000042567
AA Change: H153Q

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: ENSMUST00000224491
AA Change: H153Q

PolyPhen 2 Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)

Meta Mutation Damage Score

0.1556

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.5%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	A	T	17: 36,270,562 (GRCm39)	Y543N	probably damaging	Het
Adgrb3	C	A	1: 25,150,772 (GRCm39)		probably null	Het
AI504432	T	A	3: 106,956,152 (GRCm39)		noncoding transcript	Het
Cd82	T	C	2: 93,264,226 (GRCm39)	N39S	probably benign	Het
Cntnap2	A	C	6: 45,969,007 (GRCm39)	N250H	possibly damaging	Het
Col7a1	T	C	9: 108,790,471 (GRCm39)	V973A	unknown	Het
Cyp2c66	T	A	19: 39,159,402 (GRCm39)	C284*	probably null	Het
Denr	T	A	5: 124,062,877 (GRCm39)	Y127N	probably damaging	Het
Diaph3	C	A	14: 87,104,056 (GRCm39)	R776L	possibly damaging	Het
Gm5600	T	A	7: 113,307,010 (GRCm39)		noncoding transcript	Het
Hephl1	A	T	9: 14,997,471 (GRCm39)	D398E	possibly damaging	Het
Lama3	T	A	18: 12,630,938 (GRCm39)		probably benign	Het
Mtrr	A	T	13: 68,723,449 (GRCm39)	F154L	probably benign	Het
Myo1b	T	A	1: 51,815,413 (GRCm39)	R650S	probably damaging	Het
Nelfe	A	G	17: 35,072,962 (GRCm39)		probably benign	Het
Nlrp9a	T	C	7: 26,250,515 (GRCm39)		probably benign	Het
Nos1	T	C	5: 118,048,153 (GRCm39)	S653P	probably damaging	Het
Or5p76	A	G	7: 108,122,420 (GRCm39)	S246P	probably damaging	Het
Or8b101	A	T	9: 38,020,390 (GRCm39)	Y131F	possibly damaging	Het
Pcsk5	C	A	19: 17,632,225 (GRCm39)	G314C	probably damaging	Het
Ralgps1	A	G	2: 33,033,401 (GRCm39)	S393P	probably damaging	Het
Slc44a4	G	A	17: 35,140,230 (GRCm39)	A60T	probably damaging	Het
Slc4a4	G	A	5: 89,186,437 (GRCm39)	D173N	probably damaging	Het
Sparcl1	T	A	5: 104,234,946 (GRCm39)	Q523L	probably damaging	Het
Srgap3	A	G	6: 112,806,473 (GRCm39)	Y63H	probably damaging	Het
Trim16	A	G	11: 62,719,944 (GRCm39)	M84V	probably benign	Het
Trpm3	G	A	19: 22,964,893 (GRCm39)	A1453T	probably benign	Het
Ttn	C	T	2: 76,710,548 (GRCm39)		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
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
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'- GGCCTTAACAACTACCAGTTGCTGC -3'
(R):5'- GGCCACCACTATCAACCTTATCTGC -3'

Sequencing Primer
(F):5'- GTTGCAGTTCTGACCAATGG -3'
(R):5'- TTAGCATCACATCATGGGAGC -3'

Posted On

2013-08-06