Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03229:Nek10'

413820

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nek10

Ensembl Gene

ENSMUSG00000042567

Gene Name

NIMA (never in mitosis gene a)- related kinase 10

Synonyms

LOC238944

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03229

Quality Score

Status

Chromosome

Chromosomal Location

7457704-7666183 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14986686 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 997 (H997R)

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: H997R

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

SMART Domains

Protein: ENSMUSP00000108249
Gene: ENSMUSG00000042567
AA Change: H997R

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: H1008R

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

SMART Domains

Protein: ENSMUSP00000108250
Gene: ENSMUSG00000042567
AA Change: H1008R

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: ENSMUST00000136826

SMART Domains

Protein: ENSMUSP00000123151
Gene: ENSMUSG00000042567

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

probably benign
Transcript: ENSMUST00000224491
AA Change: H997R

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,990,936 (GRCm39)	I832T	probably damaging	Het
Adcyap1r1	T	C	6: 55,455,108 (GRCm39)	S124P	probably damaging	Het
Ccn3	A	G	15: 54,612,704 (GRCm39)	T238A	probably benign	Het
Coq4	A	G	2: 29,678,497 (GRCm39)	D41G	probably benign	Het
Cpb1	A	T	3: 20,304,001 (GRCm39)	Y354*	probably null	Het
Dip2b	T	C	15: 100,105,719 (GRCm39)		probably benign	Het
Dmxl2	C	T	9: 54,311,456 (GRCm39)	R1755H	probably damaging	Het
Dyrk4	G	T	6: 126,863,605 (GRCm39)		probably benign	Het
E2f7	T	C	10: 110,590,207 (GRCm39)	V120A	probably benign	Het
Fsip2	A	T	2: 82,808,420 (GRCm39)	I1580F	possibly damaging	Het
Gm9755	C	A	8: 67,967,324 (GRCm39)		noncoding transcript	Het
Gprc6a	T	G	10: 51,492,699 (GRCm39)	N480T	probably damaging	Het
H2ac20	C	T	3: 96,127,953 (GRCm39)	A70T	probably damaging	Het
H2-T9	C	T	17: 36,438,614 (GRCm39)	G259E	probably damaging	Het
Hdlbp	T	C	1: 93,357,909 (GRCm39)	I331V	probably benign	Het
Heatr6	G	T	11: 83,672,271 (GRCm39)	G1093V	probably benign	Het
Kri1	T	C	9: 21,193,366 (GRCm39)	E162G	probably damaging	Het
Nckipsd	T	C	9: 108,688,813 (GRCm39)	V116A	probably benign	Het
Nxph1	A	G	6: 9,247,830 (GRCm39)	Y267C	probably damaging	Het
Or14a256	T	C	7: 86,265,286 (GRCm39)	D189G	probably benign	Het
Or8k40	A	T	2: 86,584,360 (GRCm39)	C241S	probably damaging	Het
Ppip5k2	A	T	1: 97,656,686 (GRCm39)	V829E	probably damaging	Het
Prkcz	A	C	4: 155,346,963 (GRCm39)	S573A	probably benign	Het
Prl2c1	T	A	13: 28,040,612 (GRCm39)		probably benign	Het
Rgs22	T	A	15: 36,015,925 (GRCm39)		probably benign	Het
Scn1a	T	A	2: 66,130,057 (GRCm39)	I1253F	probably damaging	Het
Tarm1	A	G	7: 3,545,413 (GRCm39)	C146R	probably damaging	Het
Tor2a	A	T	2: 32,649,704 (GRCm39)	I189F	probably damaging	Het
Trappc9	A	T	15: 72,930,305 (GRCm39)	L17Q	probably damaging	Het
Trim45	T	A	3: 100,830,385 (GRCm39)	L53Q	probably damaging	Het
Ubr7	T	C	12: 102,735,414 (GRCm39)	L291P	probably damaging	Het
Unc79	T	C	12: 103,100,798 (GRCm39)	V1878A	probably damaging	Het
Wdr90	T	C	17: 26,064,437 (GRCm39)		probably benign	Het
Xpnpep1	T	C	19: 53,013,811 (GRCm39)	H42R	probably benign	Het
Zfp750	G	A	11: 121,403,778 (GRCm39)	H366Y	possibly damaging	Het
Zmynd11	A	G	13: 9,739,601 (GRCm39)	C462R	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
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
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

Posted On

2016-08-02