Mutagenetix > Incidental Mutation

Incidental Mutation 'R4724:Nek11'

354694

Institutional Source

Beutler Lab

Gene Symbol

Nek11

Ensembl Gene

ENSMUSG00000035032

Gene Name

NIMA (never in mitosis gene a)-related expressed kinase 11

Synonyms

4932416N14Rik

MMRRC Submission

041988-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4724 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105039355-105272723 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 105270169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 18 (I18F)

Ref Sequence

ENSEMBL: ENSMUSP00000135837 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035181] [ENSMUST00000038648] [ENSMUST00000123807] [ENSMUST00000140851] [ENSMUST00000156256] [ENSMUST00000176350] [ENSMUST00000177029] [ENSMUST00000189758] [ENSMUST00000176940] [ENSMUST00000177402]

AlphaFold

Q8C0Q4

Predicted Effect

probably benign
Transcript: ENSMUST00000035181

SMART Domains

Protein: ENSMUSP00000035181
Gene: ENSMUSG00000032567

Domain	Start	End	E-Value	Type
Pfam:XPG_I_2	115	307	1e-18	PFAM
low complexity region	476	488	N/A	INTRINSIC
low complexity region	621	634	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038648
AA Change: I18F

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000038611
Gene: ENSMUSG00000035032
AA Change: I18F

Domain	Start	End	E-Value	Type
S_TKc	30	288	3.87e-80	SMART
coiled coil region	348	384	N/A	INTRINSIC
low complexity region	408	423	N/A	INTRINSIC
low complexity region	450	466	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123807

Predicted Effect

probably benign
Transcript: ENSMUST00000123807

Predicted Effect

probably benign
Transcript: ENSMUST00000140851
AA Change: I18F

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116864
Gene: ENSMUSG00000035032
AA Change: I18F

Domain	Start	End	E-Value	Type
S_TKc	30	288	3.87e-80	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156256
AA Change: I18F

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000116761
Gene: ENSMUSG00000035032
AA Change: I18F

Domain	Start	End	E-Value	Type
Pfam:Pkinase	30	177	8.9e-36	PFAM
Pfam:Pkinase_Tyr	30	178	8.9e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176350

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177029
AA Change: I18F

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135837
Gene: ENSMUSG00000035032
AA Change: I18F

Domain	Start	End	E-Value	Type
SCOP:d1h8fa_	11	80	1e-6	SMART
Blast:S_TKc	30	70	1e-11	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176597

Predicted Effect

probably benign
Transcript: ENSMUST00000189758

SMART Domains

Protein: ENSMUSP00000139854
Gene: ENSMUSG00000032567

Domain	Start	End	E-Value	Type
low complexity region	59	71	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176940

Predicted Effect

probably benign
Transcript: ENSMUST00000177402

SMART Domains

Protein: ENSMUSP00000135318
Gene: ENSMUSG00000032567

Domain	Start	End	E-Value	Type
low complexity region	59	71	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the never in mitosis gene A family of kinases. The encoded protein localizes to the nucleoli, and may function with NEK2A in the S-phase checkpoint. The encoded protein appears to play roles in DNA replication and response to genotoxic stress. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	C	G	3: 89,960,848 (GRCm39)	Q34E	probably damaging	Het
4933434E20Rik	G	T	3: 89,960,890 (GRCm39)	V48F	probably damaging	Het
4933434E20Rik	A	T	3: 89,960,849 (GRCm39)	Q34L	probably damaging	Het
Abra	T	C	15: 41,729,302 (GRCm39)	D366G	probably damaging	Het
Acvr2a	T	C	2: 48,760,447 (GRCm39)	S68P	probably damaging	Het
Adam28	T	A	14: 68,864,326 (GRCm39)	R492S	probably damaging	Het
Adamts1	T	A	16: 85,599,393 (GRCm39)	E69V	probably benign	Het
Adgra1	A	T	7: 139,455,505 (GRCm39)	M378L	probably benign	Het
Adgra2	T	A	8: 27,588,850 (GRCm39)	N101K	possibly damaging	Het
Adhfe1	T	A	1: 9,646,475 (GRCm39)	F449L	probably damaging	Het
Akap6	T	A	12: 52,842,668 (GRCm39)	S5R	possibly damaging	Het
Akap9	G	A	5: 4,105,339 (GRCm39)	R2883Q	probably benign	Het
Ank3	T	A	10: 69,542,688 (GRCm39)	I16N	probably benign	Het
Api5	A	T	2: 94,253,816 (GRCm39)	F296I	possibly damaging	Het
Ceacam14	G	T	7: 17,547,975 (GRCm39)		probably null	Het
Cep295	C	T	9: 15,242,128 (GRCm39)	G1768S	probably damaging	Het
Cldn12	A	G	5: 5,558,385 (GRCm39)	F14S	probably damaging	Het
Cp	C	A	3: 20,026,811 (GRCm39)	T413K	probably benign	Het
Ctdsp2	T	G	10: 126,828,938 (GRCm39)	V104G	probably damaging	Het
Ctrc	T	A	4: 141,573,607 (GRCm39)		probably null	Het
Dbt	T	C	3: 116,326,945 (GRCm39)	I98T	probably damaging	Het
Dcaf10	G	A	4: 45,372,769 (GRCm39)	R394Q	possibly damaging	Het
Dctn1	T	A	6: 83,166,920 (GRCm39)	M257K	possibly damaging	Het
Depp1	T	A	6: 116,629,096 (GRCm39)	C146*	probably null	Het
Dlgap5	C	T	14: 47,638,977 (GRCm39)		probably null	Het
Drd3	G	T	16: 43,643,164 (GRCm39)	E467*	probably null	Het
Exoc8	A	G	8: 125,623,989 (GRCm39)	V126A	probably benign	Het
Fam185a	T	A	5: 21,660,785 (GRCm39)	S267T	probably damaging	Het
Fhod1	T	C	8: 106,064,493 (GRCm39)		probably benign	Het
Fn1	T	C	1: 71,687,307 (GRCm39)		probably null	Het
Gadl1	A	T	9: 115,783,685 (GRCm39)	T214S	possibly damaging	Het
Gem	G	T	4: 11,706,074 (GRCm39)	R54L	probably damaging	Het
Ghr	A	G	15: 3,355,422 (GRCm39)	V287A	probably benign	Het
Gm3642	G	A	14: 18,212,879 (GRCm39)	T215I	probably benign	Het
Grip1	T	A	10: 119,874,588 (GRCm39)	I732K	probably benign	Het
Gtpbp2	A	T	17: 46,478,147 (GRCm39)		probably null	Het
Heatr6	C	T	11: 83,670,374 (GRCm39)	R976*	probably null	Het
Hipk2	T	A	6: 38,675,327 (GRCm39)	T1084S	probably benign	Het
Hmcn1	T	C	1: 150,570,584 (GRCm39)		probably null	Het
Hspg2	T	A	4: 137,249,438 (GRCm39)	M1328K	probably damaging	Het
Ifna4	C	A	4: 88,760,519 (GRCm39)	T141K	probably benign	Het
Ighv1-64	A	G	12: 115,471,466 (GRCm39)	V17A	probably benign	Het
Iqgap2	G	T	13: 95,772,005 (GRCm39)	N1391K	possibly damaging	Het
Irf7	A	T	7: 140,844,648 (GRCm39)	L148Q	possibly damaging	Het
Kat6b	G	A	14: 21,711,030 (GRCm39)	R768K	probably benign	Het
Lepr	G	A	4: 101,622,562 (GRCm39)	W447*	probably null	Het
Letmd1	A	G	15: 100,367,619 (GRCm39)	Y59C	probably damaging	Het
Lingo4	A	T	3: 94,310,183 (GRCm39)	K374*	probably null	Het
Loxl4	G	T	19: 42,596,785 (GRCm39)	D62E	probably benign	Het
Lrfn2	A	G	17: 49,377,462 (GRCm39)	D181G	probably damaging	Het
Lrrc71	A	T	3: 87,646,481 (GRCm39)	F526L	probably damaging	Het
Ltbp1	A	T	17: 75,620,003 (GRCm39)	M711L	probably damaging	Het
Mcm7	A	T	5: 138,167,387 (GRCm39)	D78E	probably damaging	Het
Mdh1	T	C	11: 21,512,957 (GRCm39)	N136D	probably damaging	Het
Meltf	T	A	16: 31,711,323 (GRCm39)	N515K	probably benign	Het
Mis18bp1	T	A	12: 65,205,513 (GRCm39)	T220S	probably benign	Het
Mtss1	C	T	15: 58,953,367 (GRCm39)	V4M	probably damaging	Het
Nacc2	A	T	2: 25,980,185 (GRCm39)	F84I	probably damaging	Het
Nedd9	A	G	13: 41,470,073 (GRCm39)	V360A	possibly damaging	Het
Nkd2	C	T	13: 73,995,124 (GRCm39)	V13M	probably damaging	Het
Nkx6-3	A	G	8: 23,646,285 (GRCm39)	I152V	probably damaging	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Oprm1	A	T	10: 6,708,656 (GRCm39)	R16*	probably null	Het
Or1e16	A	T	11: 73,285,981 (GRCm39)	I289N	probably damaging	Het
Or51b4	A	G	7: 103,530,856 (GRCm39)	V198A	probably benign	Het
Or5an1	T	C	19: 12,260,460 (GRCm39)	L16P	probably damaging	Het
Or5p69	T	A	7: 107,967,205 (GRCm39)	F169L	probably benign	Het
Or6d15	T	C	6: 116,559,898 (GRCm39)	N3S	probably damaging	Het
Or7a36	A	G	10: 78,820,356 (GRCm39)	H244R	probably damaging	Het
Ostf1	G	A	19: 18,571,231 (GRCm39)	P62L	probably damaging	Het
Pcdha2	A	T	18: 37,073,568 (GRCm39)	T400S	possibly damaging	Het
Pcdha5	A	T	18: 37,094,549 (GRCm39)	T353S	possibly damaging	Het
Pelo	A	G	13: 115,225,271 (GRCm39)	F318S	probably damaging	Het
Polr2f	T	C	15: 79,030,269 (GRCm39)	V36A	probably benign	Het
Ppan	G	A	9: 20,799,806 (GRCm39)	R41H	probably benign	Het
Ppp1r21	C	T	17: 88,863,019 (GRCm39)	R253*	probably null	Het
Prf1	T	A	10: 61,139,487 (GRCm39)	W482R	probably damaging	Het
Ralgapa2	T	C	2: 146,187,453 (GRCm39)	T1397A	possibly damaging	Het
Rev3l	T	A	10: 39,722,802 (GRCm39)	Y2598*	probably null	Het
Scaf11	G	T	15: 96,312,729 (GRCm39)	D1437E	probably benign	Het
Sec23a	C	T	12: 59,025,292 (GRCm39)	G510R	probably damaging	Het
Sel1l2	A	G	2: 140,082,847 (GRCm39)	M597T	probably damaging	Het
Slc11a2	A	T	15: 100,304,219 (GRCm39)	S160T	possibly damaging	Het
Slc18a1	A	T	8: 69,526,301 (GRCm39)	L129*	probably null	Het
Smg8	A	C	11: 86,977,047 (GRCm39)	L178R	probably benign	Het
Sp4	T	C	12: 118,225,544 (GRCm39)	T607A	probably benign	Het
Ssbp2	A	G	13: 91,836,933 (GRCm39)	D266G	possibly damaging	Het
Sstr3	A	T	15: 78,423,897 (GRCm39)	Y283*	probably null	Het
Stk32b	C	T	5: 37,612,278 (GRCm39)		probably null	Het
Svep1	T	C	4: 58,070,752 (GRCm39)	T2345A	possibly damaging	Het
Synpo2	A	G	3: 122,907,940 (GRCm39)	S459P	probably damaging	Het
Sytl2	A	G	7: 89,998,000 (GRCm39)	M1V	probably null	Het
Tas2r102	T	A	6: 132,739,520 (GRCm39)	W143R	probably damaging	Het
Thy1	T	C	9: 43,958,645 (GRCm39)	V129A	probably damaging	Het
Tlr2	A	T	3: 83,745,492 (GRCm39)	I197N	probably damaging	Het
Tmem101	A	G	11: 102,044,269 (GRCm39)	I206T	probably benign	Het
Tmem108	A	G	9: 103,376,688 (GRCm39)	S254P	possibly damaging	Het
Tmem198b	T	C	10: 128,637,350 (GRCm39)	Q263R	probably damaging	Het
Vangl1	T	C	3: 102,091,870 (GRCm39)	D72G	probably damaging	Het
Vmn1r4	T	A	6: 56,934,349 (GRCm39)	D284E	probably benign	Het
Vmn2r31	G	A	7: 7,387,757 (GRCm39)	L605F	possibly damaging	Het
Zfand4	T	C	6: 116,250,780 (GRCm39)	V70A	probably damaging	Het
Zfp54	A	G	17: 21,653,665 (GRCm39)	E53G	probably damaging	Het
Zfp541	A	T	7: 15,815,612 (GRCm39)	I805F	probably damaging	Het
Zfp976	T	C	7: 42,262,457 (GRCm39)	H460R	possibly damaging	Het

Other mutations in Nek11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01348:Nek11	APN	9	105,270,112 (GRCm39)	missense	probably damaging	1.00
IGL01369:Nek11	APN	9	105,177,259 (GRCm39)	critical splice donor site	probably null
IGL01958:Nek11	APN	9	105,177,502 (GRCm39)	missense	probably benign	0.06
IGL03099:Nek11	APN	9	105,164,852 (GRCm39)	missense	probably benign	0.02
IGL03256:Nek11	APN	9	105,121,613 (GRCm39)	missense	probably damaging	1.00
IGL03400:Nek11	APN	9	105,082,065 (GRCm39)	missense	probably benign	0.01
R0051:Nek11	UTSW	9	105,095,738 (GRCm39)	splice site	probably benign
R0051:Nek11	UTSW	9	105,095,738 (GRCm39)	splice site	probably benign
R0194:Nek11	UTSW	9	105,270,151 (GRCm39)	missense	probably benign	0.05
R0942:Nek11	UTSW	9	105,172,570 (GRCm39)	splice site	probably null
R1226:Nek11	UTSW	9	105,270,091 (GRCm39)	missense	probably damaging	1.00
R1503:Nek11	UTSW	9	105,040,403 (GRCm39)	missense	probably damaging	1.00
R1709:Nek11	UTSW	9	105,225,260 (GRCm39)	missense	probably damaging	1.00
R1958:Nek11	UTSW	9	105,170,916 (GRCm39)	missense	probably benign	0.00
R2128:Nek11	UTSW	9	105,177,560 (GRCm39)	missense	probably benign	0.01
R3754:Nek11	UTSW	9	105,191,917 (GRCm39)	missense	probably damaging	1.00
R4027:Nek11	UTSW	9	105,121,589 (GRCm39)	nonsense	probably null
R4594:Nek11	UTSW	9	105,270,046 (GRCm39)	critical splice donor site	probably null
R4650:Nek11	UTSW	9	105,225,279 (GRCm39)	missense	possibly damaging	0.79
R4846:Nek11	UTSW	9	105,040,362 (GRCm39)	missense	probably damaging	1.00
R4903:Nek11	UTSW	9	105,191,921 (GRCm39)	missense	possibly damaging	0.63
R4908:Nek11	UTSW	9	105,175,488 (GRCm39)	missense	probably benign	0.00
R4912:Nek11	UTSW	9	105,164,857 (GRCm39)	missense	probably benign	0.01
R4930:Nek11	UTSW	9	105,177,265 (GRCm39)	missense	probably damaging	1.00
R5827:Nek11	UTSW	9	105,191,944 (GRCm39)	missense	probably damaging	1.00
R5860:Nek11	UTSW	9	105,270,160 (GRCm39)	missense	probably benign	0.01
R6030:Nek11	UTSW	9	105,082,087 (GRCm39)	critical splice acceptor site	probably null
R6030:Nek11	UTSW	9	105,082,087 (GRCm39)	critical splice acceptor site	probably null
R6154:Nek11	UTSW	9	105,200,368 (GRCm39)	makesense	probably null
R6915:Nek11	UTSW	9	105,270,256 (GRCm39)	unclassified	probably benign
R7197:Nek11	UTSW	9	105,121,614 (GRCm39)	missense	probably damaging	1.00
R8059:Nek11	UTSW	9	105,040,173 (GRCm39)	makesense	probably null
R8140:Nek11	UTSW	9	105,270,156 (GRCm39)	missense	probably damaging	0.99
R8357:Nek11	UTSW	9	105,225,191 (GRCm39)	missense	probably damaging	1.00
R8457:Nek11	UTSW	9	105,225,191 (GRCm39)	missense	probably damaging	1.00
R8536:Nek11	UTSW	9	105,175,538 (GRCm39)	missense	probably benign	0.04
R8752:Nek11	UTSW	9	105,225,207 (GRCm39)	missense	probably benign	0.00
R8885:Nek11	UTSW	9	105,172,571 (GRCm39)	critical splice donor site	probably null
R9098:Nek11	UTSW	9	105,170,856 (GRCm39)	missense	probably benign	0.32
R9616:Nek11	UTSW	9	105,082,011 (GRCm39)	missense	probably damaging	1.00
Z1176:Nek11	UTSW	9	105,170,868 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- TGTTCTAAAGCAGCCTGTGG -3'
(R):5'- ACTGCAGGTATCATTGCCAAAAG -3'

Sequencing Primer
(F):5'- TGTGGCTACGCACACATG -3'
(R):5'- GAATCTTGTAGTTGCTTTTAGACACG -3'

Posted On

2015-10-21