Mutagenetix > Incidental Mutations

Incidental Mutation 'R4594:Nek11'

344265

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

041810-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4594 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105162156-105395524 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 105392847 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116864 (fasta)

Gene Model

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

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

probably null
Transcript: ENSMUST00000038648

SMART Domains

Protein: ENSMUSP00000038611
Gene: ENSMUSG00000035032

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 null
Transcript: ENSMUST00000140851

SMART Domains

Protein: ENSMUSP00000116864
Gene: ENSMUSG00000035032

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

Predicted Effect

probably null
Transcript: ENSMUST00000140851

SMART Domains

Protein: ENSMUSP00000116864
Gene: ENSMUSG00000035032

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

Predicted Effect

probably benign
Transcript: ENSMUST00000156256

SMART Domains

Protein: ENSMUSP00000116761
Gene: ENSMUSG00000035032

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

noncoding transcript
Transcript: ENSMUST00000176597

Predicted Effect

probably benign
Transcript: ENSMUST00000176940

Predicted Effect

probably benign
Transcript: ENSMUST00000177029

SMART Domains

Protein: ENSMUSP00000135837
Gene: ENSMUSG00000035032

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

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

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

Meta Mutation Damage Score

0.9490

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (66/66)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,575,754	T64A	probably damaging	Het
4933427I04Rik	A	T	4: 123,860,538	T82S	possibly damaging	Het
Adamts15	A	T	9: 30,921,447	I264N	probably damaging	Het
Alpk1	G	A	3: 127,683,554	A285V	probably damaging	Het
Auh	T	C	13: 52,912,966		probably benign	Het
BC030499	T	A	11: 78,291,647	V94D	possibly damaging	Het
Cacna2d3	A	G	14: 28,982,346	F826S	probably benign	Het
Ccdc54	G	T	16: 50,590,017	Y295*	probably null	Het
Ctnna3	G	A	10: 64,586,079	V551I	probably benign	Het
Diaph3	C	T	14: 86,986,037	C347Y	probably damaging	Het
Dnajb5	A	G	4: 42,950,842		probably benign	Het
Dscam	A	T	16: 96,717,996	I847K	possibly damaging	Het
Fam8a1	T	C	13: 46,671,266	F243S	probably damaging	Het
Fat2	T	C	11: 55,284,752	I1712V	possibly damaging	Het
Fgfr1	T	C	8: 25,573,836	V793A	probably damaging	Het
Got2	T	C	8: 95,872,186	E196G	probably benign	Het
Gsk3b	G	A	16: 38,170,701	C107Y	possibly damaging	Het
H2-M5	T	C	17: 36,987,805	T250A	possibly damaging	Het
Il17f	T	A	1: 20,777,802	T151S	probably damaging	Het
Ints12	A	G	3: 133,108,868	N279D	probably benign	Het
Kcnd3	C	T	3: 105,658,766	A421V	probably damaging	Het
Kynu	T	A	2: 43,679,890	S395T	probably benign	Het
Llgl1	C	T	11: 60,706,321	T226I	probably benign	Het
Mael	T	A	1: 166,235,487	Q132L	probably damaging	Het
Mcpt1	A	T	14: 56,018,652	R49S	probably benign	Het
Meioc	G	T	11: 102,674,166	G203C	probably damaging	Het
Mfsd4b1	A	G	10: 40,007,317	S46P	probably benign	Het
Muc6	G	T	7: 141,638,772	T1996N	possibly damaging	Het
Mx2	C	A	16: 97,547,432	Y268*	probably null	Het
Myom1	A	G	17: 71,100,074	D1064G	possibly damaging	Het
Nfe2	A	G	15: 103,248,805	L253S	probably damaging	Het
Nup205	T	C	6: 35,196,489	I478T	probably benign	Het
Nxpe2	T	C	9: 48,319,482	D529G	probably damaging	Het
Oard1	T	C	17: 48,415,239	S88P	possibly damaging	Het
Olfr1370	C	T	13: 21,072,522	V260I	probably benign	Het
Olfr231	G	T	1: 174,117,320	T232N	probably damaging	Het
Olfr639	T	C	7: 104,012,417	D95G	probably benign	Het
Olfr678	T	C	7: 105,069,590	V41A	probably benign	Het
Olfr732	G	A	14: 50,281,683	T190I	probably benign	Het
Olfr741	A	G	14: 50,486,162	R235G	probably benign	Het
Olfr906	A	C	9: 38,488,761	H244P	probably damaging	Het
Osgin1	C	T	8: 119,445,253	T262I	possibly damaging	Het
Plcb4	A	T	2: 136,002,599	M146L	probably damaging	Het
Prkdc	A	T	16: 15,767,966	E2456V	possibly damaging	Het
Ptk2	G	A	15: 73,206,196	A1004V	probably damaging	Het
Rab15	G	A	12: 76,800,671		probably benign	Het
Rad51ap2	T	C	12: 11,457,880	V601A	probably benign	Het
Rasef	T	A	4: 73,780,389	I12F	possibly damaging	Het
Rdh14	T	A	12: 10,394,567	N139K	probably damaging	Het
Rexo2	A	T	9: 48,480,417	V46E	probably damaging	Het
Slmap	A	T	14: 26,465,617	L68H	probably damaging	Het
Speer3	C	G	5: 13,796,380	A238G	possibly damaging	Het
Tmem132e	T	C	11: 82,435,068	I206T	possibly damaging	Het
Trappc8	A	T	18: 20,836,948	V995E	probably benign	Het
Vmn2r12	A	C	5: 109,086,435	I637S	probably damaging	Het
Vmn2r124	T	C	17: 18,073,969	F773L	probably damaging	Het
Vmn2r99	A	T	17: 19,393,662	D548V	probably damaging	Het
Wdr81	T	C	11: 75,445,794	N1590D	probably benign	Het
Zbtb6	A	T	2: 37,429,042	N291K	possibly damaging	Het
Zfp119a	G	A	17: 55,866,325	R173C	probably benign	Het
Zmynd15	T	C	11: 70,464,182	L335P	probably damaging	Het

Other mutations in Nek11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01348:Nek11	APN	9	105392913	missense	probably damaging	1.00
IGL01369:Nek11	APN	9	105300060	critical splice donor site	probably null
IGL01958:Nek11	APN	9	105300303	missense	probably benign	0.06
IGL03099:Nek11	APN	9	105287653	missense	probably benign	0.02
IGL03256:Nek11	APN	9	105244414	missense	probably damaging	1.00
IGL03400:Nek11	APN	9	105204866	missense	probably benign	0.01
R0051:Nek11	UTSW	9	105218539	splice site	probably benign
R0051:Nek11	UTSW	9	105218539	splice site	probably benign
R0194:Nek11	UTSW	9	105392952	missense	probably benign	0.05
R0942:Nek11	UTSW	9	105295371	splice site	probably null
R1226:Nek11	UTSW	9	105392892	missense	probably damaging	1.00
R1503:Nek11	UTSW	9	105163204	missense	probably damaging	1.00
R1709:Nek11	UTSW	9	105348061	missense	probably damaging	1.00
R1958:Nek11	UTSW	9	105293717	missense	probably benign	0.00
R2128:Nek11	UTSW	9	105300361	missense	probably benign	0.01
R3754:Nek11	UTSW	9	105314718	missense	probably damaging	1.00
R4027:Nek11	UTSW	9	105244390	nonsense	probably null
R4650:Nek11	UTSW	9	105348080	missense	possibly damaging	0.79
R4724:Nek11	UTSW	9	105392970	missense	possibly damaging	0.89
R4846:Nek11	UTSW	9	105163163	missense	probably damaging	1.00
R4903:Nek11	UTSW	9	105314722	missense	possibly damaging	0.63
R4908:Nek11	UTSW	9	105298289	missense	probably benign	0.00
R4912:Nek11	UTSW	9	105287658	missense	probably benign	0.01
R4930:Nek11	UTSW	9	105300066	missense	probably damaging	1.00
R5827:Nek11	UTSW	9	105314745	missense	probably damaging	1.00
R5860:Nek11	UTSW	9	105392961	missense	probably benign	0.01
R6030:Nek11	UTSW	9	105204888	critical splice acceptor site	probably null
R6030:Nek11	UTSW	9	105204888	critical splice acceptor site	probably null
R6154:Nek11	UTSW	9	105323169	makesense	probably null
R6915:Nek11	UTSW	9	105393057	unclassified	probably benign
R7197:Nek11	UTSW	9	105244415	missense	probably damaging	1.00
R8059:Nek11	UTSW	9	105162974	makesense	probably null
R8140:Nek11	UTSW	9	105392957	missense	probably damaging	0.99
R8357:Nek11	UTSW	9	105347992	missense	probably damaging	1.00
R8457:Nek11	UTSW	9	105347992	missense	probably damaging	1.00
R8536:Nek11	UTSW	9	105298339	missense	probably benign	0.04
R8752:Nek11	UTSW	9	105348008	missense	probably benign	0.00
R8885:Nek11	UTSW	9	105295372	critical splice donor site	probably null
R9098:Nek11	UTSW	9	105293657	missense	probably benign	0.32
Z1176:Nek11	UTSW	9	105293669	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- TTTAAAAGCAAAGCCCTGTGAC -3'
(R):5'- GCCCAACTGTTGTTTCTGTG -3'

Sequencing Primer
(F):5'- GCCCTGTGACTTCAAGTAAAATGG -3'
(R):5'- GTTTGGAGCAATGCTGAAATTCC -3'

Posted On

2015-09-25