Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01958:Nek11'

181448

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nek11

Ensembl Gene

ENSMUSG00000035032

Gene Name

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

Synonyms

4932416N14Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01958

Quality Score

Status

Chromosome

Chromosomal Location

105162156-105395524 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105300303 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 250 (T250A)

Ref Sequence

ENSEMBL: ENSMUSP00000038611 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038648] [ENSMUST00000140851] [ENSMUST00000156256] [ENSMUST00000177029]

AlphaFold

Q8C0Q4

Predicted Effect

probably benign
Transcript: ENSMUST00000038648
AA Change: T250A

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000038611
Gene: ENSMUSG00000035032
AA Change: T250A

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: ENSMUST00000140851
AA Change: T250A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000116864
Gene: ENSMUSG00000035032
AA Change: T250A

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: 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

Coding Region Coverage

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4732465J04Rik	T	C	10: 95,793,797	I29T	probably damaging	Het
5830411N06Rik	T	C	7: 140,274,127	C348R	probably damaging	Het
Agps	G	A	2: 75,909,701		probably null	Het
Agxt2	A	G	15: 10,393,708		probably null	Het
Ahnak	T	C	19: 9,014,909	V4519A	possibly damaging	Het
Aktip	T	C	8: 91,126,225	D159G	probably damaging	Het
Ankrd44	T	C	1: 54,766,966	I94V	probably damaging	Het
Asph	T	C	4: 9,474,904	E674G	possibly damaging	Het
Atat1	T	A	17: 35,908,843		probably benign	Het
Ccar1	G	A	10: 62,790,935	A20V	possibly damaging	Het
Cdc26	T	C	4: 62,402,764	D14G	probably damaging	Het
Cdh15	T	C	8: 122,859,350	F156S	probably damaging	Het
Dctn1	A	G	6: 83,191,344	T525A	possibly damaging	Het
Dnah8	T	G	17: 30,855,895		probably benign	Het
Dnajc10	T	A	2: 80,321,304		probably benign	Het
Dtl	C	A	1: 191,568,377	W125L	probably damaging	Het
Fam3c	G	A	6: 22,318,955	T149I	probably damaging	Het
Fgd6	A	G	10: 94,138,308	T1304A	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm6578	A	G	6: 12,099,767		noncoding transcript	Het
Gnai1	A	G	5: 18,273,570	F199S	probably damaging	Het
Grb7	T	A	11: 98,454,654	V480D	probably damaging	Het
Hdc	A	G	2: 126,594,532	L473P	possibly damaging	Het
Hmcn1	T	C	1: 150,603,871	N4614S	probably benign	Het
Il20ra	A	G	10: 19,759,043	D344G	probably benign	Het
Ints1	C	T	5: 139,760,088	R1342Q	possibly damaging	Het
Itga9	T	A	9: 118,636,494		probably benign	Het
Kat14	T	C	2: 144,394,365	L339P	probably damaging	Het
Klhl22	A	G	16: 17,776,462	I152V	probably benign	Het
Krtap5-2	C	A	7: 142,175,722	G74*	probably null	Het
Lrrc59	C	A	11: 94,638,528		probably null	Het
Map3k13	A	G	16: 21,892,123	Q52R	probably benign	Het
Mb21d2	A	G	16: 28,827,743		probably benign	Het
Mphosph9	A	T	5: 124,324,990		probably benign	Het
Myrf	A	G	19: 10,210,378		probably benign	Het
Nek5	A	T	8: 22,096,826	V323E	probably benign	Het
Nfasc	A	T	1: 132,608,438	C586*	probably null	Het
Nup210l	T	A	3: 90,203,924	L1711Q	possibly damaging	Het
Parp8	T	G	13: 116,876,572	K644Q	probably benign	Het
Pcnt	G	T	10: 76,433,679	Q252K	probably damaging	Het
Pianp	A	G	6: 125,000,683	T181A	possibly damaging	Het
Pkd1	T	C	17: 24,580,324	V2839A	probably damaging	Het
Poli	C	T	18: 70,526,586	R58H	possibly damaging	Het
Ptk7	T	C	17: 46,579,427	D447G	probably benign	Het
Rapgef5	A	G	12: 117,730,651	I637V	probably benign	Het
Rasip1	A	T	7: 45,636,764	R804*	probably null	Het
Relt	A	G	7: 100,851,143	V113A	probably benign	Het
Rnf215	G	T	11: 4,140,317	C345F	probably damaging	Het
Scn2a	A	G	2: 65,701,829	D595G	probably damaging	Het
Serpina3k	G	A	12: 104,341,057	V183M	probably damaging	Het
Snapc4	T	C	2: 26,366,440		probably benign	Het
Sparcl1	A	T	5: 104,092,540	D339E	probably benign	Het
Tg	T	C	15: 66,759,486	F535L	probably benign	Het
Zbtb45	C	A	7: 13,006,276	A471S	probably benign	Het
Zfp106	T	A	2: 120,534,807	K373M	probably benign	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
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
R4594:Nek11	UTSW	9	105392847	critical splice donor site	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
R9616:Nek11	UTSW	9	105204812	missense	probably damaging	1.00
Z1176:Nek11	UTSW	9	105293669	missense	probably benign	0.28

Posted On

2014-05-07