Mutagenetix > Incidental Mutations

Incidental Mutation 'R8140:Nek11'

632487

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8140 (G1)

Quality Score

187.009

Status

Validated

Chromosome

Chromosomal Location

105162156-105395524 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 105392957 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 22 (P22Q)

Ref Sequence

ENSEMBL: ENSMUSP00000038611 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035181] [ENSMUST00000038648] [ENSMUST00000123807] [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 damaging
Transcript: ENSMUST00000038648
AA Change: P22Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038611
Gene: ENSMUSG00000035032
AA Change: P22Q

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 damaging
Transcript: ENSMUST00000140851
AA Change: P22Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116864
Gene: ENSMUSG00000035032
AA Change: P22Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000156256
AA Change: P22Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116761
Gene: ENSMUSG00000035032
AA Change: P22Q

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

probably benign
Transcript: ENSMUST00000176940

Predicted Effect

probably damaging
Transcript: ENSMUST00000177029
AA Change: P22Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135837
Gene: ENSMUSG00000035032
AA Change: P22Q

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

0.2983

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.6%
20x: 93.9%

Validation Efficiency

97% (64/66)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 63,898,611	V230E	possibly damaging	Het
Amotl1	G	A	9: 14,572,715		probably null	Het
Atp7b	C	A	8: 22,028,560	E87D	probably damaging	Het
Bcat2	C	T	7: 45,588,351	P347L	probably damaging	Het
Brox	A	T	1: 183,293,873		probably null	Het
Cd37	A	G	7: 45,238,535	I58T	probably damaging	Het
Cep295	A	T	9: 15,341,533	M333K	probably benign	Het
Chtop	A	G	3: 90,505,393		probably null	Het
Cpa2	A	T	6: 30,544,905	K54N	probably benign	Het
Cpa6	A	G	1: 10,325,294	S383P	probably damaging	Het
Dnah7a	A	T	1: 53,501,589	I2542N	probably benign	Het
Eif5b	G	A	1: 38,051,276	V1179I	probably benign	Het
Erbin	T	C	13: 103,920,294		probably null	Het
Fastkd5	A	T	2: 130,615,250	D473E	possibly damaging	Het
Fchsd1	T	C	18: 37,964,342	E372G	probably damaging	Het
Fgl1	T	C	8: 41,200,609		probably null	Het
Fzd8	T	G	18: 9,213,797	V293G	probably damaging	Het
Gm4787	T	A	12: 81,378,151	H411L	probably benign	Het
Gm49380	G	T	9: 44,111,972	D326E	probably benign	Het
Hcrtr1	G	A	4: 130,135,290	R240C	probably damaging	Het
Hdac5	A	T	11: 102,197,355	Y948N	probably damaging	Het
Hepacam	A	G	9: 37,383,871	S301G	probably benign	Het
Htra4	A	T	8: 25,030,558	D362E	possibly damaging	Het
Ighv1-9	G	A	12: 114,583,741	P60L	probably damaging	Het
Kcnq3	A	G	15: 65,995,541	I751T	probably damaging	Het
Magi3	T	C	3: 104,034,086	Y851C	probably damaging	Het
Mefv	A	G	16: 3,713,635	S470P	probably benign	Het
Mfsd2a	C	T	4: 122,949,298	V397I	probably benign	Het
Mroh1	C	A	15: 76,433,873	H867N	probably benign	Het
Mthfd1l	C	T	10: 4,007,745	R261*	probably null	Het
Myo3a	A	G	2: 22,407,346	I725M	probably damaging	Het
Neb	T	C	2: 52,209,540	D4766G	possibly damaging	Het
Olfr1179	T	C	2: 88,402,113	T274A	possibly damaging	Het
Olfr1497	A	T	19: 13,795,239	V124E	possibly damaging	Het
Olfr178	T	C	16: 58,889,585	T212A	probably benign	Het
Peg10	C	G	6: 4,756,113	Q230E	unknown	Het
Pipox	T	C	11: 77,883,909	D116G	probably benign	Het
Pkd1l2	C	T	8: 117,047,497	R993H	probably benign	Het
Pkdrej	A	C	15: 85,818,410	N1108K	probably damaging	Het
Polr2a	C	T	11: 69,746,376	R291Q	probably benign	Het
Pomt1	T	A	2: 32,244,297	Y277N	probably damaging	Het
Rasal2	A	G	1: 157,299,235	S78P	probably damaging	Het
Rgl1	A	T	1: 152,557,501	L171Q	probably damaging	Het
Sfta2	A	G	17: 35,601,774	E14G	unknown	Het
Sh3rf3	T	A	10: 59,049,355	S353R	possibly damaging	Het
Slc37a1	A	T	17: 31,322,259	I242F	probably damaging	Het
Srfbp1	T	A	18: 52,488,690	D274E	probably damaging	Het
Syne2	T	A	12: 75,912,353	S685R	possibly damaging	Het
Tenm4	A	C	7: 96,895,176	D2170A	probably damaging	Het
Tnr	A	G	1: 159,863,695	T472A	probably damaging	Het
Tspan9	T	C	6: 127,965,278	H203R	probably damaging	Het
Ttn	T	C	2: 76,771,651	T18556A	possibly damaging	Het
Usp25	T	A	16: 77,071,681	Y323*	probably null	Het
Usp31	G	T	7: 121,649,026	R1065S	possibly damaging	Het
Vmn2r103	A	T	17: 19,811,796	T611S	probably damaging	Het
Wdfy4	A	G	14: 33,142,360	V552A		Het
Zap70	G	T	1: 36,771,181	R124L	possibly damaging	Het
Zfand6	A	T	7: 84,632,749	S91T	possibly 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
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
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'- TGGAGGTGGGGCATCTATACAG -3'
(R):5'- TCTGGCATCAATCAACACTTCC -3'

Sequencing Primer
(F):5'- CAGAGTACAGATCAGATGTGACTCC -3'
(R):5'- AATCAACACTTCCCGTTTGAC -3'

Posted On

2020-06-30