Incidental Mutation 'R4594:Nek11'
ID |
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 |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4594 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
105039355-105272723 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 105270046 bp (GRCm39)
|
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]
[ENSMUST00000177029]
[ENSMUST00000176940]
[ENSMUST00000189758]
[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 |
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000176597
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176940
|
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: ENSMUST00000177402
|
SMART Domains |
Protein: ENSMUSP00000135318 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: 3,625,754 (GRCm39) |
T64A |
probably damaging |
Het |
4933427I04Rik |
A |
T |
4: 123,754,331 (GRCm39) |
T82S |
possibly damaging |
Het |
Adamts15 |
A |
T |
9: 30,832,743 (GRCm39) |
I264N |
probably damaging |
Het |
Alpk1 |
G |
A |
3: 127,477,203 (GRCm39) |
A285V |
probably damaging |
Het |
Auh |
T |
C |
13: 53,067,002 (GRCm39) |
|
probably benign |
Het |
Cacna2d3 |
A |
G |
14: 28,704,303 (GRCm39) |
F826S |
probably benign |
Het |
Ccdc54 |
G |
T |
16: 50,410,380 (GRCm39) |
Y295* |
probably null |
Het |
Ctnna3 |
G |
A |
10: 64,421,858 (GRCm39) |
V551I |
probably benign |
Het |
Diaph3 |
C |
T |
14: 87,223,473 (GRCm39) |
C347Y |
probably damaging |
Het |
Dnajb5 |
A |
G |
4: 42,950,842 (GRCm39) |
|
probably benign |
Het |
Dscam |
A |
T |
16: 96,519,196 (GRCm39) |
I847K |
possibly damaging |
Het |
Fam8a1 |
T |
C |
13: 46,824,742 (GRCm39) |
F243S |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,175,578 (GRCm39) |
I1712V |
possibly damaging |
Het |
Fgfr1 |
T |
C |
8: 26,063,852 (GRCm39) |
V793A |
probably damaging |
Het |
Got2 |
T |
C |
8: 96,598,814 (GRCm39) |
E196G |
probably benign |
Het |
Gsk3b |
G |
A |
16: 37,991,063 (GRCm39) |
C107Y |
possibly damaging |
Het |
H2-M5 |
T |
C |
17: 37,298,697 (GRCm39) |
T250A |
possibly damaging |
Het |
Il17f |
T |
A |
1: 20,848,026 (GRCm39) |
T151S |
probably damaging |
Het |
Ints12 |
A |
G |
3: 132,814,629 (GRCm39) |
N279D |
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Kynu |
T |
A |
2: 43,569,902 (GRCm39) |
S395T |
probably benign |
Het |
Llgl1 |
C |
T |
11: 60,597,147 (GRCm39) |
T226I |
probably benign |
Het |
Mael |
T |
A |
1: 166,063,056 (GRCm39) |
Q132L |
probably damaging |
Het |
Mcpt1 |
A |
T |
14: 56,256,109 (GRCm39) |
R49S |
probably benign |
Het |
Meioc |
G |
T |
11: 102,564,992 (GRCm39) |
G203C |
probably damaging |
Het |
Mfsd4b1 |
A |
G |
10: 39,883,313 (GRCm39) |
S46P |
probably benign |
Het |
Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
Mx2 |
C |
A |
16: 97,348,632 (GRCm39) |
Y268* |
probably null |
Het |
Myom1 |
A |
G |
17: 71,407,069 (GRCm39) |
D1064G |
possibly damaging |
Het |
Nfe2 |
A |
G |
15: 103,157,232 (GRCm39) |
L253S |
probably damaging |
Het |
Nup205 |
T |
C |
6: 35,173,424 (GRCm39) |
I478T |
probably benign |
Het |
Nxpe2 |
T |
C |
9: 48,230,782 (GRCm39) |
D529G |
probably damaging |
Het |
Oard1 |
T |
C |
17: 48,722,267 (GRCm39) |
S88P |
possibly damaging |
Het |
Or11g25 |
A |
G |
14: 50,723,619 (GRCm39) |
R235G |
probably benign |
Het |
Or2p2 |
C |
T |
13: 21,256,692 (GRCm39) |
V260I |
probably benign |
Het |
Or4n4 |
G |
A |
14: 50,519,140 (GRCm39) |
T190I |
probably benign |
Het |
Or51k1 |
T |
C |
7: 103,661,624 (GRCm39) |
D95G |
probably benign |
Het |
Or52e5 |
T |
C |
7: 104,718,797 (GRCm39) |
V41A |
probably benign |
Het |
Or6k6 |
G |
T |
1: 173,944,886 (GRCm39) |
T232N |
probably damaging |
Het |
Or8b1 |
A |
C |
9: 38,400,057 (GRCm39) |
H244P |
probably damaging |
Het |
Osgin1 |
C |
T |
8: 120,171,992 (GRCm39) |
T262I |
possibly damaging |
Het |
Plcb4 |
A |
T |
2: 135,844,519 (GRCm39) |
M146L |
probably damaging |
Het |
Prkdc |
A |
T |
16: 15,585,830 (GRCm39) |
E2456V |
possibly damaging |
Het |
Ptk2 |
G |
A |
15: 73,078,045 (GRCm39) |
A1004V |
probably damaging |
Het |
Rab15 |
G |
A |
12: 76,847,445 (GRCm39) |
|
probably benign |
Het |
Rad51ap2 |
T |
C |
12: 11,507,881 (GRCm39) |
V601A |
probably benign |
Het |
Rasef |
T |
A |
4: 73,698,626 (GRCm39) |
I12F |
possibly damaging |
Het |
Rdh14 |
T |
A |
12: 10,444,567 (GRCm39) |
N139K |
probably damaging |
Het |
Rexo2 |
A |
T |
9: 48,391,717 (GRCm39) |
V46E |
probably damaging |
Het |
Rskr |
T |
A |
11: 78,182,473 (GRCm39) |
V94D |
possibly damaging |
Het |
Slmap |
A |
T |
14: 26,186,772 (GRCm39) |
L68H |
probably damaging |
Het |
Speer3 |
C |
G |
5: 13,846,394 (GRCm39) |
A238G |
possibly damaging |
Het |
Tmem132e |
T |
C |
11: 82,325,894 (GRCm39) |
I206T |
possibly damaging |
Het |
Trappc8 |
A |
T |
18: 20,970,005 (GRCm39) |
V995E |
probably benign |
Het |
Vmn2r12 |
A |
C |
5: 109,234,301 (GRCm39) |
I637S |
probably damaging |
Het |
Vmn2r124 |
T |
C |
17: 18,294,231 (GRCm39) |
F773L |
probably damaging |
Het |
Vmn2r99 |
A |
T |
17: 19,613,924 (GRCm39) |
D548V |
probably damaging |
Het |
Wdr81 |
T |
C |
11: 75,336,620 (GRCm39) |
N1590D |
probably benign |
Het |
Zbtb6 |
A |
T |
2: 37,319,054 (GRCm39) |
N291K |
possibly damaging |
Het |
Zfp119a |
G |
A |
17: 56,173,325 (GRCm39) |
R173C |
probably benign |
Het |
Zmynd15 |
T |
C |
11: 70,355,008 (GRCm39) |
L335P |
probably 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 |
|
R4650:Nek11
|
UTSW |
9 |
105,225,279 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4724:Nek11
|
UTSW |
9 |
105,270,169 (GRCm39) |
missense |
possibly damaging |
0.89 |
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'- TTTAAAAGCAAAGCCCTGTGAC -3'
(R):5'- GCCCAACTGTTGTTTCTGTG -3'
Sequencing Primer
(F):5'- GCCCTGTGACTTCAAGTAAAATGG -3'
(R):5'- GTTTGGAGCAATGCTGAAATTCC -3'
|
Posted On |
2015-09-25 |