Incidental Mutation 'IGL01348:Nek11'
ID |
75145 |
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)
|
Stock # |
IGL01348
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
105039355-105272723 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 105270112 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 37
(G37S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000135837
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035181]
[ENSMUST00000038648]
[ENSMUST00000123807]
[ENSMUST00000140851]
[ENSMUST00000156256]
[ENSMUST00000177029]
[ENSMUST00000177402]
[ENSMUST00000189758]
[ENSMUST00000176350]
[ENSMUST00000176940]
|
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: G37S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000038611 Gene: ENSMUSG00000035032 AA Change: G37S
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: G37S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000116864 Gene: ENSMUSG00000035032 AA Change: G37S
Domain | Start | End | E-Value | Type |
S_TKc
|
30 |
288 |
3.87e-80 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000156256
AA Change: G37S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116761 Gene: ENSMUSG00000035032 AA Change: G37S
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 damaging
Transcript: ENSMUST00000177029
AA Change: G37S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000135837 Gene: ENSMUSG00000035032 AA Change: G37S
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: 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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176350
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000176940
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700093K21Rik |
T |
C |
11: 23,467,213 (GRCm39) |
E140G |
probably null |
Het |
Adgrl3 |
A |
G |
5: 81,874,570 (GRCm39) |
T956A |
probably damaging |
Het |
Aff4 |
G |
A |
11: 53,293,327 (GRCm39) |
S772N |
probably benign |
Het |
Ark2n |
A |
G |
18: 77,761,613 (GRCm39) |
I233T |
possibly damaging |
Het |
Atad5 |
A |
G |
11: 79,986,390 (GRCm39) |
I492M |
probably benign |
Het |
Atf4 |
T |
C |
15: 80,140,728 (GRCm39) |
|
probably benign |
Het |
Atrip |
A |
G |
9: 108,898,363 (GRCm39) |
S219P |
probably damaging |
Het |
Axl |
G |
A |
7: 25,462,734 (GRCm39) |
R656W |
probably damaging |
Het |
B3gnt3 |
T |
A |
8: 72,145,648 (GRCm39) |
Q240L |
possibly damaging |
Het |
Baz2b |
A |
G |
2: 59,764,031 (GRCm39) |
V915A |
possibly damaging |
Het |
Cacna1s |
T |
C |
1: 136,002,890 (GRCm39) |
V329A |
possibly damaging |
Het |
Celf3 |
C |
A |
3: 94,395,535 (GRCm39) |
Q388K |
possibly damaging |
Het |
Ciita |
T |
C |
16: 10,328,591 (GRCm39) |
S292P |
probably damaging |
Het |
Cip2a |
A |
G |
16: 48,833,551 (GRCm39) |
I551V |
probably damaging |
Het |
Clec18a |
G |
A |
8: 111,798,245 (GRCm39) |
A423V |
probably damaging |
Het |
Clnk |
T |
C |
5: 38,870,550 (GRCm39) |
D336G |
probably damaging |
Het |
Csmd1 |
T |
G |
8: 15,960,596 (GRCm39) |
H3273P |
probably damaging |
Het |
Cyp3a11 |
A |
T |
5: 145,805,817 (GRCm39) |
V157E |
possibly damaging |
Het |
Dcp1b |
T |
C |
6: 119,160,679 (GRCm39) |
I87T |
probably damaging |
Het |
Ell3 |
A |
G |
2: 121,272,277 (GRCm39) |
S66P |
probably damaging |
Het |
Ercc4 |
T |
C |
16: 12,950,798 (GRCm39) |
F631L |
probably damaging |
Het |
Etl4 |
T |
A |
2: 20,811,784 (GRCm39) |
V1289D |
probably damaging |
Het |
Gm16372 |
T |
C |
12: 24,543,606 (GRCm39) |
|
probably benign |
Het |
Gm4553 |
C |
T |
7: 141,718,909 (GRCm39) |
C173Y |
unknown |
Het |
Gvin-ps5 |
T |
A |
7: 105,929,042 (GRCm39) |
H285L |
unknown |
Het |
Gykl1 |
A |
T |
18: 52,827,808 (GRCm39) |
I339F |
possibly damaging |
Het |
H60b |
A |
C |
10: 22,162,078 (GRCm39) |
N101T |
possibly damaging |
Het |
Inpp4a |
C |
T |
1: 37,427,986 (GRCm39) |
T407I |
probably damaging |
Het |
Itga11 |
A |
G |
9: 62,651,861 (GRCm39) |
N331S |
possibly damaging |
Het |
Kbtbd6 |
T |
A |
14: 79,690,783 (GRCm39) |
C430S |
probably damaging |
Het |
Mfsd4a |
T |
C |
1: 131,995,564 (GRCm39) |
S1G |
probably null |
Het |
Mybpc2 |
C |
A |
7: 44,165,352 (GRCm39) |
M372I |
probably benign |
Het |
Myh10 |
A |
T |
11: 68,702,629 (GRCm39) |
T1768S |
probably benign |
Het |
Myh8 |
A |
G |
11: 67,188,606 (GRCm39) |
K1063E |
probably damaging |
Het |
Nat8f5 |
A |
T |
6: 85,794,862 (GRCm39) |
F33I |
probably damaging |
Het |
Nbeal2 |
T |
G |
9: 110,458,214 (GRCm39) |
N2119T |
probably damaging |
Het |
Npc1l1 |
T |
C |
11: 6,177,974 (GRCm39) |
N479D |
probably damaging |
Het |
Nup160 |
A |
G |
2: 90,530,772 (GRCm39) |
T477A |
probably benign |
Het |
Or10al5 |
A |
T |
17: 38,063,177 (GRCm39) |
H144L |
probably benign |
Het |
Or5h18 |
T |
A |
16: 58,848,157 (GRCm39) |
T38S |
probably damaging |
Het |
Pcgf2 |
A |
G |
11: 97,581,066 (GRCm39) |
V259A |
probably benign |
Het |
Pmm1 |
A |
G |
15: 81,836,219 (GRCm39) |
V131A |
probably damaging |
Het |
Polr3a |
A |
T |
14: 24,511,831 (GRCm39) |
D908E |
probably damaging |
Het |
Psg29 |
A |
C |
7: 16,944,598 (GRCm39) |
R369S |
probably benign |
Het |
Ptprq |
T |
A |
10: 107,547,765 (GRCm39) |
D211V |
probably damaging |
Het |
Rdh9 |
A |
G |
10: 127,612,661 (GRCm39) |
N103S |
probably benign |
Het |
Riok3 |
T |
C |
18: 12,286,020 (GRCm39) |
|
probably benign |
Het |
Serpinb1b |
A |
T |
13: 33,275,398 (GRCm39) |
Q174H |
probably benign |
Het |
Sgip1 |
G |
T |
4: 102,772,353 (GRCm39) |
|
probably null |
Het |
Sgpp1 |
A |
T |
12: 75,781,767 (GRCm39) |
Y191N |
probably damaging |
Het |
Slc12a1 |
A |
G |
2: 125,036,051 (GRCm39) |
N641S |
probably damaging |
Het |
Slc5a4b |
T |
C |
10: 75,906,422 (GRCm39) |
N399S |
probably damaging |
Het |
Snx16 |
C |
T |
3: 10,484,219 (GRCm39) |
A335T |
probably damaging |
Het |
Sos2 |
C |
T |
12: 69,664,866 (GRCm39) |
R355H |
probably damaging |
Het |
Szt2 |
A |
G |
4: 118,250,821 (GRCm39) |
|
probably benign |
Het |
Tbcd |
T |
A |
11: 121,387,902 (GRCm39) |
D344E |
probably benign |
Het |
Tek |
C |
A |
4: 94,747,895 (GRCm39) |
Q988K |
probably damaging |
Het |
Tgm6 |
A |
G |
2: 129,979,299 (GRCm39) |
D143G |
probably damaging |
Het |
Tpx2 |
A |
G |
2: 152,735,511 (GRCm39) |
K713R |
probably damaging |
Het |
Trappc9 |
T |
A |
15: 72,808,858 (GRCm39) |
E556V |
possibly damaging |
Het |
Trpm6 |
A |
T |
19: 18,855,015 (GRCm39) |
K1891N |
probably damaging |
Het |
Trpv1 |
G |
A |
11: 73,129,078 (GRCm39) |
|
probably null |
Het |
Usp37 |
T |
C |
1: 74,500,861 (GRCm39) |
S567G |
probably damaging |
Het |
Zfp773 |
A |
T |
7: 7,138,314 (GRCm39) |
V107D |
possibly damaging |
Het |
|
Other mutations in Nek11 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2013-10-07 |