Incidental Mutation 'IGL03400:Nek11'
ID |
421383 |
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 # |
IGL03400
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
105039355-105272723 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 105082065 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 513
(A513T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038611
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038648]
[ENSMUST00000177029]
|
AlphaFold |
Q8C0Q4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000038648
AA Change: A513T
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000038611 Gene: ENSMUSG00000035032 AA Change: A513T
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: 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: ENSMUST00000177284
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215670
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
Bmp3 |
T |
C |
5: 99,019,957 (GRCm39) |
S127P |
probably damaging |
Het |
Cemip |
A |
G |
7: 83,607,724 (GRCm39) |
S761P |
probably damaging |
Het |
Cenatac |
A |
G |
9: 44,324,486 (GRCm39) |
V185A |
probably benign |
Het |
Ces3b |
A |
G |
8: 105,819,568 (GRCm39) |
T495A |
probably damaging |
Het |
Cops3 |
A |
T |
11: 59,708,914 (GRCm39) |
D413E |
probably benign |
Het |
Cyp4f16 |
A |
G |
17: 32,769,327 (GRCm39) |
I406V |
probably benign |
Het |
Efcab6 |
A |
T |
15: 83,751,246 (GRCm39) |
|
probably benign |
Het |
Emsy |
A |
G |
7: 98,251,933 (GRCm39) |
V703A |
possibly damaging |
Het |
Fancb |
T |
C |
X: 163,778,587 (GRCm39) |
S587P |
possibly damaging |
Het |
Farp1 |
A |
G |
14: 121,444,733 (GRCm39) |
Y80C |
probably damaging |
Het |
Fgf10 |
T |
C |
13: 118,918,151 (GRCm39) |
|
probably null |
Het |
Fgf13 |
A |
G |
X: 58,171,248 (GRCm39) |
|
probably benign |
Het |
Filip1 |
T |
C |
9: 79,727,755 (GRCm39) |
K288R |
probably benign |
Het |
L3mbtl3 |
T |
C |
10: 26,191,424 (GRCm39) |
N458S |
unknown |
Het |
Or10a3m |
A |
C |
7: 108,312,733 (GRCm39) |
I46L |
probably benign |
Het |
Or11q2 |
T |
A |
X: 48,772,781 (GRCm39) |
L134Q |
probably damaging |
Het |
Or2ah1 |
T |
C |
2: 85,654,094 (GRCm39) |
Y260H |
probably damaging |
Het |
Palld |
G |
T |
8: 61,966,489 (GRCm39) |
A630E |
probably damaging |
Het |
Pdk1 |
T |
C |
2: 71,726,091 (GRCm39) |
M333T |
probably benign |
Het |
Rab9 |
T |
C |
X: 165,240,744 (GRCm39) |
N189S |
probably benign |
Het |
Shtn1 |
C |
T |
19: 59,020,690 (GRCm39) |
|
probably benign |
Het |
Sntg1 |
T |
C |
1: 8,533,638 (GRCm39) |
I339V |
probably damaging |
Het |
Spns3 |
A |
G |
11: 72,390,501 (GRCm39) |
V418A |
possibly damaging |
Het |
St14 |
T |
A |
9: 31,008,267 (GRCm39) |
|
probably benign |
Het |
Tedc2 |
T |
C |
17: 24,438,777 (GRCm39) |
D180G |
probably benign |
Het |
Trim33 |
T |
C |
3: 103,236,459 (GRCm39) |
I523T |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,551,208 (GRCm39) |
M23068L |
probably benign |
Het |
Ttn |
T |
C |
2: 76,579,266 (GRCm39) |
M15549V |
probably damaging |
Het |
Tubgcp6 |
A |
G |
15: 88,992,302 (GRCm39) |
|
probably benign |
Het |
Ube3c |
A |
G |
5: 29,806,345 (GRCm39) |
Y329C |
probably benign |
Het |
Zmym4 |
G |
T |
4: 126,816,920 (GRCm39) |
D259E |
probably benign |
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 |
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 |
2016-08-02 |