Incidental Mutation 'IGL01369:Nek11'
ID |
76080 |
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 # |
IGL01369
|
Quality Score |
|
Status
|
|
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 105177259 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116864
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038648]
[ENSMUST00000140851]
[ENSMUST00000156256]
[ENSMUST00000177029]
|
AlphaFold |
Q8C0Q4 |
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 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: 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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm4 |
T |
C |
4: 144,401,215 (GRCm39) |
T90A |
possibly damaging |
Het |
Abi2 |
A |
G |
1: 60,476,215 (GRCm39) |
T96A |
probably damaging |
Het |
Adam34 |
T |
A |
8: 44,104,094 (GRCm39) |
K517M |
probably benign |
Het |
Atm |
A |
T |
9: 53,426,617 (GRCm39) |
I547N |
probably benign |
Het |
Cadm4 |
A |
T |
7: 24,198,947 (GRCm39) |
D74V |
possibly damaging |
Het |
Caprin1 |
G |
A |
2: 103,599,210 (GRCm39) |
P46S |
probably damaging |
Het |
Cbl |
A |
T |
9: 44,112,358 (GRCm39) |
Y112* |
probably null |
Het |
Ccdc180 |
T |
C |
4: 45,900,256 (GRCm39) |
V246A |
probably benign |
Het |
Chd1 |
A |
T |
17: 15,975,259 (GRCm39) |
E1103V |
probably damaging |
Het |
Clock |
G |
A |
5: 76,384,933 (GRCm39) |
P428L |
probably benign |
Het |
Cntn2 |
T |
A |
1: 132,443,843 (GRCm39) |
I979F |
probably benign |
Het |
Col2a1 |
A |
G |
15: 97,875,707 (GRCm39) |
S1193P |
unknown |
Het |
Fga |
A |
T |
3: 82,937,507 (GRCm39) |
Y128F |
probably benign |
Het |
Glyr1 |
A |
T |
16: 4,838,152 (GRCm39) |
D365E |
probably benign |
Het |
Gmppb |
G |
A |
9: 107,928,446 (GRCm39) |
|
probably null |
Het |
Gmps |
A |
T |
3: 63,909,013 (GRCm39) |
H505L |
probably benign |
Het |
Hexim2 |
A |
G |
11: 103,029,464 (GRCm39) |
N172S |
probably benign |
Het |
Hmgcr |
T |
C |
13: 96,803,030 (GRCm39) |
E65G |
probably null |
Het |
Hsd17b4 |
T |
C |
18: 50,305,100 (GRCm39) |
S446P |
possibly damaging |
Het |
Kirrel3 |
C |
T |
9: 34,927,737 (GRCm39) |
T382I |
probably benign |
Het |
Klra7 |
A |
T |
6: 130,203,498 (GRCm39) |
Y169* |
probably null |
Het |
Lmbrd1 |
T |
C |
1: 24,745,055 (GRCm39) |
|
probably benign |
Het |
Loxhd1 |
A |
G |
18: 77,416,897 (GRCm39) |
E211G |
possibly damaging |
Het |
Maf1 |
T |
A |
15: 76,236,892 (GRCm39) |
F44I |
probably damaging |
Het |
Mmd2 |
A |
G |
5: 142,560,984 (GRCm39) |
S84P |
probably damaging |
Het |
Morc2b |
T |
C |
17: 33,357,139 (GRCm39) |
E211G |
probably benign |
Het |
Mov10l1 |
T |
C |
15: 88,909,040 (GRCm39) |
|
probably benign |
Het |
Mycbp2 |
C |
A |
14: 103,392,946 (GRCm39) |
C3205F |
possibly damaging |
Het |
Myg1 |
G |
A |
15: 102,242,773 (GRCm39) |
V155M |
probably benign |
Het |
Ncam2 |
A |
G |
16: 81,258,459 (GRCm39) |
N247S |
probably benign |
Het |
Nt5dc3 |
T |
A |
10: 86,656,139 (GRCm39) |
|
probably benign |
Het |
Nudcd3 |
A |
G |
11: 6,100,551 (GRCm39) |
Y134H |
probably damaging |
Het |
Ogfod1 |
T |
C |
8: 94,789,719 (GRCm39) |
|
probably null |
Het |
Or5b99 |
A |
T |
19: 12,977,125 (GRCm39) |
L258F |
possibly damaging |
Het |
Orm2 |
T |
C |
4: 63,281,215 (GRCm39) |
V51A |
probably benign |
Het |
P2ry14 |
T |
C |
3: 59,022,756 (GRCm39) |
I244V |
probably damaging |
Het |
Poll |
A |
G |
19: 45,542,115 (GRCm39) |
V397A |
probably damaging |
Het |
Ppdpf |
C |
A |
2: 180,829,687 (GRCm39) |
|
probably benign |
Het |
Ptch1 |
T |
C |
13: 63,659,495 (GRCm39) |
E1249G |
probably benign |
Het |
Rdh16f1 |
C |
A |
10: 127,595,844 (GRCm39) |
T13K |
probably benign |
Het |
Rrp1 |
G |
A |
10: 78,240,905 (GRCm39) |
|
probably benign |
Het |
Sec14l2 |
A |
G |
11: 4,053,432 (GRCm39) |
M346T |
probably benign |
Het |
Sh2d2a |
A |
T |
3: 87,759,136 (GRCm39) |
Q246L |
probably benign |
Het |
Slc44a1 |
G |
A |
4: 53,491,448 (GRCm39) |
D62N |
probably damaging |
Het |
Snx22 |
A |
G |
9: 65,976,060 (GRCm39) |
Y58H |
probably damaging |
Het |
Spata31f1a |
T |
C |
4: 42,852,548 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,599,779 (GRCm39) |
D19104V |
probably damaging |
Het |
Ugt2a3 |
T |
C |
5: 87,474,979 (GRCm39) |
S422G |
probably damaging |
Het |
Zfyve19 |
G |
T |
2: 119,041,094 (GRCm39) |
|
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 |
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 |