Incidental Mutation 'IGL02081:Nup88'
| ID |
192605 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nup88
|
| Ensembl Gene |
ENSMUSG00000040667 |
| Gene Name |
nucleoporin 88 |
| Synonyms |
Nup84, Prei2 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
IGL02081
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
70833884-70860799 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 70845480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035283]
[ENSMUST00000108530]
[ENSMUST00000108531]
|
| AlphaFold |
Q8CEC0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035283
|
| SMART Domains |
Protein: ENSMUSP00000048101
Gene: ENSMUSG00000040667
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nup88
|
13 |
752 |
1.1e-306 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108530
|
| SMART Domains |
Protein: ENSMUSP00000104170
Gene: ENSMUSG00000040667
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nup88
|
11 |
742 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108531
|
| SMART Domains |
Protein: ENSMUSP00000104171
Gene: ENSMUSG00000040667
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nup88
|
11 |
747 |
N/A |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138634
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145336
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148168
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178253
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000178369
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180225
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
G |
T |
8: 44,023,233 (GRCm39) |
L86I |
probably damaging |
Het |
| Adamts17 |
C |
T |
7: 66,711,858 (GRCm39) |
R726C |
probably damaging |
Het |
| Aff1 |
A |
G |
5: 103,982,171 (GRCm39) |
K778R |
probably damaging |
Het |
| Agr2 |
G |
A |
12: 36,045,655 (GRCm39) |
|
probably null |
Het |
| Alms1 |
T |
A |
6: 85,597,285 (GRCm39) |
C1173S |
possibly damaging |
Het |
| Apol7b |
A |
G |
15: 77,307,736 (GRCm39) |
L253P |
possibly damaging |
Het |
| Atp10a |
A |
T |
7: 58,477,604 (GRCm39) |
T1268S |
possibly damaging |
Het |
| Atr |
A |
T |
9: 95,765,258 (GRCm39) |
K1149N |
probably damaging |
Het |
| Bri3bp |
G |
A |
5: 125,518,961 (GRCm39) |
|
probably null |
Het |
| Ccser1 |
T |
A |
6: 61,288,152 (GRCm39) |
L105* |
probably null |
Het |
| Cyp4a10 |
G |
A |
4: 115,378,369 (GRCm39) |
A152T |
possibly damaging |
Het |
| Dock2 |
C |
T |
11: 34,204,355 (GRCm39) |
D1396N |
probably benign |
Het |
| Ext1 |
A |
T |
15: 52,936,842 (GRCm39) |
Y634* |
probably null |
Het |
| Fbh1 |
T |
C |
2: 11,768,938 (GRCm39) |
D285G |
probably benign |
Het |
| Gcn1 |
A |
G |
5: 115,723,930 (GRCm39) |
K529E |
probably damaging |
Het |
| H2-Q2 |
A |
G |
17: 35,561,684 (GRCm39) |
D58G |
probably damaging |
Het |
| Hid1 |
T |
C |
11: 115,239,332 (GRCm39) |
D776G |
possibly damaging |
Het |
| Il18r1 |
A |
T |
1: 40,537,665 (GRCm39) |
S477C |
probably damaging |
Het |
| Irag1 |
T |
C |
7: 110,523,281 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
T |
G |
10: 67,055,305 (GRCm39) |
F242V |
probably benign |
Het |
| Krtap4-1 |
G |
A |
11: 99,519,010 (GRCm39) |
|
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,938,418 (GRCm39) |
|
probably null |
Het |
| Mpdz |
T |
C |
4: 81,254,106 (GRCm39) |
T1009A |
probably damaging |
Het |
| Mrpl22 |
T |
C |
11: 58,062,647 (GRCm39) |
I19T |
probably benign |
Het |
| Or5b94 |
A |
T |
19: 12,652,180 (GRCm39) |
I204F |
probably benign |
Het |
| Pnpo |
T |
C |
11: 96,830,150 (GRCm39) |
Y183C |
probably damaging |
Het |
| Poln |
C |
T |
5: 34,286,483 (GRCm39) |
M228I |
probably benign |
Het |
| Scara5 |
T |
C |
14: 65,968,104 (GRCm39) |
W126R |
possibly damaging |
Het |
| Scmh1 |
T |
G |
4: 120,372,275 (GRCm39) |
C359W |
probably damaging |
Het |
| Snrpn |
T |
C |
7: 59,637,194 (GRCm39) |
I41V |
possibly damaging |
Het |
| St8sia1 |
T |
C |
6: 142,774,953 (GRCm39) |
M209V |
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,495,391 (GRCm39) |
S89T |
probably damaging |
Het |
| Tet1 |
T |
C |
10: 62,649,597 (GRCm39) |
T1667A |
probably damaging |
Het |
| Tmem217 |
C |
T |
17: 29,745,347 (GRCm39) |
G128S |
probably damaging |
Het |
| Ttpal |
A |
G |
2: 163,457,308 (GRCm39) |
N260S |
probably benign |
Het |
| Vwa2 |
A |
G |
19: 56,890,668 (GRCm39) |
D233G |
probably benign |
Het |
| Wdr83 |
A |
G |
8: 85,802,472 (GRCm39) |
F258L |
probably benign |
Het |
| Zfp277 |
A |
T |
12: 40,378,795 (GRCm39) |
L354* |
probably null |
Het |
| Zfp516 |
A |
G |
18: 82,973,858 (GRCm39) |
R19G |
probably benign |
Het |
|
| Other mutations in Nup88 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02219:Nup88
|
APN |
11 |
70,860,518 (GRCm39) |
missense |
probably benign |
0.45 |
|
IGL02433:Nup88
|
APN |
11 |
70,860,714 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02666:Nup88
|
APN |
11 |
70,834,695 (GRCm39) |
intron |
probably benign |
|
|
IGL02669:Nup88
|
APN |
11 |
70,847,110 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02951:Nup88
|
APN |
11 |
70,835,698 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
unholy
|
UTSW |
11 |
70,847,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4515001:Nup88
|
UTSW |
11 |
70,835,547 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0445:Nup88
|
UTSW |
11 |
70,838,555 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0737:Nup88
|
UTSW |
11 |
70,860,776 (GRCm39) |
start codon destroyed |
probably null |
0.90 |
|
R0920:Nup88
|
UTSW |
11 |
70,847,146 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1337:Nup88
|
UTSW |
11 |
70,835,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2208:Nup88
|
UTSW |
11 |
70,856,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3735:Nup88
|
UTSW |
11 |
70,847,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4577:Nup88
|
UTSW |
11 |
70,860,543 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4600:Nup88
|
UTSW |
11 |
70,860,522 (GRCm39) |
nonsense |
probably null |
|
|
R4663:Nup88
|
UTSW |
11 |
70,856,672 (GRCm39) |
splice site |
probably null |
|
|
R4812:Nup88
|
UTSW |
11 |
70,856,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4824:Nup88
|
UTSW |
11 |
70,852,450 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5333:Nup88
|
UTSW |
11 |
70,835,842 (GRCm39) |
intron |
probably benign |
|
|
R5338:Nup88
|
UTSW |
11 |
70,835,734 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5443:Nup88
|
UTSW |
11 |
70,849,256 (GRCm39) |
nonsense |
probably null |
|
|
R5605:Nup88
|
UTSW |
11 |
70,834,896 (GRCm39) |
intron |
probably benign |
|
|
R5869:Nup88
|
UTSW |
11 |
70,860,497 (GRCm39) |
missense |
probably benign |
|
|
R6287:Nup88
|
UTSW |
11 |
70,856,581 (GRCm39) |
missense |
probably benign |
0.39 |
|
R6364:Nup88
|
UTSW |
11 |
70,838,612 (GRCm39) |
missense |
probably benign |
|
|
R6409:Nup88
|
UTSW |
11 |
70,835,798 (GRCm39) |
missense |
probably null |
0.71 |
|
R6555:Nup88
|
UTSW |
11 |
70,835,006 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7203:Nup88
|
UTSW |
11 |
70,836,080 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7606:Nup88
|
UTSW |
11 |
70,852,441 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7620:Nup88
|
UTSW |
11 |
70,860,605 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7681:Nup88
|
UTSW |
11 |
70,860,711 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8283:Nup88
|
UTSW |
11 |
70,849,166 (GRCm39) |
missense |
probably benign |
|
|
R8379:Nup88
|
UTSW |
11 |
70,860,607 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8684:Nup88
|
UTSW |
11 |
70,860,687 (GRCm39) |
missense |
probably benign |
|
|
R8806:Nup88
|
UTSW |
11 |
70,834,941 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9368:Nup88
|
UTSW |
11 |
70,858,756 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9748:Nup88
|
UTSW |
11 |
70,860,497 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-05-14 |
Incidental Mutation