Incidental Mutation 'R8806:Nup88'
ID |
672083 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nup88
|
Ensembl Gene |
ENSMUSG00000040667 |
Gene Name |
nucleoporin 88 |
Synonyms |
Nup84, Prei2 |
MMRRC Submission |
068612-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
R8806 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
70833884-70860799 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 70834941 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 692
(K692N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000048101
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035283]
[ENSMUST00000076270]
[ENSMUST00000081362]
[ENSMUST00000100928]
[ENSMUST00000108530]
[ENSMUST00000108531]
[ENSMUST00000108533]
[ENSMUST00000177731]
[ENSMUST00000178245]
|
AlphaFold |
Q8CEC0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035283
AA Change: K692N
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000048101 Gene: ENSMUSG00000040667 AA Change: K692N
Domain | Start | End | E-Value | Type |
Pfam:Nup88
|
13 |
752 |
1.1e-306 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000076270
|
SMART Domains |
Protein: ENSMUSP00000075619 Gene: ENSMUSG00000020817
Domain | Start | End | E-Value | Type |
Pfam:Rabaptin
|
89 |
195 |
8.8e-47 |
PFAM |
low complexity region
|
314 |
327 |
N/A |
INTRINSIC |
Pfam:Rabaptin
|
461 |
596 |
7.6e-39 |
PFAM |
Pfam:Rab5-bind
|
612 |
807 |
5.7e-51 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000081362
|
SMART Domains |
Protein: ENSMUSP00000080102 Gene: ENSMUSG00000020817
Domain | Start | End | E-Value | Type |
Pfam:Rabaptin
|
89 |
198 |
2.4e-45 |
PFAM |
low complexity region
|
274 |
287 |
N/A |
INTRINSIC |
Pfam:Rabaptin
|
421 |
556 |
7.1e-39 |
PFAM |
Pfam:Rab5-bind
|
572 |
767 |
5.2e-51 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100928
|
SMART Domains |
Protein: ENSMUSP00000098488 Gene: ENSMUSG00000020817
Domain | Start | End | E-Value | Type |
Pfam:Rabaptin
|
89 |
195 |
8.3e-47 |
PFAM |
low complexity region
|
314 |
327 |
N/A |
INTRINSIC |
Pfam:Rabaptin
|
461 |
561 |
2.9e-27 |
PFAM |
Pfam:Rab5-bind
|
577 |
772 |
5.3e-51 |
PFAM |
low complexity region
|
803 |
817 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108530
AA Change: K681N
PolyPhen 2
Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000104170 Gene: ENSMUSG00000040667 AA Change: K681N
Domain | Start | End | E-Value | Type |
Pfam:Nup88
|
11 |
742 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108531
AA Change: K686N
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000104171 Gene: ENSMUSG00000040667 AA Change: K686N
Domain | Start | End | E-Value | Type |
Pfam:Nup88
|
11 |
747 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108533
|
SMART Domains |
Protein: ENSMUSP00000104173 Gene: ENSMUSG00000020817
Domain | Start | End | E-Value | Type |
Pfam:Rabaptin
|
9 |
495 |
2.8e-301 |
PFAM |
Pfam:Rab5-bind
|
533 |
841 |
2e-142 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177731
|
SMART Domains |
Protein: ENSMUSP00000136069 Gene: ENSMUSG00000020817
Domain | Start | End | E-Value | Type |
Pfam:Rabaptin
|
5 |
111 |
6.2e-47 |
PFAM |
low complexity region
|
230 |
243 |
N/A |
INTRINSIC |
Pfam:Rabaptin
|
377 |
512 |
5.3e-39 |
PFAM |
Pfam:Rab5-bind
|
528 |
723 |
1.4e-50 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178245
|
SMART Domains |
Protein: ENSMUSP00000137267 Gene: ENSMUSG00000020817
Domain | Start | End | E-Value | Type |
Pfam:Rabaptin
|
46 |
152 |
8.2e-47 |
PFAM |
low complexity region
|
271 |
284 |
N/A |
INTRINSIC |
Pfam:Rabaptin
|
418 |
553 |
7e-39 |
PFAM |
Pfam:Rab5-bind
|
569 |
764 |
5.2e-51 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000178253
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.4%
|
Validation Efficiency |
100% (66/66) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca1 |
T |
C |
4: 53,084,520 (GRCm39) |
M586V |
probably benign |
Het |
Adam6b |
G |
A |
12: 113,455,418 (GRCm39) |
R745H |
possibly damaging |
Het |
Afg3l1 |
A |
G |
8: 124,220,657 (GRCm39) |
D462G |
probably damaging |
Het |
Anapc1 |
T |
A |
2: 128,464,333 (GRCm39) |
Q1721L |
possibly damaging |
Het |
Arhgap11a |
T |
C |
2: 113,665,107 (GRCm39) |
Y497C |
possibly damaging |
Het |
Bcl7b |
T |
G |
5: 135,208,824 (GRCm39) |
S96A |
possibly damaging |
Het |
Birc6 |
T |
C |
17: 74,949,311 (GRCm39) |
V3111A |
probably damaging |
Het |
Cbx1 |
A |
G |
11: 96,692,383 (GRCm39) |
D90G |
possibly damaging |
Het |
Cdkl3 |
T |
C |
11: 51,923,295 (GRCm39) |
F524S |
possibly damaging |
Het |
Cops7b |
G |
A |
1: 86,517,031 (GRCm39) |
G44R |
probably damaging |
Het |
D130043K22Rik |
A |
G |
13: 25,083,618 (GRCm39) |
S1028G |
probably benign |
Het |
Decr1 |
T |
A |
4: 15,945,351 (GRCm39) |
M1L |
probably benign |
Het |
Dmtn |
T |
C |
14: 70,852,388 (GRCm39) |
I167V |
probably benign |
Het |
Dnah9 |
A |
G |
11: 65,750,309 (GRCm39) |
L3932P |
probably damaging |
Het |
Ece1 |
T |
A |
4: 137,672,452 (GRCm39) |
I365N |
probably damaging |
Het |
Efcab3 |
T |
A |
11: 104,928,695 (GRCm39) |
M4815K |
probably benign |
Het |
Exo5 |
T |
C |
4: 120,779,602 (GRCm39) |
T88A |
probably benign |
Het |
Frem3 |
T |
C |
8: 81,390,064 (GRCm39) |
Y1772H |
probably benign |
Het |
Gm5160 |
A |
G |
18: 14,557,931 (GRCm39) |
N3D |
possibly damaging |
Het |
Gm7138 |
T |
A |
10: 77,612,717 (GRCm39) |
D21V |
unknown |
Het |
Gm7298 |
C |
A |
6: 121,761,641 (GRCm39) |
|
silent |
Het |
Gucy2e |
A |
G |
11: 69,126,942 (GRCm39) |
V177A |
probably benign |
Het |
Islr |
C |
A |
9: 58,064,256 (GRCm39) |
G417V |
unknown |
Het |
Kif13a |
A |
T |
13: 46,914,813 (GRCm39) |
M1458K |
possibly damaging |
Het |
Mcm7 |
T |
C |
5: 138,163,347 (GRCm39) |
D642G |
possibly damaging |
Het |
Med24 |
A |
T |
11: 98,595,970 (GRCm39) |
I941N |
probably damaging |
Het |
Mrgprb8 |
C |
T |
7: 48,038,976 (GRCm39) |
P216S |
possibly damaging |
Het |
Myo5c |
T |
A |
9: 75,150,054 (GRCm39) |
V13D |
probably damaging |
Het |
N4bp2 |
T |
A |
5: 65,965,551 (GRCm39) |
I1200K |
possibly damaging |
Het |
Naip6 |
G |
A |
13: 100,437,161 (GRCm39) |
T454M |
possibly damaging |
Het |
Nfkb1 |
T |
C |
3: 135,295,213 (GRCm39) |
Y877C |
probably damaging |
Het |
Nolc1 |
C |
A |
19: 46,071,471 (GRCm39) |
S473R |
unknown |
Het |
Nop16 |
A |
C |
13: 54,737,672 (GRCm39) |
|
probably benign |
Het |
Nr3c2 |
T |
C |
8: 77,969,092 (GRCm39) |
I959T |
probably damaging |
Het |
Nvl |
C |
A |
1: 180,922,619 (GRCm39) |
G818V |
probably benign |
Het |
Or1i2 |
G |
T |
10: 78,447,974 (GRCm39) |
T167N |
probably benign |
Het |
Or4k6 |
T |
A |
14: 50,475,376 (GRCm39) |
E322V |
probably benign |
Het |
Or4n4 |
A |
G |
14: 50,519,236 (GRCm39) |
I158T |
probably benign |
Het |
Or4s2b |
T |
C |
2: 88,508,955 (GRCm39) |
V245A |
probably benign |
Het |
Or8b49 |
A |
T |
9: 38,506,405 (GRCm39) |
D296V |
probably damaging |
Het |
Or8k1 |
T |
C |
2: 86,047,200 (GRCm39) |
I285V |
probably damaging |
Het |
Plxnc1 |
G |
A |
10: 94,635,140 (GRCm39) |
S1362L |
probably damaging |
Het |
Ppfia2 |
C |
T |
10: 106,694,114 (GRCm39) |
A696V |
probably damaging |
Het |
Prl |
A |
G |
13: 27,243,515 (GRCm39) |
Y62C |
probably damaging |
Het |
Rnf135 |
A |
G |
11: 80,089,762 (GRCm39) |
D366G |
probably damaging |
Het |
Rrp8 |
A |
G |
7: 105,384,244 (GRCm39) |
L86P |
probably damaging |
Het |
Rsph4a |
T |
C |
10: 33,785,445 (GRCm39) |
V452A |
probably damaging |
Het |
Runx2 |
C |
A |
17: 44,950,570 (GRCm39) |
V410L |
probably benign |
Het |
Samd9l |
T |
C |
6: 3,376,665 (GRCm39) |
T199A |
probably damaging |
Het |
Sik3 |
T |
C |
9: 46,120,365 (GRCm39) |
S745P |
probably damaging |
Het |
Slc35e1 |
T |
A |
8: 73,241,973 (GRCm39) |
S250C |
probably damaging |
Het |
Snx31 |
A |
G |
15: 36,537,698 (GRCm39) |
F160S |
probably damaging |
Het |
Spata31g1 |
A |
G |
4: 42,971,261 (GRCm39) |
D198G |
probably benign |
Het |
Stim2 |
T |
A |
5: 54,156,257 (GRCm39) |
V11E |
probably benign |
Het |
Tektl1 |
A |
G |
10: 78,588,306 (GRCm39) |
V168A |
probably damaging |
Het |
Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
Tox4 |
T |
C |
14: 52,524,318 (GRCm39) |
S151P |
probably damaging |
Het |
Trim34b |
A |
T |
7: 103,985,319 (GRCm39) |
D318V |
probably damaging |
Het |
Ubtd1 |
T |
C |
19: 42,022,195 (GRCm39) |
S156P |
probably damaging |
Het |
Usp34 |
C |
A |
11: 23,434,143 (GRCm39) |
L3240M |
|
Het |
Vmn1r56 |
T |
C |
7: 5,198,805 (GRCm39) |
S271G |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,472,212 (GRCm39) |
|
probably benign |
Het |
Vps13c |
T |
C |
9: 67,853,110 (GRCm39) |
F2401S |
probably damaging |
Het |
Zbtb11 |
G |
A |
16: 55,802,637 (GRCm39) |
V216I |
probably damaging |
Het |
Zfp931 |
T |
C |
2: 177,709,589 (GRCm39) |
T266A |
possibly damaging |
Het |
Zfp956 |
A |
G |
6: 47,933,042 (GRCm39) |
M106V |
probably benign |
Het |
|
Other mutations in Nup88 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02081:Nup88
|
APN |
11 |
70,845,480 (GRCm39) |
splice site |
probably benign |
|
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 |
|
R9368:Nup88
|
UTSW |
11 |
70,858,756 (GRCm39) |
missense |
probably damaging |
0.99 |
R9748:Nup88
|
UTSW |
11 |
70,860,497 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACTTTCGCTGGTAGGCACTG -3'
(R):5'- CCTCACCAAATTCTTGAGCTAC -3'
Sequencing Primer
(F):5'- CTGGTAGGCACTGAGAGTAATG -3'
(R):5'- TGAGCTACAAACTTTGTTTCTCTTG -3'
|
Posted On |
2021-04-30 |