Incidental Mutation 'R1337:Nup88'
| ID |
156910 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup88
|
| Ensembl Gene |
ENSMUSG00000040667 |
| Gene Name |
nucleoporin 88 |
| Synonyms |
Nup84, Prei2 |
| MMRRC Submission |
039402-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R1337 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
70833884-70860799 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 70835716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 576
(Q576L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104170
(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: Q581L
PolyPhen 2
Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000048101
Gene: ENSMUSG00000040667
AA Change: Q581L
| 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 damaging
Transcript: ENSMUST00000108530
AA Change: Q576L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104170
Gene: ENSMUSG00000040667
AA Change: Q576L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nup88
|
11 |
742 |
N/A |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108531
AA Change: Q581L
PolyPhen 2
Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000104171
Gene: ENSMUSG00000040667
AA Change: Q581L
| 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 |
noncoding transcript
Transcript: ENSMUST00000141179
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138634
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142220
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128193
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129615
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133188
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123917
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148168
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123192
|
| 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: ENSMUST00000178253
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730522E02Rik |
A |
G |
11: 25,719,033 (GRCm39) |
S37P |
unknown |
Het |
| Abca12 |
T |
C |
1: 71,333,978 (GRCm39) |
I1175V |
probably benign |
Het |
| Ager |
G |
T |
17: 34,819,596 (GRCm39) |
|
probably null |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Cacna1c |
A |
G |
6: 118,604,416 (GRCm39) |
I1278T |
probably damaging |
Het |
| Casp8ap2 |
T |
C |
4: 32,645,721 (GRCm39) |
V1598A |
possibly damaging |
Het |
| Cdk12 |
T |
C |
11: 98,136,497 (GRCm39) |
|
probably null |
Het |
| Ces2g |
A |
T |
8: 105,690,597 (GRCm39) |
Y126F |
possibly damaging |
Het |
| Ehbp1l1 |
A |
T |
19: 5,768,258 (GRCm39) |
M1015K |
probably benign |
Het |
| Engase |
A |
G |
11: 118,373,400 (GRCm39) |
T248A |
possibly damaging |
Het |
| Gsdma |
C |
T |
11: 98,560,533 (GRCm39) |
Q162* |
probably null |
Het |
| Hapln3 |
T |
C |
7: 78,767,824 (GRCm39) |
E190G |
probably benign |
Het |
| Hdc |
T |
C |
2: 126,458,196 (GRCm39) |
Q42R |
probably benign |
Het |
| Larp1b |
C |
T |
3: 40,987,837 (GRCm39) |
P20S |
probably damaging |
Het |
| Macf1 |
T |
G |
4: 123,370,068 (GRCm39) |
R1564S |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,412,361 (GRCm39) |
Y1769C |
unknown |
Het |
| Or51f1 |
T |
C |
7: 102,506,078 (GRCm39) |
N137S |
probably benign |
Het |
| Or7g21 |
A |
G |
9: 19,033,099 (GRCm39) |
I280V |
probably benign |
Het |
| Prune2 |
C |
T |
19: 17,096,971 (GRCm39) |
S825L |
possibly damaging |
Het |
| Ryr3 |
C |
A |
2: 112,610,308 (GRCm39) |
M2301I |
possibly damaging |
Het |
| Sdk2 |
A |
C |
11: 113,723,157 (GRCm39) |
V1278G |
possibly damaging |
Het |
| Sertad3 |
T |
C |
7: 27,175,866 (GRCm39) |
L100P |
probably damaging |
Het |
| Slco5a1 |
T |
C |
1: 13,009,366 (GRCm39) |
T370A |
probably benign |
Het |
| Srrm1 |
A |
G |
4: 135,074,044 (GRCm39) |
|
probably null |
Het |
| Stk32a |
A |
G |
18: 43,394,414 (GRCm39) |
D121G |
probably benign |
Het |
| Ttc7 |
A |
T |
17: 87,597,724 (GRCm39) |
R99W |
probably damaging |
Het |
| Xkr9 |
C |
A |
1: 13,771,348 (GRCm39) |
S288Y |
possibly damaging |
Het |
| Zfp644 |
A |
G |
5: 106,785,420 (GRCm39) |
S376P |
probably damaging |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GTGAGAATGCAGTCCACTACTCACC -3'
(R):5'- GCCAACCCAGCATTTCTCAAGTAGG -3'
Sequencing Primer
(F):5'- CCCTCTGGGTTTGATACCTAC -3'
(R):5'- AACTTATGGCTTTGTGCTTACTAGC -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation