Incidental Mutation 'IGL00939:Nup50'
| ID |
29068 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nup50
|
| Ensembl Gene |
ENSMUSG00000016619 |
| Gene Name |
nucleoporin 50 |
| Synonyms |
Npap60, 1700030K07Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00939
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
84807612-84827164 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to G
at 84822621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 381
(L381*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155656
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165443]
[ENSMUST00000230411]
|
| AlphaFold |
Q9JIH2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000165443
AA Change: L381*
|
| SMART Domains |
Protein: ENSMUSP00000131457
Gene: ENSMUSG00000016619
AA Change: L381*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NUP50
|
2 |
80 |
1.2e-22 |
PFAM |
|
low complexity region
|
277 |
302 |
N/A |
INTRINSIC |
|
RanBD
|
340 |
463 |
4.83e-6 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000230411
AA Change: L381*
|
| 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 are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins that functions as a soluble cofactor in importin-alpha:beta-mediated nuclear protein import. Pseudogenes of this gene are found on chromosomes 5, 6, and 14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation die perinatally, displaying neural tube defects, exencephaly, and intrauterine growth retardation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
C |
A |
5: 35,981,359 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
T |
C |
3: 88,942,543 (GRCm39) |
V2061A |
probably damaging |
Het |
| Csnk1a1 |
A |
G |
18: 61,708,521 (GRCm39) |
D194G |
probably damaging |
Het |
| Dop1b |
T |
A |
16: 93,570,971 (GRCm39) |
S1657T |
possibly damaging |
Het |
| Hcn4 |
A |
G |
9: 58,751,210 (GRCm39) |
I279V |
probably benign |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Lamb1 |
T |
C |
12: 31,352,926 (GRCm39) |
S828P |
probably damaging |
Het |
| Morc1 |
G |
A |
16: 48,272,952 (GRCm39) |
C193Y |
probably damaging |
Het |
| Nudt16l1 |
T |
C |
16: 4,757,299 (GRCm39) |
F71L |
probably benign |
Het |
| Pccb |
A |
G |
9: 100,867,922 (GRCm39) |
S372P |
probably damaging |
Het |
| Rnf19b |
A |
G |
4: 128,965,582 (GRCm39) |
R227G |
probably damaging |
Het |
| Ror1 |
A |
G |
4: 100,298,423 (GRCm39) |
I599V |
probably benign |
Het |
| Sipa1l2 |
A |
G |
8: 126,191,174 (GRCm39) |
|
probably benign |
Het |
| Sowahb |
A |
T |
5: 93,191,701 (GRCm39) |
D339E |
probably benign |
Het |
| Ssc5d |
C |
T |
7: 4,939,280 (GRCm39) |
T572I |
possibly damaging |
Het |
| Tnn |
A |
G |
1: 159,975,100 (GRCm39) |
L109P |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,540,425 (GRCm39) |
Q34187R |
possibly damaging |
Het |
| Ube2j2 |
A |
G |
4: 156,040,904 (GRCm39) |
E177G |
possibly damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,015,227 (GRCm39) |
T456A |
probably benign |
Het |
| Wdr1 |
T |
C |
5: 38,692,666 (GRCm39) |
T80A |
probably benign |
Het |
|
| Other mutations in Nup50 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Nup50
|
APN |
15 |
84,819,605 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1483:Nup50
|
UTSW |
15 |
84,823,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1545:Nup50
|
UTSW |
15 |
84,823,993 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2504:Nup50
|
UTSW |
15 |
84,817,859 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3005:Nup50
|
UTSW |
15 |
84,813,661 (GRCm39) |
splice site |
probably null |
|
|
R3690:Nup50
|
UTSW |
15 |
84,823,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4851:Nup50
|
UTSW |
15 |
84,823,912 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5902:Nup50
|
UTSW |
15 |
84,819,641 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7205:Nup50
|
UTSW |
15 |
84,817,859 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8350:Nup50
|
UTSW |
15 |
84,819,476 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8450:Nup50
|
UTSW |
15 |
84,819,476 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9241:Nup50
|
UTSW |
15 |
84,822,611 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9677:Nup50
|
UTSW |
15 |
84,819,479 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R9706:Nup50
|
UTSW |
15 |
84,811,648 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation