Incidental Mutation 'R4130:Nup35'
| ID |
315501 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup35
|
| Ensembl Gene |
ENSMUSG00000026999 |
| Gene Name |
nucleoporin 35 |
| Synonyms |
2310006I24Rik, 5330402E05Rik |
| MMRRC Submission |
041636-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4130 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
80469156-80490415 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 80486443 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122132
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028382]
[ENSMUST00000124377]
|
| AlphaFold |
Q8R4R6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028382
|
| SMART Domains |
Protein: ENSMUSP00000028382
Gene: ENSMUSG00000026999
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nup35_RRM
|
166 |
251 |
8.2e-30 |
PFAM |
|
Pfam:Nup35_RRM_2
|
172 |
224 |
9.5e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124377
|
| SMART Domains |
Protein: ENSMUSP00000122132
Gene: ENSMUSG00000026999
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4LIR|B
|
150 |
179 |
3e-14 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127926
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135305
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (29/29) |
| 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 nucleoporin family. The encoded protein contains two membrane binding regions, is localized to the nuclear rim, and is part of the nuclear pore complex. All molecules entering or leaving the nucleus either diffuse through or are actively transported by the nuclear pore complex. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene have been defined on chromosomes 7 and 10. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygous knockout through a point mutation in a critical functional domain leads to early death as a result of megacolon caused by colon myopathy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700021A07Rik |
T |
C |
10: 21,301,441 (GRCm39) |
|
noncoding transcript |
Het |
| A4gnt |
A |
G |
9: 99,502,671 (GRCm39) |
D277G |
possibly damaging |
Het |
| Adam12 |
C |
T |
7: 133,514,653 (GRCm39) |
V345I |
probably damaging |
Het |
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Arpp21 |
T |
A |
9: 111,984,376 (GRCm39) |
|
probably benign |
Het |
| Bbx |
T |
C |
16: 50,045,221 (GRCm39) |
K447E |
probably damaging |
Het |
| Bcar1 |
A |
G |
8: 112,440,797 (GRCm39) |
L399P |
possibly damaging |
Het |
| Cytl1 |
T |
C |
5: 37,892,985 (GRCm39) |
S32P |
probably damaging |
Het |
| Eif4e1b |
C |
T |
13: 54,935,130 (GRCm39) |
T219M |
probably benign |
Het |
| F10 |
A |
G |
8: 13,105,584 (GRCm39) |
D383G |
possibly damaging |
Het |
| Gm37267 |
T |
G |
1: 180,336,643 (GRCm39) |
|
noncoding transcript |
Het |
| Golga2 |
G |
A |
2: 32,178,178 (GRCm39) |
R29H |
probably benign |
Het |
| Gpd1 |
A |
T |
15: 99,617,158 (GRCm39) |
|
probably null |
Het |
| Lrrk2 |
G |
A |
15: 91,639,997 (GRCm39) |
R1514Q |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,568,188 (GRCm39) |
E1511G |
unknown |
Het |
| Or13n4 |
C |
T |
7: 106,422,792 (GRCm39) |
G314S |
probably benign |
Het |
| Pdzd9 |
A |
T |
7: 120,262,092 (GRCm39) |
D123E |
possibly damaging |
Het |
| Pramel29 |
T |
A |
4: 143,935,379 (GRCm39) |
I121F |
probably damaging |
Het |
| Rab3gap2 |
A |
G |
1: 184,936,494 (GRCm39) |
D19G |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,373,832 (GRCm39) |
S4972P |
probably damaging |
Het |
| Skap1 |
A |
G |
11: 96,416,871 (GRCm39) |
Y52C |
probably damaging |
Het |
| Sphkap |
T |
C |
1: 83,255,619 (GRCm39) |
N710S |
probably damaging |
Het |
| Tedc1 |
T |
A |
12: 113,126,828 (GRCm39) |
D363E |
probably benign |
Het |
| Vmn2r44 |
T |
A |
7: 8,370,918 (GRCm39) |
Q709H |
probably damaging |
Het |
| Wdr5 |
G |
T |
2: 27,410,441 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Nup35 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00645:Nup35
|
APN |
2 |
80,485,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02039:Nup35
|
APN |
2 |
80,473,119 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02538:Nup35
|
APN |
2 |
80,474,563 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03167:Nup35
|
APN |
2 |
80,488,660 (GRCm39) |
unclassified |
probably benign |
|
|
R0540:Nup35
|
UTSW |
2 |
80,472,984 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0607:Nup35
|
UTSW |
2 |
80,472,984 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4029:Nup35
|
UTSW |
2 |
80,483,318 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4050:Nup35
|
UTSW |
2 |
80,486,320 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4131:Nup35
|
UTSW |
2 |
80,486,443 (GRCm39) |
unclassified |
probably benign |
|
|
R4477:Nup35
|
UTSW |
2 |
80,487,487 (GRCm39) |
unclassified |
probably benign |
|
|
R6374:Nup35
|
UTSW |
2 |
80,488,730 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7191:Nup35
|
UTSW |
2 |
80,488,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7723:Nup35
|
UTSW |
2 |
80,486,375 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8077:Nup35
|
UTSW |
2 |
80,469,280 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCACGTCAATTTTGTCCTCATG -3'
(R):5'- TTAGTACTACTCCACACAAGTTACC -3'
Sequencing Primer
(F):5'- GTCAATTTTGTCCTCATGTTTGTATG -3'
(R):5'- TGCCATTTCACAAACTAGG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation