Incidental Mutation 'R4029:Nup35'
| ID |
313118 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup35
|
| Ensembl Gene |
ENSMUSG00000026999 |
| Gene Name |
nucleoporin 35 |
| Synonyms |
2310006I24Rik, 5330402E05Rik |
| MMRRC Submission |
040959-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4029 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
80469156-80490415 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80483318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 172
(D172G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028382
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028382]
[ENSMUST00000124377]
|
| AlphaFold |
Q8R4R6 |
| PDB Structure |
Crystal structure of the MPPN domain of mouse Nup35 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028382
AA Change: D172G
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000028382
Gene: ENSMUSG00000026999
AA Change: D172G
| 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
AA Change: D172G
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000122132
Gene: ENSMUSG00000026999
AA Change: D172G
| 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 |
0.1405 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (31/31) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
A |
G |
7: 119,293,008 (GRCm39) |
K46R |
probably benign |
Het |
| Ank |
A |
G |
15: 27,544,343 (GRCm39) |
N35D |
probably damaging |
Het |
| Atp9a |
A |
T |
2: 168,531,245 (GRCm39) |
I174N |
probably damaging |
Het |
| Bfsp1 |
G |
A |
2: 143,673,749 (GRCm39) |
|
probably benign |
Het |
| Cenpq |
T |
C |
17: 41,238,140 (GRCm39) |
T125A |
probably damaging |
Het |
| Dcun1d4 |
A |
G |
5: 73,691,980 (GRCm39) |
D89G |
probably damaging |
Het |
| Dip2b |
A |
G |
15: 100,084,053 (GRCm39) |
Y892C |
probably damaging |
Het |
| Dmrt2 |
T |
G |
19: 25,655,498 (GRCm39) |
S366A |
probably damaging |
Het |
| Exoc7 |
C |
T |
11: 116,197,814 (GRCm39) |
|
probably benign |
Het |
| Gabra4 |
G |
T |
5: 71,729,532 (GRCm39) |
T390K |
probably benign |
Het |
| Gpr68 |
A |
G |
12: 100,845,475 (GRCm39) |
L23P |
probably damaging |
Het |
| Krt17 |
T |
A |
11: 100,148,349 (GRCm39) |
N364I |
probably damaging |
Het |
| Lefty1 |
T |
C |
1: 180,765,346 (GRCm39) |
S305P |
probably benign |
Het |
| Ly6g6d |
T |
A |
17: 35,290,636 (GRCm39) |
Q98L |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Nck2 |
T |
C |
1: 43,593,251 (GRCm39) |
F153L |
probably benign |
Het |
| Niban1 |
G |
A |
1: 151,571,441 (GRCm39) |
V239I |
probably benign |
Het |
| Nme4 |
T |
C |
17: 26,313,196 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Oog4 |
A |
T |
4: 143,166,770 (GRCm39) |
N11K |
probably benign |
Het |
| Phlpp1 |
T |
A |
1: 106,320,279 (GRCm39) |
S1425T |
probably damaging |
Het |
| Pkd1l3 |
T |
A |
8: 110,350,603 (GRCm39) |
S483T |
possibly damaging |
Het |
| Pld2 |
A |
G |
11: 70,445,731 (GRCm39) |
N655S |
probably damaging |
Het |
| Pramel28 |
T |
A |
4: 143,692,354 (GRCm39) |
T216S |
probably benign |
Het |
| Psmd2 |
G |
A |
16: 20,481,955 (GRCm39) |
G896D |
probably damaging |
Het |
| Rcn1 |
G |
T |
2: 105,229,395 (GRCm39) |
Y52* |
probably null |
Het |
| Reck |
T |
C |
4: 43,922,931 (GRCm39) |
I402T |
probably damaging |
Het |
| Shisal2a |
G |
T |
4: 108,240,412 (GRCm39) |
C43* |
probably null |
Het |
| Ston2 |
T |
C |
12: 91,615,037 (GRCm39) |
Q457R |
possibly damaging |
Het |
| Syt10 |
T |
C |
15: 89,698,741 (GRCm39) |
E201G |
probably benign |
Het |
| Ube4a |
G |
A |
9: 44,861,198 (GRCm39) |
|
probably benign |
Het |
| Wdr49 |
C |
A |
3: 75,230,972 (GRCm39) |
L563F |
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 |
|
R4050:Nup35
|
UTSW |
2 |
80,486,320 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4130:Nup35
|
UTSW |
2 |
80,486,443 (GRCm39) |
unclassified |
probably benign |
|
|
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'- AAGCCCATGTGTTTTCATTGG -3'
(R):5'- ACAGCGTGCACAGGATGATC -3'
Sequencing Primer
(F):5'- CCCATGTGTTTTCATTGGTAACTAAC -3'
(R):5'- TGTCTGCAGCTCAGTGAAAC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation