Incidental Mutation 'R2068:Nup133'
| ID |
226849 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup133
|
| Ensembl Gene |
ENSMUSG00000039509 |
| Gene Name |
nucleoporin 133 |
| Synonyms |
4832420O05Rik, mermaid |
| MMRRC Submission |
040073-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2068 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
124623862-124676004 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 124641314 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 869
(D869Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048084
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044795]
[ENSMUST00000127664]
|
| AlphaFold |
Q8R0G9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044795
AA Change: D869Y
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000048084
Gene: ENSMUSG00000039509
AA Change: D869Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
|
PDB:1XKS|A
|
66 |
513 |
N/A |
PDB |
|
Pfam:Nucleoporin_C
|
593 |
1052 |
1.2e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213089
|
| Meta Mutation Damage Score |
0.5513 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. The nucleoporin protein encoded by this gene displays evolutionarily conserved interactions with other nucleoporins. This protein, which localizes to both sides of the nuclear pore complex at interphase, remains associated with the complex during mitosis and is targeted at early stages to the reforming nuclear envelope. This protein also localizes to kinetochores of mitotic cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit embryonic lethality prior to E10.5, abnormal somitogenesis, pericardial edema, growth retardation, and abnormal neural development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933436I01Rik |
T |
A |
X: 66,964,308 (GRCm39) |
I184L |
probably benign |
Het |
| Abcb5 |
A |
T |
12: 118,904,303 (GRCm39) |
C162* |
probably null |
Het |
| Akr1c19 |
A |
T |
13: 4,288,391 (GRCm39) |
|
probably null |
Het |
| Akt3 |
A |
G |
1: 176,930,551 (GRCm39) |
S136P |
possibly damaging |
Het |
| Alox12e |
G |
A |
11: 70,206,828 (GRCm39) |
R620W |
probably damaging |
Het |
| Ascc2 |
A |
T |
11: 4,631,496 (GRCm39) |
M646L |
probably benign |
Het |
| Bsn |
T |
G |
9: 107,987,883 (GRCm39) |
|
probably benign |
Het |
| Bsn |
T |
A |
9: 108,003,749 (GRCm39) |
M219L |
possibly damaging |
Het |
| Btnl9 |
T |
C |
11: 49,060,390 (GRCm39) |
T453A |
probably damaging |
Het |
| C6 |
G |
T |
15: 4,820,552 (GRCm39) |
C521F |
probably damaging |
Het |
| Ccnt1 |
A |
T |
15: 98,449,823 (GRCm39) |
H156Q |
probably benign |
Het |
| Cdh20 |
A |
T |
1: 110,065,666 (GRCm39) |
R647* |
probably null |
Het |
| Clptm1l |
C |
T |
13: 73,755,842 (GRCm39) |
Q153* |
probably null |
Het |
| Cmya5 |
T |
A |
13: 93,227,032 (GRCm39) |
K2685N |
possibly damaging |
Het |
| Cnksr2 |
A |
C |
X: 156,728,302 (GRCm39) |
S224R |
possibly damaging |
Het |
| Cntn1 |
T |
C |
15: 92,215,943 (GRCm39) |
V992A |
possibly damaging |
Het |
| Dapk1 |
G |
A |
13: 60,899,022 (GRCm39) |
D831N |
probably damaging |
Het |
| Dnaaf3 |
T |
C |
7: 4,526,798 (GRCm39) |
I426M |
possibly damaging |
Het |
| Dnah6 |
A |
G |
6: 72,998,165 (GRCm39) |
Y4034H |
probably benign |
Het |
| Dtx2 |
C |
T |
5: 136,059,431 (GRCm39) |
S493F |
probably damaging |
Het |
| Ehd1 |
T |
C |
19: 6,348,108 (GRCm39) |
L362P |
probably benign |
Het |
| Endov |
T |
C |
11: 119,390,408 (GRCm39) |
F12S |
probably damaging |
Het |
| Eps8 |
A |
T |
6: 137,499,172 (GRCm39) |
W239R |
probably benign |
Het |
| Fance |
T |
C |
17: 28,539,799 (GRCm39) |
F83S |
possibly damaging |
Het |
| Fn1 |
A |
G |
1: 71,639,598 (GRCm39) |
V1731A |
probably damaging |
Het |
| Gak |
G |
T |
5: 108,718,091 (GRCm39) |
T1244K |
probably benign |
Het |
| Gas8 |
T |
A |
8: 124,253,276 (GRCm39) |
I208N |
probably damaging |
Het |
| Gm9830 |
A |
T |
9: 44,375,579 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9837 |
T |
A |
11: 53,361,092 (GRCm39) |
|
probably benign |
Het |
| Gtf2f2 |
A |
G |
14: 76,155,136 (GRCm39) |
S142P |
possibly damaging |
Het |
| Hdac3 |
C |
A |
18: 38,076,569 (GRCm39) |
G257V |
probably damaging |
Het |
| Heg1 |
A |
G |
16: 33,547,960 (GRCm39) |
T916A |
probably benign |
Het |
| Herc2 |
G |
T |
7: 55,782,245 (GRCm39) |
G1311C |
probably damaging |
Het |
| Htt |
C |
T |
5: 34,983,326 (GRCm39) |
T975I |
probably benign |
Het |
| Il2rg |
A |
G |
X: 100,311,416 (GRCm39) |
L57P |
possibly damaging |
Het |
| Itm2b |
T |
C |
14: 73,600,575 (GRCm39) |
K242E |
probably damaging |
Het |
| Itpr3 |
G |
A |
17: 27,317,050 (GRCm39) |
M768I |
probably benign |
Het |
| Klrg2 |
G |
A |
6: 38,613,928 (GRCm39) |
T25I |
probably benign |
Het |
| Lcn5 |
G |
A |
2: 25,548,053 (GRCm39) |
V21M |
probably damaging |
Het |
| Liat1 |
T |
C |
11: 75,891,077 (GRCm39) |
S64P |
possibly damaging |
Het |
| Lonp2 |
A |
G |
8: 87,392,403 (GRCm39) |
T490A |
probably damaging |
Het |
| Lrrn3 |
A |
T |
12: 41,502,995 (GRCm39) |
S441T |
probably damaging |
Het |
| Mpdz |
G |
A |
4: 81,254,067 (GRCm39) |
R1W |
probably null |
Het |
| Mpp4 |
G |
A |
1: 59,182,941 (GRCm39) |
P322L |
possibly damaging |
Het |
| Mpzl2 |
G |
A |
9: 44,955,169 (GRCm39) |
|
probably null |
Het |
| Naf1 |
A |
G |
8: 67,340,432 (GRCm39) |
D414G |
probably damaging |
Het |
| Notch3 |
A |
G |
17: 32,354,482 (GRCm39) |
C1748R |
probably benign |
Het |
| Oasl2 |
A |
C |
5: 115,049,298 (GRCm39) |
D466A |
probably benign |
Het |
| Opa3 |
T |
C |
7: 18,978,739 (GRCm39) |
I68T |
possibly damaging |
Het |
| Or2ab1 |
A |
G |
11: 58,488,396 (GRCm39) |
N58S |
probably damaging |
Het |
| Or2ag1 |
T |
A |
7: 106,313,373 (GRCm39) |
R172W |
probably benign |
Het |
| Or2d3c |
T |
G |
7: 106,526,162 (GRCm39) |
Y168S |
probably damaging |
Het |
| Or5p63 |
T |
C |
7: 107,811,547 (GRCm39) |
Y63C |
probably damaging |
Het |
| Or8g37 |
T |
C |
9: 39,731,846 (GRCm39) |
F304L |
probably benign |
Het |
| Pcdh8 |
A |
T |
14: 80,005,651 (GRCm39) |
S912R |
probably damaging |
Het |
| Pdzrn3 |
T |
C |
6: 101,127,660 (GRCm39) |
E1002G |
probably damaging |
Het |
| Pik3c2a |
A |
T |
7: 115,972,126 (GRCm39) |
L768* |
probably null |
Het |
| Plxna4 |
A |
G |
6: 32,494,551 (GRCm39) |
S22P |
possibly damaging |
Het |
| Plxnb3 |
T |
A |
X: 72,815,357 (GRCm39) |
Y1845* |
probably null |
Het |
| Pramel11 |
T |
C |
4: 143,623,482 (GRCm39) |
M231V |
probably damaging |
Het |
| Prl7a2 |
T |
A |
13: 27,844,870 (GRCm39) |
Y172F |
probably damaging |
Het |
| Pum1 |
A |
G |
4: 130,501,745 (GRCm39) |
T845A |
probably benign |
Het |
| Rad21l |
T |
C |
2: 151,509,927 (GRCm39) |
H58R |
probably damaging |
Het |
| Rgma |
A |
C |
7: 73,059,379 (GRCm39) |
D161A |
probably damaging |
Het |
| Scai |
T |
C |
2: 39,013,025 (GRCm39) |
Y135C |
probably damaging |
Het |
| Scn2a |
T |
A |
2: 65,582,417 (GRCm39) |
H1588Q |
probably benign |
Het |
| Sdha |
A |
T |
13: 74,472,087 (GRCm39) |
|
probably null |
Het |
| Slc12a3 |
A |
G |
8: 95,072,456 (GRCm39) |
D658G |
probably damaging |
Het |
| Slc5a3 |
A |
G |
16: 91,874,128 (GRCm39) |
S62G |
probably damaging |
Het |
| Spata13 |
GTTAGGCT |
GT |
14: 60,998,320 (GRCm39) |
|
probably benign |
Het |
| Sulf1 |
A |
G |
1: 12,910,627 (GRCm39) |
I649V |
probably damaging |
Het |
| Thbs1 |
C |
T |
2: 117,954,018 (GRCm39) |
Q1090* |
probably null |
Het |
| Tjp2 |
C |
A |
19: 24,099,687 (GRCm39) |
R400L |
probably benign |
Het |
| Tle4 |
A |
T |
19: 14,427,113 (GRCm39) |
Y769* |
probably null |
Het |
| Trmt5 |
A |
T |
12: 73,331,444 (GRCm39) |
|
probably null |
Het |
| Troap |
T |
C |
15: 98,980,344 (GRCm39) |
L508P |
probably benign |
Het |
| Ubac2 |
T |
A |
14: 122,145,691 (GRCm39) |
Y116* |
probably null |
Het |
| Ugt2b36 |
T |
C |
5: 87,240,100 (GRCm39) |
E95G |
probably benign |
Het |
| Ush1c |
T |
C |
7: 45,878,905 (GRCm39) |
Y74C |
probably damaging |
Het |
| Usp36 |
T |
C |
11: 118,165,844 (GRCm39) |
T160A |
possibly damaging |
Het |
| Usp54 |
G |
T |
14: 20,627,273 (GRCm39) |
P462T |
probably damaging |
Het |
| Vmn1r55 |
A |
G |
7: 5,150,048 (GRCm39) |
V125A |
possibly damaging |
Het |
| Vps11 |
A |
G |
9: 44,269,613 (GRCm39) |
S213P |
probably damaging |
Het |
| Zfp668 |
C |
T |
7: 127,465,837 (GRCm39) |
G449D |
probably benign |
Het |
|
| Other mutations in Nup133 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00470:Nup133
|
APN |
8 |
124,665,822 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00507:Nup133
|
APN |
8 |
124,645,706 (GRCm39) |
nonsense |
probably null |
|
|
IGL00585:Nup133
|
APN |
8 |
124,636,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00676:Nup133
|
APN |
8 |
124,633,037 (GRCm39) |
intron |
probably benign |
|
|
IGL00966:Nup133
|
APN |
8 |
124,638,645 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01069:Nup133
|
APN |
8 |
124,657,721 (GRCm39) |
nonsense |
probably null |
|
|
IGL01553:Nup133
|
APN |
8 |
124,642,063 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL01669:Nup133
|
APN |
8 |
124,665,869 (GRCm39) |
nonsense |
probably null |
|
|
IGL01730:Nup133
|
APN |
8 |
124,664,972 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01996:Nup133
|
APN |
8 |
124,673,334 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02332:Nup133
|
APN |
8 |
124,634,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02552:Nup133
|
APN |
8 |
124,655,994 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02956:Nup133
|
APN |
8 |
124,675,822 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03009:Nup133
|
APN |
8 |
124,660,239 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL03036:Nup133
|
APN |
8 |
124,673,333 (GRCm39) |
missense |
probably benign |
0.11 |
|
Cadenza
|
UTSW |
8 |
124,638,627 (GRCm39) |
frame shift |
probably null |
|
|
Gangen
|
UTSW |
8 |
124,643,021 (GRCm39) |
critical splice donor site |
probably null |
|
|
hochzeit
|
UTSW |
8 |
124,656,082 (GRCm39) |
missense |
probably benign |
0.00 |
|
low_road
|
UTSW |
8 |
124,631,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Pathway
|
UTSW |
8 |
124,644,185 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Slant
|
UTSW |
8 |
124,643,020 (GRCm39) |
splice site |
probably null |
|
|
R0010:Nup133
|
UTSW |
8 |
124,631,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0010:Nup133
|
UTSW |
8 |
124,631,318 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0139:Nup133
|
UTSW |
8 |
124,656,082 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0344:Nup133
|
UTSW |
8 |
124,644,185 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0730:Nup133
|
UTSW |
8 |
124,675,747 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1301:Nup133
|
UTSW |
8 |
124,644,156 (GRCm39) |
intron |
probably benign |
|
|
R1453:Nup133
|
UTSW |
8 |
124,642,114 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1570:Nup133
|
UTSW |
8 |
124,675,915 (GRCm39) |
start codon destroyed |
possibly damaging |
0.82 |
|
R1607:Nup133
|
UTSW |
8 |
124,675,774 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1773:Nup133
|
UTSW |
8 |
124,657,722 (GRCm39) |
nonsense |
probably null |
|
|
R1992:Nup133
|
UTSW |
8 |
124,632,960 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2062:Nup133
|
UTSW |
8 |
124,641,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2065:Nup133
|
UTSW |
8 |
124,641,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2066:Nup133
|
UTSW |
8 |
124,641,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4397:Nup133
|
UTSW |
8 |
124,671,040 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4683:Nup133
|
UTSW |
8 |
124,657,721 (GRCm39) |
nonsense |
probably null |
|
|
R4771:Nup133
|
UTSW |
8 |
124,656,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4910:Nup133
|
UTSW |
8 |
124,653,870 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4911:Nup133
|
UTSW |
8 |
124,653,870 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4968:Nup133
|
UTSW |
8 |
124,641,935 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5411:Nup133
|
UTSW |
8 |
124,653,945 (GRCm39) |
missense |
probably benign |
|
|
R5470:Nup133
|
UTSW |
8 |
124,657,705 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5664:Nup133
|
UTSW |
8 |
124,633,020 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5907:Nup133
|
UTSW |
8 |
124,643,038 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6003:Nup133
|
UTSW |
8 |
124,665,031 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6059:Nup133
|
UTSW |
8 |
124,641,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6219:Nup133
|
UTSW |
8 |
124,663,612 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6292:Nup133
|
UTSW |
8 |
124,644,176 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6672:Nup133
|
UTSW |
8 |
124,643,020 (GRCm39) |
splice site |
probably null |
|
|
R6737:Nup133
|
UTSW |
8 |
124,633,030 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6763:Nup133
|
UTSW |
8 |
124,671,017 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6870:Nup133
|
UTSW |
8 |
124,626,246 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6975:Nup133
|
UTSW |
8 |
124,642,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7101:Nup133
|
UTSW |
8 |
124,632,966 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7114:Nup133
|
UTSW |
8 |
124,642,112 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7271:Nup133
|
UTSW |
8 |
124,649,153 (GRCm39) |
missense |
probably benign |
0.34 |
|
R7501:Nup133
|
UTSW |
8 |
124,649,153 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8054:Nup133
|
UTSW |
8 |
124,675,956 (GRCm39) |
intron |
probably benign |
|
|
R8397:Nup133
|
UTSW |
8 |
124,649,156 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8703:Nup133
|
UTSW |
8 |
124,643,021 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8811:Nup133
|
UTSW |
8 |
124,638,627 (GRCm39) |
frame shift |
probably null |
|
|
R8813:Nup133
|
UTSW |
8 |
124,638,627 (GRCm39) |
frame shift |
probably null |
|
|
R8952:Nup133
|
UTSW |
8 |
124,634,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9116:Nup133
|
UTSW |
8 |
124,660,155 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9340:Nup133
|
UTSW |
8 |
124,664,881 (GRCm39) |
missense |
probably benign |
0.38 |
|
X0023:Nup133
|
UTSW |
8 |
124,636,727 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCCCAACAAGACAATGTAATGTG -3'
(R):5'- TGAGTAGTGGGAGTCTCCTC -3'
Sequencing Primer
(F):5'- ATGTGAAAATCTGTCATGTTCCCC -3'
(R):5'- TCTGGGGAGCCAGCAATG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation