Incidental Mutation 'R4521:Nup93'
ID |
334226 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nup93
|
Ensembl Gene |
ENSMUSG00000032939 |
Gene Name |
nucleoporin 93 |
Synonyms |
2410008G02Rik |
MMRRC Submission |
041764-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.919)
|
Stock # |
R4521 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
94941192-95043855 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 95041264 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 801
(Y801H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148700
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079961]
[ENSMUST00000109547]
[ENSMUST00000211822]
[ENSMUST00000212824]
|
AlphaFold |
Q8BJ71 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000079961
AA Change: Y801H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000078878 Gene: ENSMUSG00000032939 AA Change: Y801H
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
low complexity region
|
42 |
52 |
N/A |
INTRINSIC |
Pfam:Nic96
|
214 |
804 |
6.9e-198 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109547
AA Change: Y801H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105174 Gene: ENSMUSG00000032939 AA Change: Y801H
Domain | Start | End | E-Value | Type |
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
low complexity region
|
42 |
52 |
N/A |
INTRINSIC |
Pfam:Nic96
|
202 |
804 |
8.2e-202 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000211822
AA Change: Y678H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212824
AA Change: Y801H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.5746 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
100% (49/49) |
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. This gene encodes a nucleoporin protein that localizes both to the basket of the pore and to the nuclear entry of the central gated channel of the pore. The encoded protein is a target of caspase cysteine proteases that play a central role in programmed cell death by apoptosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ascc3 |
A |
G |
10: 50,536,766 (GRCm39) |
N700D |
probably benign |
Het |
Bora |
G |
T |
14: 99,305,984 (GRCm39) |
S451I |
probably damaging |
Het |
Cadm3 |
A |
T |
1: 173,172,630 (GRCm39) |
|
probably null |
Het |
Car14 |
A |
G |
3: 95,811,690 (GRCm39) |
|
probably benign |
Het |
Ccdc88c |
G |
T |
12: 100,879,591 (GRCm39) |
S1843R |
possibly damaging |
Het |
Cdc20b |
A |
G |
13: 113,217,725 (GRCm39) |
I381M |
probably damaging |
Het |
Col12a1 |
C |
T |
9: 79,540,639 (GRCm39) |
V2449I |
probably benign |
Het |
Crb2 |
T |
C |
2: 37,685,349 (GRCm39) |
|
probably benign |
Het |
Dcaf6 |
A |
T |
1: 165,218,059 (GRCm39) |
D347E |
probably damaging |
Het |
Dlgap2 |
G |
A |
8: 14,777,871 (GRCm39) |
R372H |
probably damaging |
Het |
Fat3 |
T |
C |
9: 15,834,238 (GRCm39) |
N4118S |
probably null |
Het |
Fbxo41 |
A |
G |
6: 85,461,024 (GRCm39) |
I228T |
probably damaging |
Het |
Fpr2 |
A |
C |
17: 18,113,509 (GRCm39) |
R168S |
probably benign |
Het |
Ghr |
A |
G |
15: 3,355,440 (GRCm39) |
I281T |
probably damaging |
Het |
Glmp |
C |
A |
3: 88,235,346 (GRCm39) |
N259K |
possibly damaging |
Het |
Grhl3 |
T |
C |
4: 135,273,561 (GRCm39) |
K564E |
probably damaging |
Het |
Helz2 |
T |
C |
2: 180,870,626 (GRCm39) |
H2875R |
probably benign |
Het |
Lcp1 |
A |
G |
14: 75,452,608 (GRCm39) |
D438G |
possibly damaging |
Het |
Lrfn2 |
T |
A |
17: 49,376,922 (GRCm39) |
M1K |
probably null |
Het |
Lrp6 |
A |
G |
6: 134,462,825 (GRCm39) |
C612R |
probably damaging |
Het |
Map3k13 |
T |
C |
16: 21,724,525 (GRCm39) |
V341A |
possibly damaging |
Het |
Megf8 |
T |
A |
7: 25,042,126 (GRCm39) |
C1315S |
probably benign |
Het |
Mrgpra9 |
A |
T |
7: 46,884,938 (GRCm39) |
L243H |
probably damaging |
Het |
Mrgprx1 |
T |
C |
7: 47,671,447 (GRCm39) |
D100G |
probably benign |
Het |
Nop2 |
G |
T |
6: 125,110,515 (GRCm39) |
R47L |
probably damaging |
Het |
Or51b6b |
C |
T |
7: 103,309,539 (GRCm39) |
R306H |
probably benign |
Het |
Or6c69b |
T |
A |
10: 129,627,050 (GRCm39) |
N136I |
possibly damaging |
Het |
Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
Plce1 |
T |
C |
19: 38,512,763 (GRCm39) |
S21P |
possibly damaging |
Het |
Plpp2 |
A |
G |
10: 79,366,459 (GRCm39) |
Y118H |
probably damaging |
Het |
Ppwd1 |
A |
G |
13: 104,346,167 (GRCm39) |
V496A |
probably benign |
Het |
Rbm20 |
A |
G |
19: 53,805,633 (GRCm39) |
N466S |
probably benign |
Het |
Rpl10l |
T |
C |
12: 66,330,512 (GRCm39) |
D207G |
probably benign |
Het |
Skida1 |
T |
C |
2: 18,050,683 (GRCm39) |
|
probably benign |
Het |
Stk17b |
A |
G |
1: 53,803,197 (GRCm39) |
Y73H |
probably damaging |
Het |
Tapbpl |
A |
G |
6: 125,205,085 (GRCm39) |
I287T |
probably damaging |
Het |
Tmem38a |
C |
T |
8: 73,326,005 (GRCm39) |
P20S |
possibly damaging |
Het |
Topbp1 |
T |
C |
9: 103,211,401 (GRCm39) |
|
probably benign |
Het |
Tsen54 |
G |
A |
11: 115,707,932 (GRCm39) |
|
probably null |
Het |
Ttn |
G |
A |
2: 76,555,560 (GRCm39) |
R28736* |
probably null |
Het |
Wdr36 |
G |
A |
18: 32,974,201 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Nup93 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00783:Nup93
|
APN |
8 |
95,035,651 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01652:Nup93
|
APN |
8 |
95,023,187 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL02003:Nup93
|
APN |
8 |
95,028,737 (GRCm39) |
nonsense |
probably null |
|
IGL02169:Nup93
|
APN |
8 |
95,028,757 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02212:Nup93
|
APN |
8 |
95,038,290 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02551:Nup93
|
APN |
8 |
94,954,461 (GRCm39) |
nonsense |
probably null |
|
IGL02568:Nup93
|
APN |
8 |
95,036,263 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03094:Nup93
|
APN |
8 |
95,023,130 (GRCm39) |
missense |
probably benign |
|
IGL03248:Nup93
|
APN |
8 |
95,032,716 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03273:Nup93
|
APN |
8 |
95,032,905 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03401:Nup93
|
APN |
8 |
95,036,339 (GRCm39) |
splice site |
probably null |
|
PIT4585001:Nup93
|
UTSW |
8 |
94,970,355 (GRCm39) |
missense |
probably benign |
0.25 |
R0409:Nup93
|
UTSW |
8 |
95,030,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R0748:Nup93
|
UTSW |
8 |
95,034,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R0891:Nup93
|
UTSW |
8 |
95,007,891 (GRCm39) |
splice site |
probably benign |
|
R1667:Nup93
|
UTSW |
8 |
95,019,315 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1696:Nup93
|
UTSW |
8 |
95,023,183 (GRCm39) |
missense |
probably benign |
0.29 |
R1862:Nup93
|
UTSW |
8 |
95,032,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R2069:Nup93
|
UTSW |
8 |
94,970,367 (GRCm39) |
missense |
probably damaging |
1.00 |
R2143:Nup93
|
UTSW |
8 |
95,023,108 (GRCm39) |
nonsense |
probably null |
|
R2187:Nup93
|
UTSW |
8 |
95,027,478 (GRCm39) |
missense |
probably damaging |
1.00 |
R2228:Nup93
|
UTSW |
8 |
95,030,819 (GRCm39) |
missense |
probably benign |
0.27 |
R2229:Nup93
|
UTSW |
8 |
95,030,819 (GRCm39) |
missense |
probably benign |
0.27 |
R2254:Nup93
|
UTSW |
8 |
94,954,485 (GRCm39) |
critical splice donor site |
probably null |
|
R2884:Nup93
|
UTSW |
8 |
95,030,266 (GRCm39) |
missense |
probably damaging |
1.00 |
R4563:Nup93
|
UTSW |
8 |
95,034,520 (GRCm39) |
missense |
probably damaging |
1.00 |
R4900:Nup93
|
UTSW |
8 |
95,013,231 (GRCm39) |
missense |
probably benign |
0.25 |
R5570:Nup93
|
UTSW |
8 |
95,041,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R6226:Nup93
|
UTSW |
8 |
95,013,165 (GRCm39) |
missense |
probably damaging |
1.00 |
R6489:Nup93
|
UTSW |
8 |
95,028,716 (GRCm39) |
missense |
probably benign |
0.10 |
R6658:Nup93
|
UTSW |
8 |
95,030,807 (GRCm39) |
missense |
probably benign |
0.02 |
R6817:Nup93
|
UTSW |
8 |
95,041,310 (GRCm39) |
critical splice donor site |
probably null |
|
R6895:Nup93
|
UTSW |
8 |
94,970,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R6955:Nup93
|
UTSW |
8 |
95,036,301 (GRCm39) |
missense |
probably damaging |
0.96 |
R7476:Nup93
|
UTSW |
8 |
95,030,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R7643:Nup93
|
UTSW |
8 |
95,013,247 (GRCm39) |
critical splice donor site |
probably null |
|
R7994:Nup93
|
UTSW |
8 |
95,032,930 (GRCm39) |
missense |
probably benign |
0.15 |
R8461:Nup93
|
UTSW |
8 |
95,007,963 (GRCm39) |
critical splice donor site |
probably null |
|
R9177:Nup93
|
UTSW |
8 |
94,954,371 (GRCm39) |
missense |
probably benign |
0.25 |
R9264:Nup93
|
UTSW |
8 |
95,019,348 (GRCm39) |
missense |
probably benign |
0.01 |
R9532:Nup93
|
UTSW |
8 |
95,041,249 (GRCm39) |
missense |
probably damaging |
1.00 |
R9567:Nup93
|
UTSW |
8 |
95,035,604 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9629:Nup93
|
UTSW |
8 |
95,033,267 (GRCm39) |
missense |
probably damaging |
0.99 |
R9721:Nup93
|
UTSW |
8 |
95,030,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGACACCCTGTGGAATGGG -3'
(R):5'- ACTGTGGACAACATTTCCCAAG -3'
Sequencing Primer
(F):5'- CCTGTGGAATGGGGCTCC -3'
(R):5'- CAGCGCTTAATTCATGAGG -3'
|
Posted On |
2015-08-18 |