Incidental Mutation 'R6817:Nup93'
| ID |
537384 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup93
|
| Ensembl Gene |
ENSMUSG00000032939 |
| Gene Name |
nucleoporin 93 |
| Synonyms |
2410008G02Rik |
| MMRRC Submission |
044929-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.930)
|
| Stock # |
R6817 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
94941192-95043855 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 95041310 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148458
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079961]
[ENSMUST00000109547]
[ENSMUST00000211822]
[ENSMUST00000212824]
|
| AlphaFold |
Q8BJ71 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079961
AA Change: V816A
PolyPhen 2
Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000078878
Gene: ENSMUSG00000032939
AA Change: V816A
| 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 benign
Transcript: ENSMUST00000109547
AA Change: V816A
PolyPhen 2
Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105174
Gene: ENSMUSG00000032939
AA Change: V816A
| 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 null
Transcript: ENSMUST00000211822
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212824
AA Change: V816A
PolyPhen 2
Score 0.416 (Sensitivity: 0.89; Specificity: 0.90)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
96% (47/49) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apeh |
G |
A |
9: 107,969,878 (GRCm39) |
H186Y |
probably damaging |
Het |
| Arhgap21 |
A |
C |
2: 20,885,107 (GRCm39) |
L690R |
probably benign |
Het |
| Asxl3 |
A |
G |
18: 22,656,637 (GRCm39) |
N1549S |
probably benign |
Het |
| Cast |
T |
C |
13: 74,847,277 (GRCm39) |
T670A |
possibly damaging |
Het |
| Cd109 |
A |
G |
9: 78,622,237 (GRCm39) |
D1409G |
probably benign |
Het |
| Cemip |
A |
G |
7: 83,637,200 (GRCm39) |
F311S |
probably damaging |
Het |
| Cfap43 |
T |
A |
19: 47,744,524 (GRCm39) |
I1210F |
possibly damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
| Cops5 |
G |
A |
1: 10,100,829 (GRCm39) |
L256F |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,402,027 (GRCm39) |
|
probably null |
Het |
| Dab1 |
A |
G |
4: 104,536,743 (GRCm39) |
K178E |
probably damaging |
Het |
| Ddc |
A |
G |
11: 11,774,854 (GRCm39) |
Y346H |
probably damaging |
Het |
| Dlg2 |
T |
G |
7: 91,614,872 (GRCm39) |
D225E |
probably benign |
Het |
| Dsg1b |
A |
T |
18: 20,527,462 (GRCm39) |
I198F |
probably damaging |
Het |
| Ect2l |
T |
C |
10: 18,049,807 (GRCm39) |
H155R |
probably benign |
Het |
| Epha2 |
A |
G |
4: 141,036,305 (GRCm39) |
H247R |
probably damaging |
Het |
| Esrp1 |
A |
G |
4: 11,357,552 (GRCm39) |
V355A |
probably damaging |
Het |
| Fam78b |
A |
G |
1: 166,906,419 (GRCm39) |
M193V |
possibly damaging |
Het |
| Gdpd4 |
A |
G |
7: 97,607,037 (GRCm39) |
T4A |
probably benign |
Het |
| Gm17175 |
T |
C |
14: 51,810,478 (GRCm39) |
N50D |
possibly damaging |
Het |
| Kcnt2 |
A |
G |
1: 140,173,931 (GRCm39) |
|
probably benign |
Het |
| Lpo |
T |
C |
11: 87,700,067 (GRCm39) |
N525D |
probably benign |
Het |
| Lrrc41 |
G |
A |
4: 115,946,502 (GRCm39) |
E406K |
possibly damaging |
Het |
| Lrrc59 |
G |
C |
11: 94,520,891 (GRCm39) |
D21H |
probably damaging |
Het |
| Mgat4a |
G |
A |
1: 37,488,204 (GRCm39) |
R472* |
probably null |
Het |
| Mroh7 |
C |
T |
4: 106,571,312 (GRCm39) |
A14T |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,416,650 (GRCm39) |
S3199P |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,237,326 (GRCm39) |
Y270F |
probably damaging |
Het |
| Myo18b |
T |
A |
5: 112,978,104 (GRCm39) |
T1273S |
probably benign |
Het |
| Nos2 |
A |
T |
11: 78,836,092 (GRCm39) |
E385V |
possibly damaging |
Het |
| Nsl1 |
T |
G |
1: 190,795,471 (GRCm39) |
|
probably null |
Het |
| Or5d45 |
A |
T |
2: 88,153,107 (GRCm39) |
M314K |
probably benign |
Het |
| Pcna-ps2 |
T |
G |
19: 9,260,861 (GRCm39) |
M40R |
probably damaging |
Het |
| Pik3r5 |
A |
G |
11: 68,377,407 (GRCm39) |
E148G |
probably damaging |
Het |
| Pirt |
A |
G |
11: 66,816,737 (GRCm39) |
E16G |
probably damaging |
Het |
| Pkp4 |
T |
C |
2: 59,148,944 (GRCm39) |
Y566H |
probably damaging |
Het |
| Psg17 |
A |
C |
7: 18,548,565 (GRCm39) |
V402G |
probably damaging |
Het |
| Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,119,582 (GRCm39) |
|
probably benign |
Het |
| Rassf7 |
A |
G |
7: 140,797,360 (GRCm39) |
E191G |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,353,111 (GRCm39) |
|
probably null |
Het |
| Slc34a2 |
C |
T |
5: 53,221,370 (GRCm39) |
T272I |
probably damaging |
Het |
| Sos2 |
T |
C |
12: 69,664,935 (GRCm39) |
E332G |
probably benign |
Het |
| Spdye4c |
T |
C |
2: 128,438,430 (GRCm39) |
Y263H |
probably damaging |
Het |
| Tmprss11f |
C |
T |
5: 86,704,793 (GRCm39) |
V42I |
probably benign |
Het |
| Trpv5 |
T |
A |
6: 41,634,941 (GRCm39) |
N463Y |
possibly damaging |
Het |
| Ush2a |
A |
T |
1: 188,595,061 (GRCm39) |
Q3831L |
probably benign |
Het |
| Wdr41 |
C |
A |
13: 95,133,812 (GRCm39) |
|
probably null |
Het |
| Zfand1 |
A |
G |
3: 10,405,884 (GRCm39) |
C246R |
probably benign |
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 |
|
R4521:Nup93
|
UTSW |
8 |
95,041,264 (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 |
|
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'- CCTGACACTGAGTGCACAAC -3'
(R):5'- CAACTGTGGACAACATTTCCCAAG -3'
Sequencing Primer
(F):5'- CTGACACTGAGTGCACAACATAGAAG -3'
(R):5'- GCCCACGTGCCTAATATAC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation