Incidental Mutation 'R9532:Nup93'
| ID |
719526 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup93
|
| Ensembl Gene |
ENSMUSG00000032939 |
| Gene Name |
nucleoporin 93 |
| Synonyms |
2410008G02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.930)
|
| Stock # |
R9532 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
94941192-95043855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 95041249 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 796
(A796T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079961]
[ENSMUST00000109547]
[ENSMUST00000211822]
[ENSMUST00000212824]
|
| AlphaFold |
Q8BJ71 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079961
AA Change: A796T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078878
Gene: ENSMUSG00000032939
AA Change: A796T
| 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: A796T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105174
Gene: ENSMUSG00000032939
AA Change: A796T
| 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: A673T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212824
AA Change: A796T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (50/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003H04Rik |
T |
C |
3: 124,350,397 (GRCm39) |
N165S |
unknown |
Het |
| 9530002B09Rik |
C |
A |
4: 122,596,133 (GRCm39) |
N121K |
unknown |
Het |
| Abca1 |
A |
T |
4: 53,109,284 (GRCm39) |
N141K |
probably benign |
Het |
| Amer1 |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
ATTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
X: 94,470,889 (GRCm39) |
|
probably benign |
Het |
| Bco2 |
T |
C |
9: 50,457,371 (GRCm39) |
N57S |
probably benign |
Het |
| Bnip3l |
G |
A |
14: 67,246,214 (GRCm39) |
P7L |
possibly damaging |
Het |
| Cacna1a |
T |
A |
8: 85,338,246 (GRCm39) |
W1709R |
probably damaging |
Het |
| Cep95 |
A |
G |
11: 106,687,042 (GRCm39) |
E117G |
probably damaging |
Het |
| D17H6S53E |
T |
A |
17: 35,346,145 (GRCm39) |
S19T |
possibly damaging |
Het |
| Dab2 |
G |
T |
15: 6,451,762 (GRCm39) |
R126L |
probably damaging |
Het |
| Diaph3 |
T |
C |
14: 86,893,916 (GRCm39) |
D31G |
probably damaging |
Het |
| Espl1 |
T |
A |
15: 102,228,260 (GRCm39) |
L1678* |
probably null |
Het |
| Fam171b |
T |
C |
2: 83,710,212 (GRCm39) |
V628A |
probably damaging |
Het |
| Fgf8 |
A |
T |
19: 45,725,679 (GRCm39) |
V186E |
probably damaging |
Het |
| Fmnl2 |
A |
T |
2: 53,006,941 (GRCm39) |
Y751F |
unknown |
Het |
| Frmpd1 |
A |
T |
4: 45,278,886 (GRCm39) |
E537V |
|
Het |
| Garin3 |
A |
G |
11: 46,297,673 (GRCm39) |
T326A |
|
Het |
| Grin1 |
C |
T |
2: 25,187,909 (GRCm39) |
G529D |
probably damaging |
Het |
| Heatr1 |
C |
T |
13: 12,429,306 (GRCm39) |
T872I |
possibly damaging |
Het |
| Hectd4 |
T |
C |
5: 121,502,616 (GRCm39) |
I4240T |
probably benign |
Het |
| Hpd |
C |
T |
5: 123,312,532 (GRCm39) |
R279H |
possibly damaging |
Het |
| Hyls1 |
T |
A |
9: 35,473,398 (GRCm39) |
Q6L |
probably benign |
Het |
| Igfn1 |
A |
T |
1: 135,897,229 (GRCm39) |
D1112E |
possibly damaging |
Het |
| Ighv1-82 |
T |
G |
12: 115,916,158 (GRCm39) |
R117S |
probably damaging |
Het |
| Iqch |
G |
A |
9: 63,389,935 (GRCm39) |
A748V |
|
Het |
| Kcnd2 |
G |
T |
6: 21,727,180 (GRCm39) |
A578S |
probably benign |
Het |
| Klc2 |
A |
G |
19: 5,161,565 (GRCm39) |
V315A |
possibly damaging |
Het |
| Klhl20 |
A |
T |
1: 160,937,329 (GRCm39) |
D15E |
probably benign |
Het |
| Lamb2 |
G |
T |
9: 108,365,830 (GRCm39) |
G1445W |
probably damaging |
Het |
| Lhx4 |
T |
A |
1: 155,586,024 (GRCm39) |
I96F |
probably damaging |
Het |
| Lyzl6 |
T |
C |
11: 103,522,168 (GRCm39) |
T143A |
probably benign |
Het |
| Nutm2 |
T |
C |
13: 50,628,475 (GRCm39) |
V513A |
probably benign |
Het |
| Or51s1 |
A |
G |
7: 102,558,746 (GRCm39) |
V100A |
probably benign |
Het |
| Or52e4 |
A |
T |
7: 104,706,275 (GRCm39) |
H274L |
probably damaging |
Het |
| Pcdh8 |
A |
G |
14: 80,008,206 (GRCm39) |
V119A |
possibly damaging |
Het |
| Pkmyt1 |
T |
C |
17: 23,954,691 (GRCm39) |
I427T |
probably benign |
Het |
| Polr1g |
A |
T |
7: 19,091,817 (GRCm39) |
S97T |
possibly damaging |
Het |
| Polr3c |
T |
C |
3: 96,629,866 (GRCm39) |
D222G |
probably null |
Het |
| Prickle2 |
A |
T |
6: 92,683,096 (GRCm39) |
S11T |
probably benign |
Het |
| Prpf8 |
G |
A |
11: 75,385,608 (GRCm39) |
A930T |
probably benign |
Het |
| Prss40 |
G |
T |
1: 34,597,106 (GRCm39) |
H147Q |
probably damaging |
Het |
| Prune2 |
A |
T |
19: 17,099,794 (GRCm39) |
D1766V |
probably benign |
Het |
| Qrich1 |
C |
T |
9: 108,411,519 (GRCm39) |
T348M |
probably benign |
Het |
| Slc20a1 |
T |
C |
2: 129,041,933 (GRCm39) |
Y99H |
probably damaging |
Het |
| Slc6a15 |
T |
C |
10: 103,240,333 (GRCm39) |
V352A |
probably damaging |
Het |
| Ttll3 |
A |
G |
6: 113,385,970 (GRCm39) |
Q601R |
possibly damaging |
Het |
| Virma |
T |
C |
4: 11,507,078 (GRCm39) |
|
probably null |
Het |
| Washc4 |
A |
G |
10: 83,417,258 (GRCm39) |
|
probably benign |
Het |
| Zdhhc18 |
A |
T |
4: 133,342,541 (GRCm39) |
M191K |
possibly damaging |
Het |
| Zfp281 |
A |
G |
1: 136,554,894 (GRCm39) |
N624S |
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 |
|
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 |
|
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'- TCATGAGGACCTCCATCT -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation