Incidental Mutation 'R8461:Nup93'
| ID |
655280 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup93
|
| Ensembl Gene |
ENSMUSG00000032939 |
| Gene Name |
nucleoporin 93 |
| Synonyms |
2410008G02Rik |
| MMRRC Submission |
067837-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.919)
|
| Stock # |
R8461 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not 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 95007963 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079961]
[ENSMUST00000109547]
[ENSMUST00000211822]
[ENSMUST00000212167]
[ENSMUST00000212824]
|
| AlphaFold |
Q8BJ71 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000079961
|
| SMART Domains |
Protein: ENSMUSP00000078878
Gene: ENSMUSG00000032939
| 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
|
| SMART Domains |
Protein: ENSMUSP00000105174
Gene: ENSMUSG00000032939
| 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 benign
Transcript: ENSMUST00000211822
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212167
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212824
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
G |
T |
17: 48,400,849 (GRCm39) |
E45* |
probably null |
Het |
| 4921539E11Rik |
T |
C |
4: 103,112,712 (GRCm39) |
D132G |
probably benign |
Het |
| Abca16 |
T |
C |
7: 120,035,918 (GRCm39) |
F334L |
possibly damaging |
Het |
| Ache |
T |
C |
5: 137,288,582 (GRCm39) |
F96S |
probably damaging |
Het |
| Actg1 |
T |
C |
11: 120,239,010 (GRCm39) |
T27A |
unknown |
Het |
| Ankrd27 |
T |
C |
7: 35,326,911 (GRCm39) |
L752P |
probably damaging |
Het |
| Atp1a1 |
T |
A |
3: 101,496,405 (GRCm39) |
T417S |
probably benign |
Het |
| Atp6v0a1 |
T |
G |
11: 100,935,400 (GRCm39) |
L653R |
possibly damaging |
Het |
| Aurkb |
T |
C |
11: 68,941,727 (GRCm39) |
V293A |
probably damaging |
Het |
| C2cd5 |
A |
T |
6: 142,980,802 (GRCm39) |
D654E |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,001,440 (GRCm39) |
V297A |
possibly damaging |
Het |
| Catsperg2 |
T |
C |
7: 29,404,744 (GRCm39) |
D773G |
possibly damaging |
Het |
| Ccdc187 |
A |
G |
2: 26,183,814 (GRCm39) |
L62P |
probably damaging |
Het |
| Cdh2 |
A |
G |
18: 16,783,522 (GRCm39) |
V69A |
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 103,998,280 (GRCm39) |
V1156A |
possibly damaging |
Het |
| Defb37 |
G |
A |
8: 19,036,386 (GRCm39) |
H45Y |
unknown |
Het |
| Dgke |
T |
C |
11: 88,939,819 (GRCm39) |
M367V |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 31,027,915 (GRCm39) |
K640R |
probably benign |
Het |
| Gm5478 |
A |
T |
15: 101,554,652 (GRCm39) |
L148Q |
probably damaging |
Het |
| Hhla1 |
A |
T |
15: 65,795,723 (GRCm39) |
S494R |
probably benign |
Het |
| Kcne4 |
G |
A |
1: 78,795,433 (GRCm39) |
S27N |
probably benign |
Het |
| Klhdc7b |
A |
T |
15: 89,271,824 (GRCm39) |
H244L |
probably damaging |
Het |
| Lrrc40 |
T |
C |
3: 157,764,371 (GRCm39) |
S429P |
possibly damaging |
Het |
| Map3k21 |
A |
T |
8: 126,671,361 (GRCm39) |
D883V |
probably benign |
Het |
| Med4 |
T |
C |
14: 73,755,468 (GRCm39) |
S259P |
unknown |
Het |
| Mrm3 |
T |
C |
11: 76,135,158 (GRCm39) |
I123T |
probably damaging |
Het |
| Mrpl1 |
T |
A |
5: 96,361,646 (GRCm39) |
V11D |
probably damaging |
Het |
| Myl1 |
G |
A |
1: 66,983,994 (GRCm39) |
P24L |
unknown |
Het |
| Necap2 |
T |
C |
4: 140,797,531 (GRCm39) |
K168R |
probably damaging |
Het |
| Nnt |
A |
G |
13: 119,505,038 (GRCm39) |
S559P |
unknown |
Het |
| Nox4 |
T |
C |
7: 86,966,479 (GRCm39) |
F197L |
probably damaging |
Het |
| Nxph2 |
T |
C |
2: 23,211,529 (GRCm39) |
V10A |
unknown |
Het |
| Or1e16 |
T |
A |
11: 73,285,982 (GRCm39) |
I289F |
probably damaging |
Het |
| Or8c11 |
T |
A |
9: 38,289,777 (GRCm39) |
V194D |
probably damaging |
Het |
| Or8k38 |
G |
A |
2: 86,487,890 (GRCm39) |
T304I |
probably benign |
Het |
| P2ry2 |
G |
T |
7: 100,647,895 (GRCm39) |
R137S |
possibly damaging |
Het |
| Plxnb3 |
T |
C |
X: 72,803,103 (GRCm39) |
Y324H |
probably damaging |
Het |
| Pmpca |
G |
C |
2: 26,285,046 (GRCm39) |
E424Q |
possibly damaging |
Het |
| Ppme1 |
T |
C |
7: 100,021,012 (GRCm39) |
S7G |
probably benign |
Het |
| Rabep1 |
T |
A |
11: 70,775,681 (GRCm39) |
M85K |
possibly damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,312,216 (GRCm39) |
Y979H |
probably damaging |
Het |
| Rapgef5 |
T |
C |
12: 117,677,844 (GRCm39) |
S360P |
probably benign |
Het |
| Rbm33 |
T |
A |
5: 28,592,970 (GRCm39) |
H623Q |
probably damaging |
Het |
| Rev1 |
G |
T |
1: 38,122,868 (GRCm39) |
T450K |
possibly damaging |
Het |
| Sec23ip |
T |
A |
7: 128,373,926 (GRCm39) |
L716Q |
probably benign |
Het |
| Sp2 |
T |
C |
11: 96,846,739 (GRCm39) |
T535A |
possibly damaging |
Het |
| Syne1 |
A |
G |
10: 5,011,463 (GRCm39) |
S61P |
probably benign |
Het |
| Tcf4 |
T |
C |
18: 69,598,501 (GRCm39) |
V72A |
probably benign |
Het |
| Tmem131 |
G |
A |
1: 36,833,902 (GRCm39) |
S1726F |
probably damaging |
Het |
| Trim13 |
T |
C |
14: 61,842,921 (GRCm39) |
Y313H |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,611,437 (GRCm39) |
V17365A |
possibly damaging |
Het |
| Uap1l1 |
G |
A |
2: 25,255,422 (GRCm39) |
A69V |
probably benign |
Het |
| Upp2 |
A |
G |
2: 58,670,068 (GRCm39) |
D258G |
probably benign |
Het |
| Vmn1r44 |
A |
T |
6: 89,870,701 (GRCm39) |
H149L |
possibly damaging |
Het |
| Zbtb49 |
T |
C |
5: 38,358,453 (GRCm39) |
D600G |
probably benign |
Het |
| Zfp869 |
G |
T |
8: 70,160,305 (GRCm39) |
H89Q |
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 |
|
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'- AATATCCCCATTTGGCCTGC -3'
(R):5'- TACAATGGCTGCTCTGGGTG -3'
Sequencing Primer
(F):5'- TACTGGAAATGGCCTTGAGCTCC -3'
(R):5'- AGCATGGTGATATAGCCTTGCTACC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation