Incidental Mutation 'R9721:Nup93'
| ID |
730797 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup93
|
| Ensembl Gene |
ENSMUSG00000032939 |
| Gene Name |
nucleoporin 93 |
| Synonyms |
2410008G02Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.919)
|
| Stock # |
R9721 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
94941192-95043855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95030313 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 391
(Y391H)
|
| 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: Y391H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000078878
Gene: ENSMUSG00000032939
AA Change: Y391H
| 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: Y391H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000105174
Gene: ENSMUSG00000032939
AA Change: Y391H
| 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: Y268H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212824
AA Change: Y391H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
T |
3: 124,212,932 (GRCm39) |
Y120N |
probably benign |
Het |
| AAdacl4fm3 |
A |
T |
4: 144,429,942 (GRCm39) |
V349D |
possibly damaging |
Het |
| Alox8 |
T |
A |
11: 69,087,911 (GRCm39) |
H131L |
probably benign |
Het |
| Atp13a1 |
A |
G |
8: 70,252,087 (GRCm39) |
E588G |
probably damaging |
Het |
| AU040320 |
G |
A |
4: 126,733,441 (GRCm39) |
V654M |
probably damaging |
Het |
| Bicra |
A |
G |
7: 15,713,101 (GRCm39) |
L982P |
probably damaging |
Het |
| Cdh11 |
A |
T |
8: 103,406,257 (GRCm39) |
V72E |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,958,501 (GRCm39) |
T869A |
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,254,893 (GRCm39) |
T27A |
unknown |
Het |
| Ddx19a |
A |
G |
8: 111,705,107 (GRCm39) |
F338S |
probably damaging |
Het |
| Dhrs7c |
T |
A |
11: 67,705,904 (GRCm39) |
V219E |
probably damaging |
Het |
| Dhx33 |
A |
G |
11: 70,892,424 (GRCm39) |
V115A |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,231,866 (GRCm39) |
D3153G |
probably benign |
Het |
| Ecpas |
A |
T |
4: 58,850,938 (GRCm39) |
S412T |
probably benign |
Het |
| Eif5b |
T |
C |
1: 38,076,740 (GRCm39) |
|
probably null |
Het |
| Ep300 |
A |
G |
15: 81,492,516 (GRCm39) |
N284S |
unknown |
Het |
| Fam83a |
A |
G |
15: 57,849,513 (GRCm39) |
N19S |
probably benign |
Het |
| Fgd5 |
A |
T |
6: 91,965,278 (GRCm39) |
T504S |
probably benign |
Het |
| Flt4 |
G |
A |
11: 49,535,260 (GRCm39) |
|
probably null |
Het |
| Ggta1 |
G |
T |
2: 35,303,418 (GRCm39) |
D91E |
probably benign |
Het |
| Gls |
A |
G |
1: 52,251,427 (GRCm39) |
V310A |
probably damaging |
Het |
| Gm5414 |
A |
T |
15: 101,536,582 (GRCm39) |
C14* |
probably null |
Het |
| Gm9887 |
C |
G |
12: 69,418,629 (GRCm39) |
A202P |
unknown |
Het |
| Ifi214 |
T |
C |
1: 173,355,479 (GRCm39) |
T110A |
possibly damaging |
Het |
| Il4i1 |
A |
G |
7: 44,489,113 (GRCm39) |
R293G |
probably benign |
Het |
| Itpr1 |
A |
T |
6: 108,383,063 (GRCm39) |
T1464S |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,123,400 (GRCm39) |
S225P |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,855,330 (GRCm39) |
I678N |
probably damaging |
Het |
| Klf11 |
T |
A |
12: 24,710,240 (GRCm39) |
D429E |
probably damaging |
Het |
| Kntc1 |
A |
G |
5: 123,939,948 (GRCm39) |
T1581A |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,343,338 (GRCm39) |
N45D |
possibly damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,924,623 (GRCm39) |
I1319V |
probably damaging |
Het |
| Ltbr |
G |
A |
6: 125,284,348 (GRCm39) |
R365W |
probably damaging |
Het |
| Malrd1 |
C |
T |
2: 15,701,638 (GRCm39) |
T751I |
unknown |
Het |
| Matcap1 |
A |
T |
8: 106,009,820 (GRCm39) |
D376E |
probably benign |
Het |
| Mgat5b |
T |
C |
11: 116,857,595 (GRCm39) |
L363P |
probably damaging |
Het |
| Mphosph9 |
A |
T |
5: 124,436,738 (GRCm39) |
S535R |
possibly damaging |
Het |
| Nckap5 |
C |
T |
1: 125,955,017 (GRCm39) |
D512N |
probably damaging |
Het |
| Ngef |
T |
A |
1: 87,406,857 (GRCm39) |
D637V |
probably damaging |
Het |
| Or10j7 |
C |
A |
1: 173,011,915 (GRCm39) |
V29F |
probably benign |
Het |
| Or4c110 |
T |
C |
2: 88,832,060 (GRCm39) |
T191A |
|
Het |
| Or5b3 |
A |
T |
19: 13,388,334 (GRCm39) |
T134S |
probably benign |
Het |
| Pcdhb4 |
C |
A |
18: 37,442,905 (GRCm39) |
D738E |
possibly damaging |
Het |
| Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
| Phactr3 |
G |
A |
2: 177,898,043 (GRCm39) |
E86K |
probably damaging |
Het |
| Psd |
C |
T |
19: 46,311,628 (GRCm39) |
D351N |
probably benign |
Het |
| Pzp |
A |
G |
6: 128,472,154 (GRCm39) |
|
probably null |
Het |
| Rerg |
T |
A |
6: 137,033,415 (GRCm39) |
K106* |
probably null |
Het |
| Samd9l |
T |
C |
6: 3,375,854 (GRCm39) |
E469G |
possibly damaging |
Het |
| Smok2b |
C |
A |
17: 13,453,865 (GRCm39) |
Y8* |
probably null |
Het |
| Spata31e3 |
T |
C |
13: 50,400,688 (GRCm39) |
Y546C |
possibly damaging |
Het |
| Spn |
A |
G |
7: 126,735,437 (GRCm39) |
S357P |
probably benign |
Het |
| Tek |
T |
G |
4: 94,692,539 (GRCm39) |
W216G |
possibly damaging |
Het |
| Trpm3 |
A |
T |
19: 22,866,762 (GRCm39) |
H531L |
probably benign |
Het |
| Trpm6 |
A |
G |
19: 18,807,336 (GRCm39) |
M1027V |
probably benign |
Het |
| Tsc2 |
G |
A |
17: 24,818,616 (GRCm39) |
R1408* |
probably null |
Het |
| Tut4 |
T |
A |
4: 108,412,778 (GRCm39) |
M1493K |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,101,869 (GRCm39) |
N155D |
probably benign |
Het |
| Vmn1r52 |
G |
A |
6: 90,156,008 (GRCm39) |
C104Y |
probably damaging |
Het |
| Xylt1 |
A |
T |
7: 117,148,255 (GRCm39) |
E273V |
probably damaging |
Het |
| Zc3h4 |
C |
A |
7: 16,168,770 (GRCm39) |
Q1035K |
unknown |
Het |
| Zfp14 |
A |
T |
7: 29,738,609 (GRCm39) |
S125R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTAGCAATTAGAAGTCAGGTG -3'
(R):5'- ACTGTCCCTGTCCTGAGTAC -3'
Sequencing Primer
(F):5'- AGAGAGGCCCTGTGCTCAG -3'
(R):5'- GTCCTGAGTACTACACAAACTTCATG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation