Incidental Mutation 'R0748:Nup93'
| ID |
70229 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup93
|
| Ensembl Gene |
ENSMUSG00000032939 |
| Gene Name |
nucleoporin 93 |
| Synonyms |
2410008G02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.919)
|
| Stock # |
R0748 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
94941192-95043855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 95034571 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 629
(Y629N)
|
| 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: Y629N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078878
Gene: ENSMUSG00000032939
AA Change: Y629N
| 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: Y629N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105174
Gene: ENSMUSG00000032939
AA Change: Y629N
| 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: Y506N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212824
AA Change: Y629N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212984
|
| Meta Mutation Damage Score |
0.9527 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 92.4%
|
| Validation Efficiency |
100% (36/36) |
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
A |
G |
5: 30,401,874 (GRCm39) |
V718A |
probably damaging |
Het |
| Amigo1 |
A |
G |
3: 108,095,946 (GRCm39) |
S482G |
probably damaging |
Het |
| F2rl3 |
A |
G |
8: 73,489,379 (GRCm39) |
Q202R |
probably benign |
Het |
| Faap100 |
A |
G |
11: 120,262,997 (GRCm39) |
V787A |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,941,977 (GRCm39) |
Q290L |
possibly damaging |
Het |
| Flnc |
A |
G |
6: 29,446,343 (GRCm39) |
E920G |
probably damaging |
Het |
| Gm9881 |
T |
C |
16: 90,967,313 (GRCm39) |
N137S |
unknown |
Het |
| Hps4 |
A |
G |
5: 112,522,780 (GRCm39) |
E546G |
probably damaging |
Het |
| Htr2b |
A |
G |
1: 86,038,528 (GRCm39) |
I26T |
probably benign |
Het |
| Insr |
A |
C |
8: 3,308,841 (GRCm39) |
M65R |
probably damaging |
Het |
| Kif20a |
T |
C |
18: 34,761,241 (GRCm39) |
|
probably benign |
Het |
| L3mbtl1 |
A |
T |
2: 162,813,083 (GRCm39) |
|
probably benign |
Het |
| L3mbtl1 |
A |
C |
2: 162,813,084 (GRCm39) |
|
probably null |
Het |
| Lcn4 |
T |
C |
2: 26,558,359 (GRCm39) |
I175M |
probably damaging |
Het |
| Malt1 |
T |
A |
18: 65,608,331 (GRCm39) |
|
probably null |
Het |
| Nufip1 |
T |
C |
14: 76,348,508 (GRCm39) |
S46P |
probably damaging |
Het |
| Or10a49 |
C |
A |
7: 108,468,357 (GRCm39) |
M1I |
probably null |
Het |
| Pcsk6 |
T |
C |
7: 65,688,716 (GRCm39) |
|
probably benign |
Het |
| Rdx |
G |
C |
9: 51,976,160 (GRCm39) |
V33L |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,364,306 (GRCm39) |
L4535P |
probably damaging |
Het |
| Rorb |
T |
A |
19: 18,955,164 (GRCm39) |
T66S |
probably damaging |
Het |
| S100a9 |
T |
C |
3: 90,600,198 (GRCm39) |
D66G |
possibly damaging |
Het |
| Sacs |
T |
C |
14: 61,446,714 (GRCm39) |
I2920T |
probably damaging |
Het |
| Safb2 |
T |
C |
17: 56,882,580 (GRCm39) |
N351S |
probably benign |
Het |
| Ugt1a10 |
C |
T |
1: 88,142,845 (GRCm39) |
P113L |
probably damaging |
Het |
| Unc13b |
G |
A |
4: 43,241,164 (GRCm39) |
|
probably benign |
Het |
| Vars1 |
A |
G |
17: 35,216,988 (GRCm39) |
S489P |
probably damaging |
Het |
| Wars2 |
A |
G |
3: 99,123,888 (GRCm39) |
K250E |
probably damaging |
Het |
| Zfp292 |
A |
G |
4: 34,816,424 (GRCm39) |
|
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 |
|
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 |
|
R9721:Nup93
|
UTSW |
8 |
95,030,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATAGTGCTCCCATTAACGTGCC -3'
(R):5'- CTGTAGAAAGCTACCACGGGAACC -3'
Sequencing Primer
(F):5'- TGACTAGGGCAACTGTTCAGC -3'
(R):5'- CAGGAGAGACTTTCATTATGCTG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation