Incidental Mutation 'R2187:Nup93'
| ID |
237873 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup93
|
| Ensembl Gene |
ENSMUSG00000032939 |
| Gene Name |
nucleoporin 93 |
| Synonyms |
2410008G02Rik |
| MMRRC Submission |
040189-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.919)
|
| Stock # |
R2187 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
94941192-95043855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 95027478 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 295
(S295R)
|
| 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: S295R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078878
Gene: ENSMUSG00000032939
AA Change: S295R
| 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: S295R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105174
Gene: ENSMUSG00000032939
AA Change: S295R
| 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: S172R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212824
AA Change: S295R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212984
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
T |
A |
17: 31,324,491 (GRCm39) |
S245R |
probably damaging |
Het |
| AI597479 |
T |
A |
1: 43,139,983 (GRCm39) |
W70R |
probably damaging |
Het |
| Ankrd55 |
A |
G |
13: 112,520,039 (GRCm39) |
S575G |
probably benign |
Het |
| Bfsp2 |
T |
A |
9: 103,303,976 (GRCm39) |
K343* |
probably null |
Het |
| Cant1 |
A |
T |
11: 118,299,667 (GRCm39) |
Y227* |
probably null |
Het |
| Cd2bp2 |
T |
C |
7: 126,793,963 (GRCm39) |
N109D |
probably benign |
Het |
| Chmp6 |
A |
G |
11: 119,807,562 (GRCm39) |
E135G |
possibly damaging |
Het |
| Dsp |
T |
G |
13: 38,360,383 (GRCm39) |
S329R |
probably damaging |
Het |
| Epha5 |
A |
T |
5: 84,234,223 (GRCm39) |
F767L |
probably damaging |
Het |
| Epha7 |
A |
T |
4: 28,942,648 (GRCm39) |
T566S |
possibly damaging |
Het |
| Erap1 |
A |
T |
13: 74,810,524 (GRCm39) |
I288F |
probably damaging |
Het |
| Erich6 |
A |
G |
3: 58,537,266 (GRCm39) |
|
probably null |
Het |
| Fbxo10 |
A |
G |
4: 45,058,531 (GRCm39) |
V402A |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,960,604 (GRCm39) |
I1604F |
probably damaging |
Het |
| Foxd4 |
T |
G |
19: 24,877,219 (GRCm39) |
Q327P |
probably damaging |
Het |
| Fxn |
T |
A |
19: 24,257,853 (GRCm39) |
N26I |
probably benign |
Het |
| Hsf5 |
G |
T |
11: 87,529,010 (GRCm39) |
G582C |
possibly damaging |
Het |
| Itga8 |
A |
G |
2: 12,199,231 (GRCm39) |
V522A |
possibly damaging |
Het |
| Kplce |
A |
G |
3: 92,775,922 (GRCm39) |
S254P |
probably damaging |
Het |
| Lyst |
C |
T |
13: 13,883,926 (GRCm39) |
T2938I |
possibly damaging |
Het |
| Mib2 |
T |
C |
4: 155,739,390 (GRCm39) |
E863G |
possibly damaging |
Het |
| Mrgpra9 |
A |
G |
7: 46,884,797 (GRCm39) |
F290S |
probably damaging |
Het |
| Mst1 |
T |
C |
9: 107,961,539 (GRCm39) |
Y599H |
possibly damaging |
Het |
| Mylk4 |
T |
C |
13: 32,905,996 (GRCm39) |
I165V |
probably damaging |
Het |
| Nipsnap2 |
T |
C |
5: 129,823,537 (GRCm39) |
|
probably null |
Het |
| Nol8 |
T |
C |
13: 49,815,475 (GRCm39) |
Y528H |
probably benign |
Het |
| Nutm2 |
A |
T |
13: 50,621,453 (GRCm39) |
Q6L |
probably benign |
Het |
| Or2b6 |
A |
T |
13: 21,823,555 (GRCm39) |
I46N |
probably damaging |
Het |
| Or5ak20 |
T |
G |
2: 85,184,259 (GRCm39) |
S4R |
probably benign |
Het |
| Or5b12b |
T |
A |
19: 12,861,619 (GRCm39) |
C125S |
probably damaging |
Het |
| Or6c33 |
A |
G |
10: 129,853,557 (GRCm39) |
E109G |
probably damaging |
Het |
| Pip5k1a |
A |
T |
3: 94,979,229 (GRCm39) |
L189Q |
probably damaging |
Het |
| Plekha4 |
C |
T |
7: 45,198,698 (GRCm39) |
R574C |
probably damaging |
Het |
| Ppp2cb |
A |
G |
8: 34,100,705 (GRCm39) |
E42G |
possibly damaging |
Het |
| Prkd3 |
T |
A |
17: 79,282,983 (GRCm39) |
Q244L |
probably benign |
Het |
| Ptpn14 |
C |
T |
1: 189,595,425 (GRCm39) |
R1023* |
probably null |
Het |
| Ptpra |
A |
G |
2: 130,346,219 (GRCm39) |
T127A |
probably benign |
Het |
| Rad54l2 |
ACCTCCTCCTCCTCCTCCTCCTCCTC |
ACCTCCTCCTCCTCCTCCTCCTC |
9: 106,631,191 (GRCm39) |
|
probably benign |
Het |
| Rasgrf1 |
T |
C |
9: 89,876,888 (GRCm39) |
I751T |
possibly damaging |
Het |
| Rbm27 |
A |
G |
18: 42,459,022 (GRCm39) |
K697R |
probably damaging |
Het |
| Rhoa |
C |
T |
9: 108,212,352 (GRCm39) |
T127M |
probably benign |
Het |
| Rnpepl1 |
A |
G |
1: 92,844,617 (GRCm39) |
S370G |
probably null |
Het |
| Sdk1 |
C |
T |
5: 142,100,329 (GRCm39) |
T1453I |
probably damaging |
Het |
| Sel1l2 |
A |
G |
2: 140,072,793 (GRCm39) |
L614S |
probably damaging |
Het |
| Slc6a20b |
T |
A |
9: 123,427,653 (GRCm39) |
I419F |
probably damaging |
Het |
| Slc8a1 |
C |
T |
17: 81,955,982 (GRCm39) |
S352N |
possibly damaging |
Het |
| Spta1 |
A |
G |
1: 174,020,532 (GRCm39) |
D547G |
probably damaging |
Het |
| Tc2n |
G |
A |
12: 101,672,803 (GRCm39) |
T46I |
probably damaging |
Het |
| Terb1 |
T |
A |
8: 105,199,516 (GRCm39) |
Y476F |
probably benign |
Het |
| Trim12a |
T |
A |
7: 103,953,399 (GRCm39) |
E237D |
probably damaging |
Het |
| Usp47 |
T |
C |
7: 111,666,398 (GRCm39) |
L309P |
probably damaging |
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 |
|
|
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'- AGAACTCAGAGTCATGTGTTCTG -3'
(R):5'- ACATGGTGTTGGCACATCTC -3'
Sequencing Primer
(F):5'- CTCAGAGTCATGTGTTCTGAACATG -3'
(R):5'- CTACTCAGGATTTTTGCATGACTG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation