Incidental Mutation 'R6955:Nup93'
ID |
541415 |
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 # |
R6955 (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 A
at 95036301 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 702
(Y702N)
|
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: Y702N
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000078878 Gene: ENSMUSG00000032939 AA Change: Y702N
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: Y702N
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000105174 Gene: ENSMUSG00000032939 AA Change: Y702N
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 |
possibly damaging
Transcript: ENSMUST00000211822
AA Change: Y579N
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212824
AA Change: Y702N
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,244,307 (GRCm39) |
F2057I |
probably benign |
Het |
Abl2 |
A |
G |
1: 156,450,219 (GRCm39) |
T108A |
probably damaging |
Het |
Amfr |
A |
T |
8: 94,727,004 (GRCm39) |
W70R |
probably damaging |
Het |
Cacna1h |
T |
C |
17: 25,607,030 (GRCm39) |
T963A |
probably damaging |
Het |
Cdca2 |
A |
G |
14: 67,952,453 (GRCm39) |
M1T |
probably null |
Het |
Chd2 |
A |
G |
7: 73,125,171 (GRCm39) |
V62A |
probably damaging |
Het |
Cpeb4 |
T |
A |
11: 31,858,864 (GRCm39) |
L87Q |
possibly damaging |
Het |
Ddx17 |
T |
C |
15: 79,414,668 (GRCm39) |
M500V |
probably benign |
Het |
Emilin1 |
T |
C |
5: 31,075,253 (GRCm39) |
L498P |
probably damaging |
Het |
Fhod1 |
C |
T |
8: 106,059,639 (GRCm39) |
C682Y |
probably benign |
Het |
Fshr |
A |
T |
17: 89,292,894 (GRCm39) |
S595T |
probably benign |
Het |
Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
Inf2 |
T |
C |
12: 112,577,165 (GRCm39) |
V1003A |
unknown |
Het |
Itpr3 |
A |
G |
17: 27,340,441 (GRCm39) |
E2651G |
probably damaging |
Het |
Kalrn |
A |
G |
16: 34,040,506 (GRCm39) |
W735R |
probably damaging |
Het |
Kif5b |
T |
C |
18: 6,211,070 (GRCm39) |
N798S |
probably benign |
Het |
Klb |
T |
A |
5: 65,536,431 (GRCm39) |
L587* |
probably null |
Het |
Krt82 |
T |
A |
15: 101,451,284 (GRCm39) |
D375V |
probably damaging |
Het |
Lig4 |
A |
T |
8: 10,023,384 (GRCm39) |
V132D |
probably damaging |
Het |
Lrpprc |
T |
C |
17: 85,084,417 (GRCm39) |
I99V |
probably damaging |
Het |
Ly75 |
T |
C |
2: 60,158,217 (GRCm39) |
I1023V |
possibly damaging |
Het |
Mcam |
T |
A |
9: 44,050,566 (GRCm39) |
I286N |
probably damaging |
Het |
Myh15 |
G |
T |
16: 48,901,598 (GRCm39) |
|
probably null |
Het |
Nup210 |
T |
C |
6: 91,064,909 (GRCm39) |
E197G |
probably damaging |
Het |
Or4p4 |
T |
A |
2: 88,483,348 (GRCm39) |
I284N |
probably damaging |
Het |
Osbpl8 |
T |
C |
10: 111,105,305 (GRCm39) |
|
probably null |
Het |
Pdzd2 |
A |
G |
15: 12,401,550 (GRCm39) |
S767P |
probably damaging |
Het |
Plcd1 |
A |
T |
9: 118,900,924 (GRCm39) |
N765K |
probably benign |
Het |
Poglut2 |
A |
T |
1: 44,156,257 (GRCm39) |
L110Q |
probably damaging |
Het |
Rnf208 |
T |
C |
2: 25,133,414 (GRCm39) |
V36A |
probably benign |
Het |
Rpl5 |
G |
A |
5: 108,049,912 (GRCm39) |
R33Q |
probably benign |
Het |
Selp |
A |
T |
1: 163,972,478 (GRCm39) |
I706F |
possibly damaging |
Het |
Sfmbt1 |
A |
G |
14: 30,487,991 (GRCm39) |
|
probably benign |
Het |
Slc25a39 |
T |
C |
11: 102,294,344 (GRCm39) |
I328V |
probably benign |
Het |
Smc4 |
G |
A |
3: 68,931,642 (GRCm39) |
E604K |
possibly damaging |
Het |
Sorcs3 |
A |
G |
19: 48,737,782 (GRCm39) |
Y733C |
possibly damaging |
Het |
Ttll5 |
T |
C |
12: 85,911,353 (GRCm39) |
V237A |
possibly damaging |
Het |
Uimc1 |
T |
A |
13: 55,188,359 (GRCm39) |
R567W |
possibly damaging |
Het |
Wbp4 |
A |
T |
14: 79,709,800 (GRCm39) |
I145N |
probably benign |
Het |
Xbp1 |
A |
G |
11: 5,472,018 (GRCm39) |
E32G |
probably null |
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 |
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'- CAGCGTCACAATGAACACTG -3'
(R):5'- CAGAGCTTTCTTTCAGAAGTCTG -3'
Sequencing Primer
(F):5'- TGTTGTGCCCGTCCAGAGAG -3'
(R):5'- CTCAGGATCACACTTGTCTC -3'
|
Posted On |
2018-11-28 |