Incidental Mutation 'R7994:Nup93'
| ID |
651937 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup93
|
| Ensembl Gene |
ENSMUSG00000032939 |
| Gene Name |
nucleoporin 93 |
| Synonyms |
2410008G02Rik |
| MMRRC Submission |
046035-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.919)
|
| Stock # |
R7994 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
94941192-95043855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95032930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 565
(M565V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078878
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079961]
[ENSMUST00000109547]
[ENSMUST00000211822]
[ENSMUST00000212824]
|
| AlphaFold |
Q8BJ71 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079961
AA Change: M565V
PolyPhen 2
Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000078878
Gene: ENSMUSG00000032939
AA Change: M565V
| 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
AA Change: M565V
PolyPhen 2
Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000105174
Gene: ENSMUSG00000032939
AA Change: M565V
| 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
AA Change: M442V
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212824
AA Change: M565V
PolyPhen 2
Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)
|
| Meta Mutation Damage Score |
0.2448 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (56/56) |
| 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 |
|---|
| Abcb9 |
G |
C |
5: 124,220,090 (GRCm39) |
F318L |
probably benign |
Het |
| Adad1 |
T |
C |
3: 37,146,120 (GRCm39) |
I496T |
possibly damaging |
Het |
| Amotl1 |
T |
A |
9: 14,504,657 (GRCm39) |
N184Y |
probably damaging |
Het |
| Asz1 |
T |
C |
6: 18,054,640 (GRCm39) |
I388V |
probably benign |
Het |
| Brpf1 |
C |
G |
6: 113,292,002 (GRCm39) |
H349Q |
probably damaging |
Het |
| Cebpz |
T |
C |
17: 79,242,028 (GRCm39) |
D542G |
probably damaging |
Het |
| Cfap44 |
T |
C |
16: 44,252,501 (GRCm39) |
V870A |
probably damaging |
Het |
| Cnga1 |
T |
A |
5: 72,762,003 (GRCm39) |
I504F |
probably damaging |
Het |
| Col4a3 |
G |
A |
1: 82,640,627 (GRCm39) |
G315D |
unknown |
Het |
| Commd10 |
A |
G |
18: 47,091,986 (GRCm39) |
E11G |
possibly damaging |
Het |
| Coq9 |
A |
C |
8: 95,579,785 (GRCm39) |
N247H |
probably benign |
Het |
| Cort |
A |
T |
4: 149,209,762 (GRCm39) |
C97S |
probably damaging |
Het |
| Dclre1b |
T |
C |
3: 103,710,702 (GRCm39) |
D403G |
probably damaging |
Het |
| Efcab8 |
G |
A |
2: 153,625,724 (GRCm39) |
G128E |
|
Het |
| Ercc5 |
T |
C |
1: 44,217,494 (GRCm39) |
S946P |
possibly damaging |
Het |
| Fam221b |
C |
T |
4: 43,665,514 (GRCm39) |
V315M |
probably damaging |
Het |
| Fam3c |
T |
C |
6: 22,308,459 (GRCm39) |
K245E |
probably damaging |
Het |
| Gabbr2 |
C |
T |
4: 46,736,349 (GRCm39) |
|
probably null |
Het |
| Gadd45g |
T |
C |
13: 52,001,803 (GRCm39) |
S123P |
possibly damaging |
Het |
| Gm49368 |
A |
G |
7: 127,684,818 (GRCm39) |
D396G |
possibly damaging |
Het |
| Gsto1 |
G |
A |
19: 47,847,899 (GRCm39) |
R132K |
probably benign |
Het |
| Gtf3c2 |
T |
C |
5: 31,327,217 (GRCm39) |
I327V |
possibly damaging |
Het |
| Hipk2 |
T |
C |
6: 38,795,403 (GRCm39) |
K289E |
possibly damaging |
Het |
| Igkv4-80 |
G |
T |
6: 68,993,621 (GRCm39) |
T90N |
probably benign |
Het |
| Ilrun |
C |
A |
17: 27,986,917 (GRCm39) |
A270S |
probably benign |
Het |
| Madcam1 |
A |
T |
10: 79,504,069 (GRCm39) |
|
probably null |
Het |
| Mgat1 |
T |
C |
11: 49,152,770 (GRCm39) |
Y418H |
probably damaging |
Het |
| Myh10 |
T |
C |
11: 68,681,070 (GRCm39) |
|
probably null |
Het |
| Notch4 |
C |
A |
17: 34,797,064 (GRCm39) |
H937Q |
possibly damaging |
Het |
| Npas2 |
G |
T |
1: 39,367,418 (GRCm39) |
C313F |
possibly damaging |
Het |
| Or10al3 |
C |
T |
17: 38,012,326 (GRCm39) |
T255I |
probably damaging |
Het |
| Or1x6 |
T |
G |
11: 50,938,967 (GRCm39) |
V11G |
probably benign |
Het |
| Or52a5 |
T |
A |
7: 103,426,607 (GRCm39) |
H315L |
probably benign |
Het |
| Or56b2j |
T |
A |
7: 104,353,635 (GRCm39) |
V287D |
probably damaging |
Het |
| Or6k4 |
G |
T |
1: 173,964,273 (GRCm39) |
|
probably benign |
Het |
| Otop1 |
C |
T |
5: 38,457,195 (GRCm39) |
T318I |
probably benign |
Het |
| Pcdhgb6 |
A |
G |
18: 37,875,724 (GRCm39) |
E144G |
probably damaging |
Het |
| Plekha8 |
T |
C |
6: 54,592,230 (GRCm39) |
L18P |
probably damaging |
Het |
| Ppp1r13b |
T |
C |
12: 111,798,776 (GRCm39) |
D939G |
probably damaging |
Het |
| Prkag3 |
T |
A |
1: 74,786,414 (GRCm39) |
Q177L |
probably benign |
Het |
| Rcor3 |
C |
A |
1: 191,785,945 (GRCm39) |
S431I |
probably damaging |
Het |
| Scrib |
G |
A |
15: 75,936,431 (GRCm39) |
T475I |
probably damaging |
Het |
| Serpinb1a |
T |
A |
13: 33,027,033 (GRCm39) |
D303V |
probably damaging |
Het |
| Snrnp25 |
T |
A |
11: 32,157,569 (GRCm39) |
V49E |
probably benign |
Het |
| Sobp |
A |
T |
10: 42,897,163 (GRCm39) |
Y807* |
probably null |
Het |
| Spata31e4 |
T |
A |
13: 50,856,900 (GRCm39) |
V846D |
probably benign |
Het |
| Srcap |
T |
C |
7: 127,140,930 (GRCm39) |
V1570A |
probably benign |
Het |
| Srcin1 |
C |
T |
11: 97,422,742 (GRCm39) |
V731M |
probably damaging |
Het |
| Syt2 |
A |
T |
1: 134,675,330 (GRCm39) |
M394L |
possibly damaging |
Het |
| Tafa4 |
C |
T |
6: 96,840,847 (GRCm39) |
E49K |
probably damaging |
Het |
| Tert |
T |
A |
13: 73,797,074 (GRCm39) |
I1104N |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,621,439 (GRCm39) |
Y15667C |
probably damaging |
Het |
| Twnk |
A |
G |
19: 44,996,277 (GRCm39) |
T237A |
probably benign |
Het |
| Zfp157 |
T |
A |
5: 138,453,450 (GRCm39) |
|
probably null |
Het |
| Zfp503 |
C |
A |
14: 22,035,074 (GRCm39) |
S614I |
probably damaging |
Het |
| Zswim8 |
T |
A |
14: 20,758,072 (GRCm39) |
N52K |
possibly 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 |
|
|
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 |
|
|
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'- ACCCGCAAGTTTGAGTCCAC -3'
(R):5'- AGGCTGAAGTCAGTATTGTCAGTG -3'
Sequencing Primer
(F):5'- AAGTTTGAGTCCACGGACC -3'
(R):5'- GTCAGTATTGTCAGTGTAAGAAACC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation