Incidental Mutation 'R6489:Nup93'
| ID |
522644 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup93
|
| Ensembl Gene |
ENSMUSG00000032939 |
| Gene Name |
nucleoporin 93 |
| Synonyms |
2410008G02Rik |
| MMRRC Submission |
044621-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.919)
|
| Stock # |
R6489 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
94941192-95043855 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 95028716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 193
(H193Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148458
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079961]
[ENSMUST00000109547]
[ENSMUST00000211822]
[ENSMUST00000212824]
|
| AlphaFold |
Q8BJ71 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079961
AA Change: H316Q
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000078878
Gene: ENSMUSG00000032939
AA Change: H316Q
| 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: H316Q
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000105174
Gene: ENSMUSG00000032939
AA Change: H316Q
| 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: H193Q
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212824
AA Change: H316Q
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212984
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.3%
- 20x: 90.6%
|
| Validation Efficiency |
100% (61/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadvl |
T |
C |
11: 69,901,145 (GRCm39) |
T650A |
probably benign |
Het |
| Alkbh7 |
T |
A |
17: 57,305,979 (GRCm39) |
S127T |
probably damaging |
Het |
| Ank3 |
G |
A |
10: 69,827,459 (GRCm39) |
A565T |
probably benign |
Het |
| App |
G |
T |
16: 84,853,408 (GRCm39) |
D223E |
unknown |
Het |
| Arhgef2 |
C |
A |
3: 88,550,321 (GRCm39) |
S675R |
probably damaging |
Het |
| Atg14 |
T |
C |
14: 47,786,480 (GRCm39) |
D258G |
probably damaging |
Het |
| Calhm5 |
A |
T |
10: 33,968,502 (GRCm39) |
W184R |
probably damaging |
Het |
| Cbr1b |
A |
T |
16: 93,427,286 (GRCm39) |
|
probably null |
Het |
| Ckap2l |
T |
C |
2: 129,111,034 (GRCm39) |
D721G |
possibly damaging |
Het |
| Cog8 |
T |
C |
8: 107,776,933 (GRCm39) |
T481A |
probably benign |
Het |
| Colec10 |
C |
A |
15: 54,325,609 (GRCm39) |
|
probably null |
Het |
| Cplx3 |
A |
T |
9: 57,521,009 (GRCm39) |
|
probably null |
Het |
| Dhx9 |
T |
C |
1: 153,332,389 (GRCm39) |
|
probably benign |
Het |
| Dock1 |
T |
C |
7: 134,592,270 (GRCm39) |
M935T |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,604,420 (GRCm39) |
N962K |
possibly damaging |
Het |
| Dym |
T |
C |
18: 75,213,297 (GRCm39) |
V173A |
probably benign |
Het |
| Exoc3l4 |
A |
G |
12: 111,395,131 (GRCm39) |
Y583C |
probably damaging |
Het |
| Flnb |
G |
A |
14: 7,867,551 (GRCm38) |
V103M |
probably damaging |
Het |
| Fzd1 |
T |
A |
5: 4,807,336 (GRCm39) |
Q82L |
probably benign |
Het |
| Gabrr1 |
A |
G |
4: 33,162,855 (GRCm39) |
I474V |
probably benign |
Het |
| Galnt11 |
G |
T |
5: 25,469,964 (GRCm39) |
W521L |
probably damaging |
Het |
| Glb1l3 |
A |
G |
9: 26,738,127 (GRCm39) |
V420A |
probably benign |
Het |
| H1f7 |
A |
T |
15: 98,154,888 (GRCm39) |
L87* |
probably null |
Het |
| Homer2 |
T |
C |
7: 81,274,026 (GRCm39) |
T57A |
probably benign |
Het |
| Ihh |
T |
A |
1: 74,985,670 (GRCm39) |
T272S |
probably damaging |
Het |
| Il27ra |
T |
C |
8: 84,758,179 (GRCm39) |
M524V |
probably benign |
Het |
| Mdp1 |
C |
A |
14: 55,897,848 (GRCm39) |
|
probably benign |
Het |
| Med12l |
A |
G |
3: 59,164,828 (GRCm39) |
K1436R |
probably damaging |
Het |
| Megf10 |
C |
T |
18: 57,424,879 (GRCm39) |
S1006F |
probably benign |
Het |
| Miga1 |
A |
T |
3: 151,984,645 (GRCm39) |
I426N |
probably damaging |
Het |
| Mtmr6 |
C |
T |
14: 60,537,963 (GRCm39) |
T654I |
possibly damaging |
Het |
| Nbeal1 |
A |
G |
1: 60,370,101 (GRCm39) |
S2673G |
possibly damaging |
Het |
| Or1e25 |
T |
A |
11: 73,494,265 (GRCm39) |
N286K |
probably damaging |
Het |
| Or4f7 |
A |
C |
2: 111,644,405 (GRCm39) |
L222W |
probably damaging |
Het |
| Or52ae9 |
T |
C |
7: 103,389,875 (GRCm39) |
N191D |
probably benign |
Het |
| Pdcd11 |
C |
T |
19: 47,098,191 (GRCm39) |
R826C |
probably damaging |
Het |
| Pde4dip |
G |
A |
3: 97,662,907 (GRCm39) |
R521* |
probably null |
Het |
| Phf2 |
T |
C |
13: 48,979,658 (GRCm39) |
S158G |
unknown |
Het |
| Pla2g15 |
A |
G |
8: 106,889,826 (GRCm39) |
E366G |
probably benign |
Het |
| Plekhm2 |
A |
T |
4: 141,359,344 (GRCm39) |
H494Q |
probably damaging |
Het |
| Prpsap2 |
A |
T |
11: 61,639,890 (GRCm39) |
M87K |
probably damaging |
Het |
| Rbm19 |
T |
G |
5: 120,258,195 (GRCm39) |
S137A |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,848,893 (GRCm39) |
I363L |
probably benign |
Het |
| Samd9l |
T |
C |
6: 3,376,896 (GRCm39) |
T122A |
probably benign |
Het |
| Scn4a |
G |
C |
11: 106,240,006 (GRCm39) |
D70E |
probably benign |
Het |
| Slc12a3 |
T |
A |
8: 95,061,632 (GRCm39) |
V293D |
possibly damaging |
Het |
| Slc6a7 |
T |
C |
18: 61,140,615 (GRCm39) |
Y139C |
probably damaging |
Het |
| Slco2b1 |
A |
T |
7: 99,339,762 (GRCm39) |
C9* |
probably null |
Het |
| Slitrk1 |
A |
T |
14: 109,148,735 (GRCm39) |
S659T |
possibly damaging |
Het |
| Son |
T |
G |
16: 91,452,044 (GRCm39) |
S264A |
possibly damaging |
Het |
| Svep1 |
C |
A |
4: 58,100,066 (GRCm39) |
G1326V |
probably damaging |
Het |
| Tcf12 |
A |
G |
9: 71,922,918 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,645,062 (GRCm39) |
V11185A |
probably damaging |
Het |
| Ubap2 |
T |
C |
4: 41,203,574 (GRCm39) |
|
probably null |
Het |
| Utp15 |
G |
T |
13: 98,387,117 (GRCm39) |
F434L |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vsnl1 |
T |
G |
12: 11,382,219 (GRCm39) |
|
probably benign |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zbtb34 |
A |
C |
2: 33,301,558 (GRCm39) |
S328A |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,346,637 (GRCm39) |
I1672T |
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 |
|
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'- GCTCTGTTGGCATCACAGTAC -3'
(R):5'- TCTGCAGCAAAGCACAGTG -3'
Sequencing Primer
(F):5'- GTTGGCATCACAGTACCTCCAG -3'
(R):5'- GCACAGTGCTCATGGTACC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation