Incidental Mutation 'R8812:Nup205'
| ID |
672477 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup205
|
| Ensembl Gene |
ENSMUSG00000038759 |
| Gene Name |
nucleoporin 205 |
| Synonyms |
3830404O05Rik |
| MMRRC Submission |
068647-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R8812 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
35154551-35224534 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 35191269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 1000
(L1000R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043815]
[ENSMUST00000170234]
[ENSMUST00000201374]
|
| AlphaFold |
A0A0J9YUD5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043815
AA Change: L947R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039656
Gene: ENSMUSG00000038759
AA Change: L947R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:Nup192
|
14 |
1684 |
N/A |
PFAM |
|
low complexity region
|
1995 |
2005 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170234
|
| SMART Domains |
Protein: ENSMUSP00000130033
Gene: ENSMUSG00000038759
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3414
|
13 |
322 |
9.7e-98 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000201374
AA Change: L1000R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144126
Gene: ENSMUSG00000038759
AA Change: L1000R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
50 |
N/A |
INTRINSIC |
|
Pfam:Nup192
|
67 |
1737 |
N/A |
PFAM |
|
low complexity region
|
2048 |
2058 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleoporin, which is a subunit of the nuclear pore complex that functions in active transport of proteins, RNAs and ribonucleoprotein particles between the nucleus and cytoplasm. Mutations in this gene are associated with steroid-resistant nephrotic syndrome. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
All alleles(32) : Targeted(2) Gene trapped(30)
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
C |
A |
13: 77,480,471 (GRCm39) |
P1167Q |
probably damaging |
Het |
| Abtb3 |
A |
G |
10: 85,463,113 (GRCm39) |
Q626R |
probably damaging |
Het |
| Adcy10 |
A |
T |
1: 165,378,867 (GRCm39) |
Q885H |
probably damaging |
Het |
| Alkal2 |
C |
T |
12: 30,940,055 (GRCm39) |
L139F |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,441,062 (GRCm39) |
M439K |
probably benign |
Het |
| Arl11 |
C |
A |
14: 61,548,422 (GRCm39) |
Y77* |
probably null |
Het |
| Bcas3 |
T |
C |
11: 85,449,973 (GRCm39) |
Y669H |
probably benign |
Het |
| Bpifb3 |
C |
T |
2: 153,764,516 (GRCm39) |
A136V |
probably benign |
Het |
| Ccne2 |
A |
G |
4: 11,202,279 (GRCm39) |
T345A |
probably benign |
Het |
| Ciz1 |
T |
C |
2: 32,254,286 (GRCm39) |
S76P |
probably benign |
Het |
| Clip4 |
A |
T |
17: 72,107,800 (GRCm39) |
K94* |
probably null |
Het |
| Cthrc1 |
G |
A |
15: 38,947,866 (GRCm39) |
R195H |
probably damaging |
Het |
| Ddx31 |
T |
C |
2: 28,730,816 (GRCm39) |
|
probably benign |
Het |
| Elf2 |
T |
A |
3: 51,174,188 (GRCm39) |
D113V |
possibly damaging |
Het |
| Esrrb |
A |
G |
12: 86,535,324 (GRCm39) |
N155S |
probably benign |
Het |
| Flnb |
A |
G |
14: 7,887,624 (GRCm38) |
D478G |
probably benign |
Het |
| Galm |
T |
A |
17: 80,435,215 (GRCm39) |
L24H |
probably damaging |
Het |
| Gask1b |
T |
C |
3: 79,816,078 (GRCm39) |
S363P |
possibly damaging |
Het |
| Gon4l |
G |
A |
3: 88,802,314 (GRCm39) |
G975D |
possibly damaging |
Het |
| Hspbp1 |
T |
G |
7: 4,667,783 (GRCm39) |
M237L |
probably benign |
Het |
| Ighv1-62-1 |
A |
T |
12: 115,350,367 (GRCm39) |
M100K |
probably damaging |
Het |
| Ipo8 |
A |
T |
6: 148,676,575 (GRCm39) |
D971E |
possibly damaging |
Het |
| Itgax |
C |
T |
7: 127,732,979 (GRCm39) |
A286V |
probably damaging |
Het |
| Jpt2 |
T |
C |
17: 25,179,578 (GRCm39) |
Q3R |
probably benign |
Het |
| Katnip |
A |
C |
7: 125,396,867 (GRCm39) |
R309S |
probably benign |
Het |
| Klrg2 |
A |
C |
6: 38,613,838 (GRCm39) |
L55R |
probably damaging |
Het |
| Lrp6 |
T |
A |
6: 134,433,141 (GRCm39) |
M1397L |
probably benign |
Het |
| Lrrc31 |
T |
A |
3: 30,733,328 (GRCm39) |
Q462L |
probably benign |
Het |
| Lyg2 |
T |
A |
1: 37,949,054 (GRCm39) |
I103F |
probably damaging |
Het |
| Map10 |
T |
C |
8: 126,396,664 (GRCm39) |
V19A |
probably damaging |
Het |
| Map1b |
T |
A |
13: 99,569,323 (GRCm39) |
M1133L |
unknown |
Het |
| Mrgpra4 |
A |
G |
7: 47,631,481 (GRCm39) |
V40A |
probably benign |
Het |
| Myh1 |
G |
A |
11: 67,099,967 (GRCm39) |
G626R |
probably benign |
Het |
| Myo9a |
T |
C |
9: 59,687,030 (GRCm39) |
V45A |
probably benign |
Het |
| Ncdn |
A |
G |
4: 126,638,905 (GRCm39) |
F638S |
possibly damaging |
Het |
| Ncs1 |
T |
A |
2: 31,174,213 (GRCm39) |
M121K |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,437,180 (GRCm39) |
V16A |
probably damaging |
Het |
| Nktr |
T |
A |
9: 121,579,317 (GRCm39) |
D1128E |
unknown |
Het |
| Obscn |
T |
C |
11: 58,925,921 (GRCm39) |
E5604G |
probably damaging |
Het |
| Or1p4-ps1 |
T |
A |
11: 74,208,534 (GRCm39) |
S228T |
unknown |
Het |
| Or2p2 |
T |
C |
13: 21,257,220 (GRCm39) |
N84D |
probably damaging |
Het |
| Or4a68 |
A |
G |
2: 89,270,209 (GRCm39) |
V138A |
probably benign |
Het |
| Or4c35 |
G |
T |
2: 89,808,715 (GRCm39) |
A198S |
possibly damaging |
Het |
| Or51ah3 |
G |
T |
7: 103,209,816 (GRCm39) |
C44F |
probably benign |
Het |
| Or5b96 |
A |
T |
19: 12,867,560 (GRCm39) |
V127E |
probably damaging |
Het |
| Or7g12 |
A |
G |
9: 18,899,812 (GRCm39) |
H176R |
possibly damaging |
Het |
| Ovch2 |
T |
A |
7: 107,392,462 (GRCm39) |
I294F |
probably damaging |
Het |
| Ovch2 |
A |
T |
7: 107,393,251 (GRCm39) |
C207* |
probably null |
Het |
| P3h2 |
T |
A |
16: 25,801,467 (GRCm39) |
Y397F |
possibly damaging |
Het |
| Pappa |
A |
T |
4: 65,123,166 (GRCm39) |
I834F |
possibly damaging |
Het |
| Pcdha11 |
T |
C |
18: 37,140,716 (GRCm39) |
S782P |
probably benign |
Het |
| Pex1 |
T |
C |
5: 3,681,614 (GRCm39) |
V980A |
probably benign |
Het |
| Pik3c2a |
G |
T |
7: 115,951,112 (GRCm39) |
L1258I |
probably damaging |
Het |
| Pmp22 |
T |
A |
11: 63,049,239 (GRCm39) |
*161R |
probably null |
Het |
| Ppp1r26 |
T |
A |
2: 28,341,192 (GRCm39) |
M274K |
probably benign |
Het |
| Ppp6r2 |
T |
C |
15: 89,167,275 (GRCm39) |
V830A |
probably benign |
Het |
| Pramel34 |
T |
C |
5: 93,785,660 (GRCm39) |
T207A |
possibly damaging |
Het |
| Prss1 |
T |
A |
6: 41,439,520 (GRCm39) |
N84K |
probably benign |
Het |
| Rab3il1 |
G |
A |
19: 10,004,141 (GRCm39) |
A18T |
probably damaging |
Het |
| Sbf2 |
A |
T |
7: 109,929,069 (GRCm39) |
S1471T |
probably damaging |
Het |
| Setdb1 |
T |
A |
3: 95,263,371 (GRCm39) |
D45V |
probably damaging |
Het |
| Sik3 |
G |
T |
9: 46,089,811 (GRCm39) |
V275L |
probably benign |
Het |
| Skint6 |
C |
A |
4: 112,846,149 (GRCm39) |
M659I |
probably benign |
Het |
| Slc24a1 |
T |
A |
9: 64,835,985 (GRCm39) |
D714V |
unknown |
Het |
| Slc26a5 |
T |
A |
5: 22,018,880 (GRCm39) |
D653V |
probably damaging |
Het |
| Snrnp27 |
A |
T |
6: 86,653,196 (GRCm39) |
C141S |
probably benign |
Het |
| Stradb |
A |
G |
1: 59,033,478 (GRCm39) |
I380M |
probably benign |
Het |
| Sult1e1 |
T |
C |
5: 87,735,501 (GRCm39) |
Y59C |
probably benign |
Het |
| Tas2r122 |
C |
T |
6: 132,688,702 (GRCm39) |
A64T |
probably benign |
Het |
| Tep1 |
C |
T |
14: 51,074,589 (GRCm39) |
C1812Y |
probably damaging |
Het |
| Tln2 |
C |
A |
9: 67,128,693 (GRCm39) |
E1465D |
possibly damaging |
Het |
| Trio |
A |
T |
15: 27,905,311 (GRCm39) |
C152S |
unknown |
Het |
| Tro |
G |
A |
X: 149,438,555 (GRCm39) |
S34L |
unknown |
Het |
| Vmn1r15 |
A |
G |
6: 57,235,123 (GRCm39) |
|
probably benign |
Het |
| Vmn1r19 |
A |
G |
6: 57,381,436 (GRCm39) |
|
probably benign |
Het |
| Vmn1r75 |
A |
G |
7: 11,614,630 (GRCm39) |
T121A |
possibly damaging |
Het |
| Vmn2r32 |
A |
G |
7: 7,477,669 (GRCm39) |
F241L |
probably damaging |
Het |
| Vmn2r66 |
A |
G |
7: 84,654,893 (GRCm39) |
L472P |
probably damaging |
Het |
| Ylpm1 |
G |
T |
12: 85,043,566 (GRCm39) |
W101C |
unknown |
Het |
| Zdbf2 |
C |
A |
1: 63,347,272 (GRCm39) |
H1884N |
probably benign |
Het |
| Zfp1005 |
T |
A |
2: 150,109,624 (GRCm39) |
C105S |
possibly damaging |
Het |
|
| Other mutations in Nup205 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00484:Nup205
|
APN |
6 |
35,191,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01086:Nup205
|
APN |
6 |
35,185,871 (GRCm39) |
splice site |
probably benign |
|
|
IGL01138:Nup205
|
APN |
6 |
35,185,019 (GRCm39) |
nonsense |
probably null |
|
|
IGL01333:Nup205
|
APN |
6 |
35,217,998 (GRCm39) |
missense |
probably benign |
|
|
IGL01399:Nup205
|
APN |
6 |
35,196,624 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01466:Nup205
|
APN |
6 |
35,176,894 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01913:Nup205
|
APN |
6 |
35,204,365 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02159:Nup205
|
APN |
6 |
35,166,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02442:Nup205
|
APN |
6 |
35,167,003 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02447:Nup205
|
APN |
6 |
35,204,511 (GRCm39) |
splice site |
probably null |
|
|
IGL02558:Nup205
|
APN |
6 |
35,166,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03306:Nup205
|
APN |
6 |
35,185,104 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03328:Nup205
|
APN |
6 |
35,209,349 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Figaro
|
UTSW |
6 |
35,173,649 (GRCm39) |
splice site |
probably null |
|
|
Marcellina
|
UTSW |
6 |
35,160,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Spirit
|
UTSW |
6 |
35,209,343 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Susanna
|
UTSW |
6 |
35,185,044 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
voyager
|
UTSW |
6 |
35,166,820 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
BB007:Nup205
|
UTSW |
6 |
35,171,511 (GRCm39) |
missense |
probably damaging |
0.98 |
|
BB017:Nup205
|
UTSW |
6 |
35,171,511 (GRCm39) |
missense |
probably damaging |
0.98 |
|
P0012:Nup205
|
UTSW |
6 |
35,173,478 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0102:Nup205
|
UTSW |
6 |
35,202,715 (GRCm39) |
splice site |
probably benign |
|
|
R0102:Nup205
|
UTSW |
6 |
35,202,715 (GRCm39) |
splice site |
probably benign |
|
|
R0362:Nup205
|
UTSW |
6 |
35,173,649 (GRCm39) |
splice site |
probably null |
|
|
R0374:Nup205
|
UTSW |
6 |
35,185,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0415:Nup205
|
UTSW |
6 |
35,191,569 (GRCm39) |
splice site |
probably benign |
|
|
R0427:Nup205
|
UTSW |
6 |
35,171,398 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0543:Nup205
|
UTSW |
6 |
35,175,904 (GRCm39) |
missense |
probably benign |
|
|
R0611:Nup205
|
UTSW |
6 |
35,202,903 (GRCm39) |
missense |
probably null |
1.00 |
|
R0761:Nup205
|
UTSW |
6 |
35,173,363 (GRCm39) |
splice site |
probably benign |
|
|
R0828:Nup205
|
UTSW |
6 |
35,171,501 (GRCm39) |
missense |
probably benign |
|
|
R0906:Nup205
|
UTSW |
6 |
35,213,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1023:Nup205
|
UTSW |
6 |
35,211,641 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1033:Nup205
|
UTSW |
6 |
35,204,377 (GRCm39) |
missense |
probably benign |
|
|
R1375:Nup205
|
UTSW |
6 |
35,177,006 (GRCm39) |
splice site |
probably benign |
|
|
R1447:Nup205
|
UTSW |
6 |
35,192,120 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1468:Nup205
|
UTSW |
6 |
35,202,917 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1468:Nup205
|
UTSW |
6 |
35,202,917 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1625:Nup205
|
UTSW |
6 |
35,168,878 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1652:Nup205
|
UTSW |
6 |
35,215,901 (GRCm39) |
missense |
probably benign |
|
|
R1659:Nup205
|
UTSW |
6 |
35,211,723 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1693:Nup205
|
UTSW |
6 |
35,187,906 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1769:Nup205
|
UTSW |
6 |
35,182,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1839:Nup205
|
UTSW |
6 |
35,196,649 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1959:Nup205
|
UTSW |
6 |
35,210,301 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2051:Nup205
|
UTSW |
6 |
35,207,451 (GRCm39) |
missense |
probably benign |
0.29 |
|
R2267:Nup205
|
UTSW |
6 |
35,218,284 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2401:Nup205
|
UTSW |
6 |
35,185,069 (GRCm39) |
nonsense |
probably null |
|
|
R3697:Nup205
|
UTSW |
6 |
35,165,646 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3938:Nup205
|
UTSW |
6 |
35,196,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4074:Nup205
|
UTSW |
6 |
35,168,975 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4117:Nup205
|
UTSW |
6 |
35,217,947 (GRCm39) |
nonsense |
probably null |
|
|
R4364:Nup205
|
UTSW |
6 |
35,168,962 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4366:Nup205
|
UTSW |
6 |
35,168,962 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4594:Nup205
|
UTSW |
6 |
35,173,424 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4706:Nup205
|
UTSW |
6 |
35,178,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4787:Nup205
|
UTSW |
6 |
35,178,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4849:Nup205
|
UTSW |
6 |
35,207,505 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4850:Nup205
|
UTSW |
6 |
35,207,465 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4943:Nup205
|
UTSW |
6 |
35,201,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4966:Nup205
|
UTSW |
6 |
35,220,784 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5138:Nup205
|
UTSW |
6 |
35,202,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5251:Nup205
|
UTSW |
6 |
35,173,417 (GRCm39) |
splice site |
probably null |
|
|
R5444:Nup205
|
UTSW |
6 |
35,166,124 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5760:Nup205
|
UTSW |
6 |
35,224,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5762:Nup205
|
UTSW |
6 |
35,207,483 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5762:Nup205
|
UTSW |
6 |
35,204,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5941:Nup205
|
UTSW |
6 |
35,209,343 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5969:Nup205
|
UTSW |
6 |
35,154,513 (GRCm39) |
unclassified |
probably benign |
|
|
R6003:Nup205
|
UTSW |
6 |
35,189,751 (GRCm39) |
missense |
probably benign |
|
|
R6178:Nup205
|
UTSW |
6 |
35,220,778 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6315:Nup205
|
UTSW |
6 |
35,213,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6392:Nup205
|
UTSW |
6 |
35,166,820 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6710:Nup205
|
UTSW |
6 |
35,224,308 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6954:Nup205
|
UTSW |
6 |
35,185,044 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7022:Nup205
|
UTSW |
6 |
35,220,871 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7041:Nup205
|
UTSW |
6 |
35,201,470 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R7052:Nup205
|
UTSW |
6 |
35,192,077 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7310:Nup205
|
UTSW |
6 |
35,202,904 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7363:Nup205
|
UTSW |
6 |
35,209,508 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7399:Nup205
|
UTSW |
6 |
35,191,611 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7428:Nup205
|
UTSW |
6 |
35,204,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7553:Nup205
|
UTSW |
6 |
35,178,934 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7665:Nup205
|
UTSW |
6 |
35,154,555 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7841:Nup205
|
UTSW |
6 |
35,224,372 (GRCm39) |
missense |
unknown |
|
|
R7930:Nup205
|
UTSW |
6 |
35,171,511 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7973:Nup205
|
UTSW |
6 |
35,222,274 (GRCm39) |
missense |
probably benign |
|
|
R7976:Nup205
|
UTSW |
6 |
35,175,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8073:Nup205
|
UTSW |
6 |
35,179,104 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8080:Nup205
|
UTSW |
6 |
35,204,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8118:Nup205
|
UTSW |
6 |
35,207,451 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8213:Nup205
|
UTSW |
6 |
35,202,138 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8237:Nup205
|
UTSW |
6 |
35,204,438 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8408:Nup205
|
UTSW |
6 |
35,202,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8807:Nup205
|
UTSW |
6 |
35,160,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9061:Nup205
|
UTSW |
6 |
35,196,808 (GRCm39) |
intron |
probably benign |
|
|
R9261:Nup205
|
UTSW |
6 |
35,176,792 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9403:Nup205
|
UTSW |
6 |
35,176,909 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9648:Nup205
|
UTSW |
6 |
35,202,746 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9744:Nup205
|
UTSW |
6 |
35,209,510 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9800:Nup205
|
UTSW |
6 |
35,163,468 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
Z1177:Nup205
|
UTSW |
6 |
35,185,728 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Z1177:Nup205
|
UTSW |
6 |
35,154,540 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACTTGATGACAGTCGTCCC -3'
(R):5'- GTAGCATGTGTTTGAAGCACC -3'
Sequencing Primer
(F):5'- CTGGCCAGGCAAGTCTTAAACTTAG -3'
(R):5'- GCATGTGTTTGAAGCACCACATTTAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation