Incidental Mutation 'R1769:Nup205'
| ID |
194685 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup205
|
| Ensembl Gene |
ENSMUSG00000038759 |
| Gene Name |
nucleoporin 205 |
| Synonyms |
3830404O05Rik |
| MMRRC Submission |
039800-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R1769 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
35154551-35224534 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 35182366 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 777
(G777D)
|
| 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: G724D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039656
Gene: ENSMUSG00000038759
AA Change: G724D
| 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: G777D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144126
Gene: ENSMUSG00000038759
AA Change: G777D
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201609
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202898
|
| Meta Mutation Damage Score |
0.8228 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
| Validation Efficiency |
100% (91/91) |
| 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: 91 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
A |
G |
5: 138,644,519 (GRCm39) |
I135V |
probably benign |
Het |
| Abca1 |
T |
A |
4: 53,074,325 (GRCm39) |
K1119N |
probably damaging |
Het |
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Abcc9 |
T |
C |
6: 142,573,194 (GRCm39) |
|
probably benign |
Het |
| Akap3 |
A |
G |
6: 126,842,809 (GRCm39) |
E476G |
possibly damaging |
Het |
| Aldh3b1 |
A |
G |
19: 3,968,740 (GRCm39) |
F271S |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,576,586 (GRCm39) |
V847A |
probably damaging |
Het |
| Best3 |
A |
G |
10: 116,859,883 (GRCm39) |
N381S |
probably benign |
Het |
| Blm |
A |
T |
7: 80,163,118 (GRCm39) |
S78T |
probably benign |
Het |
| Bmpr2 |
T |
A |
1: 59,907,520 (GRCm39) |
L871Q |
probably damaging |
Het |
| Car13 |
T |
A |
3: 14,715,795 (GRCm39) |
H104Q |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,880,629 (GRCm39) |
K446R |
probably damaging |
Het |
| Ccnb1ip1 |
T |
C |
14: 51,029,568 (GRCm39) |
M165V |
probably benign |
Het |
| Cd4 |
A |
T |
6: 124,843,618 (GRCm39) |
M431K |
possibly damaging |
Het |
| Cdh20 |
C |
T |
1: 109,980,606 (GRCm39) |
T178I |
probably damaging |
Het |
| Ceacam3 |
C |
T |
7: 16,892,301 (GRCm39) |
T348I |
probably damaging |
Het |
| Cfap54 |
C |
T |
10: 92,740,125 (GRCm39) |
|
probably null |
Het |
| Clcn6 |
A |
T |
4: 148,098,758 (GRCm39) |
|
probably null |
Het |
| Csf3 |
A |
G |
11: 98,593,246 (GRCm39) |
Y121C |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,567,505 (GRCm39) |
|
probably benign |
Het |
| Cyp2c69 |
A |
G |
19: 39,864,815 (GRCm39) |
I221T |
probably benign |
Het |
| Dgcr2 |
T |
C |
16: 17,675,115 (GRCm39) |
|
probably benign |
Het |
| Dhcr7 |
T |
C |
7: 143,401,250 (GRCm39) |
F474S |
probably damaging |
Het |
| Dnah1 |
T |
C |
14: 31,032,839 (GRCm39) |
I399V |
probably null |
Het |
| Efcab14 |
T |
A |
4: 115,610,188 (GRCm39) |
L183Q |
probably damaging |
Het |
| Evx2 |
A |
G |
2: 74,489,501 (GRCm39) |
V88A |
probably benign |
Het |
| Exph5 |
A |
G |
9: 53,285,109 (GRCm39) |
N730S |
probably benign |
Het |
| Farsb |
T |
A |
1: 78,443,620 (GRCm39) |
K196I |
probably benign |
Het |
| Fbln7 |
C |
T |
2: 128,735,682 (GRCm39) |
|
probably benign |
Het |
| Fhdc1 |
A |
G |
3: 84,356,085 (GRCm39) |
F453S |
probably damaging |
Het |
| Gast |
T |
A |
11: 100,227,684 (GRCm39) |
W89R |
probably damaging |
Het |
| Gata2 |
A |
G |
6: 88,182,237 (GRCm39) |
S402G |
probably benign |
Het |
| Gin1 |
T |
A |
1: 97,720,162 (GRCm39) |
S386T |
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,736,363 (GRCm39) |
E1870G |
probably damaging |
Het |
| Hivep3 |
T |
A |
4: 119,954,768 (GRCm39) |
V1028E |
possibly damaging |
Het |
| Ifi203 |
G |
A |
1: 173,756,326 (GRCm39) |
R486* |
probably null |
Het |
| Ifi209 |
G |
A |
1: 173,468,728 (GRCm39) |
S186N |
probably benign |
Het |
| Ifih1 |
C |
T |
2: 62,436,738 (GRCm39) |
A562T |
probably damaging |
Het |
| Itch |
T |
C |
2: 155,014,481 (GRCm39) |
L106S |
probably damaging |
Het |
| Itga4 |
T |
A |
2: 79,146,050 (GRCm39) |
|
probably null |
Het |
| Kdm4c |
A |
G |
4: 74,199,234 (GRCm39) |
S141G |
possibly damaging |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klra3 |
T |
C |
6: 130,307,226 (GRCm39) |
|
probably null |
Het |
| Lama2 |
A |
T |
10: 27,084,402 (GRCm39) |
S923T |
probably damaging |
Het |
| Lama2 |
G |
C |
10: 27,084,403 (GRCm39) |
F922L |
probably benign |
Het |
| Llgl1 |
G |
A |
11: 60,597,873 (GRCm39) |
V331M |
probably damaging |
Het |
| Lrrc30 |
T |
C |
17: 67,938,676 (GRCm39) |
*301W |
probably null |
Het |
| Map1lc3b |
C |
T |
8: 122,320,226 (GRCm39) |
|
probably benign |
Het |
| Mbd2 |
A |
G |
18: 70,749,690 (GRCm39) |
I302V |
probably benign |
Het |
| Med27 |
A |
G |
2: 29,390,307 (GRCm39) |
Y78C |
probably damaging |
Het |
| Mei1 |
C |
T |
15: 81,996,771 (GRCm39) |
|
probably null |
Het |
| Mideas |
G |
A |
12: 84,205,124 (GRCm39) |
|
probably benign |
Het |
| Miga1 |
T |
C |
3: 151,993,191 (GRCm39) |
E346G |
probably damaging |
Het |
| Myef2 |
A |
G |
2: 124,957,363 (GRCm39) |
S131P |
probably damaging |
Het |
| Myocd |
T |
C |
11: 65,069,527 (GRCm39) |
H899R |
probably benign |
Het |
| Ncam1 |
A |
G |
9: 49,456,556 (GRCm39) |
|
probably benign |
Het |
| Ngf |
T |
A |
3: 102,427,513 (GRCm39) |
N87K |
possibly damaging |
Het |
| Nol10 |
T |
A |
12: 17,466,709 (GRCm39) |
|
probably benign |
Het |
| Nrip2 |
A |
G |
6: 128,385,231 (GRCm39) |
I221V |
probably benign |
Het |
| Or5ac17 |
A |
G |
16: 59,036,344 (GRCm39) |
F211L |
probably benign |
Het |
| Or5b96 |
A |
G |
19: 12,867,047 (GRCm39) |
V298A |
probably damaging |
Het |
| Or6c1 |
T |
A |
10: 129,518,081 (GRCm39) |
T176S |
probably benign |
Het |
| Or7g35 |
A |
T |
9: 19,496,682 (GRCm39) |
Q283L |
probably damaging |
Het |
| Or8d6 |
G |
T |
9: 39,854,251 (GRCm39) |
D232Y |
probably benign |
Het |
| Oxt |
A |
T |
2: 130,418,220 (GRCm39) |
R31W |
probably damaging |
Het |
| Pde4dip |
A |
G |
3: 97,603,246 (GRCm39) |
S2248P |
probably benign |
Het |
| Pias1 |
A |
G |
9: 62,859,460 (GRCm39) |
V16A |
probably damaging |
Het |
| Pkp2 |
T |
C |
16: 16,080,561 (GRCm39) |
S616P |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,084,540 (GRCm39) |
Y379C |
probably damaging |
Het |
| Pnpt1 |
A |
G |
11: 29,104,159 (GRCm39) |
N540D |
probably benign |
Het |
| Ptpn23 |
G |
A |
9: 110,220,746 (GRCm39) |
H255Y |
possibly damaging |
Het |
| Rad21 |
T |
C |
15: 51,835,703 (GRCm39) |
N237D |
probably benign |
Het |
| Ryr3 |
A |
C |
2: 112,582,113 (GRCm39) |
|
probably null |
Het |
| Sgk1 |
C |
A |
10: 21,873,007 (GRCm39) |
|
probably benign |
Het |
| Slc1a5 |
G |
T |
7: 16,531,464 (GRCm39) |
A490S |
probably damaging |
Het |
| Slc5a8 |
T |
C |
10: 88,755,326 (GRCm39) |
Y478H |
probably benign |
Het |
| Slc5a8 |
T |
A |
10: 88,755,328 (GRCm39) |
Y478* |
probably null |
Het |
| Slc9a3 |
A |
T |
13: 74,311,190 (GRCm39) |
M562L |
probably benign |
Het |
| Spmip4 |
A |
G |
6: 50,568,801 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
G |
A |
6: 12,555,714 (GRCm39) |
R57* |
probably null |
Het |
| Tiam1 |
T |
C |
16: 89,657,167 (GRCm39) |
R690G |
probably damaging |
Het |
| Tmem150b |
A |
G |
7: 4,727,365 (GRCm39) |
S47P |
probably damaging |
Het |
| Trim39 |
C |
T |
17: 36,574,832 (GRCm39) |
R190Q |
probably damaging |
Het |
| Ttc32 |
A |
T |
12: 9,085,073 (GRCm39) |
I98L |
possibly damaging |
Het |
| Vps13c |
A |
G |
9: 67,873,003 (GRCm39) |
T3304A |
probably benign |
Het |
| Wdr35 |
A |
C |
12: 9,062,728 (GRCm39) |
D638A |
probably damaging |
Het |
| Wwc1 |
G |
T |
11: 35,752,671 (GRCm39) |
P797T |
probably benign |
Het |
| Zan |
T |
A |
5: 137,462,780 (GRCm39) |
T800S |
unknown |
Het |
| Zbbx |
A |
G |
3: 74,990,926 (GRCm39) |
|
probably benign |
Het |
| Zup1 |
T |
C |
10: 33,811,172 (GRCm39) |
M291V |
probably 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 |
|
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 |
|
R8812:Nup205
|
UTSW |
6 |
35,191,269 (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'- ACTGGCAACATGCTTTACCTCTGC -3'
(R):5'- AGCATCCCATTGTTCCCAACAAAGG -3'
Sequencing Primer
(F):5'- ATGCTTTACCTCTGCTTAGTAGTTTG -3'
(R):5'- CTGCTCAATTAGACATGGCG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation