Incidental Mutation 'R2267:Nup205'
ID |
242120 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nup205
|
Ensembl Gene |
ENSMUSG00000038759 |
Gene Name |
nucleoporin 205 |
Synonyms |
3830404O05Rik |
MMRRC Submission |
040267-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.962)
|
Stock # |
R2267 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
35154551-35224534 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 35218284 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1819
(S1819P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144126
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043815]
[ENSMUST00000170234]
[ENSMUST00000201374]
|
AlphaFold |
A0A0J9YUD5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043815
AA Change: S1766P
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000039656 Gene: ENSMUSG00000038759 AA Change: S1766P
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 |
noncoding transcript
Transcript: ENSMUST00000157183
|
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 |
noncoding transcript
Transcript: ENSMUST00000200739
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000201374
AA Change: S1819P
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000144126 Gene: ENSMUSG00000038759 AA Change: S1819P
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: ENSMUST00000201842
|
Meta Mutation Damage Score |
0.1183 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
98% (108/110) |
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: 104 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadac |
T |
A |
3: 59,944,737 (GRCm39) |
D136E |
probably damaging |
Het |
Abca16 |
A |
G |
7: 120,030,383 (GRCm39) |
D165G |
probably benign |
Het |
Abca8b |
G |
A |
11: 109,845,974 (GRCm39) |
T820M |
probably benign |
Het |
Acot2 |
C |
T |
12: 84,037,334 (GRCm39) |
A216V |
probably damaging |
Het |
Agap2 |
T |
A |
10: 126,918,297 (GRCm39) |
|
probably benign |
Het |
Ak7 |
T |
C |
12: 105,713,473 (GRCm39) |
V419A |
probably benign |
Het |
Apmap |
A |
G |
2: 150,430,821 (GRCm39) |
|
probably null |
Het |
Apob |
T |
C |
12: 8,065,475 (GRCm39) |
F4115S |
possibly damaging |
Het |
Cachd1 |
T |
A |
4: 100,806,266 (GRCm39) |
|
probably benign |
Het |
Ccdc39 |
T |
A |
3: 33,869,633 (GRCm39) |
E731D |
probably damaging |
Het |
Ces2a |
A |
T |
8: 105,466,822 (GRCm39) |
I65F |
probably benign |
Het |
Commd8 |
A |
G |
5: 72,322,765 (GRCm39) |
W51R |
probably damaging |
Het |
D2hgdh |
C |
T |
1: 93,763,157 (GRCm39) |
A314V |
probably damaging |
Het |
Dcun1d4 |
T |
A |
5: 73,638,618 (GRCm39) |
|
probably benign |
Het |
Dgke |
T |
A |
11: 88,943,295 (GRCm39) |
E231D |
probably benign |
Het |
Dhrs9 |
A |
G |
2: 69,223,197 (GRCm39) |
|
probably benign |
Het |
Dhx30 |
C |
T |
9: 109,916,102 (GRCm39) |
G662R |
probably damaging |
Het |
Dipk2b |
A |
G |
X: 18,289,926 (GRCm39) |
S179P |
possibly damaging |
Het |
Dnah7b |
T |
A |
1: 46,273,075 (GRCm39) |
M2401K |
probably damaging |
Het |
Dnmt3a |
T |
A |
12: 3,947,551 (GRCm39) |
|
probably null |
Het |
Dst |
C |
T |
1: 34,334,547 (GRCm39) |
T4874I |
probably damaging |
Het |
Eef2kmt |
G |
A |
16: 5,073,804 (GRCm39) |
|
probably benign |
Het |
Ess2 |
T |
C |
16: 17,727,859 (GRCm39) |
T107A |
probably damaging |
Het |
Etfa |
A |
T |
9: 55,394,015 (GRCm39) |
L212Q |
probably damaging |
Het |
Exosc5 |
T |
C |
7: 25,363,809 (GRCm39) |
L107P |
possibly damaging |
Het |
Fam117b |
T |
C |
1: 59,952,789 (GRCm39) |
L156P |
probably damaging |
Het |
Fam186b |
T |
G |
15: 99,183,524 (GRCm39) |
D40A |
probably damaging |
Het |
Fga |
T |
C |
3: 82,940,257 (GRCm39) |
L637P |
probably damaging |
Het |
Foxn4 |
T |
C |
5: 114,393,662 (GRCm39) |
T486A |
probably damaging |
Het |
Gcc1 |
A |
G |
6: 28,418,498 (GRCm39) |
S612P |
probably benign |
Het |
Gjd3 |
C |
T |
11: 98,873,227 (GRCm39) |
V206M |
probably damaging |
Het |
Gpam |
A |
T |
19: 55,061,142 (GRCm39) |
|
probably null |
Het |
Gpc6 |
A |
T |
14: 118,125,932 (GRCm39) |
|
probably null |
Het |
Gphb5 |
C |
G |
12: 75,459,720 (GRCm39) |
V92L |
probably benign |
Het |
Grid2ip |
C |
T |
5: 143,371,847 (GRCm39) |
P690L |
probably benign |
Het |
Gsdmc |
T |
C |
15: 63,648,647 (GRCm39) |
E429G |
probably benign |
Het |
H2bc9 |
T |
C |
13: 23,727,162 (GRCm39) |
K121E |
possibly damaging |
Het |
Heatr5a |
T |
C |
12: 51,940,528 (GRCm39) |
D1444G |
possibly damaging |
Het |
Hmcn1 |
T |
C |
1: 150,474,761 (GRCm39) |
S4709G |
probably benign |
Het |
Hr |
A |
T |
14: 70,795,547 (GRCm39) |
D393V |
probably benign |
Het |
Ido2 |
T |
C |
8: 25,025,268 (GRCm39) |
Y253C |
probably damaging |
Het |
Itgal |
A |
G |
7: 126,905,873 (GRCm39) |
I352V |
possibly damaging |
Het |
Itih4 |
A |
G |
14: 30,614,385 (GRCm39) |
D445G |
probably damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Kcnt2 |
G |
A |
1: 140,501,421 (GRCm39) |
|
probably null |
Het |
Klk1b21 |
T |
C |
7: 43,753,863 (GRCm39) |
I49T |
possibly damaging |
Het |
Klrb1 |
A |
T |
6: 128,699,937 (GRCm39) |
S25T |
probably damaging |
Het |
L3mbtl3 |
C |
T |
10: 26,207,755 (GRCm39) |
W321* |
probably null |
Het |
Lama2 |
T |
A |
10: 26,868,932 (GRCm39) |
I2838F |
probably damaging |
Het |
Lrrtm1 |
C |
A |
6: 77,220,996 (GRCm39) |
A151E |
probably damaging |
Het |
Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
Magi3 |
G |
A |
3: 103,928,382 (GRCm39) |
|
probably benign |
Het |
Mamdc2 |
A |
T |
19: 23,281,267 (GRCm39) |
|
probably benign |
Het |
Mcc |
T |
C |
18: 44,652,608 (GRCm39) |
D272G |
probably damaging |
Het |
Mgst3 |
T |
A |
1: 167,201,368 (GRCm39) |
T106S |
probably benign |
Het |
Mink1 |
G |
A |
11: 70,492,550 (GRCm39) |
|
probably null |
Het |
Mlh3 |
G |
T |
12: 85,307,585 (GRCm39) |
H1181N |
possibly damaging |
Het |
Mmrn2 |
A |
G |
14: 34,121,449 (GRCm39) |
K773R |
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Mro |
T |
C |
18: 74,006,368 (GRCm39) |
I104T |
probably benign |
Het |
Mtbp |
G |
A |
15: 55,432,556 (GRCm39) |
|
probably null |
Het |
Mtss2 |
A |
G |
8: 111,455,362 (GRCm39) |
K92E |
possibly damaging |
Het |
Mybphl |
A |
G |
3: 108,272,317 (GRCm39) |
E2G |
probably damaging |
Het |
Nbeal1 |
T |
A |
1: 60,370,037 (GRCm39) |
|
probably benign |
Het |
Neurod2 |
C |
A |
11: 98,218,582 (GRCm39) |
C194F |
probably damaging |
Het |
Nr4a2 |
T |
A |
2: 57,002,018 (GRCm39) |
D145V |
possibly damaging |
Het |
Ntmt1 |
C |
A |
2: 30,710,472 (GRCm39) |
N58K |
probably benign |
Het |
Obsl1 |
T |
C |
1: 75,482,342 (GRCm39) |
H176R |
probably damaging |
Het |
Or51f1d |
G |
A |
7: 102,701,344 (GRCm39) |
V280I |
probably benign |
Het |
Or7g21 |
A |
T |
9: 19,032,737 (GRCm39) |
H162L |
probably benign |
Het |
Or8d2b |
A |
G |
9: 38,789,359 (GRCm39) |
T296A |
probably benign |
Het |
P2ry13 |
T |
C |
3: 59,117,449 (GRCm39) |
M110V |
probably damaging |
Het |
P2ry14 |
T |
C |
3: 59,022,992 (GRCm39) |
N165S |
probably damaging |
Het |
Phka1 |
A |
G |
X: 101,584,716 (GRCm39) |
|
probably benign |
Het |
Plxnd1 |
A |
G |
6: 115,939,704 (GRCm39) |
V1425A |
probably benign |
Het |
Ppp2ca |
G |
A |
11: 52,008,913 (GRCm39) |
G138R |
probably damaging |
Het |
Ptpn12 |
A |
T |
5: 21,203,409 (GRCm39) |
N456K |
probably damaging |
Het |
Scarb1 |
A |
T |
5: 125,364,439 (GRCm39) |
S97T |
possibly damaging |
Het |
Scyl1 |
C |
T |
19: 5,811,749 (GRCm39) |
D440N |
possibly damaging |
Het |
Sema5a |
C |
A |
15: 32,575,065 (GRCm39) |
T391K |
probably benign |
Het |
Sipa1l3 |
T |
A |
7: 29,099,027 (GRCm39) |
N414I |
probably damaging |
Het |
Skint6 |
T |
C |
4: 112,700,019 (GRCm39) |
|
probably null |
Het |
Slc35a3 |
T |
C |
3: 116,467,285 (GRCm39) |
K325E |
possibly damaging |
Het |
Spag17 |
C |
A |
3: 99,969,182 (GRCm39) |
|
probably null |
Het |
Spib |
T |
A |
7: 44,178,348 (GRCm39) |
M141L |
probably benign |
Het |
Srebf1 |
A |
G |
11: 60,097,973 (GRCm39) |
S44P |
probably damaging |
Het |
Styk1 |
T |
C |
6: 131,289,539 (GRCm39) |
E25G |
probably benign |
Het |
Taar8b |
T |
C |
10: 23,967,270 (GRCm39) |
N308S |
probably damaging |
Het |
Taf15 |
T |
G |
11: 83,388,088 (GRCm39) |
S200R |
probably damaging |
Het |
Tanc1 |
G |
A |
2: 59,667,563 (GRCm39) |
|
probably null |
Het |
Tas2r134 |
A |
G |
2: 51,518,249 (GRCm39) |
T243A |
probably benign |
Het |
Tatdn1 |
A |
T |
15: 58,777,601 (GRCm39) |
M218K |
probably damaging |
Het |
Tbc1d14 |
A |
G |
5: 36,700,561 (GRCm39) |
L269P |
possibly damaging |
Het |
Tbx1 |
T |
C |
16: 18,400,744 (GRCm39) |
|
probably null |
Het |
Tgfbr3l |
A |
G |
8: 4,300,506 (GRCm39) |
E228G |
probably benign |
Het |
Tmem233 |
G |
C |
5: 116,189,517 (GRCm39) |
|
probably benign |
Het |
Tmprss11d |
A |
G |
5: 86,521,208 (GRCm39) |
Y2H |
probably benign |
Het |
Trps1 |
G |
A |
15: 50,685,794 (GRCm39) |
R544C |
probably damaging |
Het |
Ttc22 |
T |
C |
4: 106,496,282 (GRCm39) |
V444A |
possibly damaging |
Het |
Ttc28 |
A |
G |
5: 111,373,869 (GRCm39) |
T1071A |
possibly damaging |
Het |
Tymp |
A |
T |
15: 89,258,011 (GRCm39) |
V378D |
probably damaging |
Het |
Ube2j1 |
T |
A |
4: 33,049,943 (GRCm39) |
F257I |
possibly damaging |
Het |
Vmn2r18 |
T |
C |
5: 151,510,127 (GRCm39) |
E82G |
probably damaging |
Het |
Wwp1 |
T |
C |
4: 19,638,618 (GRCm39) |
D575G |
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 |
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 |
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'- AAATTGAGCTGGCCATGCAG -3'
(R):5'- ATCTGACAACAGTGCCTCCC -3'
Sequencing Primer
(F):5'- CTGGCCATGCAGCAGGTAAG -3'
(R):5'- TGTAATGGGATCCAATGCCC -3'
|
Posted On |
2014-10-16 |