Incidental Mutation 'R1468:Nup205'
| ID |
164665 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup205
|
| Ensembl Gene |
ENSMUSG00000038759 |
| Gene Name |
nucleoporin 205 |
| Synonyms |
3830404O05Rik |
| MMRRC Submission |
039521-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R1468 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
35154551-35224534 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 35202917 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043815]
[ENSMUST00000170234]
[ENSMUST00000201374]
|
| AlphaFold |
A0A0J9YUD5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000043815
|
| SMART Domains |
Protein: ENSMUSP00000039656
Gene: ENSMUSG00000038759
| 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 null
Transcript: ENSMUST00000201374
|
| SMART Domains |
Protein: ENSMUSP00000144126
Gene: ENSMUSG00000038759
| 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 |
0.9597 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.4%
- 10x: 90.8%
- 20x: 69.0%
|
| 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: 99 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
T |
G |
7: 12,246,507 (GRCm39) |
M1R |
probably null |
Het |
| 5031439G07Rik |
G |
T |
15: 84,837,345 (GRCm39) |
P280T |
probably damaging |
Het |
| Abca2 |
C |
T |
2: 25,331,308 (GRCm39) |
S1267L |
probably damaging |
Het |
| Acsl3 |
A |
T |
1: 78,684,126 (GRCm39) |
R719S |
probably benign |
Het |
| Adam1a |
A |
T |
5: 121,657,839 (GRCm39) |
|
probably null |
Het |
| Aldh6a1 |
T |
C |
12: 84,488,544 (GRCm39) |
E89G |
possibly damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,525,752 (GRCm39) |
Y238C |
probably damaging |
Het |
| Ankrd65 |
G |
A |
4: 155,877,362 (GRCm39) |
R291Q |
probably benign |
Het |
| Ano2 |
C |
T |
6: 125,773,227 (GRCm39) |
R287W |
probably damaging |
Het |
| Ap1ar |
A |
G |
3: 127,606,215 (GRCm39) |
I125T |
probably benign |
Het |
| Arid1b |
A |
G |
17: 5,293,197 (GRCm39) |
D705G |
probably damaging |
Het |
| Asb18 |
T |
A |
1: 89,924,005 (GRCm39) |
N86I |
probably damaging |
Het |
| Bicral |
A |
T |
17: 47,135,519 (GRCm39) |
S564T |
probably benign |
Het |
| Bpifa6 |
A |
G |
2: 153,831,192 (GRCm39) |
M253V |
probably benign |
Het |
| Braf |
T |
C |
6: 39,642,017 (GRCm39) |
D194G |
probably damaging |
Het |
| Brinp3 |
C |
A |
1: 146,777,700 (GRCm39) |
P716T |
probably benign |
Het |
| C7 |
T |
A |
15: 5,041,631 (GRCm39) |
Y425F |
probably damaging |
Het |
| Ccdc102a |
T |
C |
8: 95,632,714 (GRCm39) |
K421R |
probably benign |
Het |
| Cep89 |
G |
A |
7: 35,120,388 (GRCm39) |
|
probably null |
Het |
| Chgb |
A |
T |
2: 132,634,720 (GRCm39) |
M221L |
probably benign |
Het |
| Chst14 |
A |
G |
2: 118,758,145 (GRCm39) |
Y313C |
probably damaging |
Het |
| Ciita |
G |
A |
16: 10,331,152 (GRCm39) |
|
probably null |
Het |
| Clec12b |
A |
T |
6: 129,357,603 (GRCm39) |
I85N |
probably damaging |
Het |
| Clec2e |
G |
T |
6: 129,070,459 (GRCm39) |
Y187* |
probably null |
Het |
| Crbn |
T |
C |
6: 106,767,804 (GRCm39) |
K229E |
probably benign |
Het |
| Ctdspl2 |
A |
T |
2: 121,811,762 (GRCm39) |
Q201L |
probably benign |
Het |
| Cyp2c55 |
T |
A |
19: 38,999,525 (GRCm39) |
V77E |
probably damaging |
Het |
| Cyp2c69 |
A |
C |
19: 39,837,839 (GRCm39) |
D414E |
probably damaging |
Het |
| Dlg1 |
A |
G |
16: 31,661,640 (GRCm39) |
|
probably null |
Het |
| Dnah5 |
C |
A |
15: 28,230,609 (GRCm39) |
S169* |
probably null |
Het |
| Dock4 |
C |
A |
12: 40,805,809 (GRCm39) |
T927K |
probably benign |
Het |
| Esrp2 |
T |
G |
8: 106,860,453 (GRCm39) |
D259A |
probably damaging |
Het |
| Fam169a |
A |
G |
13: 97,255,038 (GRCm39) |
K418R |
probably benign |
Het |
| Fancm |
A |
T |
12: 65,146,067 (GRCm39) |
I597F |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,463,582 (GRCm39) |
V1375M |
probably damaging |
Het |
| Fbxw10 |
A |
T |
11: 62,753,464 (GRCm39) |
D486V |
probably damaging |
Het |
| Fermt1 |
C |
T |
2: 132,766,942 (GRCm39) |
E342K |
probably benign |
Het |
| Foxp1 |
T |
A |
6: 98,955,181 (GRCm39) |
H195L |
possibly damaging |
Het |
| Gfra1 |
T |
A |
19: 58,440,407 (GRCm39) |
I138L |
probably benign |
Het |
| Gm12185 |
T |
C |
11: 48,806,501 (GRCm39) |
D230G |
possibly damaging |
Het |
| Gpd2 |
A |
C |
2: 57,245,786 (GRCm39) |
T439P |
probably damaging |
Het |
| Gpm6a |
A |
T |
8: 55,490,385 (GRCm39) |
K20N |
probably damaging |
Het |
| Hc |
A |
T |
2: 34,873,819 (GRCm39) |
Y158* |
probably null |
Het |
| Hectd4 |
A |
T |
5: 121,487,235 (GRCm39) |
D3410V |
possibly damaging |
Het |
| Il17b |
G |
A |
18: 61,823,483 (GRCm39) |
|
probably null |
Het |
| Irx4 |
G |
T |
13: 73,413,695 (GRCm39) |
R55L |
possibly damaging |
Het |
| Lama3 |
T |
C |
18: 12,574,164 (GRCm39) |
V582A |
probably benign |
Het |
| Ldhd |
G |
T |
8: 112,353,925 (GRCm39) |
A425E |
possibly damaging |
Het |
| Lrp1b |
C |
T |
2: 40,817,841 (GRCm39) |
|
probably null |
Het |
| Lrp5 |
T |
C |
19: 3,670,191 (GRCm39) |
T638A |
possibly damaging |
Het |
| Lrrk1 |
A |
C |
7: 65,909,722 (GRCm39) |
F1996C |
probably damaging |
Het |
| Ly6h |
G |
A |
15: 75,437,986 (GRCm39) |
S21L |
probably benign |
Het |
| Mctp1 |
T |
C |
13: 76,973,392 (GRCm39) |
V431A |
probably benign |
Het |
| Metap2 |
C |
T |
10: 93,707,345 (GRCm39) |
|
probably null |
Het |
| Mfsd2b |
T |
A |
12: 4,920,536 (GRCm39) |
K94* |
probably null |
Het |
| Micall2 |
A |
G |
5: 139,705,097 (GRCm39) |
L79P |
probably damaging |
Het |
| Mucl2 |
T |
C |
15: 103,927,673 (GRCm39) |
T95A |
possibly damaging |
Het |
| Myo15a |
A |
T |
11: 60,396,832 (GRCm39) |
T2634S |
probably damaging |
Het |
| Myo5b |
G |
T |
18: 74,873,574 (GRCm39) |
V1467L |
probably damaging |
Het |
| Nfic |
G |
T |
10: 81,256,414 (GRCm39) |
D105E |
probably damaging |
Het |
| Nrdc |
T |
A |
4: 108,873,865 (GRCm39) |
F227Y |
probably benign |
Het |
| Nrp2 |
A |
T |
1: 62,777,458 (GRCm39) |
I88F |
probably damaging |
Het |
| Nup160 |
A |
T |
2: 90,530,887 (GRCm39) |
H515L |
probably benign |
Het |
| Oas1g |
G |
A |
5: 121,020,069 (GRCm39) |
T179I |
probably benign |
Het |
| Ogfr |
A |
T |
2: 180,236,543 (GRCm39) |
E376V |
probably damaging |
Het |
| Or2l13 |
T |
G |
16: 19,306,378 (GRCm39) |
S263R |
probably benign |
Het |
| Or4a69 |
A |
T |
2: 89,312,855 (GRCm39) |
V208D |
possibly damaging |
Het |
| Or4c107 |
T |
G |
2: 88,789,387 (GRCm39) |
Y192* |
probably null |
Het |
| Or52d1 |
G |
T |
7: 103,755,896 (GRCm39) |
V137F |
possibly damaging |
Het |
| Or5p6 |
C |
T |
7: 107,631,595 (GRCm39) |
|
probably null |
Het |
| Pard3b |
T |
C |
1: 62,384,188 (GRCm39) |
V851A |
probably benign |
Het |
| Pcdhb16 |
A |
T |
18: 37,611,142 (GRCm39) |
Y34F |
probably damaging |
Het |
| Pikfyve |
T |
C |
1: 65,290,825 (GRCm39) |
Y1215H |
probably damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,593,565 (GRCm39) |
V1516E |
probably damaging |
Het |
| Ptprg |
A |
T |
14: 12,190,767 (GRCm38) |
I818F |
probably benign |
Het |
| Ralgapb |
A |
G |
2: 158,304,173 (GRCm39) |
E644G |
possibly damaging |
Het |
| Rbm45 |
A |
G |
2: 76,202,459 (GRCm39) |
I127M |
probably damaging |
Het |
| Rtp2 |
T |
C |
16: 23,746,220 (GRCm39) |
Y157C |
probably damaging |
Het |
| Sf3b3 |
A |
T |
8: 111,564,006 (GRCm39) |
Y329N |
probably damaging |
Het |
| Sfxn1 |
A |
G |
13: 54,239,646 (GRCm39) |
|
probably null |
Het |
| Shkbp1 |
A |
T |
7: 27,044,751 (GRCm39) |
C447S |
probably damaging |
Het |
| Sipa1l3 |
A |
G |
7: 29,021,685 (GRCm39) |
S689P |
possibly damaging |
Het |
| Slc7a8 |
A |
G |
14: 54,970,656 (GRCm39) |
S332P |
probably damaging |
Het |
| Slit1 |
C |
A |
19: 41,596,823 (GRCm39) |
C1092F |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,533,678 (GRCm39) |
I619V |
possibly damaging |
Het |
| Sycp3 |
T |
C |
10: 88,305,454 (GRCm39) |
V185A |
possibly damaging |
Het |
| Taar9 |
A |
T |
10: 23,985,382 (GRCm39) |
N17K |
possibly damaging |
Het |
| Tbkbp1 |
T |
C |
11: 97,039,814 (GRCm39) |
E102G |
probably damaging |
Het |
| Tex44 |
A |
G |
1: 86,354,834 (GRCm39) |
N248D |
probably benign |
Het |
| Tmem63b |
C |
G |
17: 45,989,904 (GRCm39) |
R88P |
possibly damaging |
Het |
| Tnpo1 |
C |
T |
13: 98,986,665 (GRCm39) |
V781I |
probably benign |
Het |
| Tonsl |
C |
T |
15: 76,520,761 (GRCm39) |
|
probably null |
Het |
| Ttc6 |
A |
G |
12: 57,721,463 (GRCm39) |
K984R |
possibly damaging |
Het |
| Usp34 |
A |
G |
11: 23,391,171 (GRCm39) |
E2263G |
probably damaging |
Het |
| Usp8 |
A |
G |
2: 126,596,847 (GRCm39) |
K875E |
probably damaging |
Het |
| Vmn1r223 |
A |
G |
13: 23,434,038 (GRCm39) |
I211V |
possibly damaging |
Het |
| Vmn2r81 |
G |
A |
10: 79,129,496 (GRCm39) |
V796I |
probably damaging |
Het |
| Wdr90 |
A |
T |
17: 26,073,027 (GRCm39) |
V856D |
probably damaging |
Het |
| Wnk2 |
T |
A |
13: 49,235,571 (GRCm39) |
T615S |
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 |
|
|
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 |
|
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'- GCTACAGTGTCTTCATGCAAAGCGG -3'
(R):5'- ACGCACGCTTCCTGGATAATTCTG -3'
Sequencing Primer
(F):5'- AGACCGACAGCTCATTATCC -3'
(R):5'- tcagaaatccgcctgcc -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation