Incidental Mutation 'R2051:Nup205'
| ID |
226418 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup205
|
| Ensembl Gene |
ENSMUSG00000038759 |
| Gene Name |
nucleoporin 205 |
| Synonyms |
3830404O05Rik |
| MMRRC Submission |
040058-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R2051 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
35154551-35224534 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35207451 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1501
(M1501K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043815]
[ENSMUST00000170234]
[ENSMUST00000201374]
|
| AlphaFold |
A0A0J9YUD5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043815
AA Change: M1448K
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000039656
Gene: ENSMUSG00000038759
AA Change: M1448K
| 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 benign
Transcript: ENSMUST00000201374
AA Change: M1501K
PolyPhen 2
Score 0.291 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000144126
Gene: ENSMUSG00000038759
AA Change: M1501K
| 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 |
0.6491 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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 |
|---|
| 1700123K08Rik |
G |
A |
5: 138,562,447 (GRCm39) |
T98M |
probably damaging |
Het |
| 4932414N04Rik |
G |
T |
2: 68,541,392 (GRCm39) |
K10N |
possibly damaging |
Het |
| Aadat |
T |
A |
8: 60,960,173 (GRCm39) |
S40T |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,278,098 (GRCm39) |
I3093V |
probably benign |
Het |
| Acacb |
A |
T |
5: 114,383,951 (GRCm39) |
Q2160L |
probably damaging |
Het |
| Acp6 |
G |
T |
3: 97,075,333 (GRCm39) |
S189I |
probably benign |
Het |
| Actr5 |
A |
T |
2: 158,474,213 (GRCm39) |
M339L |
probably benign |
Het |
| Adcy1 |
A |
T |
11: 7,111,885 (GRCm39) |
K917* |
probably null |
Het |
| Adgrg5 |
C |
T |
8: 95,668,695 (GRCm39) |
R504C |
probably benign |
Het |
| Ago1 |
T |
C |
4: 126,354,246 (GRCm39) |
H188R |
probably benign |
Het |
| Akap9 |
T |
A |
5: 4,025,685 (GRCm39) |
C23* |
probably null |
Het |
| Ank3 |
T |
C |
10: 69,733,920 (GRCm39) |
I728T |
probably damaging |
Het |
| Ankrd50 |
A |
G |
3: 38,508,642 (GRCm39) |
S1242P |
probably benign |
Het |
| Arhgap29 |
G |
A |
3: 121,775,509 (GRCm39) |
R84H |
probably benign |
Het |
| Arhgef10 |
A |
G |
8: 14,995,320 (GRCm39) |
D7G |
probably null |
Het |
| Arid4b |
A |
G |
13: 14,362,230 (GRCm39) |
E898G |
probably damaging |
Het |
| Atrnl1 |
A |
G |
19: 57,680,281 (GRCm39) |
N727S |
probably benign |
Het |
| Baalc |
G |
T |
15: 38,796,629 (GRCm39) |
|
probably benign |
Het |
| Cdc25c |
G |
C |
18: 34,871,292 (GRCm39) |
L275V |
probably damaging |
Het |
| Chpf2 |
G |
T |
5: 24,796,274 (GRCm39) |
V407L |
probably benign |
Het |
| Chrnb3 |
C |
A |
8: 27,876,839 (GRCm39) |
N84K |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,451,221 (GRCm39) |
F2171L |
possibly damaging |
Het |
| Csmd3 |
C |
T |
15: 48,485,389 (GRCm39) |
|
probably null |
Het |
| Cux1 |
T |
A |
5: 136,361,512 (GRCm39) |
Q138L |
probably damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,070,675 (GRCm39) |
N286S |
probably benign |
Het |
| Dclre1b |
T |
C |
3: 103,716,356 (GRCm39) |
S17G |
possibly damaging |
Het |
| Dlgap5 |
A |
G |
14: 47,648,941 (GRCm39) |
S221P |
probably benign |
Het |
| Dnah1 |
T |
G |
14: 31,001,080 (GRCm39) |
T2422P |
probably damaging |
Het |
| Enpp1 |
A |
G |
10: 24,587,702 (GRCm39) |
|
probably null |
Het |
| Erbb2 |
T |
C |
11: 98,310,998 (GRCm39) |
C53R |
probably damaging |
Het |
| Exoc8 |
A |
G |
8: 125,622,219 (GRCm39) |
V716A |
probably benign |
Het |
| Fam193a |
T |
A |
5: 34,619,494 (GRCm39) |
D766E |
probably benign |
Het |
| Fbxo43 |
C |
A |
15: 36,162,278 (GRCm39) |
G310W |
probably damaging |
Het |
| Fcgbp |
C |
T |
7: 27,819,785 (GRCm39) |
T2504I |
probably damaging |
Het |
| Fnbp4 |
C |
T |
2: 90,587,876 (GRCm39) |
P418L |
probably benign |
Het |
| Gjd2 |
T |
C |
2: 113,841,539 (GRCm39) |
T313A |
probably damaging |
Het |
| Gm12695 |
T |
A |
4: 96,658,008 (GRCm39) |
R54W |
probably damaging |
Het |
| Gm128 |
T |
C |
3: 95,148,051 (GRCm39) |
D81G |
possibly damaging |
Het |
| Gm21834 |
A |
G |
17: 58,048,763 (GRCm39) |
V151A |
possibly damaging |
Het |
| Grhl1 |
T |
A |
12: 24,636,151 (GRCm39) |
|
probably null |
Het |
| Hcn1 |
C |
T |
13: 118,112,619 (GRCm39) |
T861I |
probably damaging |
Het |
| Herc6 |
C |
A |
6: 57,602,961 (GRCm39) |
Q547K |
probably benign |
Het |
| Iqgap3 |
T |
C |
3: 88,027,474 (GRCm39) |
L699P |
probably damaging |
Het |
| Kank4 |
T |
C |
4: 98,668,339 (GRCm39) |
D36G |
probably damaging |
Het |
| Kcnk5 |
A |
T |
14: 20,192,277 (GRCm39) |
S295T |
probably damaging |
Het |
| Krt18 |
T |
C |
15: 101,937,935 (GRCm39) |
V144A |
probably benign |
Het |
| Krtap9-5 |
A |
G |
11: 99,840,030 (GRCm39) |
I244V |
unknown |
Het |
| Leng1 |
T |
G |
7: 3,668,400 (GRCm39) |
N16T |
probably damaging |
Het |
| Lss |
A |
G |
10: 76,367,712 (GRCm39) |
K15E |
possibly damaging |
Het |
| Mastl |
G |
T |
2: 23,022,836 (GRCm39) |
A629E |
possibly damaging |
Het |
| Mavs |
G |
C |
2: 131,082,370 (GRCm39) |
A85P |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,660,536 (GRCm39) |
D678G |
probably damaging |
Het |
| Nsd3 |
T |
G |
8: 26,181,116 (GRCm39) |
S906A |
probably damaging |
Het |
| Nsfl1c |
A |
G |
2: 151,345,002 (GRCm39) |
N118S |
probably damaging |
Het |
| Or4p7 |
C |
T |
2: 88,221,882 (GRCm39) |
T97M |
possibly damaging |
Het |
| Or6n1 |
T |
A |
1: 173,916,785 (GRCm39) |
Y60N |
possibly damaging |
Het |
| Pax8 |
A |
G |
2: 24,326,520 (GRCm39) |
S281P |
probably benign |
Het |
| Pds5b |
T |
G |
5: 150,671,655 (GRCm39) |
I433R |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,715,720 (GRCm39) |
N117D |
probably damaging |
Het |
| Pfkm |
A |
T |
15: 98,029,573 (GRCm39) |
D728V |
probably benign |
Het |
| Phkb |
T |
C |
8: 86,776,450 (GRCm39) |
|
probably null |
Het |
| Pkp4 |
T |
C |
2: 59,165,248 (GRCm39) |
V704A |
probably benign |
Het |
| Ppfia2 |
T |
A |
10: 106,673,160 (GRCm39) |
S501T |
probably damaging |
Het |
| Ptpru |
T |
C |
4: 131,546,398 (GRCm39) |
E284G |
possibly damaging |
Het |
| Ror1 |
C |
T |
4: 100,265,065 (GRCm39) |
R180* |
probably null |
Het |
| Ryr3 |
T |
A |
2: 112,586,986 (GRCm39) |
Y2666F |
probably damaging |
Het |
| Sec23a |
C |
A |
12: 59,037,754 (GRCm39) |
|
probably null |
Het |
| Sertad3 |
C |
T |
7: 27,175,694 (GRCm39) |
Q43* |
probably null |
Het |
| Setd2 |
C |
T |
9: 110,379,958 (GRCm39) |
H1258Y |
probably benign |
Het |
| Sharpin |
A |
G |
15: 76,232,407 (GRCm39) |
S177P |
probably benign |
Het |
| Skap1 |
T |
C |
11: 96,432,289 (GRCm39) |
F86S |
possibly damaging |
Het |
| Slc8a2 |
T |
C |
7: 15,874,940 (GRCm39) |
I396T |
probably damaging |
Het |
| Slc9a2 |
T |
C |
1: 40,765,597 (GRCm39) |
F329S |
probably damaging |
Het |
| Slx4ip |
C |
T |
2: 136,908,125 (GRCm39) |
L161F |
possibly damaging |
Het |
| Sox4 |
A |
G |
13: 29,136,764 (GRCm39) |
S81P |
probably damaging |
Het |
| Ssc4d |
G |
T |
5: 135,999,118 (GRCm39) |
S28R |
probably benign |
Het |
| St8sia2 |
C |
T |
7: 73,592,950 (GRCm39) |
G369S |
possibly damaging |
Het |
| Swt1 |
T |
C |
1: 151,248,081 (GRCm39) |
Y836C |
probably damaging |
Het |
| Taar7d |
A |
G |
10: 23,903,904 (GRCm39) |
D262G |
probably benign |
Het |
| Taar8b |
T |
A |
10: 23,967,212 (GRCm39) |
L327F |
probably benign |
Het |
| Tars1 |
A |
T |
15: 11,393,280 (GRCm39) |
L138* |
probably null |
Het |
| Tbcd |
A |
T |
11: 121,344,496 (GRCm39) |
D75V |
probably damaging |
Het |
| Tesc |
A |
G |
5: 118,184,394 (GRCm39) |
I25V |
probably damaging |
Het |
| Tmem132e |
G |
T |
11: 82,331,264 (GRCm39) |
S407I |
probably damaging |
Het |
| Tmem50b |
C |
A |
16: 91,377,180 (GRCm39) |
A95S |
possibly damaging |
Het |
| Tnr |
T |
C |
1: 159,719,603 (GRCm39) |
I960T |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tpcn1 |
G |
C |
5: 120,681,453 (GRCm39) |
P532A |
probably damaging |
Het |
| Tpsb2 |
T |
C |
17: 25,585,539 (GRCm39) |
|
probably benign |
Het |
| Triobp |
C |
A |
15: 78,888,740 (GRCm39) |
H1948Q |
probably damaging |
Het |
| Tshb |
T |
C |
3: 102,684,857 (GRCm39) |
I116V |
probably benign |
Het |
| Ttc13 |
A |
T |
8: 125,398,950 (GRCm39) |
|
probably null |
Het |
| Usp34 |
A |
T |
11: 23,414,468 (GRCm39) |
T2804S |
probably damaging |
Het |
| Vmn2r18 |
A |
T |
5: 151,486,016 (GRCm39) |
C493S |
possibly damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,024,766 (GRCm39) |
K605R |
possibly damaging |
Het |
| Vmn2r37 |
T |
C |
7: 9,220,792 (GRCm39) |
Y357C |
probably damaging |
Het |
| Zc3h6 |
T |
G |
2: 128,857,538 (GRCm39) |
S686A |
possibly damaging |
Het |
| Zfp608 |
G |
A |
18: 55,121,386 (GRCm39) |
P67L |
probably benign |
Het |
| Zyg11a |
T |
C |
4: 108,049,244 (GRCm39) |
|
probably benign |
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 |
|
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'- GCCATACATTGTGTTATTAGTGTGC -3'
(R):5'- AGGAGAAATTCTGAGTTAAGATGCC -3'
Sequencing Primer
(F):5'- TTATTAGTGTGCATGTGTGACAC -3'
(R):5'- GCAGAACCTACAAATCATAGTAGATG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation