Incidental Mutation 'R4849:Nup205'
| ID |
373384 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup205
|
| Ensembl Gene |
ENSMUSG00000038759 |
| Gene Name |
nucleoporin 205 |
| Synonyms |
3830404O05Rik |
| MMRRC Submission |
042461-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R4849 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
35154551-35224534 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35207505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 1519
(N1519S)
|
| 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: N1466S
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000039656
Gene: ENSMUSG00000038759
AA Change: N1466S
| 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 |
possibly damaging
Transcript: ENSMUST00000201374
AA Change: N1519S
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144126
Gene: ENSMUSG00000038759
AA Change: N1519S
| 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 |
0.3543 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
98% (90/92) |
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp7 |
G |
T |
7: 28,314,877 (GRCm39) |
R239S |
possibly damaging |
Het |
| Angptl1 |
C |
A |
1: 156,684,735 (GRCm39) |
N301K |
probably benign |
Het |
| Ankrd26 |
T |
A |
6: 118,509,257 (GRCm39) |
T603S |
probably benign |
Het |
| App |
T |
C |
16: 84,853,322 (GRCm39) |
D252G |
unknown |
Het |
| Atxn3 |
A |
G |
12: 101,900,627 (GRCm39) |
S219P |
probably benign |
Het |
| Birc6 |
T |
C |
17: 74,954,383 (GRCm39) |
S3397P |
probably damaging |
Het |
| Bivm |
A |
G |
1: 44,182,033 (GRCm39) |
I414V |
possibly damaging |
Het |
| Cemip |
A |
G |
7: 83,584,945 (GRCm39) |
F1324L |
possibly damaging |
Het |
| Ckap5 |
T |
A |
2: 91,445,616 (GRCm39) |
N1724K |
probably damaging |
Het |
| Corin |
T |
A |
5: 72,460,178 (GRCm39) |
M1035L |
probably damaging |
Het |
| Ctnna3 |
T |
C |
10: 64,709,094 (GRCm39) |
I711T |
probably damaging |
Het |
| Cts6 |
A |
T |
13: 61,349,415 (GRCm39) |
W98R |
probably null |
Het |
| Dip2a |
A |
G |
10: 76,130,367 (GRCm39) |
S580P |
probably damaging |
Het |
| Dock6 |
A |
G |
9: 21,723,068 (GRCm39) |
|
probably null |
Het |
| Dusp15 |
T |
A |
2: 152,791,002 (GRCm39) |
T32S |
probably damaging |
Het |
| Eogt |
T |
A |
6: 97,093,016 (GRCm39) |
N387I |
probably damaging |
Het |
| Evx2 |
T |
C |
2: 74,489,675 (GRCm39) |
D29G |
probably benign |
Het |
| Fat1 |
A |
G |
8: 45,466,007 (GRCm39) |
N1422S |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,201,463 (GRCm39) |
D537G |
probably damaging |
Het |
| Fat3 |
A |
C |
9: 16,289,244 (GRCm39) |
I93S |
probably benign |
Het |
| Fem1b |
T |
C |
9: 62,704,576 (GRCm39) |
E228G |
probably damaging |
Het |
| Fh1 |
A |
G |
1: 175,448,072 (GRCm39) |
T25A |
probably benign |
Het |
| Fndc3b |
A |
G |
3: 27,514,097 (GRCm39) |
W695R |
probably damaging |
Het |
| Gaa |
G |
A |
11: 119,163,813 (GRCm39) |
V222I |
possibly damaging |
Het |
| Ggnbp1 |
T |
C |
17: 27,251,947 (GRCm39) |
|
probably null |
Het |
| Gipc1 |
A |
G |
8: 84,388,756 (GRCm39) |
Y154C |
probably benign |
Het |
| Gm5356 |
G |
T |
8: 89,913,670 (GRCm39) |
|
noncoding transcript |
Het |
| Gnl1 |
T |
A |
17: 36,298,603 (GRCm39) |
|
probably null |
Het |
| Gpcpd1 |
C |
T |
2: 132,376,019 (GRCm39) |
G605R |
probably damaging |
Het |
| Guca1a |
T |
C |
17: 47,705,662 (GRCm39) |
T177A |
possibly damaging |
Het |
| Ifit1bl1 |
T |
C |
19: 34,572,076 (GRCm39) |
E127G |
probably damaging |
Het |
| Ift81 |
A |
T |
5: 122,729,282 (GRCm39) |
I350N |
probably damaging |
Het |
| Ikbke |
GCC |
G |
1: 131,203,004 (GRCm39) |
|
probably null |
Het |
| Ing4 |
A |
G |
6: 125,020,946 (GRCm39) |
R23G |
probably damaging |
Het |
| Ins1 |
A |
G |
19: 52,253,384 (GRCm39) |
N108S |
probably damaging |
Het |
| Iqce |
A |
T |
5: 140,679,214 (GRCm39) |
M72K |
possibly damaging |
Het |
| Itga3 |
C |
A |
11: 94,967,097 (GRCm39) |
M22I |
probably benign |
Het |
| Kctd18 |
T |
C |
1: 58,001,152 (GRCm39) |
E201G |
probably damaging |
Het |
| Klc1 |
A |
G |
12: 111,748,129 (GRCm39) |
N344S |
probably damaging |
Het |
| Klrb1f |
A |
T |
6: 129,033,347 (GRCm39) |
I192F |
probably damaging |
Het |
| Klrg2 |
A |
T |
6: 38,607,214 (GRCm39) |
|
probably null |
Het |
| Kntc1 |
A |
C |
5: 123,897,128 (GRCm39) |
I164L |
probably benign |
Het |
| Ltf |
T |
A |
9: 110,855,058 (GRCm39) |
I357K |
probably benign |
Het |
| Mr1 |
T |
C |
1: 155,006,436 (GRCm39) |
T304A |
probably benign |
Het |
| Msh6 |
C |
T |
17: 88,290,947 (GRCm39) |
R178C |
possibly damaging |
Het |
| Mtch1 |
T |
C |
17: 29,566,565 (GRCm39) |
D66G |
probably benign |
Het |
| Mtmr7 |
A |
G |
8: 41,062,040 (GRCm39) |
V15A |
probably benign |
Het |
| Mtss2 |
A |
T |
8: 111,452,875 (GRCm39) |
H40L |
possibly damaging |
Het |
| Mxra8 |
A |
G |
4: 155,925,331 (GRCm39) |
|
probably benign |
Het |
| Myo3b |
T |
C |
2: 70,075,253 (GRCm39) |
L535P |
probably damaging |
Het |
| Neurl2 |
T |
A |
2: 164,674,739 (GRCm39) |
|
probably null |
Het |
| Nfia |
A |
C |
4: 97,970,048 (GRCm39) |
T503P |
probably damaging |
Het |
| Noa1 |
T |
C |
5: 77,454,179 (GRCm39) |
E487G |
possibly damaging |
Het |
| Nuak1 |
A |
T |
10: 84,211,143 (GRCm39) |
V315D |
probably damaging |
Het |
| Or10x1 |
T |
A |
1: 174,196,966 (GRCm39) |
I161K |
probably damaging |
Het |
| Or1l4b |
T |
C |
2: 37,036,266 (GRCm39) |
L14P |
probably damaging |
Het |
| Or1o1 |
T |
C |
17: 37,716,589 (GRCm39) |
V50A |
probably benign |
Het |
| Or51f1e |
A |
G |
7: 102,747,526 (GRCm39) |
I193V |
possibly damaging |
Het |
| Or6b13 |
G |
T |
7: 139,782,340 (GRCm39) |
C114* |
probably null |
Het |
| Or9s18 |
G |
A |
13: 65,300,493 (GRCm39) |
V152M |
possibly damaging |
Het |
| Peli1 |
T |
A |
11: 21,098,528 (GRCm39) |
|
probably benign |
Het |
| Ppp6r1 |
A |
G |
7: 4,646,206 (GRCm39) |
L175P |
probably damaging |
Het |
| Prkcd |
A |
G |
14: 30,321,700 (GRCm39) |
L498P |
probably damaging |
Het |
| Prss30 |
T |
A |
17: 24,191,769 (GRCm39) |
I251F |
probably benign |
Het |
| Psme3 |
A |
T |
11: 101,207,907 (GRCm39) |
N21Y |
probably benign |
Het |
| Ptpra |
T |
C |
2: 130,374,081 (GRCm39) |
Y271H |
probably damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,745,588 (GRCm39) |
N1303Y |
probably damaging |
Het |
| Rims4 |
T |
C |
2: 163,707,463 (GRCm39) |
I121V |
probably benign |
Het |
| Rnf123 |
A |
T |
9: 107,933,290 (GRCm39) |
L1149Q |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,738,807 (GRCm39) |
L593F |
probably damaging |
Het |
| Sec23b |
T |
C |
2: 144,427,519 (GRCm39) |
F582S |
probably damaging |
Het |
| Sgpl1 |
T |
C |
10: 60,940,297 (GRCm39) |
K335R |
probably benign |
Het |
| Sirpa |
C |
T |
2: 129,451,163 (GRCm39) |
T141I |
probably damaging |
Het |
| Slit1 |
G |
T |
19: 41,637,983 (GRCm39) |
A270E |
probably benign |
Het |
| Snap91 |
T |
C |
9: 86,674,613 (GRCm39) |
T533A |
possibly damaging |
Het |
| Sphkap |
T |
G |
1: 83,255,105 (GRCm39) |
E881D |
probably benign |
Het |
| Sptan1 |
C |
A |
2: 29,901,054 (GRCm39) |
R1407S |
probably damaging |
Het |
| Tfdp1 |
A |
G |
8: 13,423,895 (GRCm39) |
T353A |
probably benign |
Het |
| Ttyh1 |
A |
G |
7: 4,125,533 (GRCm39) |
I62V |
possibly damaging |
Het |
| Vwde |
A |
T |
6: 13,196,047 (GRCm39) |
V326D |
possibly damaging |
Het |
| Zfp398 |
T |
C |
6: 47,836,446 (GRCm39) |
I82T |
possibly damaging |
Het |
| Zp1 |
A |
G |
19: 10,896,198 (GRCm39) |
Y176H |
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 |
|
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'- GTCTGGACTCATTGATCTGGTC -3'
(R):5'- AGGAGAAATTCTGAGTTAAGATGCCAC -3'
Sequencing Primer
(F):5'- ACTCATTGATCTGGTCTTTTGTGTAC -3'
(R):5'- GCAGAACCTACAAATCATAGTAGATG -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation