Incidental Mutation 'R7310:Nup205'
| ID |
567498 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup205
|
| Ensembl Gene |
ENSMUSG00000038759 |
| Gene Name |
nucleoporin 205 |
| Synonyms |
3830404O05Rik |
| MMRRC Submission |
045409-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R7310 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
35154551-35224534 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35202904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1370
(D1370E)
|
| 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: D1317E
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000039656
Gene: ENSMUSG00000038759
AA Change: D1317E
| 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: D1370E
PolyPhen 2
Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144126
Gene: ENSMUSG00000038759
AA Change: D1370E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
A |
T |
11: 58,771,094 (GRCm39) |
Q192L |
possibly damaging |
Het |
| Abat |
G |
A |
16: 8,423,457 (GRCm39) |
R250Q |
probably null |
Het |
| Abcg3 |
A |
C |
5: 105,114,632 (GRCm39) |
F295C |
probably benign |
Het |
| Abl1 |
T |
C |
2: 31,690,604 (GRCm39) |
S708P |
possibly damaging |
Het |
| Acap2 |
A |
T |
16: 30,926,972 (GRCm39) |
Y489* |
probably null |
Het |
| Akr1c6 |
A |
T |
13: 4,486,354 (GRCm39) |
M54L |
probably benign |
Het |
| Arhgap5 |
A |
T |
12: 52,589,270 (GRCm39) |
|
probably null |
Het |
| Asap1 |
A |
G |
15: 63,971,379 (GRCm39) |
|
probably null |
Het |
| Atrnl1 |
A |
T |
19: 57,630,856 (GRCm39) |
N208Y |
possibly damaging |
Het |
| BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,795,448 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
GTTCTGTGGTCACTG |
GTTCTGTGGTCACTGATTCTGTGGTCACTG |
3: 95,795,485 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
G |
GGGGTCACTGGTTCTT |
3: 95,795,460 (GRCm39) |
|
probably benign |
Het |
| BC028528 |
ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC |
ACTGGTTCTGTGGTCCCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC |
3: 95,795,451 (GRCm39) |
|
probably benign |
Het |
| Bmi1 |
T |
C |
2: 18,689,230 (GRCm39) |
S305P |
probably benign |
Het |
| Bpifc |
T |
A |
10: 85,798,891 (GRCm39) |
I431F |
probably damaging |
Het |
| C130050O18Rik |
A |
T |
5: 139,400,993 (GRCm39) |
M349L |
probably benign |
Het |
| Cacna2d1 |
A |
T |
5: 16,519,914 (GRCm39) |
D428V |
probably damaging |
Het |
| Card14 |
A |
C |
11: 119,217,005 (GRCm39) |
Q363P |
probably null |
Het |
| Cdca2 |
A |
T |
14: 67,950,673 (GRCm39) |
L86H |
probably damaging |
Het |
| Cdh22 |
G |
T |
2: 164,954,214 (GRCm39) |
S769* |
probably null |
Het |
| Cdhr17 |
A |
G |
5: 17,075,246 (GRCm39) |
Y872C |
possibly damaging |
Het |
| Cep164 |
T |
C |
9: 45,686,664 (GRCm39) |
E690G |
probably damaging |
Het |
| Cluh |
A |
G |
11: 74,560,285 (GRCm39) |
H1304R |
probably benign |
Het |
| Daxx |
C |
A |
17: 34,129,435 (GRCm39) |
D5E |
possibly damaging |
Het |
| Dnah7c |
A |
G |
1: 46,636,127 (GRCm39) |
M1117V |
possibly damaging |
Het |
| Entpd3 |
T |
A |
9: 120,389,821 (GRCm39) |
|
probably null |
Het |
| Esr1 |
G |
A |
10: 4,889,259 (GRCm39) |
A386T |
probably damaging |
Het |
| Etv5 |
G |
A |
16: 22,220,487 (GRCm39) |
P300L |
probably benign |
Het |
| Exoc3l |
A |
T |
8: 106,020,340 (GRCm39) |
L195Q |
probably damaging |
Het |
| Exog |
T |
C |
9: 119,274,069 (GRCm39) |
L18P |
unknown |
Het |
| Fgfr1 |
T |
A |
8: 26,052,331 (GRCm39) |
V219D |
probably benign |
Het |
| Gna14 |
A |
T |
19: 16,511,113 (GRCm39) |
Q54L |
|
Het |
| Gnb5 |
T |
C |
9: 75,221,570 (GRCm39) |
L48P |
probably benign |
Het |
| Gpbp1 |
A |
G |
13: 111,589,924 (GRCm39) |
I57T |
probably benign |
Het |
| Hnrnpa1 |
T |
A |
15: 103,149,884 (GRCm39) |
D48E |
probably damaging |
Het |
| Hrc |
T |
A |
7: 44,985,227 (GRCm39) |
L126* |
probably null |
Het |
| Hspa8 |
T |
G |
9: 40,714,704 (GRCm39) |
D333E |
probably benign |
Het |
| Igsf3 |
T |
A |
3: 101,338,895 (GRCm39) |
V403D |
probably benign |
Het |
| Itga10 |
C |
A |
3: 96,555,475 (GRCm39) |
A143D |
probably damaging |
Het |
| Kdr |
T |
A |
5: 76,104,985 (GRCm39) |
I1082F |
probably damaging |
Het |
| Klk1b11 |
A |
T |
7: 43,428,254 (GRCm39) |
I242F |
probably damaging |
Het |
| Kng2 |
G |
A |
16: 22,806,522 (GRCm39) |
T559I |
probably benign |
Het |
| Map1b |
G |
A |
13: 99,570,163 (GRCm39) |
P853S |
unknown |
Het |
| Mmp13 |
T |
C |
9: 7,280,880 (GRCm39) |
I421T |
possibly damaging |
Het |
| Mpeg1 |
A |
T |
19: 12,439,615 (GRCm39) |
T358S |
probably damaging |
Het |
| Msantd5l |
A |
C |
11: 51,145,474 (GRCm39) |
W38G |
probably damaging |
Het |
| Mttp |
T |
C |
3: 137,800,783 (GRCm39) |
D759G |
probably damaging |
Het |
| Mup17 |
T |
A |
4: 61,511,929 (GRCm39) |
Y115F |
possibly damaging |
Het |
| Myo1a |
G |
T |
10: 127,541,697 (GRCm39) |
A79S |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,778,436 (GRCm39) |
N1397K |
probably benign |
Het |
| Nadk2 |
T |
C |
15: 9,103,469 (GRCm39) |
|
probably null |
Het |
| Ncf1 |
A |
T |
5: 134,250,615 (GRCm39) |
S402T |
probably benign |
Het |
| Ndufb10 |
T |
C |
17: 24,941,188 (GRCm39) |
D145G |
probably damaging |
Het |
| Nlgn2 |
G |
A |
11: 69,721,409 (GRCm39) |
T163M |
possibly damaging |
Het |
| Nol4 |
A |
T |
18: 22,903,801 (GRCm39) |
H172Q |
|
Het |
| Or1e32 |
A |
C |
11: 73,705,112 (GRCm39) |
N265K |
probably damaging |
Het |
| Or51ab3 |
T |
A |
7: 103,201,892 (GRCm39) |
I300N |
probably damaging |
Het |
| Or5b97 |
A |
G |
19: 12,878,637 (GRCm39) |
F169S |
probably damaging |
Het |
| Pkd1l2 |
A |
G |
8: 117,750,773 (GRCm39) |
V1746A |
probably benign |
Het |
| Plin2 |
T |
A |
4: 86,586,628 (GRCm39) |
I68F |
probably benign |
Het |
| Proc |
A |
T |
18: 32,268,952 (GRCm39) |
M11K |
probably benign |
Het |
| Rif1 |
T |
C |
2: 51,995,631 (GRCm39) |
V950A |
probably benign |
Het |
| Rmc1 |
A |
G |
18: 12,317,972 (GRCm39) |
K362E |
probably benign |
Het |
| Rnf208 |
C |
A |
2: 25,133,587 (GRCm39) |
P94T |
probably damaging |
Het |
| Rundc3b |
A |
T |
5: 8,571,011 (GRCm39) |
Y269* |
probably null |
Het |
| Senp7 |
T |
C |
16: 56,006,445 (GRCm39) |
V950A |
probably benign |
Het |
| Sipa1l1 |
T |
C |
12: 82,419,269 (GRCm39) |
V649A |
probably damaging |
Het |
| Sipa1l3 |
G |
T |
7: 29,099,121 (GRCm39) |
H383N |
probably benign |
Het |
| Slc12a5 |
G |
A |
2: 164,834,360 (GRCm39) |
V794M |
probably damaging |
Het |
| Slc7a7 |
A |
G |
14: 54,616,482 (GRCm39) |
I200T |
probably damaging |
Het |
| Spdye4b |
A |
C |
5: 143,188,103 (GRCm39) |
I199L |
probably damaging |
Het |
| Styxl2 |
G |
A |
1: 165,926,300 (GRCm39) |
T1104I |
possibly damaging |
Het |
| Tle4 |
A |
T |
19: 14,495,155 (GRCm39) |
H191Q |
probably benign |
Het |
| Tnfsf13b |
C |
A |
8: 10,081,651 (GRCm39) |
S271* |
probably null |
Het |
| Tnks2 |
G |
A |
19: 36,856,839 (GRCm39) |
V855I |
probably benign |
Het |
| Trank1 |
T |
C |
9: 111,196,194 (GRCm39) |
L1406S |
probably damaging |
Het |
| Trhde |
T |
C |
10: 114,636,478 (GRCm39) |
E243G |
probably damaging |
Het |
| Trim25 |
A |
T |
11: 88,906,608 (GRCm39) |
N448I |
probably benign |
Het |
| Trim31 |
T |
A |
17: 37,218,194 (GRCm39) |
M308K |
probably benign |
Het |
| Ugt2b36 |
A |
T |
5: 87,214,138 (GRCm39) |
V502E |
possibly damaging |
Het |
| Usp10 |
A |
C |
8: 120,668,344 (GRCm39) |
D215A |
possibly damaging |
Het |
| Usp33 |
T |
G |
3: 152,066,026 (GRCm39) |
L102* |
probably null |
Het |
| Wdr12 |
A |
T |
1: 60,121,734 (GRCm39) |
C272* |
probably null |
Het |
| Xndc1 |
A |
C |
7: 101,727,938 (GRCm39) |
|
probably null |
Het |
| Zkscan2 |
T |
C |
7: 123,089,276 (GRCm39) |
I332V |
possibly damaging |
Het |
| Zswim5 |
A |
T |
4: 116,841,885 (GRCm39) |
T822S |
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 |
|
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 |
|
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'- GCACTATTCTTCAGTATGTTGTAGG -3'
(R):5'- GCACGCTTCCTGGATAATTCTG -3'
Sequencing Primer
(F):5'- TGTTGTAGGAAGAAACAAGCTGCTAC -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation