Incidental Mutation 'R9261:Nup205'
| ID |
702238 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup205
|
| Ensembl Gene |
ENSMUSG00000038759 |
| Gene Name |
nucleoporin 205 |
| Synonyms |
3830404O05Rik |
| MMRRC Submission |
068990-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R9261 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
35154551-35224534 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35176792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 596
(E596G)
|
| 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: E543G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000039656
Gene: ENSMUSG00000038759
AA Change: E543G
| 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: E596G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000144126
Gene: ENSMUSG00000038759
AA Change: E596G
| 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: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (73/73) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
A |
G |
9: 90,075,397 (GRCm39) |
E1043G |
probably benign |
Het |
| Agps |
T |
G |
2: 75,684,850 (GRCm39) |
|
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,993,503 (GRCm39) |
E4929G |
possibly damaging |
Het |
| Arl6ip4 |
T |
A |
5: 124,256,146 (GRCm39) |
|
probably benign |
Het |
| Cdhr17 |
T |
C |
5: 17,006,547 (GRCm39) |
L88P |
possibly damaging |
Het |
| Clca3a2 |
G |
T |
3: 144,525,158 (GRCm39) |
H25N |
probably benign |
Het |
| Cubn |
C |
T |
2: 13,283,262 (GRCm39) |
D3559N |
probably damaging |
Het |
| Dmac2 |
T |
A |
7: 25,320,345 (GRCm39) |
W15R |
probably benign |
Het |
| Dzank1 |
T |
C |
2: 144,355,344 (GRCm39) |
E117G |
probably benign |
Het |
| Eml2 |
A |
G |
7: 18,913,743 (GRCm39) |
T187A |
probably benign |
Het |
| Eml5 |
A |
G |
12: 98,822,287 (GRCm39) |
V747A |
probably damaging |
Het |
| Esr1 |
T |
A |
10: 4,919,271 (GRCm39) |
S454T |
probably damaging |
Het |
| Evc2 |
A |
G |
5: 37,537,895 (GRCm39) |
T528A |
probably benign |
Het |
| Fbxo5 |
T |
C |
10: 5,752,325 (GRCm39) |
N96S |
probably damaging |
Het |
| Fcnb |
T |
C |
2: 27,969,636 (GRCm39) |
T144A |
probably damaging |
Het |
| Fgf20 |
T |
A |
8: 40,739,951 (GRCm39) |
|
probably benign |
Het |
| Gcg |
T |
C |
2: 62,306,408 (GRCm39) |
|
probably benign |
Het |
| Gfm2 |
T |
A |
13: 97,299,369 (GRCm39) |
Y363* |
probably null |
Het |
| Grwd1 |
C |
T |
7: 45,475,381 (GRCm39) |
R387Q |
probably benign |
Het |
| Gstt2 |
C |
T |
10: 75,669,511 (GRCm39) |
D59N |
possibly damaging |
Het |
| Herc1 |
A |
G |
9: 66,412,129 (GRCm39) |
N4783S |
probably damaging |
Het |
| Hydin |
C |
A |
8: 110,994,047 (GRCm39) |
A27E |
unknown |
Het |
| Iigp1c |
T |
A |
18: 60,353,820 (GRCm39) |
|
probably benign |
Het |
| Ikbip |
A |
G |
10: 90,932,249 (GRCm39) |
T298A |
possibly damaging |
Het |
| Il1rap |
A |
G |
16: 26,541,724 (GRCm39) |
N655S |
possibly damaging |
Het |
| Kif21b |
C |
T |
1: 136,077,162 (GRCm39) |
R395C |
probably damaging |
Het |
| Kif3a |
ATTGACG |
A |
11: 53,484,248 (GRCm39) |
|
probably benign |
Het |
| Klhl40 |
A |
G |
9: 121,609,002 (GRCm39) |
D389G |
probably benign |
Het |
| Ly6g |
A |
G |
15: 75,030,529 (GRCm39) |
T116A |
probably damaging |
Het |
| Mast2 |
A |
G |
4: 116,165,900 (GRCm39) |
L1276P |
probably damaging |
Het |
| Mitf |
A |
G |
6: 97,990,704 (GRCm39) |
Q369R |
possibly damaging |
Het |
| Mtus2 |
T |
A |
5: 148,243,453 (GRCm39) |
Y192* |
probably null |
Het |
| Nav1 |
T |
A |
1: 135,388,095 (GRCm39) |
E1109D |
unknown |
Het |
| Nav2 |
A |
G |
7: 49,246,904 (GRCm39) |
E2143G |
probably damaging |
Het |
| Nedd4 |
A |
G |
9: 72,584,656 (GRCm39) |
Q119R |
possibly damaging |
Het |
| Nek9 |
A |
G |
12: 85,359,841 (GRCm39) |
V537A |
probably damaging |
Het |
| Notum |
G |
T |
11: 120,550,974 (GRCm39) |
T64K |
|
Het |
| Nudcd2 |
A |
G |
11: 40,630,026 (GRCm39) |
N144S |
probably damaging |
Het |
| Olfml1 |
T |
A |
7: 107,167,007 (GRCm39) |
L12Q |
possibly damaging |
Het |
| Or4f60 |
T |
A |
2: 111,902,718 (GRCm39) |
D70V |
probably damaging |
Het |
| Or51k1 |
C |
T |
7: 103,661,336 (GRCm39) |
C191Y |
probably damaging |
Het |
| Or52n2c |
A |
T |
7: 104,574,305 (GRCm39) |
M222K |
probably benign |
Het |
| Or56b2 |
T |
A |
7: 104,337,260 (GRCm39) |
F13I |
probably benign |
Het |
| Or6b13 |
A |
G |
7: 139,782,563 (GRCm39) |
V40A |
probably benign |
Het |
| Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
| Padi4 |
T |
C |
4: 140,479,926 (GRCm39) |
N409S |
probably damaging |
Het |
| Pam |
T |
A |
1: 97,903,620 (GRCm39) |
T38S |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,208,868 (GRCm39) |
I1382V |
possibly damaging |
Het |
| Pla2g12a |
A |
T |
3: 129,684,080 (GRCm39) |
Q153L |
possibly damaging |
Het |
| Pla2g4e |
T |
A |
2: 120,019,910 (GRCm39) |
H180L |
probably benign |
Het |
| Pou2af2 |
T |
A |
9: 51,202,998 (GRCm39) |
H52L |
probably benign |
Het |
| Pprc1 |
A |
G |
19: 46,050,868 (GRCm39) |
T169A |
unknown |
Het |
| Prrc2c |
A |
G |
1: 162,505,622 (GRCm39) |
I2592T |
possibly damaging |
Het |
| Ptchd3 |
T |
A |
11: 121,722,956 (GRCm39) |
I348N |
probably damaging |
Het |
| Ralgps1 |
T |
C |
2: 33,226,571 (GRCm39) |
D40G |
probably damaging |
Het |
| Rbm19 |
T |
C |
5: 120,256,810 (GRCm39) |
F41S |
probably damaging |
Het |
| Rbsn |
T |
C |
6: 92,166,797 (GRCm39) |
M616V |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,751,813 (GRCm39) |
M3660K |
possibly damaging |
Het |
| Sidt2 |
A |
T |
9: 45,861,396 (GRCm39) |
V246E |
probably damaging |
Het |
| Slc4a4 |
T |
C |
5: 89,347,568 (GRCm39) |
W770R |
probably damaging |
Het |
| Spata31d1c |
T |
A |
13: 65,184,680 (GRCm39) |
S741T |
probably damaging |
Het |
| Stk19 |
T |
G |
17: 35,051,432 (GRCm39) |
Y108S |
possibly damaging |
Het |
| Stox2 |
T |
C |
8: 47,645,441 (GRCm39) |
E673G |
possibly damaging |
Het |
| Tax1bp1 |
T |
A |
6: 52,714,116 (GRCm39) |
C271S |
probably benign |
Het |
| Tmem161a |
C |
A |
8: 70,631,572 (GRCm39) |
R167S |
probably damaging |
Het |
| Tnrc6c |
T |
A |
11: 117,605,105 (GRCm39) |
V80E |
probably damaging |
Het |
| Trpa1 |
G |
A |
1: 14,963,465 (GRCm39) |
H586Y |
probably damaging |
Het |
| Tsr1 |
A |
G |
11: 74,799,056 (GRCm39) |
T746A |
probably damaging |
Het |
| Uqcrfs1 |
T |
C |
13: 30,724,794 (GRCm39) |
I249V |
probably damaging |
Het |
| Vmn2r84 |
C |
A |
10: 130,229,976 (GRCm39) |
E45D |
probably benign |
Het |
| Vnn3 |
A |
G |
10: 23,741,607 (GRCm39) |
E304G |
probably damaging |
Het |
| Zfp541 |
G |
A |
7: 15,816,029 (GRCm39) |
V839M |
possibly damaging |
Het |
| Zfp62 |
A |
G |
11: 49,108,350 (GRCm39) |
K814E |
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 |
|
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 |
|
|
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'- TATCCACCGTGACAGGTTGGAG -3'
(R):5'- AAGCAATCAGTCCATCTTGCTC -3'
Sequencing Primer
(F):5'- CACTGCTCATTTAGAACAGATTGAC -3'
(R):5'- TCCTTCTGGGTGATGCCACG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation