Incidental Mutation 'R7022:Nup205'
| ID |
545687 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup205
|
| Ensembl Gene |
ENSMUSG00000038759 |
| Gene Name |
nucleoporin 205 |
| Synonyms |
3830404O05Rik |
| MMRRC Submission |
045123-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R7022 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
35154551-35224534 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35220871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 1891
(V1891D)
|
| 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: V1838D
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000039656
Gene: ENSMUSG00000038759
AA Change: V1838D
| 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: V1891D
PolyPhen 2
Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000144126
Gene: ENSMUSG00000038759
AA Change: V1891D
| 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: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (75/75) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
T |
11: 109,974,326 (GRCm39) |
S203T |
probably damaging |
Het |
| Adat1 |
A |
T |
8: 112,716,494 (GRCm39) |
M76K |
probably damaging |
Het |
| Ankrd33 |
G |
C |
15: 101,014,780 (GRCm39) |
V56L |
probably benign |
Het |
| Ascc3 |
T |
A |
10: 50,592,725 (GRCm39) |
L1134I |
possibly damaging |
Het |
| C3 |
T |
G |
17: 57,524,286 (GRCm39) |
D948A |
probably damaging |
Het |
| Ccdc121rt3 |
A |
C |
5: 112,503,395 (GRCm39) |
M103R |
probably benign |
Het |
| Ccdc40 |
A |
G |
11: 119,122,612 (GRCm39) |
E138G |
possibly damaging |
Het |
| Cd80 |
A |
G |
16: 38,306,866 (GRCm39) |
|
probably null |
Het |
| Cdca7 |
T |
A |
2: 72,309,873 (GRCm39) |
|
probably null |
Het |
| Chit1 |
A |
G |
1: 134,079,030 (GRCm39) |
S447G |
probably benign |
Het |
| Cmya5 |
C |
T |
13: 93,205,786 (GRCm39) |
|
probably null |
Het |
| Cnnm2 |
A |
T |
19: 46,750,989 (GRCm39) |
I260F |
probably damaging |
Het |
| Cnnm2 |
T |
A |
19: 46,847,379 (GRCm39) |
|
probably null |
Het |
| Col1a2 |
T |
C |
6: 4,534,639 (GRCm39) |
L881P |
unknown |
Het |
| Crebbp |
A |
T |
16: 3,935,187 (GRCm39) |
S901T |
probably damaging |
Het |
| Dcun1d2 |
T |
C |
8: 13,321,637 (GRCm39) |
Y158C |
probably damaging |
Het |
| Dnhd1 |
C |
T |
7: 105,370,005 (GRCm39) |
P4477S |
probably benign |
Het |
| Donson |
A |
G |
16: 91,478,218 (GRCm39) |
Y428H |
probably damaging |
Het |
| Dsp |
G |
T |
13: 38,375,716 (GRCm39) |
W1167L |
probably benign |
Het |
| Elmo2 |
C |
T |
2: 165,136,961 (GRCm39) |
V592M |
probably damaging |
Het |
| Enpp3 |
T |
A |
10: 24,702,093 (GRCm39) |
E60D |
probably damaging |
Het |
| Erfl |
A |
T |
7: 24,631,089 (GRCm39) |
|
probably null |
Het |
| Fam83b |
TAAGA |
T |
9: 76,409,394 (GRCm39) |
|
probably null |
Het |
| Fbxo38 |
A |
G |
18: 62,669,295 (GRCm39) |
C52R |
probably damaging |
Het |
| Gm10912 |
T |
C |
2: 103,897,055 (GRCm39) |
W65R |
probably damaging |
Het |
| Gm43518 |
A |
T |
5: 124,074,490 (GRCm39) |
M44L |
probably benign |
Het |
| Gnb1 |
T |
A |
4: 155,637,913 (GRCm39) |
D212E |
probably damaging |
Het |
| Gnl1 |
A |
G |
17: 36,299,620 (GRCm39) |
N597S |
probably damaging |
Het |
| Gprin1 |
T |
G |
13: 54,886,855 (GRCm39) |
E473A |
probably benign |
Het |
| Ighv1-69 |
T |
A |
12: 115,586,834 (GRCm39) |
M100L |
probably benign |
Het |
| Igkv14-100 |
T |
C |
6: 68,496,193 (GRCm39) |
S29P |
probably damaging |
Het |
| Ints6 |
A |
G |
14: 62,951,786 (GRCm39) |
V232A |
probably damaging |
Het |
| Jup |
A |
G |
11: 100,270,379 (GRCm39) |
L376P |
probably damaging |
Het |
| Kdr |
A |
T |
5: 76,132,920 (GRCm39) |
Y119* |
probably null |
Het |
| Kif1a |
T |
G |
1: 92,993,820 (GRCm39) |
T377P |
probably benign |
Het |
| Lama5 |
C |
A |
2: 179,822,524 (GRCm39) |
V2850L |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,313,552 (GRCm39) |
Y2393C |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,356,763 (GRCm39) |
Q255* |
probably null |
Het |
| Msh3 |
A |
C |
13: 92,372,096 (GRCm39) |
D891E |
probably damaging |
Het |
| Msl2 |
A |
G |
9: 100,957,335 (GRCm39) |
N2D |
possibly damaging |
Het |
| Myo19 |
T |
C |
11: 84,791,373 (GRCm39) |
L476P |
probably damaging |
Het |
| Nbeal2 |
G |
A |
9: 110,467,686 (GRCm39) |
R501W |
probably damaging |
Het |
| Nfasc |
C |
A |
1: 132,548,787 (GRCm39) |
K293N |
probably damaging |
Het |
| Npbwr1 |
A |
T |
1: 5,987,319 (GRCm39) |
L65Q |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,401,825 (GRCm39) |
D34E |
probably damaging |
Het |
| Or51g2 |
T |
A |
7: 102,623,175 (GRCm39) |
N8I |
possibly damaging |
Het |
| Or5g29 |
T |
A |
2: 85,420,942 (GRCm39) |
D19E |
probably benign |
Het |
| Or5k1b |
T |
C |
16: 58,581,482 (GRCm39) |
N19S |
probably benign |
Het |
| Or8g22 |
G |
T |
9: 38,958,379 (GRCm39) |
C156* |
probably null |
Het |
| Oscp1 |
G |
A |
4: 125,976,783 (GRCm39) |
|
probably null |
Het |
| Pcdhgb7 |
A |
G |
18: 37,886,086 (GRCm39) |
T419A |
probably damaging |
Het |
| Pdzph1 |
T |
C |
17: 59,281,121 (GRCm39) |
D387G |
probably benign |
Het |
| Phc1 |
A |
G |
6: 122,311,990 (GRCm39) |
F56S |
probably damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,599,061 (GRCm39) |
E59G |
possibly damaging |
Het |
| Prickle1 |
G |
T |
15: 93,398,752 (GRCm39) |
T692K |
possibly damaging |
Het |
| Rbm45 |
T |
A |
2: 76,206,738 (GRCm39) |
L250Q |
probably damaging |
Het |
| Ror1 |
T |
A |
4: 100,265,108 (GRCm39) |
M194K |
probably damaging |
Het |
| Rrbp1 |
T |
A |
2: 143,799,722 (GRCm39) |
|
probably null |
Het |
| Rundc3b |
T |
C |
5: 8,562,348 (GRCm39) |
K340R |
probably null |
Het |
| Scn1a |
T |
A |
2: 66,148,243 (GRCm39) |
T1101S |
probably damaging |
Het |
| Sdk1 |
C |
G |
5: 142,080,412 (GRCm39) |
|
probably null |
Het |
| Skic2 |
A |
G |
17: 35,064,183 (GRCm39) |
F501S |
possibly damaging |
Het |
| Slc20a1 |
T |
A |
2: 129,041,979 (GRCm39) |
M114K |
probably damaging |
Het |
| Sorl1 |
A |
C |
9: 41,881,047 (GRCm39) |
I2158S |
probably benign |
Het |
| Strip1 |
A |
T |
3: 107,534,111 (GRCm39) |
F174L |
probably benign |
Het |
| Sucnr1 |
A |
T |
3: 59,993,699 (GRCm39) |
I76L |
probably benign |
Het |
| Syt17 |
C |
T |
7: 118,007,242 (GRCm39) |
V412I |
probably benign |
Het |
| Tie1 |
T |
A |
4: 118,346,850 (GRCm39) |
H18L |
probably benign |
Het |
| Tpp1 |
T |
G |
7: 105,398,129 (GRCm39) |
K345Q |
probably damaging |
Het |
| Trcg1 |
G |
A |
9: 57,148,852 (GRCm39) |
M141I |
possibly damaging |
Het |
| Trpc4ap |
T |
C |
2: 155,499,742 (GRCm39) |
N260S |
probably benign |
Het |
| Vps41 |
C |
A |
13: 19,026,438 (GRCm39) |
T512K |
possibly damaging |
Het |
| Vps52 |
A |
T |
17: 34,178,293 (GRCm39) |
M147L |
probably benign |
Het |
| Ywhaq |
A |
G |
12: 21,441,752 (GRCm39) |
|
probably benign |
Het |
| Zfp619 |
A |
G |
7: 39,184,387 (GRCm39) |
N139S |
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 |
|
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'- TCCAGCTTCAATACTGGTGTC -3'
(R):5'- GTAAATCCCTGCAGATCCCTC -3'
Sequencing Primer
(F):5'- CCAGGGTGAGGCTTATCCATTGTAC -3'
(R):5'- TGCAGATCCCTCAGCAGC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation