Incidental Mutation 'R8745:Nup160'
ID |
663465 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nup160
|
Ensembl Gene |
ENSMUSG00000051329 |
Gene Name |
nucleoporin 160 |
Synonyms |
Gtl1-13, 2810011M03Rik |
MMRRC Submission |
068589-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
R8745 (G1)
|
Quality Score |
214.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
90507559-90566672 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 90530463 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 445
(F445L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059289
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057481]
|
AlphaFold |
Q9Z0W3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057481
AA Change: F445L
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000059289 Gene: ENSMUSG00000051329 AA Change: F445L
Domain | Start | End | E-Value | Type |
Pfam:Nup160
|
28 |
543 |
9.9e-134 |
PFAM |
low complexity region
|
695 |
710 |
N/A |
INTRINSIC |
low complexity region
|
1141 |
1152 |
N/A |
INTRINSIC |
low complexity region
|
1302 |
1315 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NUP160 is 1 of up to 60 proteins that make up the 120-MD nuclear pore complex, which mediates nucleoplasmic transport.[supplied by OMIM, Apr 2004]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1a1 |
A |
G |
19: 20,611,807 (GRCm39) |
N377S |
probably benign |
Het |
Aldh3b3 |
A |
T |
19: 4,014,890 (GRCm39) |
Y129F |
possibly damaging |
Het |
Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
Ankrd61 |
G |
A |
5: 143,828,237 (GRCm39) |
S246L |
possibly damaging |
Het |
Ccdc187 |
T |
A |
2: 26,170,526 (GRCm39) |
I651F |
probably damaging |
Het |
Cdc40 |
C |
T |
10: 40,717,480 (GRCm39) |
D404N |
probably damaging |
Het |
Ceacam13 |
T |
A |
7: 17,743,934 (GRCm39) |
S14T |
probably damaging |
Het |
Cfap58 |
A |
T |
19: 47,929,553 (GRCm39) |
K5* |
probably null |
Het |
Col27a1 |
T |
C |
4: 63,144,153 (GRCm39) |
S614P |
probably benign |
Het |
Crlf3 |
T |
A |
11: 79,955,100 (GRCm39) |
E85D |
probably damaging |
Het |
Dennd2b |
T |
A |
7: 109,156,279 (GRCm39) |
H157L |
probably benign |
Het |
Dlat |
G |
T |
9: 50,560,967 (GRCm39) |
A360E |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,221,624 (GRCm39) |
I1243V |
possibly damaging |
Het |
Dnajc22 |
A |
G |
15: 98,999,345 (GRCm39) |
T177A |
probably benign |
Het |
Dytn |
A |
T |
1: 63,686,606 (GRCm39) |
C355S |
probably benign |
Het |
Efcab3 |
C |
T |
11: 104,749,304 (GRCm39) |
T2340M |
possibly damaging |
Het |
Ehbp1 |
T |
C |
11: 22,119,064 (GRCm39) |
N202S |
possibly damaging |
Het |
Exoc3l2 |
T |
C |
7: 19,215,212 (GRCm39) |
I491T |
unknown |
Het |
Fam135a |
G |
A |
1: 24,067,569 (GRCm39) |
T1100M |
probably benign |
Het |
Fam53a |
A |
T |
5: 33,767,781 (GRCm39) |
I43N |
probably damaging |
Het |
Fis1 |
G |
T |
5: 136,982,365 (GRCm39) |
|
probably benign |
Het |
Fn1 |
T |
C |
1: 71,676,528 (GRCm39) |
T568A |
probably benign |
Het |
Gba1 |
A |
T |
3: 89,115,180 (GRCm39) |
N404I |
probably damaging |
Het |
Gsap |
A |
G |
5: 21,474,949 (GRCm39) |
Y536C |
probably benign |
Het |
Hecw2 |
T |
A |
1: 53,972,330 (GRCm39) |
E230V |
probably damaging |
Het |
Heg1 |
A |
G |
16: 33,555,986 (GRCm39) |
Q1046R |
probably benign |
Het |
Kctd14 |
G |
A |
7: 97,107,445 (GRCm39) |
W233* |
probably null |
Het |
Krt88 |
T |
C |
15: 101,351,460 (GRCm39) |
S156P |
possibly damaging |
Het |
L3mbtl1 |
C |
A |
2: 162,812,137 (GRCm39) |
H727Q |
probably benign |
Het |
Man1c1 |
T |
C |
4: 134,303,295 (GRCm39) |
K400E |
probably damaging |
Het |
Map2 |
A |
T |
1: 66,452,556 (GRCm39) |
Q482L |
probably benign |
Het |
Map3k1 |
A |
G |
13: 111,893,306 (GRCm39) |
V733A |
probably damaging |
Het |
Map4k1 |
G |
A |
7: 28,686,542 (GRCm39) |
D155N |
probably damaging |
Het |
Map4k3 |
G |
A |
17: 80,944,164 (GRCm39) |
R328C |
possibly damaging |
Het |
Marchf7 |
C |
T |
2: 60,067,153 (GRCm39) |
Q558* |
probably null |
Het |
Mepe |
T |
C |
5: 104,485,525 (GRCm39) |
S222P |
possibly damaging |
Het |
Mfap3l |
A |
T |
8: 61,124,958 (GRCm39) |
N400I |
possibly damaging |
Het |
Myom3 |
T |
C |
4: 135,522,509 (GRCm39) |
|
probably null |
Het |
Nav3 |
T |
C |
10: 109,659,311 (GRCm39) |
T769A |
probably benign |
Het |
Ndufb7 |
T |
A |
8: 84,297,518 (GRCm39) |
Y58N |
probably damaging |
Het |
Or1e20-ps1 |
C |
A |
11: 73,324,848 (GRCm39) |
*68L |
probably null |
Het |
Or4c126 |
T |
A |
2: 89,824,076 (GRCm39) |
M113K |
probably damaging |
Het |
Or4p23 |
T |
C |
2: 88,576,408 (GRCm39) |
I275V |
possibly damaging |
Het |
Ovch2 |
G |
A |
7: 107,389,584 (GRCm39) |
S321F |
possibly damaging |
Het |
Pamr1 |
T |
C |
2: 102,441,924 (GRCm39) |
L171P |
probably damaging |
Het |
Pcdhga5 |
T |
C |
18: 37,828,974 (GRCm39) |
V474A |
possibly damaging |
Het |
Pcgf6 |
A |
G |
19: 47,039,159 (GRCm39) |
S34P |
probably benign |
Het |
Pitrm1 |
C |
T |
13: 6,603,238 (GRCm39) |
P96L |
probably damaging |
Het |
Polr1a |
T |
C |
6: 71,931,755 (GRCm39) |
F945L |
probably damaging |
Het |
Ranbp1 |
A |
G |
16: 18,065,244 (GRCm39) |
S21P |
possibly damaging |
Het |
Rasgrp2 |
G |
T |
19: 6,463,949 (GRCm39) |
R549L |
probably damaging |
Het |
Rassf10 |
T |
A |
7: 112,554,083 (GRCm39) |
L228Q |
probably damaging |
Het |
Rho |
A |
T |
6: 115,912,483 (GRCm39) |
I275F |
probably damaging |
Het |
Rrp9 |
T |
C |
9: 106,361,657 (GRCm39) |
V400A |
possibly damaging |
Het |
Satb2 |
A |
G |
1: 57,008,796 (GRCm39) |
L62P |
unknown |
Het |
Scmh1 |
T |
A |
4: 120,362,559 (GRCm39) |
L265* |
probably null |
Het |
Scn7a |
A |
G |
2: 66,510,526 (GRCm39) |
M1292T |
probably benign |
Het |
Serpinb10 |
A |
T |
1: 107,474,542 (GRCm39) |
T235S |
probably benign |
Het |
Serpinb6c |
A |
G |
13: 34,064,702 (GRCm39) |
V214A |
probably benign |
Het |
Sf3b3 |
A |
G |
8: 111,550,816 (GRCm39) |
I616T |
possibly damaging |
Het |
Shb |
G |
C |
4: 45,458,319 (GRCm39) |
R282G |
probably benign |
Het |
Snx5 |
A |
T |
2: 144,103,932 (GRCm39) |
S22T |
probably benign |
Het |
Spata6 |
T |
C |
4: 111,636,476 (GRCm39) |
F256L |
probably benign |
Het |
Stab2 |
T |
C |
10: 86,805,213 (GRCm39) |
H255R |
probably benign |
Het |
Sva |
T |
A |
6: 42,015,357 (GRCm39) |
M1K |
probably null |
Het |
Tdpoz4 |
A |
T |
3: 93,704,221 (GRCm39) |
T173S |
probably benign |
Het |
Tex9 |
T |
C |
9: 72,389,778 (GRCm39) |
I111V |
probably benign |
Het |
Tigd4 |
A |
G |
3: 84,501,874 (GRCm39) |
I264V |
probably benign |
Het |
Tmem182 |
C |
T |
1: 40,877,536 (GRCm39) |
A137V |
probably damaging |
Het |
Tnfrsf1a |
A |
G |
6: 125,338,745 (GRCm39) |
I385V |
probably damaging |
Het |
Tnrc18 |
A |
T |
5: 142,773,202 (GRCm39) |
F542L |
|
Het |
Tpbpa |
G |
A |
13: 61,087,778 (GRCm39) |
T86I |
possibly damaging |
Het |
Trappc14 |
A |
G |
5: 138,261,327 (GRCm39) |
|
probably null |
Het |
Ubr5 |
G |
A |
15: 38,025,039 (GRCm39) |
P573L |
|
Het |
Usp54 |
A |
G |
14: 20,612,176 (GRCm39) |
I880T |
probably benign |
Het |
Vmn1r9 |
A |
G |
6: 57,048,767 (GRCm39) |
I281V |
probably benign |
Het |
Zfp456 |
C |
A |
13: 67,515,373 (GRCm39) |
C111F |
possibly damaging |
Het |
|
Other mutations in Nup160 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00898:Nup160
|
APN |
2 |
90,523,450 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00938:Nup160
|
APN |
2 |
90,563,171 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01111:Nup160
|
APN |
2 |
90,563,553 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01140:Nup160
|
APN |
2 |
90,530,909 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL01348:Nup160
|
APN |
2 |
90,530,772 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01361:Nup160
|
APN |
2 |
90,514,356 (GRCm39) |
nonsense |
probably null |
|
IGL01595:Nup160
|
APN |
2 |
90,560,081 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01791:Nup160
|
APN |
2 |
90,534,197 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02058:Nup160
|
APN |
2 |
90,560,051 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02147:Nup160
|
APN |
2 |
90,534,285 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02250:Nup160
|
APN |
2 |
90,539,214 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02507:Nup160
|
APN |
2 |
90,560,079 (GRCm39) |
missense |
probably benign |
0.08 |
IGL03108:Nup160
|
APN |
2 |
90,534,169 (GRCm39) |
missense |
probably benign |
|
R0031:Nup160
|
UTSW |
2 |
90,547,931 (GRCm39) |
splice site |
probably null |
|
R0365:Nup160
|
UTSW |
2 |
90,539,188 (GRCm39) |
missense |
probably benign |
0.01 |
R0417:Nup160
|
UTSW |
2 |
90,565,771 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0781:Nup160
|
UTSW |
2 |
90,563,563 (GRCm39) |
splice site |
probably benign |
|
R1037:Nup160
|
UTSW |
2 |
90,524,246 (GRCm39) |
missense |
probably damaging |
1.00 |
R1110:Nup160
|
UTSW |
2 |
90,563,563 (GRCm39) |
splice site |
probably benign |
|
R1459:Nup160
|
UTSW |
2 |
90,520,494 (GRCm39) |
missense |
probably damaging |
1.00 |
R1468:Nup160
|
UTSW |
2 |
90,530,887 (GRCm39) |
missense |
probably benign |
|
R1468:Nup160
|
UTSW |
2 |
90,530,887 (GRCm39) |
missense |
probably benign |
|
R1478:Nup160
|
UTSW |
2 |
90,509,743 (GRCm39) |
start gained |
probably benign |
|
R1565:Nup160
|
UTSW |
2 |
90,552,405 (GRCm39) |
missense |
possibly damaging |
0.62 |
R1617:Nup160
|
UTSW |
2 |
90,509,843 (GRCm39) |
missense |
probably benign |
|
R1647:Nup160
|
UTSW |
2 |
90,540,432 (GRCm39) |
missense |
probably damaging |
0.99 |
R1648:Nup160
|
UTSW |
2 |
90,540,432 (GRCm39) |
missense |
probably damaging |
0.99 |
R1702:Nup160
|
UTSW |
2 |
90,514,302 (GRCm39) |
missense |
probably damaging |
0.96 |
R1719:Nup160
|
UTSW |
2 |
90,530,780 (GRCm39) |
nonsense |
probably null |
|
R2448:Nup160
|
UTSW |
2 |
90,552,401 (GRCm39) |
missense |
probably damaging |
1.00 |
R3775:Nup160
|
UTSW |
2 |
90,552,420 (GRCm39) |
missense |
probably benign |
|
R3776:Nup160
|
UTSW |
2 |
90,552,420 (GRCm39) |
missense |
probably benign |
|
R4600:Nup160
|
UTSW |
2 |
90,515,541 (GRCm39) |
critical splice donor site |
probably null |
|
R4812:Nup160
|
UTSW |
2 |
90,556,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R5075:Nup160
|
UTSW |
2 |
90,530,518 (GRCm39) |
missense |
probably damaging |
0.99 |
R5309:Nup160
|
UTSW |
2 |
90,563,176 (GRCm39) |
nonsense |
probably null |
|
R5312:Nup160
|
UTSW |
2 |
90,563,176 (GRCm39) |
nonsense |
probably null |
|
R5447:Nup160
|
UTSW |
2 |
90,555,959 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5682:Nup160
|
UTSW |
2 |
90,510,155 (GRCm39) |
missense |
probably benign |
0.29 |
R5726:Nup160
|
UTSW |
2 |
90,548,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R5771:Nup160
|
UTSW |
2 |
90,553,740 (GRCm39) |
missense |
probably damaging |
1.00 |
R5825:Nup160
|
UTSW |
2 |
90,510,114 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5851:Nup160
|
UTSW |
2 |
90,537,382 (GRCm39) |
missense |
probably benign |
|
R5988:Nup160
|
UTSW |
2 |
90,519,553 (GRCm39) |
missense |
probably damaging |
1.00 |
R6151:Nup160
|
UTSW |
2 |
90,520,449 (GRCm39) |
nonsense |
probably null |
|
R6164:Nup160
|
UTSW |
2 |
90,548,220 (GRCm39) |
nonsense |
probably null |
|
R6356:Nup160
|
UTSW |
2 |
90,542,279 (GRCm39) |
splice site |
probably null |
|
R6379:Nup160
|
UTSW |
2 |
90,532,753 (GRCm39) |
nonsense |
probably null |
|
R6519:Nup160
|
UTSW |
2 |
90,548,561 (GRCm39) |
missense |
probably damaging |
0.99 |
R6755:Nup160
|
UTSW |
2 |
90,530,800 (GRCm39) |
missense |
probably damaging |
1.00 |
R6989:Nup160
|
UTSW |
2 |
90,537,364 (GRCm39) |
missense |
probably benign |
0.34 |
R7251:Nup160
|
UTSW |
2 |
90,530,518 (GRCm39) |
missense |
probably damaging |
0.99 |
R7256:Nup160
|
UTSW |
2 |
90,553,699 (GRCm39) |
missense |
probably damaging |
1.00 |
R7353:Nup160
|
UTSW |
2 |
90,534,296 (GRCm39) |
missense |
probably damaging |
0.99 |
R7546:Nup160
|
UTSW |
2 |
90,515,402 (GRCm39) |
missense |
probably damaging |
1.00 |
R7761:Nup160
|
UTSW |
2 |
90,533,456 (GRCm39) |
missense |
probably benign |
|
R7768:Nup160
|
UTSW |
2 |
90,530,460 (GRCm39) |
missense |
probably damaging |
1.00 |
R7959:Nup160
|
UTSW |
2 |
90,544,239 (GRCm39) |
critical splice donor site |
probably null |
|
R8525:Nup160
|
UTSW |
2 |
90,548,440 (GRCm39) |
critical splice donor site |
probably null |
|
R8726:Nup160
|
UTSW |
2 |
90,563,545 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8989:Nup160
|
UTSW |
2 |
90,548,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R9087:Nup160
|
UTSW |
2 |
90,514,429 (GRCm39) |
missense |
probably benign |
0.09 |
R9147:Nup160
|
UTSW |
2 |
90,533,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R9148:Nup160
|
UTSW |
2 |
90,533,489 (GRCm39) |
missense |
probably damaging |
1.00 |
R9149:Nup160
|
UTSW |
2 |
90,552,585 (GRCm39) |
intron |
probably benign |
|
R9153:Nup160
|
UTSW |
2 |
90,514,429 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9284:Nup160
|
UTSW |
2 |
90,548,375 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9435:Nup160
|
UTSW |
2 |
90,560,138 (GRCm39) |
missense |
probably damaging |
1.00 |
R9537:Nup160
|
UTSW |
2 |
90,560,088 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9695:Nup160
|
UTSW |
2 |
90,538,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCTTGGATTCAGATTTCTGGAAG -3'
(R):5'- AACTCCCTGATGAAAAGGCTTAAG -3'
Sequencing Primer
(F):5'- CAGATTTCTGGAAGTTATTCTGGTTC -3'
(R):5'- AGGCTTAAGCATTTCTACTTTCTAC -3'
|
Posted On |
2021-03-08 |