Incidental Mutation 'IGL02507:Nup160'
| ID |
296387 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nup160
|
| Ensembl Gene |
ENSMUSG00000051329 |
| Gene Name |
nucleoporin 160 |
| Synonyms |
Gtl1-13, 2810011M03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
IGL02507
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
90507559-90566672 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 90560079 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 1268
(Q1268L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059289
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057481]
|
| AlphaFold |
Q9Z0W3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057481
AA Change: Q1268L
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000059289
Gene: ENSMUSG00000051329
AA Change: Q1268L
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126503
|
| Coding Region Coverage |
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,349,388 (GRCm39) |
Y3654C |
probably damaging |
Het |
| Aldh1l2 |
A |
C |
10: 83,328,448 (GRCm39) |
Y756* |
probably null |
Het |
| Arhgef12 |
T |
C |
9: 42,903,859 (GRCm39) |
E733G |
probably damaging |
Het |
| Art5 |
A |
T |
7: 101,748,699 (GRCm39) |
M1K |
probably null |
Het |
| Atp1a2 |
A |
T |
1: 172,113,338 (GRCm39) |
D448E |
probably damaging |
Het |
| Atp6v1b1 |
C |
T |
6: 83,733,837 (GRCm39) |
T356I |
possibly damaging |
Het |
| Celsr1 |
A |
G |
15: 85,784,889 (GRCm39) |
|
probably benign |
Het |
| Cep89 |
A |
G |
7: 35,134,990 (GRCm39) |
Y686C |
probably damaging |
Het |
| Cgrrf1 |
T |
A |
14: 47,090,901 (GRCm39) |
Y212* |
probably null |
Het |
| Chrnb1 |
T |
C |
11: 69,675,916 (GRCm39) |
Y442C |
probably damaging |
Het |
| Clcn1 |
T |
C |
6: 42,284,007 (GRCm39) |
|
probably benign |
Het |
| Clcn7 |
G |
A |
17: 25,363,443 (GRCm39) |
V40M |
probably damaging |
Het |
| Cntn1 |
A |
G |
15: 92,148,860 (GRCm39) |
Y369C |
possibly damaging |
Het |
| Csmd1 |
T |
C |
8: 17,584,992 (GRCm39) |
|
probably benign |
Het |
| Dpy19l2 |
A |
T |
9: 24,542,563 (GRCm39) |
C446S |
probably benign |
Het |
| Edem3 |
G |
A |
1: 151,687,407 (GRCm39) |
E782K |
probably benign |
Het |
| Efcab15 |
T |
A |
11: 103,090,275 (GRCm39) |
Q287L |
probably damaging |
Het |
| Ephb3 |
T |
A |
16: 21,039,389 (GRCm39) |
|
probably benign |
Het |
| Fndc4 |
T |
C |
5: 31,452,090 (GRCm39) |
D109G |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,805,267 (GRCm39) |
V1303A |
possibly damaging |
Het |
| Gcn1 |
T |
C |
5: 115,723,940 (GRCm39) |
L532P |
probably benign |
Het |
| Gm5150 |
A |
G |
3: 16,017,485 (GRCm39) |
L262P |
probably damaging |
Het |
| Hbb-bs |
T |
C |
7: 103,477,091 (GRCm39) |
|
probably benign |
Het |
| Krt74 |
A |
G |
15: 101,669,059 (GRCm39) |
|
noncoding transcript |
Het |
| Myo1a |
T |
C |
10: 127,548,478 (GRCm39) |
V375A |
probably damaging |
Het |
| Or4k42 |
G |
A |
2: 111,319,768 (GRCm39) |
T245M |
possibly damaging |
Het |
| Or51ag1 |
G |
T |
7: 103,155,925 (GRCm39) |
S76* |
probably null |
Het |
| Or5d16 |
G |
A |
2: 87,773,262 (GRCm39) |
R237* |
probably null |
Het |
| Or9s27 |
T |
C |
1: 92,516,648 (GRCm39) |
S199P |
possibly damaging |
Het |
| Pan3 |
T |
C |
5: 147,463,406 (GRCm39) |
S497P |
probably damaging |
Het |
| Pex5 |
T |
C |
6: 124,390,264 (GRCm39) |
T138A |
probably benign |
Het |
| Pik3ap1 |
A |
G |
19: 41,270,451 (GRCm39) |
|
probably benign |
Het |
| Ptchd4 |
A |
T |
17: 42,627,764 (GRCm39) |
H75L |
possibly damaging |
Het |
| Rag2 |
A |
T |
2: 101,461,055 (GRCm39) |
H455L |
probably damaging |
Het |
| Rergl |
T |
A |
6: 139,470,351 (GRCm39) |
E159V |
probably damaging |
Het |
| Rrn3 |
A |
G |
16: 13,606,721 (GRCm39) |
N109S |
probably benign |
Het |
| Scn1a |
A |
T |
2: 66,108,157 (GRCm39) |
V1523D |
probably damaging |
Het |
| Sec23a |
A |
G |
12: 59,053,884 (GRCm39) |
V38A |
probably benign |
Het |
| Slc15a2 |
G |
A |
16: 36,602,021 (GRCm39) |
T92M |
possibly damaging |
Het |
| Slc2a2 |
A |
G |
3: 28,781,260 (GRCm39) |
T433A |
probably benign |
Het |
| Sptan1 |
A |
G |
2: 29,906,067 (GRCm39) |
D1671G |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 30,861,167 (GRCm39) |
|
probably benign |
Het |
| Stau2 |
A |
T |
1: 16,556,293 (GRCm39) |
I22N |
possibly damaging |
Het |
| Strn3 |
A |
T |
12: 51,708,410 (GRCm39) |
Y123* |
probably null |
Het |
| Tmem205 |
A |
G |
9: 21,837,607 (GRCm39) |
V13A |
possibly damaging |
Het |
| Trub1 |
G |
A |
19: 57,472,009 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,568,699 (GRCm39) |
V27398A |
possibly damaging |
Het |
| Vill |
A |
G |
9: 118,899,845 (GRCm39) |
E343G |
possibly damaging |
Het |
| Zgpat |
T |
C |
2: 181,008,029 (GRCm39) |
F189L |
probably 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 |
|
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 |
|
R8745:Nup160
|
UTSW |
2 |
90,530,463 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation