Incidental Mutation 'R7256:Nup160'
| ID |
564246 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup160
|
| Ensembl Gene |
ENSMUSG00000051329 |
| Gene Name |
nucleoporin 160 |
| Synonyms |
Gtl1-13, 2810011M03Rik |
| MMRRC Submission |
045317-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R7256 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
90507559-90566672 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 90553699 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 1143
(I1143N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059289
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057481]
|
| AlphaFold |
Q9Z0W3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057481
AA Change: I1143N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000059289
Gene: ENSMUSG00000051329
AA Change: I1143N
| 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 |
|
| Meta Mutation Damage Score |
0.2339 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (70/71) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts5 |
A |
G |
16: 85,659,923 (GRCm39) |
Y790H |
probably damaging |
Het |
| Bend3 |
A |
C |
10: 43,369,667 (GRCm39) |
S7R |
probably benign |
Het |
| Ccdc106 |
A |
G |
7: 5,063,325 (GRCm39) |
T277A |
probably damaging |
Het |
| Ccdc162 |
G |
A |
10: 41,431,997 (GRCm39) |
A1832V |
probably damaging |
Het |
| Ccser1 |
A |
G |
6: 61,288,851 (GRCm39) |
E338G |
probably benign |
Het |
| Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
| Cecr2 |
T |
C |
6: 120,739,490 (GRCm39) |
S1406P |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,382,360 (GRCm39) |
T208A |
probably damaging |
Het |
| Cep85l |
A |
C |
10: 53,172,351 (GRCm39) |
C569W |
probably damaging |
Het |
| Ces5a |
G |
A |
8: 94,226,154 (GRCm39) |
T527I |
probably benign |
Het |
| Clca3a2 |
T |
A |
3: 144,796,608 (GRCm39) |
I200F |
probably damaging |
Het |
| Cmas |
G |
A |
6: 142,716,312 (GRCm39) |
D251N |
probably damaging |
Het |
| Ctcfl |
G |
T |
2: 172,960,268 (GRCm39) |
A105E |
probably benign |
Het |
| Dclk2 |
C |
T |
3: 86,700,566 (GRCm39) |
R638H |
probably damaging |
Het |
| Dctn6 |
A |
T |
8: 34,557,962 (GRCm39) |
I170N |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,321,920 (GRCm39) |
Y3800C |
probably damaging |
Het |
| Dsg2 |
G |
A |
18: 20,724,988 (GRCm39) |
V465I |
possibly damaging |
Het |
| Dzip1 |
T |
C |
14: 119,123,058 (GRCm39) |
T646A |
probably benign |
Het |
| Etv4 |
T |
A |
11: 101,675,151 (GRCm39) |
|
probably null |
Het |
| Exoc3l2 |
T |
C |
7: 19,218,628 (GRCm39) |
V549A |
unknown |
Het |
| Ficd |
G |
T |
5: 113,876,880 (GRCm39) |
A352S |
probably damaging |
Het |
| Fry |
T |
G |
5: 150,390,251 (GRCm39) |
I179S |
|
Het |
| Galntl5 |
A |
G |
5: 25,400,298 (GRCm39) |
H109R |
probably benign |
Het |
| Garem1 |
C |
A |
18: 21,281,811 (GRCm39) |
G182W |
probably damaging |
Het |
| Gm5916 |
A |
T |
9: 36,032,285 (GRCm39) |
Y50N |
possibly damaging |
Het |
| Gtf2h2 |
A |
T |
13: 100,615,709 (GRCm39) |
F271I |
probably benign |
Het |
| Hivep2 |
G |
T |
10: 14,004,845 (GRCm39) |
S481I |
probably benign |
Het |
| Homez |
T |
A |
14: 55,094,877 (GRCm39) |
Q277L |
probably damaging |
Het |
| Hoxb4 |
C |
A |
11: 96,210,722 (GRCm39) |
|
probably null |
Het |
| Igll1 |
A |
G |
16: 16,678,957 (GRCm39) |
S118P |
probably damaging |
Het |
| Ikzf2 |
A |
C |
1: 69,617,212 (GRCm39) |
|
probably null |
Het |
| Kif5b |
A |
G |
18: 6,225,340 (GRCm39) |
V230A |
probably damaging |
Het |
| Ldlr |
T |
A |
9: 21,657,040 (GRCm39) |
V719E |
probably benign |
Het |
| Lsm7 |
G |
A |
10: 80,689,565 (GRCm39) |
R66W |
possibly damaging |
Het |
| Map3k13 |
T |
A |
16: 21,710,988 (GRCm39) |
D90E |
probably benign |
Het |
| Mmrn1 |
A |
G |
6: 60,953,098 (GRCm39) |
K460E |
probably damaging |
Het |
| Myh10 |
A |
C |
11: 68,681,515 (GRCm39) |
N1061H |
probably damaging |
Het |
| Nepn |
A |
G |
10: 52,277,089 (GRCm39) |
Q275R |
probably benign |
Het |
| Noc3l |
A |
T |
19: 38,800,800 (GRCm39) |
D227E |
probably benign |
Het |
| Nploc4 |
G |
T |
11: 120,319,376 (GRCm39) |
S61R |
probably benign |
Het |
| Nr4a2 |
T |
C |
2: 57,002,381 (GRCm39) |
Y24C |
probably damaging |
Het |
| Or14a256 |
G |
T |
7: 86,264,873 (GRCm39) |
H327N |
probably benign |
Het |
| Or4a15 |
A |
T |
2: 89,192,838 (GRCm39) |
Y312N |
probably benign |
Het |
| Or8c17 |
T |
A |
9: 38,180,004 (GRCm39) |
M57K |
probably damaging |
Het |
| Or8h7 |
A |
G |
2: 86,720,956 (GRCm39) |
S188P |
probably damaging |
Het |
| Papola |
T |
A |
12: 105,775,604 (GRCm39) |
C204S |
probably damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pgap1 |
A |
T |
1: 54,532,366 (GRCm39) |
|
probably null |
Het |
| Pitrm1 |
A |
G |
13: 6,606,633 (GRCm39) |
H229R |
probably damaging |
Het |
| Plcl1 |
A |
G |
1: 55,737,377 (GRCm39) |
Q906R |
probably benign |
Het |
| Ppfia3 |
T |
C |
7: 44,991,167 (GRCm39) |
N1018S |
probably benign |
Het |
| Pramel24 |
T |
A |
4: 143,452,849 (GRCm39) |
D93E |
probably benign |
Het |
| Prkd1 |
A |
G |
12: 50,435,125 (GRCm39) |
V534A |
possibly damaging |
Het |
| Pygm |
A |
T |
19: 6,435,926 (GRCm39) |
I126F |
probably benign |
Het |
| Rag1 |
T |
C |
2: 101,472,415 (GRCm39) |
Y909C |
probably damaging |
Het |
| Rasgrf2 |
G |
A |
13: 92,032,637 (GRCm39) |
Q560* |
probably null |
Het |
| Rbp3 |
A |
T |
14: 33,684,540 (GRCm39) |
I1190F |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,183,921 (GRCm39) |
K1693E |
probably benign |
Het |
| Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
| Rsph3a |
A |
G |
17: 8,165,002 (GRCm39) |
T121A |
probably benign |
Het |
| Rufy3 |
A |
G |
5: 88,762,806 (GRCm39) |
N112S |
possibly damaging |
Het |
| Ryr3 |
G |
A |
2: 112,502,591 (GRCm39) |
Q3548* |
probably null |
Het |
| Sardh |
A |
T |
2: 27,108,824 (GRCm39) |
V637D |
probably benign |
Het |
| Spata16 |
T |
C |
3: 26,722,016 (GRCm39) |
V179A |
probably benign |
Het |
| Spopfm2 |
T |
C |
3: 94,083,667 (GRCm39) |
E48G |
probably benign |
Het |
| Tbc1d30 |
G |
A |
10: 121,124,870 (GRCm39) |
T319I |
probably damaging |
Het |
| Tlr2 |
T |
A |
3: 83,744,913 (GRCm39) |
Q390L |
possibly damaging |
Het |
| Tmem53 |
C |
T |
4: 117,109,237 (GRCm39) |
|
probably null |
Het |
| Vmn1r113 |
T |
A |
7: 20,521,370 (GRCm39) |
I54N |
probably damaging |
Het |
| Vmn1r223 |
A |
C |
13: 23,434,036 (GRCm39) |
Y210S |
probably damaging |
Het |
| Zbbx |
A |
T |
3: 74,947,205 (GRCm39) |
H670Q |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCCTTTGCTTGAGTCAGC -3'
(R):5'- AGTATCTCTGCCTTAGACCCAC -3'
Sequencing Primer
(F):5'- CGCGCACACATGAATGAATG -3'
(R):5'- GTATCTCTGCCTTAGACCCACCTATC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation