Incidental Mutation 'R1647:Nup160'
| ID |
173929 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup160
|
| Ensembl Gene |
ENSMUSG00000051329 |
| Gene Name |
nucleoporin 160 |
| Synonyms |
Gtl1-13, 2810011M03Rik |
| MMRRC Submission |
039683-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R1647 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
90507559-90566672 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90540432 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 854
(Y854H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059289
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057481]
|
| AlphaFold |
Q9Z0W3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057481
AA Change: Y854H
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000059289
Gene: ENSMUSG00000051329
AA Change: Y854H
| 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 |
0.6593 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
97% (70/72) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522H14Rik |
A |
G |
4: 109,362,768 (GRCm39) |
S184P |
probably damaging |
Het |
| Adgb |
A |
G |
10: 10,271,115 (GRCm39) |
F817L |
probably damaging |
Het |
| Anxa10 |
T |
C |
8: 62,545,618 (GRCm39) |
D38G |
probably damaging |
Het |
| Atp8b2 |
G |
A |
3: 89,849,091 (GRCm39) |
A1081V |
probably benign |
Het |
| Baz1a |
G |
A |
12: 55,021,983 (GRCm39) |
R100C |
probably damaging |
Het |
| Ceacam18 |
A |
C |
7: 43,288,689 (GRCm39) |
T147P |
possibly damaging |
Het |
| Cep170b |
C |
T |
12: 112,702,806 (GRCm39) |
T423I |
probably damaging |
Het |
| Chd6 |
A |
G |
2: 160,883,978 (GRCm39) |
L89S |
probably damaging |
Het |
| Chrm3 |
A |
T |
13: 9,928,461 (GRCm39) |
W192R |
probably damaging |
Het |
| Cnn1 |
C |
A |
9: 22,019,150 (GRCm39) |
A202E |
probably damaging |
Het |
| Dcaf7 |
T |
A |
11: 105,942,628 (GRCm39) |
F192I |
probably damaging |
Het |
| Eif2b5 |
T |
C |
16: 20,321,335 (GRCm39) |
V296A |
possibly damaging |
Het |
| Entpd7 |
A |
G |
19: 43,710,184 (GRCm39) |
|
probably benign |
Het |
| Esr1 |
A |
G |
10: 4,951,260 (GRCm39) |
E546G |
possibly damaging |
Het |
| Etaa1 |
C |
A |
11: 17,896,492 (GRCm39) |
G542C |
probably damaging |
Het |
| Exosc8 |
A |
T |
3: 54,641,522 (GRCm39) |
|
probably null |
Het |
| Fras1 |
T |
A |
5: 96,874,472 (GRCm39) |
|
probably null |
Het |
| G930045G22Rik |
T |
C |
6: 50,823,698 (GRCm39) |
|
noncoding transcript |
Het |
| Gm22697+Rbm27 |
AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC |
AGGTCCCGGCCCAGGCCC |
18: 42,434,948 (GRCm39) |
|
probably benign |
Het |
| Gpr155 |
T |
C |
2: 73,194,508 (GRCm39) |
|
probably null |
Het |
| Has1 |
A |
G |
17: 18,070,247 (GRCm39) |
Y225H |
probably damaging |
Het |
| Hk3 |
A |
G |
13: 55,162,274 (GRCm39) |
F110S |
probably damaging |
Het |
| Iars1 |
A |
G |
13: 49,876,478 (GRCm39) |
K848E |
possibly damaging |
Het |
| Il22ra1 |
C |
A |
4: 135,477,771 (GRCm39) |
H281N |
probably damaging |
Het |
| Inpp4b |
G |
T |
8: 82,583,403 (GRCm39) |
|
probably benign |
Het |
| Itga11 |
A |
G |
9: 62,667,652 (GRCm39) |
N662D |
probably benign |
Het |
| Kif20b |
A |
T |
19: 34,914,190 (GRCm39) |
T355S |
possibly damaging |
Het |
| Kif21a |
T |
C |
15: 90,878,570 (GRCm39) |
T237A |
probably damaging |
Het |
| Klc1 |
T |
C |
12: 111,743,321 (GRCm39) |
L216P |
probably damaging |
Het |
| Krt84 |
G |
A |
15: 101,434,398 (GRCm39) |
S523F |
possibly damaging |
Het |
| Lama3 |
A |
G |
18: 12,665,256 (GRCm39) |
D2330G |
possibly damaging |
Het |
| Lamb2 |
G |
A |
9: 108,358,622 (GRCm39) |
|
probably null |
Het |
| Limch1 |
T |
A |
5: 67,156,599 (GRCm39) |
S511R |
probably damaging |
Het |
| Lnx2 |
C |
A |
5: 146,964,152 (GRCm39) |
V468L |
probably benign |
Het |
| Lrriq1 |
A |
T |
10: 103,006,509 (GRCm39) |
C1205* |
probably null |
Het |
| Lsm4 |
A |
G |
8: 71,130,456 (GRCm39) |
Y25C |
probably damaging |
Het |
| Macc1 |
T |
C |
12: 119,410,156 (GRCm39) |
M308T |
probably benign |
Het |
| Miip |
T |
C |
4: 147,949,691 (GRCm39) |
S174G |
probably benign |
Het |
| Mroh9 |
T |
G |
1: 162,873,625 (GRCm39) |
E510A |
probably damaging |
Het |
| Msh2 |
C |
T |
17: 87,980,064 (GRCm39) |
A14V |
probably benign |
Het |
| Nbea |
T |
A |
3: 55,537,650 (GRCm39) |
I2828F |
probably damaging |
Het |
| Nkx2-3 |
A |
T |
19: 43,602,895 (GRCm39) |
Q167L |
probably damaging |
Het |
| Or10a3n |
A |
G |
7: 108,492,972 (GRCm39) |
I214T |
probably damaging |
Het |
| Or51a10 |
A |
G |
7: 103,699,376 (GRCm39) |
Y62H |
probably damaging |
Het |
| Or5an10 |
T |
A |
19: 12,276,023 (GRCm39) |
I158L |
probably benign |
Het |
| Pate9 |
A |
G |
9: 36,445,736 (GRCm39) |
S72P |
possibly damaging |
Het |
| Phldb1 |
G |
A |
9: 44,626,730 (GRCm39) |
P572S |
probably damaging |
Het |
| Plcb2 |
A |
T |
2: 118,554,261 (GRCm39) |
M64K |
possibly damaging |
Het |
| Prr12 |
T |
A |
7: 44,683,616 (GRCm39) |
N1683Y |
probably benign |
Het |
| Prrg4 |
C |
A |
2: 104,663,088 (GRCm39) |
A173S |
probably benign |
Het |
| Pygl |
T |
A |
12: 70,243,784 (GRCm39) |
I553F |
possibly damaging |
Het |
| Rasd1 |
T |
C |
11: 59,854,920 (GRCm39) |
M187V |
probably benign |
Het |
| Rasgrf1 |
A |
G |
9: 89,835,973 (GRCm39) |
I234V |
probably benign |
Het |
| Rps6ka4 |
C |
A |
19: 6,816,730 (GRCm39) |
V118L |
probably benign |
Het |
| Sbspon |
C |
A |
1: 15,953,983 (GRCm39) |
R99L |
probably damaging |
Het |
| Sdhaf3 |
T |
C |
6: 6,956,126 (GRCm39) |
Y34H |
probably damaging |
Het |
| Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
| Shc2 |
T |
A |
10: 79,461,945 (GRCm39) |
M367L |
probably benign |
Het |
| Slc26a5 |
T |
A |
5: 22,018,974 (GRCm39) |
K590* |
probably null |
Het |
| Slc39a12 |
T |
C |
2: 14,456,803 (GRCm39) |
V597A |
probably benign |
Het |
| Slc45a3 |
G |
A |
1: 131,905,262 (GRCm39) |
G81D |
probably damaging |
Het |
| Spata2l |
T |
C |
8: 123,960,041 (GRCm39) |
N416S |
probably benign |
Het |
| Tdrd6 |
A |
C |
17: 43,938,000 (GRCm39) |
V1016G |
possibly damaging |
Het |
| Tet2 |
A |
G |
3: 133,191,641 (GRCm39) |
V931A |
probably benign |
Het |
| Tmem190 |
A |
G |
7: 4,787,120 (GRCm39) |
D108G |
probably damaging |
Het |
| Trip11 |
T |
A |
12: 101,850,651 (GRCm39) |
K853* |
probably null |
Het |
| Vmn2r111 |
A |
T |
17: 22,788,042 (GRCm39) |
D436E |
probably benign |
Het |
| Zfp704 |
A |
T |
3: 9,536,099 (GRCm39) |
S140R |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
|
| Posted On |
2014-04-24 |
Incidental Mutation