Incidental Mutation 'R1617:Nup160'
ID |
174332 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nup160
|
Ensembl Gene |
ENSMUSG00000051329 |
Gene Name |
nucleoporin 160 |
Synonyms |
Gtl1-13, 2810011M03Rik |
MMRRC Submission |
039654-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
R1617 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
90507559-90566672 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 90509843 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 31
(C31S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059289
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057481]
|
AlphaFold |
Q9Z0W3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057481
AA Change: C31S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000059289 Gene: ENSMUSG00000051329 AA Change: C31S
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 |
0.0861 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 91.0%
|
Validation Efficiency |
98% (83/85) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
T |
A |
13: 119,603,473 (GRCm39) |
I91K |
probably damaging |
Het |
AAdacl4fm3 |
T |
G |
4: 144,441,961 (GRCm39) |
T97P |
probably damaging |
Het |
Adamts16 |
T |
A |
13: 70,946,154 (GRCm39) |
M254L |
probably benign |
Het |
Adgre5 |
T |
C |
8: 84,456,806 (GRCm39) |
I192V |
possibly damaging |
Het |
Akr1c21 |
G |
A |
13: 4,626,351 (GRCm39) |
|
probably null |
Het |
Amz2 |
A |
G |
11: 109,324,850 (GRCm39) |
T245A |
probably benign |
Het |
Aqp7 |
A |
C |
4: 41,036,109 (GRCm39) |
M43R |
probably null |
Het |
Arid3c |
G |
A |
4: 41,725,103 (GRCm39) |
P315S |
probably damaging |
Het |
Birc2 |
A |
T |
9: 7,826,952 (GRCm39) |
Y345N |
possibly damaging |
Het |
Blnk |
T |
C |
19: 40,950,807 (GRCm39) |
T115A |
probably benign |
Het |
Col5a1 |
T |
C |
2: 27,842,393 (GRCm39) |
S423P |
unknown |
Het |
Corin |
A |
T |
5: 72,661,295 (GRCm39) |
F66Y |
possibly damaging |
Het |
Cpd |
A |
T |
11: 76,737,495 (GRCm39) |
W100R |
probably damaging |
Het |
Cpsf1 |
A |
T |
15: 76,486,570 (GRCm39) |
Y296* |
probably null |
Het |
Cyp2d34 |
T |
C |
15: 82,505,046 (GRCm39) |
T5A |
probably benign |
Het |
Dhrs7c |
G |
T |
11: 67,705,903 (GRCm39) |
V219L |
possibly damaging |
Het |
Dnah3 |
T |
C |
7: 119,689,169 (GRCm39) |
M82V |
probably benign |
Het |
Dnah9 |
A |
G |
11: 65,786,747 (GRCm39) |
S3629P |
probably damaging |
Het |
Fbrs |
T |
C |
7: 127,086,883 (GRCm39) |
L33P |
probably damaging |
Het |
Fhip1b |
A |
G |
7: 105,034,269 (GRCm39) |
L454P |
probably damaging |
Het |
Galnt11 |
T |
A |
5: 25,463,891 (GRCm39) |
S388T |
probably damaging |
Het |
Glmp |
A |
G |
3: 88,235,426 (GRCm39) |
|
probably benign |
Het |
Gm9894 |
A |
G |
13: 67,920,845 (GRCm39) |
|
noncoding transcript |
Het |
Grik3 |
A |
G |
4: 125,584,985 (GRCm39) |
M618V |
probably benign |
Het |
Hmcn1 |
T |
C |
1: 150,620,778 (GRCm39) |
D1144G |
probably damaging |
Het |
Hnrnpa2b1 |
T |
C |
6: 51,443,378 (GRCm39) |
K161R |
possibly damaging |
Het |
Kmt2c |
T |
C |
5: 25,580,925 (GRCm39) |
I523V |
probably benign |
Het |
Lmln |
C |
T |
16: 32,937,500 (GRCm39) |
P622S |
probably damaging |
Het |
Lmtk2 |
A |
G |
5: 144,110,680 (GRCm39) |
T467A |
probably damaging |
Het |
Map1s |
T |
A |
8: 71,366,095 (GRCm39) |
N333K |
probably damaging |
Het |
Mgat4d |
C |
A |
8: 84,092,340 (GRCm39) |
A242D |
probably damaging |
Het |
Muc5b |
T |
A |
7: 141,417,261 (GRCm39) |
Y3402* |
probably null |
Het |
Myo3b |
G |
T |
2: 70,111,562 (GRCm39) |
A922S |
probably benign |
Het |
Nphs1 |
T |
C |
7: 30,181,956 (GRCm39) |
V1183A |
probably benign |
Het |
Or4c58 |
T |
C |
2: 89,674,598 (GRCm39) |
T240A |
probably benign |
Het |
Or8k25 |
A |
T |
2: 86,244,035 (GRCm39) |
Y120* |
probably null |
Het |
Pcdhb5 |
T |
G |
18: 37,454,455 (GRCm39) |
Y278* |
probably null |
Het |
Pkhd1 |
T |
A |
1: 20,268,274 (GRCm39) |
E3368V |
possibly damaging |
Het |
Pla2g6 |
A |
G |
15: 79,173,341 (GRCm39) |
M676T |
probably benign |
Het |
Plcb1 |
A |
T |
2: 135,179,361 (GRCm39) |
N590Y |
probably damaging |
Het |
Prr12 |
G |
A |
7: 44,699,018 (GRCm39) |
|
probably benign |
Het |
Psat1 |
A |
G |
19: 15,901,666 (GRCm39) |
|
probably null |
Het |
Ptpn9 |
T |
G |
9: 56,934,692 (GRCm39) |
I152S |
possibly damaging |
Het |
Ric8b |
T |
A |
10: 84,783,475 (GRCm39) |
F111Y |
probably damaging |
Het |
Slc44a3 |
G |
A |
3: 121,254,914 (GRCm39) |
A568V |
probably benign |
Het |
Smarcd3 |
T |
G |
5: 24,800,192 (GRCm39) |
R213S |
probably damaging |
Het |
Snx13 |
T |
C |
12: 35,136,895 (GRCm39) |
Y119H |
probably damaging |
Het |
Socs2 |
C |
A |
10: 95,248,943 (GRCm39) |
E57* |
probably null |
Het |
Spred1 |
C |
T |
2: 117,005,828 (GRCm39) |
P197S |
probably benign |
Het |
Srek1 |
G |
T |
13: 103,880,112 (GRCm39) |
P482Q |
unknown |
Het |
Tapbp |
A |
G |
17: 34,139,405 (GRCm39) |
T134A |
probably benign |
Het |
Tarbp1 |
T |
C |
8: 127,171,007 (GRCm39) |
I998V |
possibly damaging |
Het |
Tbcel |
G |
T |
9: 42,372,589 (GRCm39) |
|
probably benign |
Het |
Tec |
A |
G |
5: 72,939,448 (GRCm39) |
F189S |
probably damaging |
Het |
Tmprss11g |
A |
T |
5: 86,647,422 (GRCm39) |
Y39N |
probably damaging |
Het |
Tmtc1 |
A |
G |
6: 148,256,902 (GRCm39) |
|
probably benign |
Het |
Trpa1 |
A |
G |
1: 14,943,899 (GRCm39) |
I1070T |
probably damaging |
Het |
Trpm2 |
T |
A |
10: 77,771,709 (GRCm39) |
|
probably null |
Het |
Ttc21b |
G |
T |
2: 66,056,379 (GRCm39) |
T669K |
probably benign |
Het |
Ttll4 |
G |
A |
1: 74,718,560 (GRCm39) |
R137H |
probably benign |
Het |
Ubqln3 |
G |
T |
7: 103,792,067 (GRCm39) |
L8I |
possibly damaging |
Het |
Ung |
C |
A |
5: 114,269,415 (GRCm39) |
N42K |
probably benign |
Het |
Upp1 |
T |
C |
11: 9,084,865 (GRCm39) |
S195P |
probably damaging |
Het |
Urb1 |
T |
C |
16: 90,557,340 (GRCm39) |
E1762G |
possibly damaging |
Het |
Utp11 |
T |
C |
4: 124,579,904 (GRCm39) |
K35E |
probably damaging |
Het |
Vav3 |
A |
T |
3: 109,418,294 (GRCm39) |
K305I |
probably damaging |
Het |
Vmn1r197 |
A |
G |
13: 22,512,498 (GRCm39) |
I140V |
possibly damaging |
Het |
Vmn2r-ps158 |
A |
G |
7: 42,673,503 (GRCm39) |
E187G |
probably benign |
Het |
Zfc3h1 |
A |
G |
10: 115,226,827 (GRCm39) |
T295A |
probably benign |
Het |
Zfp268 |
A |
T |
4: 145,350,877 (GRCm39) |
|
probably benign |
Het |
Zfp46 |
T |
C |
4: 136,017,823 (GRCm39) |
L219P |
probably damaging |
Het |
Zfp493 |
G |
A |
13: 67,931,999 (GRCm39) |
V33M |
probably damaging |
Het |
Zfp92 |
T |
C |
X: 72,463,466 (GRCm39) |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCGCCCGCTTTTCAAAATGAAAAC -3'
(R):5'- TGCAAGGGACTGACAGTGCATAC -3'
Sequencing Primer
(F):5'- CTCATTCTCGCGGTGAAAAG -3'
(R):5'- CTGACAGTGCATACAATAGTGAGTG -3'
|
Posted On |
2014-04-24 |