Incidental Mutation 'R5851:Nup160'
| ID |
454652 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup160
|
| Ensembl Gene |
ENSMUSG00000051329 |
| Gene Name |
nucleoporin 160 |
| Synonyms |
Gtl1-13, 2810011M03Rik |
| MMRRC Submission |
044067-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R5851 (G1)
|
| Quality Score |
221 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
90507559-90566672 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 90537382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 752
(D752G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059289
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057481]
|
| AlphaFold |
Q9Z0W3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057481
AA Change: D752G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000059289
Gene: ENSMUSG00000051329
AA Change: D752G
| 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: ENSMUST00000130629
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136739
|
| Meta Mutation Damage Score |
0.0762 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (75/75) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
A |
G |
2: 25,332,322 (GRCm39) |
N1452D |
possibly damaging |
Het |
| Abhd15 |
T |
C |
11: 77,409,273 (GRCm39) |
L329P |
probably benign |
Het |
| Add3 |
T |
C |
19: 53,225,205 (GRCm39) |
S442P |
probably damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,484,980 (GRCm39) |
F228L |
probably damaging |
Het |
| Bptf |
A |
T |
11: 107,001,688 (GRCm39) |
Y475N |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,518,612 (GRCm39) |
N1257S |
probably null |
Het |
| Cdkl1 |
A |
T |
12: 69,803,338 (GRCm39) |
Y179* |
probably null |
Het |
| Ceacam1 |
T |
C |
7: 25,174,025 (GRCm39) |
N210S |
possibly damaging |
Het |
| Celf3 |
T |
A |
3: 94,386,433 (GRCm39) |
I7N |
probably damaging |
Het |
| Clxn |
T |
A |
16: 14,738,300 (GRCm39) |
L155H |
probably damaging |
Het |
| Cmpk1 |
A |
G |
4: 114,844,167 (GRCm39) |
V55A |
possibly damaging |
Het |
| Csrnp1 |
C |
T |
9: 119,802,144 (GRCm39) |
G305D |
possibly damaging |
Het |
| Dnah3 |
A |
G |
7: 119,638,585 (GRCm39) |
S1266P |
possibly damaging |
Het |
| Edc4 |
T |
C |
8: 106,617,499 (GRCm39) |
L1077P |
probably damaging |
Het |
| Fam174a |
G |
A |
1: 95,252,868 (GRCm39) |
G157S |
probably damaging |
Het |
| Fubp3 |
T |
A |
2: 31,488,622 (GRCm39) |
D159E |
probably benign |
Het |
| Garem2 |
C |
T |
5: 30,319,288 (GRCm39) |
T250M |
probably damaging |
Het |
| H2-Eb1 |
C |
T |
17: 34,528,745 (GRCm39) |
P92L |
probably benign |
Het |
| Ifnl3 |
G |
T |
7: 28,222,936 (GRCm39) |
C69F |
probably damaging |
Het |
| Itga2b |
C |
A |
11: 102,348,427 (GRCm39) |
|
probably benign |
Het |
| Klhl33 |
A |
T |
14: 51,130,335 (GRCm39) |
D386E |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Loricrin |
G |
A |
3: 91,987,846 (GRCm39) |
A480V |
unknown |
Het |
| Msh3 |
G |
T |
13: 92,352,030 (GRCm39) |
Q1041K |
probably benign |
Het |
| Mtrex |
G |
A |
13: 113,045,486 (GRCm39) |
R349W |
probably damaging |
Het |
| Myo1e |
G |
A |
9: 70,291,086 (GRCm39) |
G959E |
probably benign |
Het |
| Nfat5 |
G |
T |
8: 108,074,359 (GRCm39) |
V338L |
probably damaging |
Het |
| Nrf1 |
A |
G |
6: 30,089,975 (GRCm39) |
H18R |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,885,526 (GRCm39) |
L2489* |
probably null |
Het |
| Or4p22 |
A |
G |
2: 88,317,204 (GRCm39) |
I43V |
possibly damaging |
Het |
| Or51q1c |
A |
G |
7: 103,652,659 (GRCm39) |
E59G |
probably benign |
Het |
| Paip1 |
T |
C |
13: 119,577,301 (GRCm39) |
S215P |
possibly damaging |
Het |
| Pate2 |
T |
A |
9: 35,581,797 (GRCm39) |
Y26* |
probably null |
Het |
| Pcdhb10 |
A |
G |
18: 37,545,811 (GRCm39) |
I296V |
probably benign |
Het |
| Pdzph1 |
T |
G |
17: 59,280,741 (GRCm39) |
T514P |
probably benign |
Het |
| Pnlip |
G |
A |
19: 58,662,224 (GRCm39) |
W123* |
probably null |
Het |
| Prmt2 |
C |
A |
10: 76,072,574 (GRCm39) |
C9F |
possibly damaging |
Het |
| Rbl1 |
T |
A |
2: 157,009,245 (GRCm39) |
K763N |
probably benign |
Het |
| Rfk |
C |
T |
19: 17,372,562 (GRCm39) |
A28V |
probably damaging |
Het |
| Scart1 |
C |
T |
7: 139,807,940 (GRCm39) |
P704S |
possibly damaging |
Het |
| Sdk1 |
G |
A |
5: 141,948,424 (GRCm39) |
V590I |
probably benign |
Het |
| Sele |
A |
G |
1: 163,877,143 (GRCm39) |
K140E |
probably benign |
Het |
| Sla |
G |
A |
15: 66,655,572 (GRCm39) |
T189I |
probably damaging |
Het |
| Slc46a2 |
A |
G |
4: 59,913,906 (GRCm39) |
V339A |
probably damaging |
Het |
| Slc5a9 |
A |
G |
4: 111,742,797 (GRCm39) |
F432L |
probably benign |
Het |
| Slc6a19 |
A |
G |
13: 73,839,859 (GRCm39) |
F141S |
possibly damaging |
Het |
| Tas2r123 |
T |
C |
6: 132,824,271 (GRCm39) |
L56S |
probably damaging |
Het |
| Tektip1 |
A |
T |
10: 81,200,711 (GRCm39) |
|
probably null |
Het |
| Tmem245 |
T |
C |
4: 56,916,770 (GRCm39) |
I53V |
probably benign |
Het |
| Tor2a |
A |
T |
2: 32,651,619 (GRCm39) |
Q278L |
probably benign |
Het |
| Trav6-3 |
A |
G |
14: 53,667,572 (GRCm39) |
M15V |
probably benign |
Het |
| Ttc28 |
G |
A |
5: 111,383,335 (GRCm39) |
|
probably benign |
Het |
| Ubap2 |
G |
A |
4: 41,206,268 (GRCm39) |
Q534* |
probably null |
Het |
| Yju2 |
C |
T |
17: 56,274,582 (GRCm39) |
S298F |
probably damaging |
Het |
| Zfp954 |
C |
A |
7: 7,118,624 (GRCm39) |
E307* |
probably null |
Het |
| Zscan21 |
A |
G |
5: 138,124,740 (GRCm39) |
K219E |
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 |
|
|
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'- ATGTGTATTGCCTCTACAGTGC -3'
(R):5'- GCACACAGTAATCGAGGGAC -3'
Sequencing Primer
(F):5'- GTATTGCCTCTACAGTGCCGTTC -3'
(R):5'- ACCCACTGAGCTATCTCT -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation