Incidental Mutation 'R8726:Nup160'
| ID |
662406 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup160
|
| Ensembl Gene |
ENSMUSG00000051329 |
| Gene Name |
nucleoporin 160 |
| Synonyms |
Gtl1-13, 2810011M03Rik |
| MMRRC Submission |
068616-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R8726 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
90507559-90566672 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 90563545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 1370
(H1370Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059289
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057481]
|
| AlphaFold |
Q9Z0W3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057481
AA Change: H1370Q
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000059289
Gene: ENSMUSG00000051329
AA Change: H1370Q
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (76/76) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810408A11Rik |
A |
G |
11: 69,789,207 (GRCm39) |
S331P |
possibly damaging |
Het |
| 4930433I11Rik |
A |
G |
7: 40,644,226 (GRCm39) |
M632V |
probably benign |
Het |
| 9930111J21Rik2 |
A |
C |
11: 48,910,507 (GRCm39) |
V642G |
probably damaging |
Het |
| Abcd4 |
A |
T |
12: 84,651,171 (GRCm39) |
|
probably benign |
Het |
| Acsbg1 |
T |
C |
9: 54,525,462 (GRCm39) |
E363G |
probably damaging |
Het |
| Ank3 |
T |
A |
10: 69,823,084 (GRCm39) |
H584Q |
|
Het |
| Ankrd11 |
A |
T |
8: 123,620,765 (GRCm39) |
L1029Q |
possibly damaging |
Het |
| Anpep |
C |
T |
7: 79,490,641 (GRCm39) |
V292I |
probably benign |
Het |
| Atmin |
G |
A |
8: 117,681,525 (GRCm39) |
D175N |
possibly damaging |
Het |
| B4galt6 |
T |
C |
18: 20,821,450 (GRCm39) |
I359M |
possibly damaging |
Het |
| Bicd2 |
A |
G |
13: 49,532,905 (GRCm39) |
D497G |
probably damaging |
Het |
| Calcr |
C |
T |
6: 3,707,489 (GRCm39) |
|
probably benign |
Het |
| Camkk2 |
G |
T |
5: 122,882,002 (GRCm39) |
D418E |
probably benign |
Het |
| Cntn3 |
A |
T |
6: 102,146,014 (GRCm39) |
Y942* |
probably null |
Het |
| Col8a1 |
C |
T |
16: 57,449,138 (GRCm39) |
R124H |
probably damaging |
Het |
| Coro7 |
T |
C |
16: 4,486,619 (GRCm39) |
T185A |
possibly damaging |
Het |
| Creb3 |
C |
T |
4: 43,566,747 (GRCm39) |
P364S |
probably benign |
Het |
| Csf1r |
A |
T |
18: 61,250,728 (GRCm39) |
T480S |
probably benign |
Het |
| Csnk1g1 |
T |
A |
9: 65,909,553 (GRCm39) |
H223Q |
probably damaging |
Het |
| Ctns |
C |
T |
11: 73,078,613 (GRCm39) |
V171M |
probably benign |
Het |
| Dhx15 |
A |
T |
5: 52,311,568 (GRCm39) |
N637K |
probably benign |
Het |
| Eif4g1 |
T |
C |
16: 20,494,232 (GRCm39) |
Y103H |
probably damaging |
Het |
| Eif4g2 |
C |
T |
7: 110,676,629 (GRCm39) |
R295H |
probably damaging |
Het |
| Fat1 |
C |
T |
8: 45,477,206 (GRCm39) |
P2084L |
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,064,647 (GRCm39) |
R4868G |
probably damaging |
Het |
| Fbxo31 |
A |
T |
8: 122,282,014 (GRCm39) |
Y295* |
probably null |
Het |
| Fmn2 |
C |
A |
1: 174,437,404 (GRCm39) |
T1125N |
possibly damaging |
Het |
| Foxi2 |
C |
A |
7: 135,012,133 (GRCm39) |
P7Q |
probably damaging |
Het |
| Hmx1 |
C |
T |
5: 35,549,100 (GRCm39) |
P131L |
probably damaging |
Het |
| Hrh2 |
T |
C |
13: 54,368,171 (GRCm39) |
L49P |
probably damaging |
Het |
| Hycc2 |
T |
C |
1: 58,585,285 (GRCm39) |
T171A |
possibly damaging |
Het |
| Igkv6-14 |
A |
G |
6: 70,412,125 (GRCm39) |
V53A |
possibly damaging |
Het |
| Kcnb2 |
C |
A |
1: 15,780,876 (GRCm39) |
Q583K |
probably benign |
Het |
| Kcns3 |
A |
G |
12: 11,141,692 (GRCm39) |
S336P |
probably damaging |
Het |
| Kremen2 |
G |
T |
17: 23,961,720 (GRCm39) |
F262L |
probably damaging |
Het |
| Krtap9-1 |
T |
A |
11: 99,764,577 (GRCm39) |
C104* |
probably null |
Het |
| Ky |
A |
G |
9: 102,405,102 (GRCm39) |
Y199C |
probably damaging |
Het |
| L1td1 |
T |
G |
4: 98,622,215 (GRCm39) |
L259R |
probably damaging |
Het |
| Lrba |
A |
G |
3: 86,261,062 (GRCm39) |
T1473A |
probably benign |
Het |
| Lrp6 |
A |
T |
6: 134,484,624 (GRCm39) |
L333* |
probably null |
Het |
| Lrrc23 |
T |
C |
6: 124,753,043 (GRCm39) |
N201S |
probably benign |
Het |
| Map4k4 |
C |
A |
1: 40,043,142 (GRCm39) |
P666T |
possibly damaging |
Het |
| Matn1 |
T |
A |
4: 130,679,514 (GRCm39) |
D389E |
probably damaging |
Het |
| Mdc1 |
G |
T |
17: 36,158,475 (GRCm39) |
G285V |
probably benign |
Het |
| Mettl17 |
T |
C |
14: 52,128,187 (GRCm39) |
|
probably null |
Het |
| Mknk1 |
A |
T |
4: 115,730,506 (GRCm39) |
|
probably benign |
Het |
| Neurod1 |
A |
T |
2: 79,284,430 (GRCm39) |
F318I |
possibly damaging |
Het |
| Nfya |
T |
C |
17: 48,699,445 (GRCm39) |
T213A |
probably damaging |
Het |
| Nmrk1 |
C |
T |
19: 18,616,902 (GRCm39) |
T17M |
probably damaging |
Het |
| Ntrk1 |
A |
C |
3: 87,693,396 (GRCm39) |
D245E |
probably benign |
Het |
| Or11h6 |
A |
C |
14: 50,880,703 (GRCm39) |
K316Q |
probably benign |
Het |
| Or5w8 |
T |
C |
2: 87,688,161 (GRCm39) |
V214A |
probably benign |
Het |
| Or6x1 |
T |
A |
9: 40,098,663 (GRCm39) |
V84E |
probably damaging |
Het |
| Parp4 |
G |
A |
14: 56,866,556 (GRCm39) |
R1040H |
probably benign |
Het |
| Pdia4 |
C |
A |
6: 47,785,200 (GRCm39) |
E56* |
probably null |
Het |
| Pdia5 |
A |
G |
16: 35,269,784 (GRCm39) |
F175S |
probably damaging |
Het |
| Piezo2 |
C |
T |
18: 63,242,956 (GRCm39) |
S621N |
probably benign |
Het |
| Pigw |
T |
C |
11: 84,768,643 (GRCm39) |
T229A |
possibly damaging |
Het |
| Rasa3 |
T |
C |
8: 13,626,381 (GRCm39) |
Y734C |
probably benign |
Het |
| Rfx7 |
T |
A |
9: 72,500,505 (GRCm39) |
|
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,633,181 (GRCm39) |
D178G |
possibly damaging |
Het |
| Ros1 |
A |
G |
10: 51,954,769 (GRCm39) |
V1853A |
possibly damaging |
Het |
| Rps7 |
A |
G |
12: 28,681,714 (GRCm39) |
I139T |
probably benign |
Het |
| Sall3 |
T |
C |
18: 81,029,708 (GRCm39) |
D15G |
possibly damaging |
Het |
| Scn1a |
A |
T |
2: 66,133,983 (GRCm39) |
V137D |
probably benign |
Het |
| Slc23a3 |
G |
A |
1: 75,106,173 (GRCm39) |
P349S |
probably benign |
Het |
| Slc35a5 |
C |
G |
16: 44,964,021 (GRCm39) |
R404P |
probably damaging |
Het |
| Stard13 |
A |
T |
5: 150,986,607 (GRCm39) |
M301K |
probably benign |
Het |
| Suclg2 |
A |
G |
6: 95,632,489 (GRCm39) |
F60S |
probably damaging |
Het |
| Tecpr2 |
T |
A |
12: 110,904,668 (GRCm39) |
F887L |
possibly damaging |
Het |
| Tekt4 |
G |
T |
17: 25,691,033 (GRCm39) |
W113L |
probably damaging |
Het |
| Tep1 |
G |
A |
14: 51,085,080 (GRCm39) |
S901F |
probably damaging |
Het |
| Tex11 |
C |
T |
X: 100,059,191 (GRCm39) |
V190I |
possibly damaging |
Het |
| Thbs1 |
T |
A |
2: 117,949,957 (GRCm39) |
|
probably null |
Het |
| Tm9sf4 |
T |
A |
2: 153,040,295 (GRCm39) |
V425D |
probably damaging |
Het |
| Tpo |
A |
G |
12: 30,105,137 (GRCm39) |
L911P |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,729,301 (GRCm39) |
Q5332R |
unknown |
Het |
| Wdr59 |
A |
T |
8: 112,223,466 (GRCm39) |
D169E |
|
Het |
| Zfp799 |
C |
A |
17: 33,039,166 (GRCm39) |
G367C |
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 |
|
|
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 |
|
|
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'- TTTCAGAATGGTGGCAAGGG -3'
(R):5'- TGCAATTGAAGCCCACATAATTCC -3'
Sequencing Primer
(F):5'- CAAGGGGGTGGAGTTTAAAGTGTTTC -3'
(R):5'- AAGCCCACATAATTCCTTCTTAATAC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation