Incidental Mutation 'R7353:Nup160'
| ID |
570714 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup160
|
| Ensembl Gene |
ENSMUSG00000051329 |
| Gene Name |
nucleoporin 160 |
| Synonyms |
Gtl1-13, 2810011M03Rik |
| MMRRC Submission |
045439-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R7353 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
90507559-90566672 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 90534296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 707
(L707S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059289
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057481]
|
| AlphaFold |
Q9Z0W3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057481
AA Change: L707S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000059289
Gene: ENSMUSG00000051329
AA Change: L707S
| 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: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110070M22Rik |
C |
A |
13: 119,624,714 (GRCm39) |
A11S |
unknown |
Het |
| Aadacl4 |
G |
A |
4: 144,344,490 (GRCm39) |
V89I |
probably damaging |
Het |
| Abcc9 |
T |
A |
6: 142,546,731 (GRCm39) |
I1369F |
probably damaging |
Het |
| Adgrf3 |
T |
A |
5: 30,403,495 (GRCm39) |
I427F |
probably damaging |
Het |
| Alox12e |
T |
C |
11: 70,212,261 (GRCm39) |
Y139C |
probably damaging |
Het |
| Arhgef2 |
T |
A |
3: 88,542,993 (GRCm39) |
V397E |
possibly damaging |
Het |
| Arhgef28 |
T |
A |
13: 98,211,710 (GRCm39) |
Y91F |
probably damaging |
Het |
| Bcar3 |
A |
G |
3: 122,306,341 (GRCm39) |
T454A |
probably benign |
Het |
| Bicc1 |
G |
T |
10: 70,783,730 (GRCm39) |
T469K |
probably benign |
Het |
| Boc |
C |
T |
16: 44,306,100 (GRCm39) |
V1070M |
unknown |
Het |
| Ccdc88a |
T |
A |
11: 29,413,368 (GRCm39) |
N635K |
probably benign |
Het |
| Ccr2 |
T |
C |
9: 123,906,793 (GRCm39) |
S358P |
probably damaging |
Het |
| Ccser2 |
T |
C |
14: 36,663,100 (GRCm39) |
Q28R |
possibly damaging |
Het |
| Cenpf |
T |
A |
1: 189,386,335 (GRCm39) |
K1982* |
probably null |
Het |
| Csn1s2a |
A |
T |
5: 87,933,161 (GRCm39) |
I137F |
possibly damaging |
Het |
| Cttnbp2 |
A |
T |
6: 18,375,943 (GRCm39) |
I1532K |
possibly damaging |
Het |
| Dnajc13 |
C |
A |
9: 104,107,230 (GRCm39) |
R304L |
possibly damaging |
Het |
| Dop1a |
T |
A |
9: 86,394,912 (GRCm39) |
M664K |
probably damaging |
Het |
| Emilin3 |
T |
A |
2: 160,750,741 (GRCm39) |
E336V |
probably damaging |
Het |
| Eml5 |
A |
G |
12: 98,791,683 (GRCm39) |
Y63H |
|
Het |
| Fbxo41 |
G |
T |
6: 85,456,958 (GRCm39) |
R404S |
possibly damaging |
Het |
| Gpr155 |
A |
T |
2: 73,197,835 (GRCm39) |
Y456* |
probably null |
Het |
| Gpr156 |
T |
A |
16: 37,812,523 (GRCm39) |
N286K |
probably damaging |
Het |
| Kcna5 |
A |
G |
6: 126,511,808 (GRCm39) |
S107P |
probably benign |
Het |
| Kcne2 |
A |
T |
16: 92,093,710 (GRCm39) |
H79L |
possibly damaging |
Het |
| Kcnh4 |
T |
A |
11: 100,648,025 (GRCm39) |
M113L |
probably benign |
Het |
| Lad1 |
T |
A |
1: 135,755,513 (GRCm39) |
L263Q |
probably damaging |
Het |
| Lctl |
G |
A |
9: 64,034,249 (GRCm39) |
G296D |
probably damaging |
Het |
| Lmtk3 |
A |
T |
7: 45,437,424 (GRCm39) |
I205F |
possibly damaging |
Het |
| Magel2 |
G |
T |
7: 62,029,079 (GRCm39) |
R661L |
unknown |
Het |
| Mcm10 |
G |
A |
2: 5,011,920 (GRCm39) |
P180S |
possibly damaging |
Het |
| Mia3 |
G |
T |
1: 183,108,247 (GRCm39) |
A446D |
|
Het |
| N4bp2 |
G |
A |
5: 65,963,714 (GRCm39) |
V588M |
probably benign |
Het |
| Naip6 |
C |
T |
13: 100,436,259 (GRCm39) |
V755M |
probably benign |
Het |
| Neurl1a |
T |
C |
19: 47,229,099 (GRCm39) |
V213A |
probably damaging |
Het |
| Nrdc |
A |
G |
4: 108,896,946 (GRCm39) |
T522A |
probably damaging |
Het |
| Ntng1 |
T |
C |
3: 110,042,763 (GRCm39) |
Q21R |
probably damaging |
Het |
| Oas2 |
A |
T |
5: 120,876,587 (GRCm39) |
V452D |
probably damaging |
Het |
| Or10a3n |
A |
G |
7: 108,493,429 (GRCm39) |
F67L |
probably damaging |
Het |
| Or1j1 |
A |
G |
2: 36,702,915 (GRCm39) |
L63P |
probably damaging |
Het |
| Or1j4 |
A |
T |
2: 36,740,081 (GRCm39) |
M8L |
probably benign |
Het |
| Or1n1 |
G |
A |
2: 36,749,680 (GRCm39) |
R227* |
probably null |
Het |
| Or52s1 |
A |
C |
7: 102,861,516 (GRCm39) |
T150P |
probably damaging |
Het |
| Plekhg1 |
A |
T |
10: 3,914,327 (GRCm39) |
T1405S |
|
Het |
| Pnrc1 |
G |
A |
4: 33,248,300 (GRCm39) |
P33L |
probably damaging |
Het |
| Prkag2 |
A |
T |
5: 25,085,684 (GRCm39) |
V312E |
possibly damaging |
Het |
| Rps17 |
T |
A |
7: 80,994,093 (GRCm39) |
E76V |
possibly damaging |
Het |
| Rsph10b |
G |
A |
5: 143,904,038 (GRCm39) |
G672S |
possibly damaging |
Het |
| Slc2a13 |
T |
C |
15: 91,205,807 (GRCm39) |
N460S |
probably benign |
Het |
| Slco2b1 |
A |
T |
7: 99,339,764 (GRCm39) |
C56S |
possibly damaging |
Het |
| Speer1f |
G |
A |
5: 11,466,403 (GRCm39) |
D7N |
possibly damaging |
Het |
| Spn |
T |
C |
7: 126,736,178 (GRCm39) |
T110A |
probably benign |
Het |
| Sult2a8 |
T |
C |
7: 14,147,640 (GRCm39) |
N217S |
possibly damaging |
Het |
| Tbx2 |
C |
A |
11: 85,724,315 (GRCm39) |
T128N |
probably damaging |
Het |
| Tecpr2 |
A |
T |
12: 110,934,278 (GRCm39) |
M1313L |
probably benign |
Het |
| Tmc2 |
G |
A |
2: 130,038,497 (GRCm39) |
|
probably null |
Het |
| Tstd1 |
G |
T |
1: 171,247,523 (GRCm39) |
A69S |
probably damaging |
Het |
| Txnrd3 |
A |
G |
6: 89,638,567 (GRCm39) |
D252G |
probably benign |
Het |
| Ulk2 |
T |
C |
11: 61,710,174 (GRCm39) |
N345D |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,481,355 (GRCm39) |
D1694G |
probably benign |
Het |
| Vill |
T |
C |
9: 118,894,561 (GRCm39) |
V406A |
probably damaging |
Het |
| Vmn2r115 |
T |
C |
17: 23,564,887 (GRCm39) |
V258A |
possibly damaging |
Het |
| Vmn2r82 |
T |
A |
10: 79,232,452 (GRCm39) |
M817K |
probably benign |
Het |
| Xpnpep3 |
T |
C |
15: 81,315,088 (GRCm39) |
S263P |
probably benign |
Het |
| Zfp980 |
A |
G |
4: 145,428,714 (GRCm39) |
D481G |
probably benign |
Het |
| Zmpste24 |
A |
G |
4: 120,952,778 (GRCm39) |
S81P |
probably damaging |
Het |
| Znrf4 |
A |
G |
17: 56,819,169 (GRCm39) |
V46A |
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 |
|
R7256:Nup160
|
UTSW |
2 |
90,553,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- ATCTTGCCAGCATTTAACTCCAT -3'
(R):5'- ACCCCATACCACACTCTTGG -3'
Sequencing Primer
(F):5'- CTCAGCCTTTGAACGTTC -3'
(R):5'- GGACAAAGCCTGCCTTCTGTAAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation