Incidental Mutation 'R6989:Nup160'
| ID |
543122 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup160
|
| Ensembl Gene |
ENSMUSG00000051329 |
| Gene Name |
nucleoporin 160 |
| Synonyms |
Gtl1-13, 2810011M03Rik |
| MMRRC Submission |
045095-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R6989 (G1)
|
| Quality Score |
99.0078 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
90507559-90566672 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 90537364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 746
(S746N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059289
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057481]
|
| AlphaFold |
Q9Z0W3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057481
AA Change: S746N
PolyPhen 2
Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000059289
Gene: ENSMUSG00000051329
AA Change: S746N
| 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: 99.3%
- 20x: 97.4%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921536K21Rik |
C |
T |
11: 3,840,076 (GRCm39) |
R107H |
probably damaging |
Het |
| 4930438A08Rik |
T |
C |
11: 58,178,228 (GRCm39) |
V96A |
possibly damaging |
Het |
| Abcc2 |
A |
G |
19: 43,820,611 (GRCm39) |
D1370G |
probably damaging |
Het |
| Abcc9 |
T |
A |
6: 142,634,707 (GRCm39) |
N186Y |
probably damaging |
Het |
| Adcy7 |
T |
C |
8: 89,035,414 (GRCm39) |
V106A |
probably benign |
Het |
| Adgra3 |
A |
G |
5: 50,164,226 (GRCm39) |
F251S |
probably damaging |
Het |
| Akr1c6 |
T |
A |
13: 4,499,045 (GRCm39) |
I33N |
probably damaging |
Het |
| Alk |
A |
C |
17: 72,204,947 (GRCm39) |
M1075R |
probably benign |
Het |
| Amh |
A |
G |
10: 80,641,338 (GRCm39) |
Q86R |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,124,611 (GRCm39) |
Y951H |
probably damaging |
Het |
| Arhgap26 |
G |
T |
18: 39,232,682 (GRCm39) |
R119L |
probably damaging |
Het |
| Arl8a |
A |
G |
1: 135,074,735 (GRCm39) |
K7R |
probably benign |
Het |
| Birc6 |
T |
G |
17: 74,937,984 (GRCm39) |
S2638A |
probably benign |
Het |
| Ccdc162 |
T |
G |
10: 41,457,349 (GRCm39) |
Q256H |
probably damaging |
Het |
| Cenpe |
T |
A |
3: 134,940,888 (GRCm39) |
L679Q |
probably damaging |
Het |
| Cpa5 |
T |
A |
6: 30,625,891 (GRCm39) |
H203Q |
probably benign |
Het |
| Cpne9 |
A |
T |
6: 113,277,544 (GRCm39) |
D421V |
possibly damaging |
Het |
| Cux1 |
A |
T |
5: 136,308,502 (GRCm39) |
C1212* |
probably null |
Het |
| Dock9 |
G |
A |
14: 121,864,791 (GRCm39) |
H736Y |
probably damaging |
Het |
| Dpp3 |
A |
T |
19: 4,971,195 (GRCm39) |
V214E |
probably damaging |
Het |
| Dtx3 |
T |
C |
10: 127,028,746 (GRCm39) |
E161G |
probably benign |
Het |
| Ect2 |
A |
T |
3: 27,156,637 (GRCm39) |
Y774* |
probably null |
Het |
| Enpep |
G |
T |
3: 129,074,599 (GRCm39) |
P717H |
probably damaging |
Het |
| Erich3 |
A |
T |
3: 154,469,314 (GRCm39) |
|
probably benign |
Het |
| Fbp2 |
C |
T |
13: 63,005,991 (GRCm39) |
A41T |
probably damaging |
Het |
| Fbxl21 |
T |
C |
13: 56,674,874 (GRCm39) |
V75A |
probably damaging |
Het |
| Fkbp5 |
C |
T |
17: 28,634,919 (GRCm39) |
D197N |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,807,298 (GRCm39) |
T1206A |
probably benign |
Het |
| Ggt7 |
A |
G |
2: 155,345,380 (GRCm39) |
V156A |
probably benign |
Het |
| Gpi1 |
T |
C |
7: 33,901,945 (GRCm39) |
K156R |
probably damaging |
Het |
| Gpx5 |
T |
C |
13: 21,471,669 (GRCm39) |
D178G |
probably damaging |
Het |
| Grm7 |
G |
A |
6: 111,184,766 (GRCm39) |
E366K |
probably damaging |
Het |
| Haao |
T |
C |
17: 84,139,103 (GRCm39) |
Q277R |
probably damaging |
Het |
| Lama1 |
T |
C |
17: 68,060,753 (GRCm39) |
S694P |
|
Het |
| Lrp10 |
A |
G |
14: 54,705,950 (GRCm39) |
D380G |
probably benign |
Het |
| Lrp2 |
C |
A |
2: 69,302,799 (GRCm39) |
D2977Y |
probably damaging |
Het |
| Map2 |
T |
A |
1: 66,454,065 (GRCm39) |
M985K |
probably benign |
Het |
| Met |
C |
A |
6: 17,535,927 (GRCm39) |
N784K |
possibly damaging |
Het |
| Met |
T |
A |
6: 17,535,928 (GRCm39) |
Y65N |
probably damaging |
Het |
| Muc6 |
T |
G |
7: 141,226,246 (GRCm39) |
|
probably benign |
Het |
| Numbl |
T |
A |
7: 26,980,265 (GRCm39) |
W416R |
probably damaging |
Het |
| Pcca |
G |
A |
14: 122,887,700 (GRCm39) |
G102D |
probably damaging |
Het |
| Pira13 |
T |
A |
7: 3,825,163 (GRCm39) |
Y493F |
possibly damaging |
Het |
| Psmc2 |
T |
A |
5: 22,006,217 (GRCm39) |
F243L |
possibly damaging |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Rpn1 |
G |
T |
6: 88,076,285 (GRCm39) |
V357L |
probably benign |
Het |
| Rtn3 |
A |
G |
19: 7,433,856 (GRCm39) |
F712S |
possibly damaging |
Het |
| Scgb1b10 |
T |
A |
7: 31,800,574 (GRCm39) |
D54E |
probably benign |
Het |
| Scn5a |
A |
G |
9: 119,315,395 (GRCm39) |
I1771T |
probably damaging |
Het |
| Sec14l1 |
A |
G |
11: 117,047,220 (GRCm39) |
I633V |
probably damaging |
Het |
| Slc17a6 |
T |
C |
7: 51,311,224 (GRCm39) |
Y313H |
possibly damaging |
Het |
| Slc18a1 |
G |
A |
8: 69,491,514 (GRCm39) |
T500I |
probably benign |
Het |
| Slx4 |
G |
A |
16: 3,813,702 (GRCm39) |
A93V |
probably damaging |
Het |
| Stat4 |
T |
C |
1: 52,107,974 (GRCm39) |
S148P |
probably benign |
Het |
| Tbc1d15 |
A |
T |
10: 115,045,474 (GRCm39) |
C497S |
probably damaging |
Het |
| Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
| Trav3-3 |
C |
A |
14: 53,903,802 (GRCm39) |
P40Q |
possibly damaging |
Het |
| Trpv6 |
A |
T |
6: 41,602,390 (GRCm39) |
L332Q |
probably damaging |
Het |
| Ube2t |
T |
G |
1: 134,897,033 (GRCm39) |
V55G |
probably damaging |
Het |
| Ufm1 |
T |
C |
3: 53,765,402 (GRCm39) |
K69E |
probably damaging |
Het |
| Utp20 |
T |
C |
10: 88,614,102 (GRCm39) |
D1284G |
probably benign |
Het |
| Vil1 |
C |
T |
1: 74,463,113 (GRCm39) |
T432I |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,448,727 (GRCm39) |
I567K |
probably benign |
Het |
| Zfp236 |
A |
T |
18: 82,646,488 (GRCm39) |
V1023D |
probably damaging |
Het |
| Zfp429 |
A |
G |
13: 67,538,080 (GRCm39) |
Y455H |
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 |
|
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'- TGTATTGCCTCTACAGTGCCG -3'
(R):5'- GCACACAGTAATCGAGGGAC -3'
Sequencing Primer
(F):5'- ACAGTGCCGTTCCCTTCATTG -3'
(R):5'- TCTGATTCTTAACGGCAAA -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation