Incidental Mutation 'R0417:Nup160'
| ID |
40369 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup160
|
| Ensembl Gene |
ENSMUSG00000051329 |
| Gene Name |
nucleoporin 160 |
| Synonyms |
Gtl1-13, 2810011M03Rik |
| MMRRC Submission |
038619-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
R0417 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
90507559-90566672 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 90565771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 1378
(I1378F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059289
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057481]
|
| AlphaFold |
Q9Z0W3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057481
AA Change: I1378F
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000059289
Gene: ENSMUSG00000051329
AA Change: I1378F
| 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: ENSMUST00000126503
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 73,199,244 (GRCm39) |
K217R |
probably damaging |
Het |
| 1810024B03Rik |
A |
G |
2: 127,028,864 (GRCm39) |
Y112H |
probably damaging |
Het |
| Acot2 |
T |
C |
12: 84,037,387 (GRCm39) |
Y234H |
probably benign |
Het |
| Alox12e |
C |
T |
11: 70,212,691 (GRCm39) |
V53I |
probably benign |
Het |
| Ankrd50 |
T |
C |
3: 38,510,510 (GRCm39) |
H619R |
probably damaging |
Het |
| Arfgef3 |
A |
T |
10: 18,479,259 (GRCm39) |
L1452Q |
probably damaging |
Het |
| Arhgap42 |
T |
C |
9: 9,180,034 (GRCm39) |
S82G |
possibly damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,438,957 (GRCm39) |
|
probably benign |
Het |
| Bicra |
C |
A |
7: 15,706,247 (GRCm39) |
R1398L |
probably damaging |
Het |
| Boc |
T |
C |
16: 44,340,597 (GRCm39) |
T118A |
probably benign |
Het |
| Btnl9 |
A |
G |
11: 49,066,422 (GRCm39) |
Y381H |
probably damaging |
Het |
| Cbln3 |
T |
G |
14: 56,121,586 (GRCm39) |
E20A |
probably benign |
Het |
| Cdc42ep5 |
A |
G |
7: 4,154,482 (GRCm39) |
L102P |
probably damaging |
Het |
| Csrnp3 |
A |
G |
2: 65,849,887 (GRCm39) |
Y171C |
probably benign |
Het |
| Cyp2d9 |
A |
T |
15: 82,340,152 (GRCm39) |
I181F |
probably damaging |
Het |
| Cyp7b1 |
T |
A |
3: 18,150,855 (GRCm39) |
T295S |
probably damaging |
Het |
| Dbn1 |
C |
T |
13: 55,622,729 (GRCm39) |
E585K |
probably damaging |
Het |
| Dok1 |
A |
T |
6: 83,008,550 (GRCm39) |
D377E |
probably damaging |
Het |
| Eed |
A |
T |
7: 89,620,760 (GRCm39) |
Y87* |
probably null |
Het |
| Entpd3 |
T |
C |
9: 120,386,487 (GRCm39) |
V156A |
probably damaging |
Het |
| Exo5 |
T |
A |
4: 120,779,269 (GRCm39) |
T199S |
probably damaging |
Het |
| Extl2 |
T |
C |
3: 115,818,006 (GRCm39) |
I106T |
probably benign |
Het |
| Ezh2 |
A |
G |
6: 47,528,660 (GRCm39) |
C291R |
probably benign |
Het |
| Flvcr1 |
A |
T |
1: 190,743,416 (GRCm39) |
M466K |
probably benign |
Het |
| Fras1 |
G |
T |
5: 96,839,231 (GRCm39) |
M1583I |
probably benign |
Het |
| Fzd9 |
G |
T |
5: 135,278,473 (GRCm39) |
R471S |
probably damaging |
Het |
| Galr1 |
A |
T |
18: 82,423,665 (GRCm39) |
F204Y |
probably damaging |
Het |
| Gna11 |
A |
T |
10: 81,366,738 (GRCm39) |
I324N |
probably damaging |
Het |
| Gucy1a2 |
A |
G |
9: 3,759,484 (GRCm39) |
E430G |
possibly damaging |
Het |
| Hhatl |
C |
T |
9: 121,617,828 (GRCm39) |
A254T |
probably benign |
Het |
| Ikzf1 |
A |
C |
11: 11,719,352 (GRCm39) |
N353T |
probably benign |
Het |
| Il7 |
T |
A |
3: 7,641,087 (GRCm39) |
T110S |
probably damaging |
Het |
| Keg1 |
A |
G |
19: 12,688,424 (GRCm39) |
N53D |
probably damaging |
Het |
| Klhl21 |
T |
C |
4: 152,099,964 (GRCm39) |
I558T |
probably damaging |
Het |
| Lca5l |
G |
A |
16: 95,963,853 (GRCm39) |
T357M |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,622,961 (GRCm39) |
S2448P |
probably damaging |
Het |
| Map3k6 |
T |
A |
4: 132,975,393 (GRCm39) |
Y709* |
probably null |
Het |
| Megf6 |
A |
G |
4: 154,352,424 (GRCm39) |
E1261G |
probably benign |
Het |
| Mettl3 |
C |
T |
14: 52,534,155 (GRCm39) |
G473D |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,733,271 (GRCm39) |
I40V |
probably damaging |
Het |
| Mmp13 |
T |
A |
9: 7,276,602 (GRCm39) |
D232E |
probably benign |
Het |
| Nampt |
T |
C |
12: 32,883,100 (GRCm39) |
V95A |
probably benign |
Het |
| Nbeal1 |
T |
C |
1: 60,286,893 (GRCm39) |
V905A |
probably benign |
Het |
| Nomo1 |
A |
T |
7: 45,718,122 (GRCm39) |
E840V |
possibly damaging |
Het |
| Nprl2 |
A |
T |
9: 107,420,497 (GRCm39) |
I101F |
probably damaging |
Het |
| Ogdhl |
T |
C |
14: 32,048,936 (GRCm39) |
S69P |
probably damaging |
Het |
| Or2y17 |
T |
A |
11: 49,231,500 (GRCm39) |
I47N |
possibly damaging |
Het |
| Or4a68 |
C |
A |
2: 89,270,519 (GRCm39) |
V35L |
possibly damaging |
Het |
| Or4k77 |
A |
G |
2: 111,199,450 (GRCm39) |
S158G |
possibly damaging |
Het |
| Or5be3 |
A |
T |
2: 86,863,789 (GRCm39) |
Y259N |
probably damaging |
Het |
| Or8b12i |
G |
A |
9: 20,082,510 (GRCm39) |
A119V |
probably damaging |
Het |
| Or8c16 |
A |
G |
9: 38,130,751 (GRCm39) |
I211V |
probably benign |
Het |
| Or8c8 |
T |
C |
9: 38,165,160 (GRCm39) |
F149S |
probably benign |
Het |
| Osbpl3 |
C |
T |
6: 50,324,998 (GRCm39) |
V167I |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,763,036 (GRCm39) |
H3836Q |
unknown |
Het |
| Prkcg |
A |
T |
7: 3,352,820 (GRCm39) |
|
probably null |
Het |
| Ror1 |
A |
T |
4: 100,269,197 (GRCm39) |
H345L |
possibly damaging |
Het |
| Slc36a2 |
C |
T |
11: 55,072,370 (GRCm39) |
|
probably null |
Het |
| Slc40a1 |
G |
A |
1: 45,950,534 (GRCm39) |
P306L |
possibly damaging |
Het |
| Slc9a8 |
C |
A |
2: 167,299,264 (GRCm39) |
T239K |
probably benign |
Het |
| Snapc3 |
A |
G |
4: 83,368,399 (GRCm39) |
I299V |
probably benign |
Het |
| Sp3 |
G |
A |
2: 72,801,845 (GRCm39) |
A56V |
possibly damaging |
Het |
| Spag17 |
T |
A |
3: 99,972,870 (GRCm39) |
S1361T |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,787,954 (GRCm39) |
T978A |
probably benign |
Het |
| Stom |
C |
A |
2: 35,211,644 (GRCm39) |
V126F |
probably damaging |
Het |
| Stpg2 |
A |
G |
3: 138,924,082 (GRCm39) |
T162A |
probably damaging |
Het |
| Stxbp6 |
G |
A |
12: 44,949,740 (GRCm39) |
T63M |
probably damaging |
Het |
| Tatdn1 |
A |
C |
15: 58,793,199 (GRCm39) |
I69S |
probably benign |
Het |
| Tbata |
A |
T |
10: 61,016,118 (GRCm39) |
D198V |
probably damaging |
Het |
| Tbc1d5 |
T |
C |
17: 51,063,733 (GRCm39) |
I638V |
probably benign |
Het |
| Tomm70a |
A |
G |
16: 56,970,266 (GRCm39) |
D548G |
probably benign |
Het |
| Ust |
A |
G |
10: 8,121,700 (GRCm39) |
F303L |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,703,130 (GRCm39) |
S4306P |
probably benign |
Het |
| Zbed6 |
A |
T |
1: 133,586,276 (GRCm39) |
S354T |
probably benign |
Het |
| Zfp691 |
A |
G |
4: 119,027,693 (GRCm39) |
S180P |
possibly 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 |
|
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 |
|
|
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'- ACTTGCACTTGGGGAGACTAAAGC -3'
(R):5'- TGTGCAGAATGCAGACTTGGGC -3'
Sequencing Primer
(F):5'- tgggaggcagaggcagg -3'
(R):5'- CGCCAGACACATCGTTTATAGTTAG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation