Incidental Mutation 'R5726:Nup160'
ID |
452472 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nup160
|
Ensembl Gene |
ENSMUSG00000051329 |
Gene Name |
nucleoporin 160 |
Synonyms |
Gtl1-13, 2810011M03Rik |
MMRRC Submission |
043344-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
R5726 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
90507559-90566672 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 90548195 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 976
(D976G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000059289
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057481]
|
AlphaFold |
Q9Z0W3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057481
AA Change: D976G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000059289 Gene: ENSMUSG00000051329 AA Change: D976G
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: ENSMUST00000132595
|
Meta Mutation Damage Score |
0.1703 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
100% (72/72) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130023H24Rik |
T |
C |
7: 127,835,832 (GRCm39) |
K254E |
probably damaging |
Het |
Aak1 |
C |
T |
6: 86,902,106 (GRCm39) |
Q92* |
probably null |
Het |
Acss3 |
T |
C |
10: 106,959,183 (GRCm39) |
T88A |
possibly damaging |
Het |
Adcy4 |
A |
T |
14: 56,021,118 (GRCm39) |
S6R |
probably damaging |
Het |
Aldh1l2 |
T |
C |
10: 83,348,170 (GRCm39) |
E311G |
possibly damaging |
Het |
Arhgap25 |
C |
T |
6: 87,440,441 (GRCm39) |
S402N |
probably benign |
Het |
Btn1a1 |
T |
A |
13: 23,643,522 (GRCm39) |
D309V |
probably damaging |
Het |
Cdh23 |
C |
T |
10: 60,243,259 (GRCm39) |
V1037M |
probably damaging |
Het |
Clcn2 |
T |
C |
16: 20,529,285 (GRCm39) |
|
probably benign |
Het |
Cln3 |
T |
C |
7: 126,174,673 (GRCm39) |
T276A |
probably null |
Het |
CN725425 |
A |
G |
15: 91,144,706 (GRCm39) |
E523G |
possibly damaging |
Het |
Crppa |
T |
C |
12: 36,597,829 (GRCm39) |
V320A |
probably damaging |
Het |
Cspg4 |
A |
T |
9: 56,793,188 (GRCm39) |
T308S |
probably damaging |
Het |
Dgkh |
G |
T |
14: 78,862,342 (GRCm39) |
F208L |
probably benign |
Het |
Eif2ak4 |
A |
G |
2: 118,273,613 (GRCm39) |
D846G |
probably damaging |
Het |
Fmo4 |
A |
G |
1: 162,635,828 (GRCm39) |
|
probably null |
Het |
Foxp4 |
A |
G |
17: 48,180,033 (GRCm39) |
Y623H |
unknown |
Het |
Fxr2 |
T |
C |
11: 69,524,172 (GRCm39) |
V10A |
probably benign |
Het |
Gm10271 |
T |
C |
10: 116,792,792 (GRCm39) |
|
probably null |
Het |
Gsk3b |
T |
C |
16: 38,028,498 (GRCm39) |
|
probably benign |
Het |
Ift43 |
T |
A |
12: 86,208,957 (GRCm39) |
D169E |
probably damaging |
Het |
Ift57 |
T |
A |
16: 49,519,861 (GRCm39) |
L54H |
probably damaging |
Het |
Ighv1-37 |
T |
C |
12: 114,860,294 (GRCm39) |
|
probably benign |
Het |
Kl |
A |
G |
5: 150,915,003 (GRCm39) |
N910S |
possibly damaging |
Het |
Lrp2 |
T |
C |
2: 69,339,491 (GRCm39) |
D1140G |
probably damaging |
Het |
Map1a |
G |
A |
2: 121,135,546 (GRCm39) |
A1883T |
probably damaging |
Het |
Map4k2 |
G |
T |
19: 6,401,362 (GRCm39) |
G611C |
probably damaging |
Het |
Mical1 |
A |
G |
10: 41,359,692 (GRCm39) |
|
probably benign |
Het |
Myh14 |
A |
G |
7: 44,292,886 (GRCm39) |
|
probably null |
Het |
Myh8 |
T |
A |
11: 67,185,392 (GRCm39) |
V881D |
possibly damaging |
Het |
Myo1g |
G |
T |
11: 6,459,420 (GRCm39) |
Q817K |
probably benign |
Het |
Nin |
A |
C |
12: 70,124,953 (GRCm39) |
V123G |
probably damaging |
Het |
Nup210l |
A |
T |
3: 90,036,514 (GRCm39) |
|
probably null |
Het |
Or5an1c |
A |
G |
19: 12,218,644 (GRCm39) |
I127T |
probably damaging |
Het |
Phf14 |
T |
C |
6: 11,933,537 (GRCm39) |
|
probably benign |
Het |
Podxl2 |
T |
C |
6: 88,825,721 (GRCm39) |
D400G |
probably damaging |
Het |
Pygl |
C |
T |
12: 70,237,916 (GRCm39) |
W707* |
probably null |
Het |
Rnf19b |
T |
C |
4: 128,965,685 (GRCm39) |
V261A |
possibly damaging |
Het |
Rnf213 |
A |
G |
11: 119,307,284 (GRCm39) |
Y648C |
probably damaging |
Het |
Scn5a |
C |
T |
9: 119,362,913 (GRCm39) |
R569H |
probably damaging |
Het |
Sdk2 |
A |
G |
11: 113,742,626 (GRCm39) |
L761P |
probably damaging |
Het |
Shroom3 |
C |
T |
5: 93,090,864 (GRCm39) |
P1124S |
probably benign |
Het |
Sirt4 |
A |
G |
5: 115,617,705 (GRCm39) |
V317A |
probably benign |
Het |
Skic3 |
T |
C |
13: 76,266,466 (GRCm39) |
Y238H |
probably damaging |
Het |
Slc12a2 |
G |
T |
18: 58,029,426 (GRCm39) |
A271S |
probably benign |
Het |
Slc6a9 |
A |
G |
4: 117,721,210 (GRCm39) |
Y208C |
probably damaging |
Het |
Snap23 |
T |
A |
2: 120,414,752 (GRCm39) |
|
probably benign |
Het |
Sra1 |
C |
T |
18: 36,803,226 (GRCm39) |
|
probably benign |
Het |
Srbd1 |
C |
T |
17: 86,428,157 (GRCm39) |
D359N |
possibly damaging |
Het |
Srp19 |
A |
G |
18: 34,464,826 (GRCm39) |
Y22C |
probably damaging |
Het |
Sstr4 |
T |
C |
2: 148,238,003 (GRCm39) |
S205P |
probably damaging |
Het |
Sv2b |
T |
C |
7: 74,773,962 (GRCm39) |
D503G |
possibly damaging |
Het |
Tbc1d30 |
C |
T |
10: 121,103,479 (GRCm39) |
V518M |
probably damaging |
Het |
Tlr4 |
A |
G |
4: 66,758,652 (GRCm39) |
K482E |
probably benign |
Het |
Tpm1 |
G |
A |
9: 66,930,694 (GRCm39) |
L310F |
probably damaging |
Het |
Trpm6 |
A |
G |
19: 18,830,981 (GRCm39) |
Y1282C |
probably damaging |
Het |
Tsc22d1 |
T |
A |
14: 76,742,757 (GRCm39) |
L65* |
probably null |
Het |
Ttc39c |
C |
A |
18: 12,830,992 (GRCm39) |
A284D |
probably damaging |
Het |
Txndc16 |
G |
A |
14: 45,403,221 (GRCm39) |
H297Y |
probably benign |
Het |
Utrn |
A |
T |
10: 12,545,550 (GRCm39) |
D1698E |
probably benign |
Het |
Vmn1r232 |
C |
T |
17: 21,133,601 (GRCm39) |
R333H |
probably benign |
Het |
Vmn2r14 |
A |
T |
5: 109,365,486 (GRCm39) |
D529E |
possibly damaging |
Het |
Vmn2r70 |
C |
T |
7: 85,208,315 (GRCm39) |
V721I |
probably damaging |
Het |
Zbtb18 |
A |
G |
1: 177,276,119 (GRCm39) |
H484R |
probably damaging |
Het |
Zc3h13 |
T |
A |
14: 75,568,269 (GRCm39) |
S1187R |
possibly damaging |
Het |
Zfhx4 |
T |
A |
3: 5,468,381 (GRCm39) |
D2846E |
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 |
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'- GCAATTACTGAAGCAGGTGATGAC -3'
(R):5'- CAGTTGGGAGCGTTCACATAG -3'
Sequencing Primer
(F):5'- CTGAAGCAGGTGATGACTGGAAAAG -3'
(R):5'- TAGAACCACCACCAGCTGTCG -3'
|
Posted On |
2017-01-03 |