Incidental Mutation 'R1565:Nup160'
| ID |
175178 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup160
|
| Ensembl Gene |
ENSMUSG00000051329 |
| Gene Name |
nucleoporin 160 |
| Synonyms |
Gtl1-13, 2810011M03Rik |
| MMRRC Submission |
039604-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.971)
|
| Stock # |
R1565 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
90677215-90736328 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 90722061 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 1127
(N1127I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000059289
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057481]
|
| AlphaFold |
Q9Z0W3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057481
AA Change: N1127I
PolyPhen 2
Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000059289
Gene: ENSMUSG00000051329
AA Change: N1127I
| 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 |
0.0627 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.0%
|
| Validation Efficiency |
96% (82/85) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
G |
A |
11: 58,880,501 (GRCm38) |
G270S |
probably benign |
Het |
| Abtb1 |
T |
C |
6: 88,836,554 (GRCm38) |
T401A |
probably benign |
Het |
| Adamts14 |
A |
T |
10: 61,270,897 (GRCm38) |
M148K |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,268,957 (GRCm38) |
E508G |
probably damaging |
Het |
| Ankfy1 |
T |
A |
11: 72,757,318 (GRCm38) |
L875H |
probably damaging |
Het |
| Cacng3 |
A |
T |
7: 122,768,401 (GRCm38) |
D168V |
probably damaging |
Het |
| Clpb |
G |
A |
7: 101,785,461 (GRCm38) |
R488Q |
probably benign |
Het |
| Cpxm2 |
A |
T |
7: 132,062,145 (GRCm38) |
Y350N |
probably damaging |
Het |
| D130040H23Rik |
T |
A |
8: 69,303,160 (GRCm38) |
*406R |
probably null |
Het |
| Dnah10 |
T |
A |
5: 124,829,614 (GRCm38) |
D4236E |
probably damaging |
Het |
| Dpf3 |
T |
A |
12: 83,370,617 (GRCm38) |
Y27F |
probably damaging |
Het |
| Esp4 |
T |
C |
17: 40,602,595 (GRCm38) |
*118Q |
probably null |
Het |
| Fam222b |
T |
C |
11: 78,154,662 (GRCm38) |
S222P |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,455,171 (GRCm38) |
V1933A |
probably damaging |
Het |
| Gem |
T |
C |
4: 11,713,709 (GRCm38) |
F282L |
possibly damaging |
Het |
| Gli2 |
T |
C |
1: 118,841,930 (GRCm38) |
T631A |
possibly damaging |
Het |
| Gm13088 |
G |
A |
4: 143,655,617 (GRCm38) |
Q170* |
probably null |
Het |
| Gpld1 |
T |
A |
13: 24,956,068 (GRCm38) |
V116E |
probably damaging |
Het |
| Gpr176 |
A |
G |
2: 118,280,214 (GRCm38) |
M188T |
probably benign |
Het |
| Grk5 |
T |
C |
19: 61,089,972 (GRCm38) |
V489A |
probably damaging |
Het |
| H2-Ke6 |
C |
T |
17: 34,027,495 (GRCm38) |
V105I |
possibly damaging |
Het |
| Hpdl |
T |
C |
4: 116,820,883 (GRCm38) |
N127S |
probably damaging |
Het |
| Id4 |
G |
T |
13: 48,262,294 (GRCm38) |
V151L |
possibly damaging |
Het |
| Kcnh8 |
G |
T |
17: 52,956,881 (GRCm38) |
G802V |
probably benign |
Het |
| Lamc1 |
C |
A |
1: 153,242,743 (GRCm38) |
S894I |
probably benign |
Het |
| Larp1b |
A |
G |
3: 40,972,384 (GRCm38) |
N184S |
probably damaging |
Het |
| Lhx1 |
A |
T |
11: 84,519,821 (GRCm38) |
S226T |
probably benign |
Het |
| Lmo7 |
A |
T |
14: 101,887,521 (GRCm38) |
Q472L |
probably damaging |
Het |
| Mog |
G |
C |
17: 37,017,582 (GRCm38) |
N152K |
possibly damaging |
Het |
| Mttp |
A |
G |
3: 138,116,405 (GRCm38) |
|
probably null |
Het |
| Mycbp2 |
A |
G |
14: 103,252,509 (GRCm38) |
V953A |
possibly damaging |
Het |
| Myo3a |
A |
T |
2: 22,340,280 (GRCm38) |
Y509F |
probably damaging |
Het |
| Myo9b |
A |
G |
8: 71,315,192 (GRCm38) |
N303S |
possibly damaging |
Het |
| Nek3 |
T |
C |
8: 22,132,201 (GRCm38) |
|
probably null |
Het |
| Nlrc4 |
A |
T |
17: 74,441,931 (GRCm38) |
D771E |
probably benign |
Het |
| Oas1h |
A |
T |
5: 120,862,600 (GRCm38) |
N91I |
probably damaging |
Het |
| Olfr1225 |
A |
T |
2: 89,170,627 (GRCm38) |
V195D |
probably benign |
Het |
| Olfr1226 |
G |
T |
2: 89,193,883 (GRCm38) |
S50R |
probably damaging |
Het |
| Olfr1342 |
T |
A |
4: 118,690,192 (GRCm38) |
N87Y |
probably damaging |
Het |
| Parp4 |
T |
C |
14: 56,589,872 (GRCm38) |
|
probably benign |
Het |
| Pi4ka |
G |
A |
16: 17,281,900 (GRCm38) |
C96Y |
probably null |
Het |
| Pira2 |
A |
T |
7: 3,844,549 (GRCm38) |
F47Y |
probably damaging |
Het |
| Pkhd1 |
C |
A |
1: 20,347,457 (GRCm38) |
G2490V |
probably damaging |
Het |
| Plekhg1 |
C |
T |
10: 3,940,526 (GRCm38) |
T394I |
probably damaging |
Het |
| Psmd1 |
T |
C |
1: 86,091,997 (GRCm38) |
|
probably benign |
Het |
| Rab3ip |
A |
T |
10: 116,939,223 (GRCm38) |
C77S |
probably benign |
Het |
| Reln |
A |
T |
5: 21,925,213 (GRCm38) |
M2700K |
probably benign |
Het |
| Rfx1 |
A |
G |
8: 84,073,946 (GRCm38) |
T59A |
probably benign |
Het |
| Ric8b |
G |
T |
10: 84,980,099 (GRCm38) |
V405L |
probably benign |
Het |
| Rufy3 |
G |
T |
5: 88,640,632 (GRCm38) |
A479S |
probably damaging |
Het |
| Sardh |
A |
T |
2: 27,242,719 (GRCm38) |
Y166N |
probably damaging |
Het |
| Slamf6 |
T |
G |
1: 171,934,408 (GRCm38) |
V132G |
possibly damaging |
Het |
| Slc12a3 |
T |
G |
8: 94,345,877 (GRCm38) |
H674Q |
possibly damaging |
Het |
| Sned1 |
G |
A |
1: 93,281,654 (GRCm38) |
V830M |
possibly damaging |
Het |
| Srsf9 |
A |
G |
5: 115,327,370 (GRCm38) |
N21S |
possibly damaging |
Het |
| Stkld1 |
A |
T |
2: 26,950,090 (GRCm38) |
T391S |
probably benign |
Het |
| Sumf2 |
C |
A |
5: 129,859,914 (GRCm38) |
N230K |
probably damaging |
Het |
| Tbc1d22a |
T |
C |
15: 86,235,569 (GRCm38) |
V22A |
possibly damaging |
Het |
| Thsd7b |
T |
A |
1: 129,596,041 (GRCm38) |
S194T |
possibly damaging |
Het |
| Tmem27 |
A |
G |
X: 164,118,234 (GRCm38) |
D184G |
possibly damaging |
Het |
| Tnn |
T |
A |
1: 160,097,265 (GRCm38) |
Y1173F |
probably damaging |
Het |
| Top2a |
A |
G |
11: 99,001,054 (GRCm38) |
F1122L |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 73,025,967 (GRCm38) |
R377W |
probably damaging |
Het |
| Trim39 |
G |
A |
17: 36,268,854 (GRCm38) |
R70W |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,794,261 (GRCm38) |
T15289I |
probably damaging |
Het |
| Ugt2b38 |
A |
T |
5: 87,411,914 (GRCm38) |
V373E |
probably damaging |
Het |
| Usp54 |
A |
G |
14: 20,607,159 (GRCm38) |
S24P |
probably damaging |
Het |
| Vmn2r27 |
C |
T |
6: 124,231,634 (GRCm38) |
G51S |
probably benign |
Het |
| Xylt2 |
C |
T |
11: 94,667,594 (GRCm38) |
A579T |
probably benign |
Het |
| Zbtb21 |
A |
G |
16: 97,952,427 (GRCm38) |
S247P |
probably benign |
Het |
| Zc3h7b |
C |
T |
15: 81,777,088 (GRCm38) |
P376L |
probably benign |
Het |
| Zfp251 |
T |
A |
15: 76,853,038 (GRCm38) |
R613S |
probably damaging |
Het |
| Zfp251 |
C |
T |
15: 76,853,039 (GRCm38) |
R613K |
possibly damaging |
Het |
| Zfp91 |
T |
C |
19: 12,779,075 (GRCm38) |
D135G |
probably benign |
Het |
|
| Other mutations in Nup160 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00898:Nup160
|
APN |
2 |
90,693,106 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00938:Nup160
|
APN |
2 |
90,732,827 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01111:Nup160
|
APN |
2 |
90,733,209 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01140:Nup160
|
APN |
2 |
90,700,565 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
IGL01348:Nup160
|
APN |
2 |
90,700,428 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL01361:Nup160
|
APN |
2 |
90,684,012 (GRCm38) |
nonsense |
probably null |
|
|
IGL01595:Nup160
|
APN |
2 |
90,729,737 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01791:Nup160
|
APN |
2 |
90,703,853 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02058:Nup160
|
APN |
2 |
90,729,707 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02147:Nup160
|
APN |
2 |
90,703,941 (GRCm38) |
missense |
probably benign |
0.17 |
|
IGL02250:Nup160
|
APN |
2 |
90,708,870 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02507:Nup160
|
APN |
2 |
90,729,735 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL03108:Nup160
|
APN |
2 |
90,703,825 (GRCm38) |
missense |
probably benign |
|
|
R0031:Nup160
|
UTSW |
2 |
90,717,587 (GRCm38) |
splice site |
probably null |
|
|
R0365:Nup160
|
UTSW |
2 |
90,708,844 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0417:Nup160
|
UTSW |
2 |
90,735,427 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R0781:Nup160
|
UTSW |
2 |
90,733,219 (GRCm38) |
splice site |
probably benign |
|
|
R1037:Nup160
|
UTSW |
2 |
90,693,902 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1110:Nup160
|
UTSW |
2 |
90,733,219 (GRCm38) |
splice site |
probably benign |
|
|
R1459:Nup160
|
UTSW |
2 |
90,690,150 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1468:Nup160
|
UTSW |
2 |
90,700,543 (GRCm38) |
missense |
probably benign |
|
|
R1468:Nup160
|
UTSW |
2 |
90,700,543 (GRCm38) |
missense |
probably benign |
|
|
R1478:Nup160
|
UTSW |
2 |
90,679,399 (GRCm38) |
start gained |
probably benign |
|
|
R1617:Nup160
|
UTSW |
2 |
90,679,499 (GRCm38) |
missense |
probably benign |
|
|
R1647:Nup160
|
UTSW |
2 |
90,710,088 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1648:Nup160
|
UTSW |
2 |
90,710,088 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1702:Nup160
|
UTSW |
2 |
90,683,958 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1719:Nup160
|
UTSW |
2 |
90,700,436 (GRCm38) |
nonsense |
probably null |
|
|
R2448:Nup160
|
UTSW |
2 |
90,722,057 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3775:Nup160
|
UTSW |
2 |
90,722,076 (GRCm38) |
missense |
probably benign |
|
|
R3776:Nup160
|
UTSW |
2 |
90,722,076 (GRCm38) |
missense |
probably benign |
|
|
R4600:Nup160
|
UTSW |
2 |
90,685,197 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4812:Nup160
|
UTSW |
2 |
90,725,691 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5075:Nup160
|
UTSW |
2 |
90,700,174 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5309:Nup160
|
UTSW |
2 |
90,732,832 (GRCm38) |
nonsense |
probably null |
|
|
R5312:Nup160
|
UTSW |
2 |
90,732,832 (GRCm38) |
nonsense |
probably null |
|
|
R5447:Nup160
|
UTSW |
2 |
90,725,615 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5682:Nup160
|
UTSW |
2 |
90,679,811 (GRCm38) |
missense |
probably benign |
0.29 |
|
R5726:Nup160
|
UTSW |
2 |
90,717,851 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5771:Nup160
|
UTSW |
2 |
90,723,396 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5825:Nup160
|
UTSW |
2 |
90,679,770 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R5851:Nup160
|
UTSW |
2 |
90,707,038 (GRCm38) |
missense |
probably benign |
|
|
R5988:Nup160
|
UTSW |
2 |
90,689,209 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6151:Nup160
|
UTSW |
2 |
90,690,105 (GRCm38) |
nonsense |
probably null |
|
|
R6164:Nup160
|
UTSW |
2 |
90,717,876 (GRCm38) |
nonsense |
probably null |
|
|
R6356:Nup160
|
UTSW |
2 |
90,711,935 (GRCm38) |
splice site |
probably null |
|
|
R6379:Nup160
|
UTSW |
2 |
90,702,409 (GRCm38) |
nonsense |
probably null |
|
|
R6519:Nup160
|
UTSW |
2 |
90,718,217 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6755:Nup160
|
UTSW |
2 |
90,700,456 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6989:Nup160
|
UTSW |
2 |
90,707,020 (GRCm38) |
missense |
probably benign |
0.34 |
|
R7251:Nup160
|
UTSW |
2 |
90,700,174 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7256:Nup160
|
UTSW |
2 |
90,723,355 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7353:Nup160
|
UTSW |
2 |
90,703,952 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7546:Nup160
|
UTSW |
2 |
90,685,058 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7761:Nup160
|
UTSW |
2 |
90,703,112 (GRCm38) |
missense |
probably benign |
|
|
R7768:Nup160
|
UTSW |
2 |
90,700,116 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7959:Nup160
|
UTSW |
2 |
90,713,895 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8525:Nup160
|
UTSW |
2 |
90,718,096 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8726:Nup160
|
UTSW |
2 |
90,733,201 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R8745:Nup160
|
UTSW |
2 |
90,700,119 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8989:Nup160
|
UTSW |
2 |
90,717,864 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9087:Nup160
|
UTSW |
2 |
90,684,085 (GRCm38) |
missense |
probably benign |
0.09 |
|
R9147:Nup160
|
UTSW |
2 |
90,703,145 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9148:Nup160
|
UTSW |
2 |
90,703,145 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9149:Nup160
|
UTSW |
2 |
90,722,241 (GRCm38) |
intron |
probably benign |
|
|
R9153:Nup160
|
UTSW |
2 |
90,684,085 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R9284:Nup160
|
UTSW |
2 |
90,718,031 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9435:Nup160
|
UTSW |
2 |
90,729,794 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9537:Nup160
|
UTSW |
2 |
90,729,744 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R9695:Nup160
|
UTSW |
2 |
90,708,142 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCCTGTGAAAGAGTTATGCCAAC -3'
(R):5'- ATGCAACACACTTTTGCTTTCTAGCC -3'
Sequencing Primer
(F):5'- CCTTGCCAGGTATCATACATTCT -3'
(R):5'- acagaagcacagcatagtcc -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation