Incidental Mutation 'R2160:Nup58'
| ID |
235129 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup58
|
| Ensembl Gene |
ENSMUSG00000063895 |
| Gene Name |
nucleoporin 58 |
| Synonyms |
Nupl1, 1700017F11Rik |
| MMRRC Submission |
040163-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.945)
|
| Stock # |
R2160 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
60442733-60488951 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60476957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 238
(V238A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153642
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041905]
[ENSMUST00000225111]
[ENSMUST00000225311]
[ENSMUST00000225805]
|
| AlphaFold |
Q8R332 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041905
AA Change: V238A
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000038716
Gene: ENSMUSG00000114797
AA Change: V238A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nucleoporin_FG2
|
3 |
587 |
1.5e-299 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224575
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225111
AA Change: V238A
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225311
AA Change: V238A
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225572
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225805
AA Change: V238A
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the nucleoporin family that shares 87% sequence identity with rat nucleoporin p58. The protein is localized to the nuclear rim and is a component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bpifb9b |
A |
G |
2: 154,161,595 (GRCm39) |
N576D |
possibly damaging |
Het |
| Braf |
C |
T |
6: 39,639,007 (GRCm39) |
C248Y |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,423,680 (GRCm39) |
E1218G |
possibly damaging |
Het |
| Cntnap4 |
G |
T |
8: 113,484,203 (GRCm39) |
G419C |
probably damaging |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
C |
T |
11: 66,008,309 (GRCm39) |
D839N |
probably damaging |
Het |
| Evc2 |
A |
G |
5: 37,537,862 (GRCm39) |
T517A |
possibly damaging |
Het |
| Fbxw8 |
G |
A |
5: 118,263,053 (GRCm39) |
P209S |
probably damaging |
Het |
| Gcm1 |
A |
G |
9: 77,968,662 (GRCm39) |
K121E |
probably benign |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Herc2 |
A |
G |
7: 55,862,670 (GRCm39) |
D4077G |
probably benign |
Het |
| Inpp4b |
T |
A |
8: 82,848,004 (GRCm39) |
L937* |
probably null |
Het |
| Ipcef1 |
A |
T |
10: 6,840,650 (GRCm39) |
I349N |
probably damaging |
Het |
| Ipmk |
A |
G |
10: 71,217,256 (GRCm39) |
T267A |
probably benign |
Het |
| Jph3 |
G |
T |
8: 122,479,970 (GRCm39) |
R216L |
possibly damaging |
Het |
| Kctd16 |
A |
G |
18: 40,392,138 (GRCm39) |
E242G |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Krt76 |
A |
G |
15: 101,796,820 (GRCm39) |
Y360H |
probably damaging |
Het |
| Lctl |
A |
G |
9: 64,025,049 (GRCm39) |
I12V |
probably benign |
Het |
| Lrig3 |
T |
C |
10: 125,833,565 (GRCm39) |
V347A |
possibly damaging |
Het |
| Lrrk2 |
C |
T |
15: 91,680,263 (GRCm39) |
S2058F |
probably damaging |
Het |
| Mark2 |
G |
C |
19: 7,260,112 (GRCm39) |
S111C |
probably damaging |
Het |
| Mon2 |
T |
A |
10: 122,911,834 (GRCm39) |
K12* |
probably null |
Het |
| Pak5 |
T |
C |
2: 135,940,302 (GRCm39) |
D504G |
probably benign |
Het |
| Pla2g4e |
T |
C |
2: 120,015,687 (GRCm39) |
S286G |
probably benign |
Het |
| Ppfia4 |
A |
T |
1: 134,241,461 (GRCm39) |
V498D |
probably benign |
Het |
| Ppfibp1 |
A |
G |
6: 146,928,951 (GRCm39) |
E846G |
probably damaging |
Het |
| Ppp3ca |
G |
A |
3: 136,583,391 (GRCm39) |
C166Y |
probably damaging |
Het |
| Prpf3 |
T |
C |
3: 95,752,542 (GRCm39) |
K244E |
probably benign |
Het |
| Pzp |
A |
G |
6: 128,502,239 (GRCm39) |
S37P |
probably damaging |
Het |
| Rab11fip3 |
G |
A |
17: 26,288,028 (GRCm39) |
H42Y |
probably benign |
Het |
| Sprn |
C |
A |
7: 139,733,419 (GRCm39) |
|
probably benign |
Het |
| Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
| Thap12 |
A |
G |
7: 98,359,333 (GRCm39) |
S71G |
probably damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,001,879 (GRCm39) |
F127S |
probably damaging |
Het |
| Vmn2r54 |
C |
T |
7: 12,349,420 (GRCm39) |
V721I |
probably benign |
Het |
| Vmn2r56 |
A |
G |
7: 12,428,146 (GRCm39) |
F707L |
probably benign |
Het |
| Zfp976 |
C |
T |
7: 42,263,354 (GRCm39) |
S161N |
probably benign |
Het |
|
| Other mutations in Nup58 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Nup58
|
APN |
14 |
60,480,026 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00693:Nup58
|
APN |
14 |
60,475,969 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL00725:Nup58
|
APN |
14 |
60,480,889 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL00969:Nup58
|
APN |
14 |
60,466,365 (GRCm39) |
splice site |
probably benign |
|
|
IGL03243:Nup58
|
APN |
14 |
60,459,065 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03351:Nup58
|
APN |
14 |
60,466,224 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0056:Nup58
|
UTSW |
14 |
60,476,924 (GRCm39) |
splice site |
probably null |
|
|
R0113:Nup58
|
UTSW |
14 |
60,488,740 (GRCm39) |
start gained |
probably benign |
|
|
R0201:Nup58
|
UTSW |
14 |
60,482,065 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0830:Nup58
|
UTSW |
14 |
60,480,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0925:Nup58
|
UTSW |
14 |
60,457,590 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1004:Nup58
|
UTSW |
14 |
60,484,930 (GRCm39) |
splice site |
probably benign |
|
|
R1178:Nup58
|
UTSW |
14 |
60,482,119 (GRCm39) |
splice site |
probably benign |
|
|
R1181:Nup58
|
UTSW |
14 |
60,482,119 (GRCm39) |
splice site |
probably benign |
|
|
R1268:Nup58
|
UTSW |
14 |
60,482,119 (GRCm39) |
splice site |
probably benign |
|
|
R1388:Nup58
|
UTSW |
14 |
60,482,119 (GRCm39) |
splice site |
probably benign |
|
|
R1411:Nup58
|
UTSW |
14 |
60,482,119 (GRCm39) |
splice site |
probably benign |
|
|
R1442:Nup58
|
UTSW |
14 |
60,469,992 (GRCm39) |
splice site |
probably benign |
|
|
R1626:Nup58
|
UTSW |
14 |
60,480,076 (GRCm39) |
nonsense |
probably null |
|
|
R1697:Nup58
|
UTSW |
14 |
60,482,119 (GRCm39) |
splice site |
probably benign |
|
|
R1756:Nup58
|
UTSW |
14 |
60,482,119 (GRCm39) |
splice site |
probably benign |
|
|
R1853:Nup58
|
UTSW |
14 |
60,481,996 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1915:Nup58
|
UTSW |
14 |
60,475,980 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2211:Nup58
|
UTSW |
14 |
60,470,089 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2213:Nup58
|
UTSW |
14 |
60,476,945 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2518:Nup58
|
UTSW |
14 |
60,470,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2519:Nup58
|
UTSW |
14 |
60,460,808 (GRCm39) |
missense |
probably benign |
0.23 |
|
R3914:Nup58
|
UTSW |
14 |
60,469,596 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4302:Nup58
|
UTSW |
14 |
60,484,875 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4626:Nup58
|
UTSW |
14 |
60,476,004 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4705:Nup58
|
UTSW |
14 |
60,488,664 (GRCm39) |
missense |
unknown |
|
|
R4772:Nup58
|
UTSW |
14 |
60,457,471 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6151:Nup58
|
UTSW |
14 |
60,482,065 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6187:Nup58
|
UTSW |
14 |
60,478,256 (GRCm39) |
splice site |
probably null |
|
|
R6546:Nup58
|
UTSW |
14 |
60,460,672 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTCATGGTGTAAAATTTGAAAAC -3'
(R):5'- ACTTCTTTGGTAAGAAATATTGGTGT -3'
Sequencing Primer
(F):5'- GAACTCTATTTGTACACCAGGCTGG -3'
(R):5'- AGTAGAGAGCATAGCTATATTC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation