Incidental Mutation 'IGL02253:Nup54'
| ID |
286521 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nup54
|
| Ensembl Gene |
ENSMUSG00000034826 |
| Gene Name |
nucleoporin 54 |
| Synonyms |
3110079L04Rik, 54kDa |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
IGL02253
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
92563399-92583078 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 92565310 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046540
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038514]
[ENSMUST00000113083]
[ENSMUST00000117108]
[ENSMUST00000118106]
[ENSMUST00000119587]
[ENSMUST00000120193]
[ENSMUST00000120416]
[ENSMUST00000121096]
[ENSMUST00000152041]
|
| AlphaFold |
Q8BTS4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000038514
|
| SMART Domains |
Protein: ENSMUSP00000046540
Gene: ENSMUSG00000034826
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
109 |
N/A |
INTRINSIC |
|
Pfam:Nup54
|
303 |
441 |
4.8e-49 |
PFAM |
|
PDB:3T98|C
|
445 |
494 |
2e-26 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113083
|
| SMART Domains |
Protein: ENSMUSP00000108706
Gene: ENSMUSG00000034842
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:ART
|
29 |
251 |
4.4e-65 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117108
|
| SMART Domains |
Protein: ENSMUSP00000113041
Gene: ENSMUSG00000034842
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:ART
|
29 |
251 |
1.9e-65 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118106
|
| SMART Domains |
Protein: ENSMUSP00000114083
Gene: ENSMUSG00000034842
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:ART
|
29 |
251 |
9e-66 |
PFAM |
|
low complexity region
|
298 |
309 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119587
|
| SMART Domains |
Protein: ENSMUSP00000112648
Gene: ENSMUSG00000034842
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:ART
|
29 |
251 |
4e-65 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120193
|
| SMART Domains |
Protein: ENSMUSP00000113074
Gene: ENSMUSG00000034842
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:ART
|
29 |
251 |
8.4e-66 |
PFAM |
|
low complexity region
|
298 |
309 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120416
|
| SMART Domains |
Protein: ENSMUSP00000113493
Gene: ENSMUSG00000034842
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:ART
|
29 |
251 |
3.1e-65 |
PFAM |
|
low complexity region
|
298 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
373 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123694
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129222
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126281
|
| SMART Domains |
Protein: ENSMUSP00000116110
Gene: ENSMUSG00000034842
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ART
|
1 |
190 |
3e-53 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121096
|
| SMART Domains |
Protein: ENSMUSP00000113510
Gene: ENSMUSG00000034842
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:ART
|
29 |
251 |
1.8e-65 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152041
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138003
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. This gene encodes a member of the phe-gly (FG) repeat-containing nucleoporin subset. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,807,182 (GRCm39) |
E76G |
probably benign |
Het |
| Adamtsl2 |
A |
T |
2: 26,988,709 (GRCm39) |
T587S |
possibly damaging |
Het |
| Adgre4 |
T |
A |
17: 56,067,573 (GRCm39) |
M9K |
probably benign |
Het |
| Aff2 |
T |
A |
X: 68,874,397 (GRCm39) |
V447E |
probably benign |
Het |
| Arhgef10l |
G |
T |
4: 140,271,595 (GRCm39) |
S425* |
probably null |
Het |
| Cabcoco1 |
T |
C |
10: 68,272,107 (GRCm39) |
|
probably null |
Het |
| Calcr |
T |
A |
6: 3,707,523 (GRCm39) |
H259L |
probably benign |
Het |
| Cdc42bpa |
T |
A |
1: 179,859,161 (GRCm39) |
|
probably benign |
Het |
| Cntnap5b |
C |
T |
1: 100,091,936 (GRCm39) |
H540Y |
possibly damaging |
Het |
| Cyp2a22 |
A |
T |
7: 26,637,662 (GRCm39) |
|
probably benign |
Het |
| Ddx3x |
T |
C |
X: 13,151,207 (GRCm39) |
|
probably benign |
Het |
| Dnajc11 |
T |
A |
4: 152,034,976 (GRCm39) |
Y28* |
probably null |
Het |
| Dock11 |
T |
C |
X: 35,304,781 (GRCm39) |
F1472S |
probably damaging |
Het |
| Dusp18 |
T |
C |
11: 3,847,576 (GRCm39) |
*189Q |
probably null |
Het |
| Dzip3 |
A |
T |
16: 48,765,287 (GRCm39) |
Y476N |
probably benign |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Evc2 |
T |
A |
5: 37,535,771 (GRCm39) |
|
probably benign |
Het |
| Fam151b |
A |
T |
13: 92,614,435 (GRCm39) |
Y18N |
probably damaging |
Het |
| Gk5 |
T |
C |
9: 96,019,824 (GRCm39) |
F120S |
probably damaging |
Het |
| Itprid2 |
A |
G |
2: 79,490,788 (GRCm39) |
T969A |
probably damaging |
Het |
| Kcna3 |
T |
C |
3: 106,944,727 (GRCm39) |
L330P |
probably damaging |
Het |
| Kctd20 |
A |
G |
17: 29,180,460 (GRCm39) |
N7S |
probably benign |
Het |
| Kmt2b |
G |
T |
7: 30,281,152 (GRCm39) |
R1276S |
probably damaging |
Het |
| Kmt2d |
C |
T |
15: 98,756,056 (GRCm39) |
|
probably benign |
Het |
| L2hgdh |
G |
A |
12: 69,752,534 (GRCm39) |
|
probably benign |
Het |
| Lifr |
T |
G |
15: 7,220,085 (GRCm39) |
V905G |
probably damaging |
Het |
| Mcm3ap |
T |
A |
10: 76,305,899 (GRCm39) |
V4E |
probably benign |
Het |
| Nrip3 |
A |
C |
7: 109,360,951 (GRCm39) |
|
probably null |
Het |
| Nsun2 |
T |
G |
13: 69,767,658 (GRCm39) |
V204G |
possibly damaging |
Het |
| Or5p69 |
T |
A |
7: 107,967,261 (GRCm39) |
V188E |
possibly damaging |
Het |
| Or8c16 |
T |
A |
9: 38,131,031 (GRCm39) |
M304K |
probably benign |
Het |
| Pdcl3 |
A |
G |
1: 39,034,011 (GRCm39) |
D51G |
probably benign |
Het |
| Pdlim1 |
T |
C |
19: 40,218,974 (GRCm39) |
E219G |
probably damaging |
Het |
| Pld4 |
A |
C |
12: 112,733,141 (GRCm39) |
K239T |
probably damaging |
Het |
| Rgsl1 |
T |
C |
1: 153,669,513 (GRCm39) |
Y291C |
probably damaging |
Het |
| Rnf213 |
C |
A |
11: 119,331,476 (GRCm39) |
H2228Q |
probably benign |
Het |
| Rnf222 |
T |
A |
11: 68,783,862 (GRCm39) |
I143N |
probably damaging |
Het |
| Sirt7 |
A |
G |
11: 120,511,693 (GRCm39) |
I13T |
probably benign |
Het |
| Slfn10-ps |
A |
G |
11: 82,919,890 (GRCm39) |
|
noncoding transcript |
Het |
| Slx4ip |
T |
C |
2: 136,842,195 (GRCm39) |
|
probably null |
Het |
| Spata18 |
G |
T |
5: 73,825,939 (GRCm39) |
S164I |
possibly damaging |
Het |
| Spmip2 |
C |
A |
3: 79,356,741 (GRCm39) |
|
probably benign |
Het |
| Spmip2 |
C |
A |
3: 79,356,742 (GRCm39) |
|
probably benign |
Het |
| Stk26 |
T |
C |
X: 49,975,565 (GRCm39) |
L212P |
probably damaging |
Het |
| Tmsb15a |
T |
C |
X: 134,620,451 (GRCm39) |
I56V |
probably benign |
Het |
| Tnrc6b |
T |
A |
15: 80,760,742 (GRCm39) |
S150T |
probably damaging |
Het |
| Tubb3 |
T |
C |
8: 124,147,559 (GRCm39) |
M164T |
probably benign |
Het |
| Zfp516 |
A |
G |
18: 83,012,622 (GRCm39) |
D1125G |
probably benign |
Het |
| Zyg11a |
A |
C |
4: 108,040,892 (GRCm39) |
V685G |
probably null |
Het |
|
| Other mutations in Nup54 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00491:Nup54
|
APN |
5 |
92,565,344 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01526:Nup54
|
APN |
5 |
92,565,334 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01924:Nup54
|
APN |
5 |
92,572,294 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02248:Nup54
|
APN |
5 |
92,576,188 (GRCm39) |
splice site |
probably null |
|
|
IGL02508:Nup54
|
APN |
5 |
92,565,398 (GRCm39) |
nonsense |
probably null |
|
|
IGL02721:Nup54
|
APN |
5 |
92,565,716 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL03150:Nup54
|
APN |
5 |
92,576,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0189:Nup54
|
UTSW |
5 |
92,570,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1401:Nup54
|
UTSW |
5 |
92,576,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1862:Nup54
|
UTSW |
5 |
92,567,426 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R3938:Nup54
|
UTSW |
5 |
92,565,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4171:Nup54
|
UTSW |
5 |
92,565,343 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4574:Nup54
|
UTSW |
5 |
92,573,641 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5372:Nup54
|
UTSW |
5 |
92,565,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6003:Nup54
|
UTSW |
5 |
92,570,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6191:Nup54
|
UTSW |
5 |
92,572,153 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6197:Nup54
|
UTSW |
5 |
92,578,663 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R7861:Nup54
|
UTSW |
5 |
92,578,952 (GRCm39) |
missense |
unknown |
|
|
R8005:Nup54
|
UTSW |
5 |
92,576,006 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8016:Nup54
|
UTSW |
5 |
92,582,176 (GRCm39) |
missense |
unknown |
|
|
R8439:Nup54
|
UTSW |
5 |
92,573,605 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8709:Nup54
|
UTSW |
5 |
92,570,267 (GRCm39) |
intron |
probably benign |
|
|
R9711:Nup54
|
UTSW |
5 |
92,582,218 (GRCm39) |
missense |
unknown |
|
|
Z1177:Nup54
|
UTSW |
5 |
92,582,138 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation