Incidental Mutation 'R8016:Nup54'
| ID |
617173 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup54
|
| Ensembl Gene |
ENSMUSG00000034826 |
| Gene Name |
nucleoporin 54 |
| Synonyms |
3110079L04Rik, 54kDa |
| MMRRC Submission |
067456-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R8016 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
92563399-92583078 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 92582176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 45
(T45I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038514]
[ENSMUST00000135112]
[ENSMUST00000146470]
|
| AlphaFold |
Q8BTS4 |
| Predicted Effect |
probably benign
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 |
|
| SMART Domains |
Protein: ENSMUSP00000120937
Gene: ENSMUSG00000034826
AA Change: T57I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
110 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
123 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000135112
AA Change: T45I
|
| SMART Domains |
Protein: ENSMUSP00000117237
Gene: ENSMUSG00000034826
AA Change: T45I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
26 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
34 |
53 |
3.34e-6 |
PROSPERO |
|
internal_repeat_1
|
49 |
68 |
3.34e-6 |
PROSPERO |
|
low complexity region
|
69 |
97 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
110 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146470
|
| SMART Domains |
Protein: ENSMUSP00000121171
Gene: ENSMUSG00000034826
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
97 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (41/42) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,583,926 (GRCm39) |
M105K |
probably benign |
Het |
| Acer2 |
T |
C |
4: 86,804,443 (GRCm39) |
F53L |
probably damaging |
Het |
| Adam15 |
A |
G |
3: 89,252,668 (GRCm39) |
V307A |
probably benign |
Het |
| Afmid |
A |
G |
11: 117,726,370 (GRCm39) |
I193V |
probably benign |
Het |
| Ahdc1 |
C |
T |
4: 132,790,226 (GRCm39) |
T489M |
possibly damaging |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| Bag6 |
T |
A |
17: 35,357,733 (GRCm39) |
V133D |
unknown |
Het |
| Btla |
T |
C |
16: 45,070,950 (GRCm39) |
V304A |
probably damaging |
Het |
| Cacna1g |
A |
T |
11: 94,334,007 (GRCm39) |
I878N |
probably benign |
Het |
| Ccnf |
A |
T |
17: 24,450,784 (GRCm39) |
I398N |
possibly damaging |
Het |
| Clcnka |
A |
T |
4: 141,117,463 (GRCm39) |
S445T |
possibly damaging |
Het |
| Col6a6 |
A |
G |
9: 105,644,727 (GRCm39) |
V1187A |
possibly damaging |
Het |
| Col7a1 |
T |
C |
9: 108,787,712 (GRCm39) |
V664A |
unknown |
Het |
| Crb2 |
C |
A |
2: 37,676,568 (GRCm39) |
A183E |
possibly damaging |
Het |
| Cyp2j5 |
C |
T |
4: 96,546,951 (GRCm39) |
V188I |
probably damaging |
Het |
| D430041D05Rik |
A |
T |
2: 104,022,864 (GRCm39) |
N1043K |
probably damaging |
Het |
| Dnah14 |
G |
A |
1: 181,475,876 (GRCm39) |
R1376H |
probably benign |
Het |
| Foxj1 |
A |
G |
11: 116,222,675 (GRCm39) |
F376S |
probably damaging |
Het |
| Hsd17b11 |
A |
T |
5: 104,169,526 (GRCm39) |
I27N |
probably damaging |
Het |
| Itih1 |
A |
G |
14: 30,657,251 (GRCm39) |
V528A |
probably damaging |
Het |
| Ndor1 |
A |
G |
2: 25,139,329 (GRCm39) |
V283A |
probably benign |
Het |
| Or4c100 |
G |
A |
2: 88,356,517 (GRCm39) |
V197I |
probably damaging |
Het |
| Or7g16 |
T |
C |
9: 18,727,588 (GRCm39) |
M1V |
probably null |
Het |
| Pbld2 |
T |
C |
10: 62,883,744 (GRCm39) |
F70L |
probably damaging |
Het |
| Pdzph1 |
A |
G |
17: 59,239,476 (GRCm39) |
S951P |
probably damaging |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Prss1l |
A |
T |
6: 41,374,100 (GRCm39) |
Y234F |
probably damaging |
Het |
| Rasgrp1 |
A |
T |
2: 117,118,314 (GRCm39) |
C558* |
probably null |
Het |
| Slc12a6 |
A |
T |
2: 112,186,899 (GRCm39) |
H966L |
probably benign |
Het |
| Snx14 |
A |
T |
9: 88,297,740 (GRCm39) |
V176D |
probably damaging |
Het |
| St6galnac3 |
G |
T |
3: 152,911,129 (GRCm39) |
H277Q |
probably damaging |
Het |
| Syde2 |
T |
A |
3: 145,707,727 (GRCm39) |
D822E |
possibly damaging |
Het |
| Syne2 |
A |
T |
12: 75,989,681 (GRCm39) |
E1853D |
probably benign |
Het |
| Tigd4 |
T |
C |
3: 84,501,971 (GRCm39) |
V296A |
possibly damaging |
Het |
| Tmed4 |
A |
T |
11: 6,224,242 (GRCm39) |
|
probably benign |
Het |
| Trmt6 |
A |
T |
2: 132,651,826 (GRCm39) |
I198N |
probably damaging |
Het |
| Ubap2 |
A |
G |
4: 41,195,201 (GRCm39) |
S1117P |
possibly damaging |
Het |
| Wasl |
A |
T |
6: 24,634,594 (GRCm39) |
Y103N |
probably damaging |
Het |
| Zfp628 |
A |
G |
7: 4,922,228 (GRCm39) |
D150G |
probably damaging |
Het |
| Zfp936 |
T |
A |
7: 42,838,848 (GRCm39) |
V105D |
possibly damaging |
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 |
|
|
IGL02253:Nup54
|
APN |
5 |
92,565,310 (GRCm39) |
critical splice donor 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCCTTTCTTTATTAGACAAGTGC -3'
(R):5'- CAGGTCAGGTTTGTTCACGC -3'
Sequencing Primer
(F):5'- ATTAGACAAGTGCCATTTCTTCC -3'
(R):5'- ACGCTGTGAAACCTCTTGCTG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation