Incidental Mutation 'IGL02029:Nup43'
| ID | 184315 |
|---|
| Institutional Source |
Australian Phenomics Network
(link to record)
|
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| Gene Symbol |
Nup43
|
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| Ensembl Gene |
ENSMUSG00000040034 |
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| Gene Name | nucleoporin 43 |
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| Synonyms | p42, 43kDa, 2610529I12Rik, 2610016K01Rik |
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| Accession Numbers | |
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| Is this an essential gene? |
Probably essential (E-score: 0.964)
|
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| Stock # | IGL02029
|
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| Quality Score | |
|---|
| Status |
|
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| Chromosome | 10 |
|---|
| Chromosomal Location | 7667503-7678881 bp(+) (GRCm38) |
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| Type of Mutation | missense |
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| DNA Base Change (assembly) |
T to C
at 7667583 bp
|
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| Zygosity | Heterozygous |
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| Amino Acid Change |
Phenylalanine to Leucine
at position 8
(F8L)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000046732
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040135]
[ENSMUST00000159917]
[ENSMUST00000159977]
[ENSMUST00000161123]
[ENSMUST00000162606]
[ENSMUST00000162682]
[ENSMUST00000163085]
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040135
AA Change: F8L
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
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| SMART Domains |
Protein: ENSMUSP00000046732
Gene: ENSMUSG00000040034
AA Change: F8L
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
1 |
48 |
1e-15 |
BLAST |
|
WD40
|
64 |
101 |
3.57e0 |
SMART |
|
WD40
|
124 |
157 |
2.45e2 |
SMART |
|
WD40
|
160 |
199 |
9.55e0 |
SMART |
|
WD40
|
206 |
246 |
2.15e-4 |
SMART |
|
WD40
|
250 |
290 |
2.19e-5 |
SMART |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000159917
|
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| SMART Domains |
Protein: ENSMUSP00000124932
Gene: ENSMUSG00000019795
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
25 |
N/A |
INTRINSIC |
|
Pfam:PCMT
|
66 |
279 |
1.1e-88 |
PFAM |
|
Pfam:Ubie_methyltran
|
126 |
258 |
3.4e-7 |
PFAM |
|
Pfam:Methyltransf_31
|
134 |
284 |
1.1e-8 |
PFAM |
|
Pfam:Methyltransf_18
|
136 |
241 |
3e-9 |
PFAM |
|
Pfam:Methyltransf_11
|
141 |
239 |
1.5e-6 |
PFAM |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159977
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160250
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160517
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161060
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000161123
|
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| SMART Domains |
Protein: ENSMUSP00000124100
Gene: ENSMUSG00000019795
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
Pfam:PCMT
|
53 |
108 |
4.2e-14 |
PFAM |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162346
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162527
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000162606
|
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| SMART Domains |
Protein: ENSMUSP00000123866
Gene: ENSMUSG00000019795
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
25 |
N/A |
INTRINSIC |
|
Pfam:PCMT
|
66 |
279 |
2e-88 |
PFAM |
|
Pfam:Ubie_methyltran
|
126 |
259 |
1e-6 |
PFAM |
|
Pfam:Methyltransf_31
|
134 |
283 |
3.5e-8 |
PFAM |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162682
|
|---|
| SMART Domains |
Protein: ENSMUSP00000124246
Gene: ENSMUSG00000019795
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PCMT
|
1 |
66 |
7.5e-26 |
PFAM |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163085
|
|---|
| SMART Domains |
Protein: ENSMUSP00000125144
Gene: ENSMUSG00000019795
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
15 |
37 |
N/A |
INTRINSIC |
|
Pfam:PCMT
|
52 |
265 |
9.1e-89 |
PFAM |
|
Pfam:Ubie_methyltran
|
112 |
244 |
3.1e-7 |
PFAM |
|
Pfam:Methyltransf_31
|
120 |
270 |
9.8e-9 |
PFAM |
|
Pfam:Methyltransf_18
|
122 |
227 |
2.7e-9 |
PFAM |
|
Pfam:Methyltransf_11
|
127 |
225 |
1.4e-6 |
PFAM |
|
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| Coding Region Coverage |
|
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| Validation Efficiency |
|
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| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Bidirectional transport of macromolecules between the cytoplasm and nucleus occurs through nuclear pore complexes (NPCs) embedded in the nuclear envelope. NPCs are composed of subcomplexes, and NUP43 is part of one such subcomplex, Nup107-160 (Loiodice et al., 2004 [PubMed 15146057]).[supplied by OMIM, Mar 2008]
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap2 |
T |
C |
10: 127,080,283 |
V221A |
unknown |
Het |
| Akr1c13 |
T |
A |
13: 4,205,362 |
Y317* |
probably null |
Het |
| Bicd2 |
T |
A |
13: 49,369,499 |
I30N |
probably damaging |
Het |
| Cadm2 |
G |
T |
16: 66,747,296 |
N291K |
probably damaging |
Het |
| Ccdc61 |
C |
T |
7: 18,903,498 |
C68Y |
probably damaging |
Het |
| Ccnl2 |
A |
G |
4: 155,821,862 |
S351G |
probably benign |
Het |
| Cdcp1 |
A |
G |
9: 123,183,834 |
|
probably benign |
Het |
| Clhc1 |
T |
C |
11: 29,560,798 |
S256P |
probably benign |
Het |
| Fam83h |
T |
C |
15: 76,006,438 |
E37G |
probably damaging |
Het |
| Fancd2 |
C |
T |
6: 113,570,975 |
L938F |
probably benign |
Het |
| Fbn2 |
G |
T |
18: 58,209,603 |
A68E |
probably benign |
Het |
| Fcrl1 |
T |
A |
3: 87,376,487 |
|
probably benign |
Het |
| Ganc |
A |
G |
2: 120,459,857 |
T892A |
probably benign |
Het |
| Gramd1a |
C |
T |
7: 31,132,824 |
R596H |
possibly damaging |
Het |
| Limk1 |
A |
T |
5: 134,657,954 |
Y518* |
probably null |
Het |
| Map1a |
A |
G |
2: 121,303,298 |
T1294A |
possibly damaging |
Het |
| March3 |
G |
A |
18: 56,807,681 |
P126S |
probably benign |
Het |
| Ntn5 |
A |
G |
7: 45,686,591 |
I149V |
probably benign |
Het |
| Olfr1105 |
A |
G |
2: 87,033,901 |
F107L |
probably benign |
Het |
| Olfr1484 |
A |
T |
19: 13,586,104 |
M267L |
probably benign |
Het |
| P2rx6 |
C |
T |
16: 17,568,095 |
S236F |
probably benign |
Het |
| Peg10 |
G |
T |
6: 4,754,473 |
|
probably benign |
Het |
| Runx2 |
T |
A |
17: 44,658,687 |
R238* |
probably null |
Het |
| Serpinb9d |
A |
T |
13: 33,196,529 |
I133L |
possibly damaging |
Het |
| Snph |
A |
G |
2: 151,593,607 |
V434A |
probably damaging |
Het |
| Trp53rkb |
C |
A |
2: 166,795,394 |
P90Q |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,749,804 |
E21836* |
probably null |
Het |
| Ube3c |
T |
A |
5: 29,619,328 |
F507I |
probably damaging |
Het |
| Ugt1a6a |
T |
C |
1: 88,138,681 |
S70P |
probably benign |
Het |
| Zcchc6 |
A |
G |
13: 59,784,888 |
|
probably benign |
Het |
| Zfp354b |
C |
T |
11: 50,923,837 |
C87Y |
probably benign |
Het |
| Zfp462 |
G |
T |
4: 55,079,395 |
|
probably benign |
Het |
|
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| Other mutations in Nup43 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01323:Nup43
|
APN |
10 |
7669556 |
missense |
probably benign |
|
|
IGL02375:Nup43
|
APN |
10 |
7673594 |
missense |
probably damaging |
1.00 |
|
R0413:Nup43
|
UTSW |
10 |
7671027 |
missense |
probably benign |
0.05 |
|
R1061:Nup43
|
UTSW |
10 |
7667671 |
missense |
probably damaging |
0.99 |
|
R1892:Nup43
|
UTSW |
10 |
7673609 |
missense |
probably damaging |
0.99 |
|
R2960:Nup43
|
UTSW |
10 |
7670949 |
missense |
probably benign |
|
|
R3551:Nup43
|
UTSW |
10 |
7675014 |
missense |
possibly damaging |
0.93 |
|
R4772:Nup43
|
UTSW |
10 |
7678669 |
nonsense |
probably null |
|
|
R6179:Nup43
|
UTSW |
10 |
7678673 |
missense |
probably benign |
0.40 |
|
R6346:Nup43
|
UTSW |
10 |
7675062 |
missense |
probably damaging |
1.00 |
|
R8073:Nup43
|
UTSW |
10 |
7670949 |
missense |
probably benign |
|
|
R8220:Nup43
|
UTSW |
10 |
7676333 |
missense |
probably benign |
|
|
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| Posted On | 2014-05-07 |
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