Incidental Mutation 'R2960:Nup43'
| ID |
255883 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup43
|
| Ensembl Gene |
ENSMUSG00000040034 |
| Gene Name |
nucleoporin 43 |
| Synonyms |
2610529I12Rik, 2610016K01Rik, 43kDa, p42 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R2960 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
7543267-7554645 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7546713 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 111
(V111A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046732
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040135]
[ENSMUST00000159977]
[ENSMUST00000162682]
|
| AlphaFold |
P59235 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040135
AA Change: V111A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000046732
Gene: ENSMUSG00000040034
AA Change: V111A
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159977
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161060
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162346
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162527
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
|
| 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]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl5c |
A |
G |
11: 97,885,902 (GRCm39) |
L33P |
probably damaging |
Het |
| Auh |
A |
T |
13: 52,993,610 (GRCm39) |
I268N |
probably damaging |
Het |
| Cimap2 |
A |
G |
4: 106,470,615 (GRCm39) |
S186P |
probably damaging |
Het |
| Defa25 |
A |
T |
8: 21,575,273 (GRCm39) |
H84L |
probably benign |
Het |
| Endou |
T |
C |
15: 97,611,687 (GRCm39) |
Y317C |
probably damaging |
Het |
| Fmn2 |
C |
T |
1: 174,437,385 (GRCm39) |
L1119F |
probably damaging |
Het |
| Glyat |
T |
A |
19: 12,617,214 (GRCm39) |
L22H |
probably damaging |
Het |
| Gpd2 |
C |
T |
2: 57,228,987 (GRCm39) |
R264* |
probably null |
Het |
| Grb7 |
C |
T |
11: 98,343,087 (GRCm39) |
T268I |
probably damaging |
Het |
| Ints15 |
A |
T |
5: 143,293,776 (GRCm39) |
F234I |
probably benign |
Het |
| Itfg2 |
G |
A |
6: 128,390,515 (GRCm39) |
A190V |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Mdga2 |
G |
T |
12: 66,676,752 (GRCm39) |
Y513* |
probably null |
Het |
| Med8 |
A |
G |
4: 118,271,944 (GRCm39) |
T222A |
probably damaging |
Het |
| Or9s14 |
A |
G |
1: 92,536,050 (GRCm39) |
I164V |
probably benign |
Het |
| Rfx3 |
G |
A |
19: 27,878,211 (GRCm39) |
Q29* |
probably null |
Het |
| Rfx8 |
A |
G |
1: 39,722,112 (GRCm39) |
V291A |
probably damaging |
Het |
| Scnn1a |
A |
G |
6: 125,299,256 (GRCm39) |
Y112C |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tmx3 |
T |
C |
18: 90,551,116 (GRCm39) |
V252A |
probably damaging |
Het |
| Vmn1r216 |
A |
G |
13: 23,284,103 (GRCm39) |
D262G |
probably benign |
Het |
| Vmn1r9 |
A |
G |
6: 57,048,657 (GRCm39) |
D244G |
possibly damaging |
Het |
| Xkr6 |
T |
A |
14: 63,844,586 (GRCm39) |
M203K |
possibly damaging |
Het |
| Zfr |
G |
A |
15: 12,162,319 (GRCm39) |
R823H |
probably benign |
Het |
|
| Other mutations in Nup43 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01323:Nup43
|
APN |
10 |
7,545,320 (GRCm39) |
missense |
probably benign |
|
|
IGL02029:Nup43
|
APN |
10 |
7,543,347 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02375:Nup43
|
APN |
10 |
7,549,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0413:Nup43
|
UTSW |
10 |
7,546,791 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1061:Nup43
|
UTSW |
10 |
7,543,435 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1892:Nup43
|
UTSW |
10 |
7,549,373 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3551:Nup43
|
UTSW |
10 |
7,550,778 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4772:Nup43
|
UTSW |
10 |
7,554,433 (GRCm39) |
nonsense |
probably null |
|
|
R6179:Nup43
|
UTSW |
10 |
7,554,437 (GRCm39) |
missense |
probably benign |
0.40 |
|
R6346:Nup43
|
UTSW |
10 |
7,550,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8073:Nup43
|
UTSW |
10 |
7,546,713 (GRCm39) |
missense |
probably benign |
|
|
R8220:Nup43
|
UTSW |
10 |
7,552,097 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGGAGACTTGTTCTTTCTTCTAC -3'
(R):5'- TGCCAAGTGTCATTTTCACACC -3'
Sequencing Primer
(F):5'- TTGTTCTTTCTTCTACAAGGACATG -3'
(R):5'- AATAGGACTCCTCACCTATAGTTCTG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation