Incidental Mutation 'IGL00820:Wipi1'
| ID |
14867 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wipi1
|
| Ensembl Gene |
ENSMUSG00000041895 |
| Gene Name |
WD repeat domain, phosphoinositide interacting 1 |
| Synonyms |
D11Ertd498e, 4930533H01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.132)
|
| Stock # |
IGL00820
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
109464347-109502215 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to C
at 109473945 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102300
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047186]
[ENSMUST00000103060]
[ENSMUST00000106689]
|
| AlphaFold |
Q8R3E3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047186
|
| SMART Domains |
Protein: ENSMUSP00000038635
Gene: ENSMUSG00000041895
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
68 |
76 |
N/A |
INTRINSIC |
|
Blast:WD40
|
90 |
125 |
7e-12 |
BLAST |
|
WD40
|
175 |
215 |
3.45e-3 |
SMART |
|
WD40
|
218 |
260 |
4.13e0 |
SMART |
|
WD40
|
306 |
342 |
4.93e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103060
|
| SMART Domains |
Protein: ENSMUSP00000099349
Gene: ENSMUSG00000041895
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
68 |
76 |
N/A |
INTRINSIC |
|
Blast:WD40
|
90 |
125 |
6e-12 |
BLAST |
|
WD40
|
175 |
215 |
3.45e-3 |
SMART |
|
WD40
|
218 |
260 |
4.13e0 |
SMART |
|
WD40
|
306 |
342 |
4.93e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106689
|
| SMART Domains |
Protein: ENSMUSP00000102300
Gene: ENSMUSG00000041895
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
68 |
76 |
N/A |
INTRINSIC |
|
Blast:WD40
|
90 |
125 |
2e-11 |
BLAST |
|
Blast:WD40
|
128 |
172 |
1e-6 |
BLAST |
|
WD40
|
175 |
215 |
3.45e-3 |
SMART |
|
WD40
|
218 |
260 |
4.13e0 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WD40 repeat protein. Members of the WD40 repeat family are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
T |
A |
5: 105,083,878 (GRCm39) |
I631F |
probably benign |
Het |
| Baiap3 |
T |
C |
17: 25,467,664 (GRCm39) |
D314G |
probably benign |
Het |
| Ccl1 |
T |
C |
11: 82,068,914 (GRCm39) |
E41G |
possibly damaging |
Het |
| Ephx1 |
T |
C |
1: 180,827,386 (GRCm39) |
Y89C |
possibly damaging |
Het |
| Fbxw18 |
G |
A |
9: 109,522,437 (GRCm39) |
T144I |
probably damaging |
Het |
| Galt |
C |
T |
4: 41,758,570 (GRCm39) |
A357V |
probably benign |
Het |
| Gfra1 |
T |
C |
19: 58,252,337 (GRCm39) |
|
probably benign |
Het |
| Hivep1 |
A |
T |
13: 42,337,294 (GRCm39) |
I2458L |
probably benign |
Het |
| Itga8 |
A |
G |
2: 12,237,703 (GRCm39) |
V339A |
possibly damaging |
Het |
| Klk1b8 |
T |
C |
7: 43,604,210 (GRCm39) |
I226T |
probably benign |
Het |
| Mfsd6 |
C |
T |
1: 52,747,465 (GRCm39) |
V467M |
probably damaging |
Het |
| Mrpl16 |
T |
C |
19: 11,751,777 (GRCm39) |
V179A |
probably benign |
Het |
| Or52e19b |
G |
A |
7: 103,032,672 (GRCm39) |
T179I |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,582,358 (GRCm39) |
T693A |
possibly damaging |
Het |
| Ptpn2 |
A |
C |
18: 67,808,862 (GRCm39) |
I318R |
possibly damaging |
Het |
| Slc34a1 |
A |
G |
13: 24,003,317 (GRCm39) |
H285R |
probably benign |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Spmip6 |
A |
T |
4: 41,507,178 (GRCm39) |
L206Q |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,679,251 (GRCm39) |
L68P |
probably damaging |
Het |
| Stxbp6 |
G |
A |
12: 44,908,129 (GRCm39) |
T163I |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 34,069,034 (GRCm39) |
|
probably benign |
Het |
| Tti1 |
T |
C |
2: 157,850,888 (GRCm39) |
E117G |
probably damaging |
Het |
| Ube4b |
T |
C |
4: 149,437,378 (GRCm39) |
|
probably benign |
Het |
| Zan |
A |
T |
5: 137,384,626 (GRCm39) |
C5133S |
unknown |
Het |
|
| Other mutations in Wipi1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02431:Wipi1
|
APN |
11 |
109,494,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0082:Wipi1
|
UTSW |
11 |
109,469,110 (GRCm39) |
unclassified |
probably benign |
|
|
R0400:Wipi1
|
UTSW |
11 |
109,467,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1420:Wipi1
|
UTSW |
11 |
109,469,198 (GRCm39) |
missense |
probably benign |
0.34 |
|
R2029:Wipi1
|
UTSW |
11 |
109,474,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2077:Wipi1
|
UTSW |
11 |
109,468,490 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4324:Wipi1
|
UTSW |
11 |
109,494,662 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4928:Wipi1
|
UTSW |
11 |
109,470,475 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6964:Wipi1
|
UTSW |
11 |
109,494,590 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7283:Wipi1
|
UTSW |
11 |
109,502,137 (GRCm39) |
start codon destroyed |
probably null |
0.23 |
|
R7720:Wipi1
|
UTSW |
11 |
109,473,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7739:Wipi1
|
UTSW |
11 |
109,470,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8755:Wipi1
|
UTSW |
11 |
109,494,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9256:Wipi1
|
UTSW |
11 |
109,473,952 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Wipi1
|
UTSW |
11 |
109,494,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Wipi1
|
UTSW |
11 |
109,488,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation