Incidental Mutation 'IGL02431:Wipi1'
| ID |
293138 |
| 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 # |
IGL02431
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
109464347-109502215 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 109494617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 72
(V72D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102300
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047186]
[ENSMUST00000103060]
[ENSMUST00000106689]
|
| AlphaFold |
Q8R3E3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047186
AA Change: V72D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038635
Gene: ENSMUSG00000041895
AA Change: V72D
| 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 damaging
Transcript: ENSMUST00000103060
AA Change: V72D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099349
Gene: ENSMUSG00000041895
AA Change: V72D
| 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 damaging
Transcript: ENSMUST00000106689
AA Change: V72D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102300
Gene: ENSMUSG00000041895
AA Change: V72D
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
A |
17: 24,517,958 (GRCm39) |
I784L |
probably benign |
Het |
| Abcc1 |
T |
A |
16: 14,237,598 (GRCm39) |
V473E |
probably damaging |
Het |
| Agap3 |
A |
G |
5: 24,706,010 (GRCm39) |
E758G |
probably damaging |
Het |
| C6 |
A |
T |
15: 4,789,343 (GRCm39) |
K263* |
probably null |
Het |
| Cep78 |
T |
C |
19: 15,936,943 (GRCm39) |
T588A |
probably benign |
Het |
| Cfap20dc |
T |
C |
14: 8,659,424 (GRCm38) |
N57S |
probably damaging |
Het |
| Col4a3 |
C |
T |
1: 82,657,344 (GRCm39) |
Q815* |
probably null |
Het |
| Dcaf10 |
A |
G |
4: 45,342,630 (GRCm39) |
M155V |
probably benign |
Het |
| Fam228b |
T |
C |
12: 4,812,370 (GRCm39) |
Y136C |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,255,651 (GRCm39) |
H793Q |
probably benign |
Het |
| Gm10134 |
T |
C |
2: 28,396,429 (GRCm39) |
|
probably benign |
Het |
| Gm6505 |
T |
C |
3: 28,819,169 (GRCm39) |
|
noncoding transcript |
Het |
| Il31ra |
A |
G |
13: 112,666,830 (GRCm39) |
F416S |
probably damaging |
Het |
| Lipc |
A |
G |
9: 70,841,750 (GRCm39) |
|
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,306,982 (GRCm39) |
K368E |
possibly damaging |
Het |
| Lrriq1 |
A |
T |
10: 103,036,500 (GRCm39) |
N884K |
probably damaging |
Het |
| Mrgprx1 |
T |
C |
7: 47,670,875 (GRCm39) |
R291G |
probably benign |
Het |
| Myo15a |
T |
A |
11: 60,401,465 (GRCm39) |
V3057E |
possibly damaging |
Het |
| Or11g1 |
T |
A |
14: 50,651,226 (GRCm39) |
I75N |
probably damaging |
Het |
| Or14j8 |
T |
A |
17: 38,263,413 (GRCm39) |
R167S |
probably benign |
Het |
| Postn |
A |
T |
3: 54,282,517 (GRCm39) |
I493F |
probably damaging |
Het |
| Ptpn22 |
C |
A |
3: 103,810,713 (GRCm39) |
F713L |
probably benign |
Het |
| Pygm |
T |
C |
19: 6,438,148 (GRCm39) |
V239A |
probably damaging |
Het |
| Rangrf |
C |
A |
11: 68,863,565 (GRCm39) |
C147F |
probably benign |
Het |
| Rnf112 |
C |
T |
11: 61,341,205 (GRCm39) |
R460H |
probably benign |
Het |
| Sh3d19 |
A |
G |
3: 86,014,305 (GRCm39) |
E423G |
probably damaging |
Het |
| Tasor2 |
A |
G |
13: 3,624,736 (GRCm39) |
V1738A |
possibly damaging |
Het |
| Tipin |
A |
G |
9: 64,208,467 (GRCm39) |
K204E |
probably benign |
Het |
| Traf3ip1 |
A |
T |
1: 91,427,357 (GRCm39) |
Q109L |
unknown |
Het |
| Ttc21b |
A |
T |
2: 66,082,229 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
A |
2: 76,804,460 (GRCm39) |
A271S |
probably benign |
Het |
| Vegfb |
C |
A |
19: 6,963,386 (GRCm39) |
|
probably null |
Het |
| Vmn1r15 |
T |
A |
6: 57,235,888 (GRCm39) |
L252H |
possibly damaging |
Het |
| Zmym1 |
G |
A |
4: 126,941,557 (GRCm39) |
Q944* |
probably null |
Het |
|
| Other mutations in Wipi1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00820:Wipi1
|
APN |
11 |
109,473,945 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation