Incidental Mutation 'IGL03121:Wipi2'
| ID |
409970 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wipi2
|
| Ensembl Gene |
ENSMUSG00000029578 |
| Gene Name |
WD repeat domain, phosphoinositide interacting 2 |
| Synonyms |
2510001I10Rik, 1110018O08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.893)
|
| Stock # |
IGL03121
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
142615269-142655427 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 142648857 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 252
(E252K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036872]
[ENSMUST00000110778]
|
| AlphaFold |
Q80W47 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036872
AA Change: E252K
PolyPhen 2
Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000045201
Gene: ENSMUSG00000029578
AA Change: E252K
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
88 |
123 |
5e-14 |
BLAST |
|
WD40
|
173 |
213 |
1.92e-1 |
SMART |
|
WD40
|
216 |
258 |
1.99e0 |
SMART |
|
WD40
|
298 |
340 |
4.75e1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110778
AA Change: E252K
PolyPhen 2
Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000106405
Gene: ENSMUSG00000029578
AA Change: E252K
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
88 |
123 |
6e-14 |
BLAST |
|
WD40
|
173 |
213 |
1.92e-1 |
SMART |
|
WD40
|
216 |
258 |
1.99e0 |
SMART |
|
WD40
|
298 |
340 |
4.75e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143980
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153936
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] WD40 repeat proteins 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, such as WIPI2, have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids (Proikas-Cezanne et al., 2004 [PubMed 15602573]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B09Rik |
A |
G |
9: 14,672,946 (GRCm39) |
S4P |
possibly damaging |
Het |
| A2m |
A |
G |
6: 121,618,265 (GRCm39) |
N186S |
probably benign |
Het |
| Afg2a |
T |
C |
3: 37,518,800 (GRCm39) |
I778T |
probably damaging |
Het |
| Ago1 |
T |
C |
4: 126,353,796 (GRCm39) |
K261R |
probably benign |
Het |
| Alas1 |
G |
A |
9: 106,124,113 (GRCm39) |
P15L |
probably damaging |
Het |
| Aox1 |
G |
A |
1: 58,398,113 (GRCm39) |
V1285M |
probably damaging |
Het |
| Brd8 |
A |
T |
18: 34,739,740 (GRCm39) |
F678I |
probably damaging |
Het |
| Col27a1 |
T |
A |
4: 63,143,446 (GRCm39) |
M378K |
probably benign |
Het |
| Dpy19l4 |
C |
A |
4: 11,303,334 (GRCm39) |
V196F |
probably damaging |
Het |
| Dst |
G |
T |
1: 34,256,884 (GRCm39) |
|
probably benign |
Het |
| Hsd17b1 |
T |
A |
11: 100,970,870 (GRCm39) |
Y275* |
probably null |
Het |
| Kdm3b |
A |
G |
18: 34,928,762 (GRCm39) |
E171G |
probably damaging |
Het |
| Klc1 |
T |
C |
12: 111,748,076 (GRCm39) |
|
probably benign |
Het |
| Mlkl |
G |
A |
8: 112,041,612 (GRCm39) |
R443W |
probably damaging |
Het |
| Mov10 |
A |
T |
3: 104,708,318 (GRCm39) |
V477E |
probably benign |
Het |
| Nacad |
A |
G |
11: 6,550,933 (GRCm39) |
S753P |
probably damaging |
Het |
| Ncapd2 |
A |
C |
6: 125,150,575 (GRCm39) |
M842R |
probably benign |
Het |
| Nkd2 |
C |
A |
13: 73,969,498 (GRCm39) |
A311S |
probably benign |
Het |
| Nrg1 |
A |
G |
8: 32,314,608 (GRCm39) |
|
probably benign |
Het |
| Or4f6 |
A |
G |
2: 111,838,953 (GRCm39) |
Y193H |
probably benign |
Het |
| Or6c68 |
A |
G |
10: 129,158,037 (GRCm39) |
I182V |
probably benign |
Het |
| Pde6h |
A |
G |
6: 136,936,280 (GRCm39) |
S8G |
probably null |
Het |
| Pik3c2b |
A |
G |
1: 133,007,483 (GRCm39) |
K616E |
probably benign |
Het |
| Pnpt1 |
A |
T |
11: 29,082,845 (GRCm39) |
R54S |
probably benign |
Het |
| Pramel38 |
T |
C |
5: 94,368,912 (GRCm39) |
V469A |
possibly damaging |
Het |
| Rttn |
A |
G |
18: 88,993,875 (GRCm39) |
D184G |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,574,284 (GRCm39) |
I756F |
unknown |
Het |
| Slc24a2 |
T |
C |
4: 87,145,143 (GRCm39) |
T304A |
probably benign |
Het |
| Stk3 |
A |
T |
15: 35,099,572 (GRCm39) |
|
probably benign |
Het |
| Trim69 |
A |
G |
2: 121,998,128 (GRCm39) |
I33M |
probably benign |
Het |
| Ube2q2 |
A |
T |
9: 55,102,323 (GRCm39) |
|
probably benign |
Het |
| Vmn1r67 |
T |
A |
7: 10,181,394 (GRCm39) |
N158K |
probably benign |
Het |
|
| Other mutations in Wipi2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00679:Wipi2
|
APN |
5 |
142,644,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00737:Wipi2
|
APN |
5 |
142,652,625 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01388:Wipi2
|
APN |
5 |
142,646,798 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02523:Wipi2
|
APN |
5 |
142,646,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02725:Wipi2
|
APN |
5 |
142,652,618 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
PIT4445001:Wipi2
|
UTSW |
5 |
142,652,639 (GRCm39) |
missense |
probably benign |
|
|
R0677:Wipi2
|
UTSW |
5 |
142,643,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1818:Wipi2
|
UTSW |
5 |
142,643,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4670:Wipi2
|
UTSW |
5 |
142,645,345 (GRCm39) |
missense |
probably benign |
|
|
R6414:Wipi2
|
UTSW |
5 |
142,641,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6820:Wipi2
|
UTSW |
5 |
142,615,555 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7575:Wipi2
|
UTSW |
5 |
142,643,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation