Incidental Mutation 'IGL00737:Wipi2'
| ID |
14869 |
| 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: 0.859)
|
| Stock # |
IGL00737
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
142615269-142655427 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 142652625 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 412
(D412E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036872]
[ENSMUST00000110778]
|
| AlphaFold |
Q80W47 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036872
AA Change: D412E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000045201
Gene: ENSMUSG00000029578
AA Change: D412E
| 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: D392E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106405
Gene: ENSMUSG00000029578
AA Change: D392E
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,087,823 (GRCm39) |
|
probably benign |
Het |
| AI597479 |
T |
G |
1: 43,140,018 (GRCm39) |
H81Q |
probably benign |
Het |
| Alcam |
A |
T |
16: 52,073,543 (GRCm39) |
L561Q |
unknown |
Het |
| Cd8a |
T |
C |
6: 71,350,691 (GRCm39) |
V52A |
probably benign |
Het |
| Cgas |
G |
A |
9: 78,342,770 (GRCm39) |
P344L |
probably damaging |
Het |
| Cpsf2 |
T |
C |
12: 101,949,725 (GRCm39) |
V119A |
probably damaging |
Het |
| Cry1 |
T |
C |
10: 84,978,904 (GRCm39) |
N541D |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,160,340 (GRCm39) |
T1748A |
probably benign |
Het |
| Kifap3 |
A |
T |
1: 163,624,839 (GRCm39) |
I132F |
probably damaging |
Het |
| Lcor |
A |
G |
19: 41,541,139 (GRCm39) |
T68A |
probably damaging |
Het |
| Lpcat2 |
A |
G |
8: 93,635,834 (GRCm39) |
D372G |
probably damaging |
Het |
| Mrpl30 |
G |
A |
1: 37,934,457 (GRCm39) |
R33H |
probably benign |
Het |
| Ncstn |
A |
G |
1: 171,901,968 (GRCm39) |
Y151H |
probably benign |
Het |
| Parp4 |
A |
G |
14: 56,821,620 (GRCm39) |
T2A |
probably damaging |
Het |
| Plxna2 |
G |
A |
1: 194,428,547 (GRCm39) |
|
probably benign |
Het |
| Pum2 |
A |
G |
12: 8,783,381 (GRCm39) |
Y610C |
probably damaging |
Het |
| Rabl6 |
T |
C |
2: 25,474,132 (GRCm39) |
|
probably benign |
Het |
| Wdr33 |
T |
A |
18: 32,011,169 (GRCm39) |
W273R |
probably damaging |
Het |
| Wdr59 |
T |
C |
8: 112,185,368 (GRCm39) |
N855S |
probably damaging |
Het |
| Zfp28 |
T |
C |
7: 6,396,429 (GRCm39) |
*56Q |
probably null |
Het |
| Zfyve16 |
T |
A |
13: 92,657,626 (GRCm39) |
K762* |
probably null |
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 |
|
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 |
|
IGL03121:Wipi2
|
APN |
5 |
142,648,857 (GRCm39) |
missense |
probably benign |
0.39 |
|
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 |
2012-12-06 |
Incidental Mutation