Incidental Mutation 'R0677:Wipi2'
| ID |
61673 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wipi2
|
| Ensembl Gene |
ENSMUSG00000029578 |
| Gene Name |
WD repeat domain, phosphoinositide interacting 2 |
| Synonyms |
2510001I10Rik, 1110018O08Rik |
| MMRRC Submission |
038862-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.893)
|
| Stock # |
R0677 (G1)
|
| Quality Score |
90 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
142615269-142655427 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 142643989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 124
(I124F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106405
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036872]
[ENSMUST00000110778]
|
| AlphaFold |
Q80W47 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036872
AA Change: I124F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045201
Gene: ENSMUSG00000029578
AA Change: I124F
| 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 damaging
Transcript: ENSMUST00000110778
AA Change: I124F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106405
Gene: ENSMUSG00000029578
AA Change: I124F
| 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 |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.6%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630073D07Rik |
G |
A |
6: 132,603,520 (GRCm39) |
Q79* |
probably null |
Het |
| Apol8 |
A |
C |
15: 77,634,051 (GRCm39) |
I175S |
probably damaging |
Het |
| BC004004 |
T |
C |
17: 29,517,638 (GRCm39) |
F284S |
probably damaging |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Dchs1 |
G |
A |
7: 105,414,191 (GRCm39) |
R875C |
probably damaging |
Het |
| Depdc5 |
A |
C |
5: 33,058,814 (GRCm39) |
N261T |
probably damaging |
Het |
| Flrt1 |
A |
T |
19: 7,073,544 (GRCm39) |
C334* |
probably null |
Het |
| Galnt5 |
T |
A |
2: 57,888,992 (GRCm39) |
Y197* |
probably null |
Het |
| Gp5 |
A |
G |
16: 30,127,193 (GRCm39) |
S494P |
probably benign |
Het |
| Ifnlr1 |
T |
A |
4: 135,432,945 (GRCm39) |
D460E |
possibly damaging |
Het |
| Mrgpra4 |
C |
T |
7: 47,630,728 (GRCm39) |
S291N |
probably benign |
Het |
| Msh4 |
G |
A |
3: 153,585,004 (GRCm39) |
P367S |
possibly damaging |
Het |
| Myct1 |
G |
T |
10: 5,554,261 (GRCm39) |
V43F |
probably benign |
Het |
| Ndst2 |
G |
A |
14: 20,779,647 (GRCm39) |
R198W |
probably benign |
Het |
| Ogdhl |
A |
T |
14: 32,061,882 (GRCm39) |
H500L |
probably damaging |
Het |
| Or52s1 |
C |
T |
7: 102,862,005 (GRCm39) |
R302* |
probably null |
Het |
| Or6c2b |
T |
A |
10: 128,947,947 (GRCm39) |
M116L |
probably damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,594,454 (GRCm39) |
G1220S |
probably benign |
Het |
| Slc26a4 |
A |
G |
12: 31,599,910 (GRCm39) |
|
probably null |
Het |
| Spata31g1 |
T |
A |
4: 42,970,952 (GRCm39) |
L59* |
probably null |
Het |
| Sytl1 |
A |
T |
4: 132,980,536 (GRCm39) |
C551S |
possibly damaging |
Het |
| Uri1 |
T |
C |
7: 37,664,925 (GRCm39) |
N256D |
probably benign |
Het |
| Vmn2r114 |
T |
G |
17: 23,529,568 (GRCm39) |
D178A |
probably damaging |
Het |
| Vmn2r23 |
C |
T |
6: 123,690,410 (GRCm39) |
L429F |
probably benign |
Het |
| Washc2 |
T |
C |
6: 116,221,577 (GRCm39) |
L685P |
probably damaging |
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 |
|
IGL03121:Wipi2
|
APN |
5 |
142,648,857 (GRCm39) |
missense |
probably benign |
0.39 |
|
PIT4445001:Wipi2
|
UTSW |
5 |
142,652,639 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGCACACATTGCTGTCTGG -3'
(R):5'- TGGGCTAAATGAAGCTCATCCAACC -3'
Sequencing Primer
(F):5'- TCTGGACAGCACCCTCAAG -3'
(R):5'- gagccacctcacagccc -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation