Incidental Mutation 'IGL01131:Wdfy1'
| ID | 50322 |
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| Institutional Source |
Australian Phenomics Network
(link to record)
|
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| Gene Symbol |
Wdfy1
|
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| Ensembl Gene |
ENSMUSG00000073643 |
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| Gene Name | WD repeat and FYVE domain containing 1 |
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| Synonyms | 1700120F24Rik, 1700013B03Rik, Jr1 |
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| Accession Numbers | |
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| Is this an essential gene? |
Probably non essential (E-score: 0.104)
|
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| Stock # | IGL01131
|
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| Quality Score | |
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| Status |
|
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| Chromosome | 1 |
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| Chromosomal Location | 79702262-79776143 bp(-) (GRCm38) |
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| Type of Mutation | missense |
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| DNA Base Change (assembly) |
C to T
at 79713872 bp
|
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| Zygosity | Heterozygous |
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| Amino Acid Change |
Valine to Isoleucine
at position 273
(V273I)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000109143
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113512]
[ENSMUST00000113513]
[ENSMUST00000113514]
[ENSMUST00000113515]
[ENSMUST00000187005]
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000113512
AA Change: V273I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
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| SMART Domains |
Protein: ENSMUSP00000109140
Gene: ENSMUSG00000073643
AA Change: V273I
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
13 |
52 |
4.95e-4 |
SMART |
|
WD40
|
56 |
96 |
5.5e1 |
SMART |
|
WD40
|
103 |
142 |
1.19e0 |
SMART |
|
WD40
|
145 |
183 |
2.84e2 |
SMART |
|
WD40
|
188 |
227 |
1.13e-7 |
SMART |
|
WD40
|
231 |
270 |
1.22e-3 |
SMART |
|
FYVE
|
276 |
353 |
3.95e-23 |
SMART |
|
WD40
|
355 |
394 |
1.7e-2 |
SMART |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000113513
AA Change: V273I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000109141
Gene: ENSMUSG00000073643
AA Change: V273I
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
13 |
52 |
4.95e-4 |
SMART |
|
WD40
|
56 |
96 |
5.5e1 |
SMART |
|
WD40
|
103 |
142 |
1.19e0 |
SMART |
|
WD40
|
145 |
183 |
2.84e2 |
SMART |
|
WD40
|
188 |
227 |
1.13e-7 |
SMART |
|
WD40
|
231 |
270 |
1.22e-3 |
SMART |
|
FYVE
|
276 |
353 |
3.95e-23 |
SMART |
|
WD40
|
355 |
394 |
1.7e-2 |
SMART |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000113514
AA Change: V273I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
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| SMART Domains |
Protein: ENSMUSP00000109142
Gene: ENSMUSG00000073643
AA Change: V273I
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
13 |
52 |
4.95e-4 |
SMART |
|
WD40
|
56 |
96 |
5.5e1 |
SMART |
|
WD40
|
103 |
142 |
1.19e0 |
SMART |
|
WD40
|
145 |
183 |
2.84e2 |
SMART |
|
WD40
|
188 |
227 |
1.13e-7 |
SMART |
|
WD40
|
231 |
270 |
1.22e-3 |
SMART |
|
FYVE
|
276 |
353 |
3.95e-23 |
SMART |
|
WD40
|
355 |
394 |
1.7e-2 |
SMART |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000113515
AA Change: V273I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000109143
Gene: ENSMUSG00000073643
AA Change: V273I
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
13 |
52 |
4.95e-4 |
SMART |
|
WD40
|
56 |
96 |
5.5e1 |
SMART |
|
WD40
|
103 |
142 |
1.19e0 |
SMART |
|
WD40
|
145 |
183 |
2.84e2 |
SMART |
|
WD40
|
188 |
227 |
1.13e-7 |
SMART |
|
WD40
|
231 |
270 |
1.22e-3 |
SMART |
|
FYVE
|
276 |
353 |
3.95e-23 |
SMART |
|
WD40
|
355 |
394 |
1.7e-2 |
SMART |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187005
|
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| SMART Domains |
Protein: ENSMUSP00000139961
Gene: ENSMUSG00000073643
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
13 |
52 |
3.2e-6 |
SMART |
|
Blast:WD40
|
56 |
93 |
1e-21 |
BLAST |
|
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| Coding Region Coverage |
|
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| Validation Efficiency |
|
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| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a phosphatidylinositol 3-phosphate binding protein, which contains a FYVE zinc finger domain and multiple WD-40 repeat domains. When exogenously expressed, it localizes to early endosomes. Mutagenesis analysis demonstrates that this endosomal localization is mediated by the FYVE domain. [provided by RefSeq, Jan 2015]
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,950,275 |
V124I |
probably damaging |
Het |
| Adgrf5 |
G |
T |
17: 43,422,509 |
D75Y |
possibly damaging |
Het |
| Cfap20 |
T |
C |
8: 95,424,659 |
D18G |
probably damaging |
Het |
| Cpne3 |
T |
C |
4: 19,543,318 |
D160G |
probably damaging |
Het |
| Ercc3 |
A |
G |
18: 32,269,889 |
*784W |
probably null |
Het |
| Fam53b |
T |
C |
7: 132,715,782 |
E377G |
probably damaging |
Het |
| Far2 |
T |
C |
6: 148,150,598 |
V125A |
possibly damaging |
Het |
| Fasn |
T |
C |
11: 120,814,619 |
E1192G |
probably benign |
Het |
| Irf5 |
A |
G |
6: 29,536,103 |
E372G |
probably damaging |
Het |
| Kif2c |
C |
T |
4: 117,172,365 |
V140M |
probably damaging |
Het |
| Klre1 |
T |
C |
6: 129,584,170 |
F165L |
possibly damaging |
Het |
| Kmt2a |
C |
T |
9: 44,821,170 |
|
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,499,239 |
C1728Y |
probably damaging |
Het |
| Muc4 |
C |
A |
16: 32,753,901 |
T1259N |
possibly damaging |
Het |
| Nlrp9b |
A |
G |
7: 20,023,537 |
D233G |
probably damaging |
Het |
| Nuf2 |
T |
C |
1: 169,522,364 |
|
probably benign |
Het |
| Nynrin |
A |
G |
14: 55,872,685 |
K1750E |
probably damaging |
Het |
| Olfr1463 |
A |
G |
19: 13,234,739 |
D163G |
probably benign |
Het |
| Parp4 |
C |
A |
14: 56,585,760 |
|
probably benign |
Het |
| Rbms1 |
T |
C |
2: 60,758,836 |
M287V |
probably benign |
Het |
| Rhox3c |
G |
A |
X: 37,470,329 |
R71K |
probably damaging |
Het |
| Rufy1 |
A |
G |
11: 50,392,023 |
L638P |
probably damaging |
Het |
| Slc15a3 |
G |
A |
19: 10,857,622 |
|
probably benign |
Het |
| Slc26a9 |
T |
C |
1: 131,755,542 |
|
probably null |
Het |
| Slc6a13 |
A |
G |
6: 121,321,641 |
Y150C |
probably damaging |
Het |
| Slitrk6 |
A |
T |
14: 110,751,576 |
L233Q |
probably damaging |
Het |
| Ugt3a2 |
T |
A |
15: 9,365,162 |
I287N |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,564,053 |
N1778S |
probably benign |
Het |
| Vmn1r212 |
T |
C |
13: 22,883,159 |
N335D |
unknown |
Het |
|
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| Other mutations in Wdfy1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01473:Wdfy1
|
APN |
1 |
79707465 |
missense |
probably benign |
0.00 |
|
IGL01934:Wdfy1
|
APN |
1 |
79740116 |
missense |
probably damaging |
1.00 |
|
IGL02052:Wdfy1
|
APN |
1 |
79714944 |
missense |
probably damaging |
0.99 |
|
IGL02969:Wdfy1
|
APN |
1 |
79713871 |
missense |
probably benign |
0.09 |
|
IGL03077:Wdfy1
|
APN |
1 |
79714905 |
missense |
possibly damaging |
0.66 |
|
IGL03157:Wdfy1
|
APN |
1 |
79706318 |
missense |
probably damaging |
1.00 |
|
R1592:Wdfy1
|
UTSW |
1 |
79706255 |
missense |
probably damaging |
1.00 |
|
R1679:Wdfy1
|
UTSW |
1 |
79707475 |
nonsense |
probably null |
|
|
R1770:Wdfy1
|
UTSW |
1 |
79709140 |
missense |
probably damaging |
1.00 |
|
R2495:Wdfy1
|
UTSW |
1 |
79707505 |
missense |
probably null |
1.00 |
|
R3821:Wdfy1
|
UTSW |
1 |
79706300 |
missense |
probably benign |
0.00 |
|
R4431:Wdfy1
|
UTSW |
1 |
79713866 |
nonsense |
probably null |
|
|
R8489:Wdfy1
|
UTSW |
1 |
79761651 |
missense |
probably damaging |
1.00 |
|
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| Posted On | 2013-06-21 |
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