Incidental Mutation 'IGL01131:Wdfy1'
| ID |
50322 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wdfy1
|
| Ensembl Gene |
ENSMUSG00000073643 |
| Gene Name |
WD repeat and FYVE domain containing 1 |
| Synonyms |
1700013B03Rik, 1700120F24Rik, Jr1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.133)
|
| Stock # |
IGL01131
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
79679979-79753764 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 79691589 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 273
(V273I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109143
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113512]
[ENSMUST00000113513]
[ENSMUST00000113514]
[ENSMUST00000113515]
[ENSMUST00000187005]
|
| AlphaFold |
E9Q4P1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113512
AA Change: V273I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| 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 |
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113514
AA Change: V273I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| 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 |
|
| 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
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
| Adgrf5 |
G |
T |
17: 43,733,400 (GRCm39) |
D75Y |
possibly damaging |
Het |
| Cfap20 |
T |
C |
8: 96,151,287 (GRCm39) |
D18G |
probably damaging |
Het |
| Cpne3 |
T |
C |
4: 19,543,318 (GRCm39) |
D160G |
probably damaging |
Het |
| Ercc3 |
A |
G |
18: 32,402,942 (GRCm39) |
*784W |
probably null |
Het |
| Fam53b |
T |
C |
7: 132,317,511 (GRCm39) |
E377G |
probably damaging |
Het |
| Far2 |
T |
C |
6: 148,052,096 (GRCm39) |
V125A |
possibly damaging |
Het |
| Fasn |
T |
C |
11: 120,705,445 (GRCm39) |
E1192G |
probably benign |
Het |
| Irf5 |
A |
G |
6: 29,536,102 (GRCm39) |
E372G |
probably damaging |
Het |
| Kif2c |
C |
T |
4: 117,029,562 (GRCm39) |
V140M |
probably damaging |
Het |
| Klre1 |
T |
C |
6: 129,561,133 (GRCm39) |
F165L |
possibly damaging |
Het |
| Kmt2a |
C |
T |
9: 44,732,467 (GRCm39) |
|
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,329,583 (GRCm39) |
C1728Y |
probably damaging |
Het |
| Muc4 |
C |
A |
16: 32,753,901 (GRCm38) |
T1259N |
possibly damaging |
Het |
| Nlrp9b |
A |
G |
7: 19,757,462 (GRCm39) |
D233G |
probably damaging |
Het |
| Nuf2 |
T |
C |
1: 169,349,933 (GRCm39) |
|
probably benign |
Het |
| Nynrin |
A |
G |
14: 56,110,142 (GRCm39) |
K1750E |
probably damaging |
Het |
| Or5b109 |
A |
G |
19: 13,212,103 (GRCm39) |
D163G |
probably benign |
Het |
| Parp4 |
C |
A |
14: 56,823,217 (GRCm39) |
|
probably benign |
Het |
| Rbms1 |
T |
C |
2: 60,589,180 (GRCm39) |
M287V |
probably benign |
Het |
| Rhox3c |
G |
A |
X: 36,651,982 (GRCm39) |
R71K |
probably damaging |
Het |
| Rufy1 |
A |
G |
11: 50,282,850 (GRCm39) |
L638P |
probably damaging |
Het |
| Slc15a3 |
G |
A |
19: 10,834,986 (GRCm39) |
|
probably benign |
Het |
| Slc26a9 |
T |
C |
1: 131,683,280 (GRCm39) |
|
probably null |
Het |
| Slc6a13 |
A |
G |
6: 121,298,600 (GRCm39) |
Y150C |
probably damaging |
Het |
| Slitrk6 |
A |
T |
14: 110,989,008 (GRCm39) |
L233Q |
probably damaging |
Het |
| Ugt3a1 |
T |
A |
15: 9,365,248 (GRCm39) |
I287N |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,471,335 (GRCm39) |
N1778S |
probably benign |
Het |
| Vmn1r212 |
T |
C |
13: 23,067,329 (GRCm39) |
N335D |
unknown |
Het |
|
| Other mutations in Wdfy1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01473:Wdfy1
|
APN |
1 |
79,685,182 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01934:Wdfy1
|
APN |
1 |
79,717,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02052:Wdfy1
|
APN |
1 |
79,692,661 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02969:Wdfy1
|
APN |
1 |
79,691,588 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03077:Wdfy1
|
APN |
1 |
79,692,622 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL03157:Wdfy1
|
APN |
1 |
79,684,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1592:Wdfy1
|
UTSW |
1 |
79,683,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1679:Wdfy1
|
UTSW |
1 |
79,685,192 (GRCm39) |
nonsense |
probably null |
|
|
R1770:Wdfy1
|
UTSW |
1 |
79,686,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2495:Wdfy1
|
UTSW |
1 |
79,685,222 (GRCm39) |
missense |
probably null |
1.00 |
|
R3821:Wdfy1
|
UTSW |
1 |
79,684,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4431:Wdfy1
|
UTSW |
1 |
79,691,583 (GRCm39) |
nonsense |
probably null |
|
|
R8489:Wdfy1
|
UTSW |
1 |
79,739,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8923:Wdfy1
|
UTSW |
1 |
79,684,017 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9008:Wdfy1
|
UTSW |
1 |
79,692,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation