Incidental Mutation 'IGL03157:Wdfy1'
ID |
411302 |
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 # |
IGL03157
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
79679979-79753764 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 79684035 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 367
(H367Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109143
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113512]
[ENSMUST00000113513]
[ENSMUST00000113514]
[ENSMUST00000113515]
[ENSMUST00000187005]
|
AlphaFold |
E9Q4P1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113512
AA Change: H367Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109140 Gene: ENSMUSG00000073643 AA Change: H367Y
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 damaging
Transcript: ENSMUST00000113513
AA Change: H367Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109141 Gene: ENSMUSG00000073643 AA Change: H367Y
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 damaging
Transcript: ENSMUST00000113514
AA Change: H367Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109142 Gene: ENSMUSG00000073643 AA Change: H367Y
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 damaging
Transcript: ENSMUST00000113515
AA Change: H367Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109143 Gene: ENSMUSG00000073643 AA Change: H367Y
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 |
Abcc9 |
G |
A |
6: 142,551,649 (GRCm39) |
|
probably benign |
Het |
Adam30 |
A |
C |
3: 98,069,612 (GRCm39) |
K482Q |
possibly damaging |
Het |
Aqp4 |
T |
C |
18: 15,533,037 (GRCm39) |
R19G |
probably benign |
Het |
Arhgap32 |
C |
T |
9: 32,170,430 (GRCm39) |
P1070L |
probably damaging |
Het |
Bcat2 |
T |
C |
7: 45,224,922 (GRCm39) |
I31T |
probably benign |
Het |
Csmd2 |
T |
A |
4: 128,308,092 (GRCm39) |
C1283* |
probably null |
Het |
Fasn |
A |
G |
11: 120,698,735 (GRCm39) |
I2487T |
probably benign |
Het |
Gys1 |
A |
G |
7: 45,089,323 (GRCm39) |
|
probably benign |
Het |
Helz |
A |
G |
11: 107,468,714 (GRCm39) |
D79G |
possibly damaging |
Het |
Il16 |
T |
C |
7: 83,371,611 (GRCm39) |
D65G |
probably damaging |
Het |
Iqgap1 |
C |
T |
7: 80,401,636 (GRCm39) |
E490K |
probably benign |
Het |
Kcnv2 |
A |
G |
19: 27,301,366 (GRCm39) |
K406E |
probably damaging |
Het |
Kif26b |
T |
A |
1: 178,743,930 (GRCm39) |
L1342H |
probably damaging |
Het |
Nlrp3 |
A |
G |
11: 59,440,372 (GRCm39) |
K650E |
possibly damaging |
Het |
Opn1sw |
T |
A |
6: 29,379,803 (GRCm39) |
N144Y |
possibly damaging |
Het |
Or2b2b |
T |
C |
13: 21,859,112 (GRCm39) |
M1V |
probably null |
Het |
Or6z1 |
A |
G |
7: 6,504,892 (GRCm39) |
L111P |
probably damaging |
Het |
Or8k30 |
T |
C |
2: 86,339,367 (GRCm39) |
L188P |
possibly damaging |
Het |
Ovol1 |
T |
C |
19: 5,601,635 (GRCm39) |
H129R |
probably benign |
Het |
Pigv |
T |
C |
4: 133,392,841 (GRCm39) |
S110G |
probably benign |
Het |
Pole |
T |
A |
5: 110,441,619 (GRCm39) |
F253L |
probably benign |
Het |
Samd3 |
T |
C |
10: 26,139,740 (GRCm39) |
Y291H |
probably benign |
Het |
Slc4a4 |
T |
A |
5: 89,304,372 (GRCm39) |
I605N |
probably damaging |
Het |
Sult1a1 |
T |
A |
7: 126,274,489 (GRCm39) |
Y58F |
probably damaging |
Het |
Tfrc |
T |
A |
16: 32,439,223 (GRCm39) |
D362E |
probably benign |
Het |
Thnsl2 |
T |
C |
6: 71,108,930 (GRCm39) |
T294A |
probably benign |
Het |
Tnfsf10 |
G |
A |
3: 27,380,106 (GRCm39) |
G57R |
possibly damaging |
Het |
Vps25 |
A |
T |
11: 101,147,723 (GRCm39) |
N73I |
probably benign |
Het |
Zfp568 |
T |
C |
7: 29,722,189 (GRCm39) |
L378P |
probably damaging |
Het |
|
Other mutations in Wdfy1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01131:Wdfy1
|
APN |
1 |
79,691,589 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
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 |
2016-08-02 |