Incidental Mutation 'IGL02052:Wdfy1'
| ID |
185108 |
| 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: 0.125)
|
| Stock # |
IGL02052
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
79679979-79753764 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79692661 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 219
(S219P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109143
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000113510]
[ENSMUST00000113511]
[ENSMUST00000113512]
[ENSMUST00000113513]
[ENSMUST00000113514]
[ENSMUST00000113515]
[ENSMUST00000187005]
|
| AlphaFold |
E9Q4P1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113510
|
| SMART Domains |
Protein: ENSMUSP00000109138
Gene: ENSMUSG00000073643
| 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 |
|
Blast:WD40
|
145 |
163 |
2e-6 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113511
|
| SMART Domains |
Protein: ENSMUSP00000109139
Gene: ENSMUSG00000073643
| 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 |
|
Blast:WD40
|
145 |
163 |
2e-6 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113512
AA Change: S219P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109140
Gene: ENSMUSG00000073643
AA Change: S219P
| 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: S219P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109141
Gene: ENSMUSG00000073643
AA Change: S219P
| 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: S219P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109142
Gene: ENSMUSG00000073643
AA Change: S219P
| 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: S219P
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109143
Gene: ENSMUSG00000073643
AA Change: S219P
| 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 |
noncoding transcript
Transcript: ENSMUST00000127771
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130714
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef37 |
C |
T |
18: 61,632,839 (GRCm39) |
V533M |
probably damaging |
Het |
| Bicd2 |
A |
G |
13: 49,532,665 (GRCm39) |
D343G |
possibly damaging |
Het |
| Ccl26 |
C |
T |
5: 135,592,193 (GRCm39) |
S48N |
possibly damaging |
Het |
| Cdkn1b |
A |
T |
6: 134,897,970 (GRCm39) |
R30* |
probably null |
Het |
| Cds1 |
G |
T |
5: 101,962,338 (GRCm39) |
V318L |
probably benign |
Het |
| Ceacam11 |
A |
G |
7: 17,707,548 (GRCm39) |
S111G |
probably benign |
Het |
| Cntn1 |
A |
C |
15: 92,189,584 (GRCm39) |
I636L |
possibly damaging |
Het |
| Cog2 |
G |
A |
8: 125,269,627 (GRCm39) |
|
probably null |
Het |
| Cyp2g1 |
G |
A |
7: 26,513,719 (GRCm39) |
|
probably benign |
Het |
| Ddx54 |
T |
C |
5: 120,763,783 (GRCm39) |
V644A |
possibly damaging |
Het |
| Dnah1 |
T |
C |
14: 30,990,743 (GRCm39) |
Q3192R |
probably damaging |
Het |
| Dyrk2 |
T |
G |
10: 118,696,448 (GRCm39) |
H270P |
probably damaging |
Het |
| Ephb6 |
A |
G |
6: 41,590,256 (GRCm39) |
T3A |
probably benign |
Het |
| Fam120a |
G |
A |
13: 49,087,421 (GRCm39) |
|
probably benign |
Het |
| Fam184a |
A |
G |
10: 53,573,216 (GRCm39) |
|
probably benign |
Het |
| Fmo1 |
A |
G |
1: 162,677,629 (GRCm39) |
|
probably null |
Het |
| Gaa |
A |
G |
11: 119,175,021 (GRCm39) |
Y874C |
possibly damaging |
Het |
| Gabrr1 |
T |
A |
4: 33,152,567 (GRCm39) |
I169N |
probably damaging |
Het |
| Gm13734 |
T |
C |
2: 86,966,665 (GRCm39) |
|
probably null |
Het |
| Gnb1 |
T |
C |
4: 155,618,148 (GRCm39) |
|
probably benign |
Het |
| Hecw2 |
G |
T |
1: 53,965,670 (GRCm39) |
F385L |
probably benign |
Het |
| Kif5a |
C |
T |
10: 127,079,368 (GRCm39) |
V277M |
probably damaging |
Het |
| Mogat2 |
A |
T |
7: 98,887,771 (GRCm39) |
M1K |
probably null |
Het |
| Mrgprx2 |
A |
T |
7: 48,132,042 (GRCm39) |
W259R |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,303,553 (GRCm39) |
L410S |
probably damaging |
Het |
| Ntn4 |
T |
G |
10: 93,543,211 (GRCm39) |
N312K |
probably damaging |
Het |
| Papss2 |
T |
C |
19: 32,637,983 (GRCm39) |
V365A |
possibly damaging |
Het |
| Pde4c |
A |
G |
8: 71,201,062 (GRCm39) |
N420S |
probably damaging |
Het |
| Plec |
C |
T |
15: 76,064,541 (GRCm39) |
R1911H |
probably damaging |
Het |
| Pramel21 |
A |
C |
4: 143,341,643 (GRCm39) |
D24A |
probably benign |
Het |
| Rnf19b |
A |
G |
4: 128,965,613 (GRCm39) |
H237R |
probably damaging |
Het |
| Slfn4 |
T |
C |
11: 83,077,800 (GRCm39) |
L196P |
possibly damaging |
Het |
| Steap2 |
G |
T |
5: 5,723,586 (GRCm39) |
F431L |
probably damaging |
Het |
| Tex15 |
A |
G |
8: 34,072,493 (GRCm39) |
E2680G |
probably benign |
Het |
| Tmprss15 |
A |
T |
16: 78,884,394 (GRCm39) |
I96N |
probably damaging |
Het |
| Trim34a |
T |
G |
7: 103,897,038 (GRCm39) |
V34G |
probably benign |
Het |
| Ttyh1 |
A |
G |
7: 4,133,573 (GRCm39) |
|
probably benign |
Het |
| Usp29 |
A |
C |
7: 6,965,525 (GRCm39) |
H456P |
probably benign |
Het |
| Zfp738 |
A |
T |
13: 67,819,600 (GRCm39) |
S117R |
possibly 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 |
|
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 |
2014-05-07 |
Incidental Mutation