Incidental Mutation 'IGL02969:Wdfy1'
| ID |
365730 |
| 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 # |
IGL02969
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
79679979-79753764 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79691588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 273
(V273A)
|
| 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: V273A
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000109140
Gene: ENSMUSG00000073643
AA Change: V273A
| 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: V273A
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000109141
Gene: ENSMUSG00000073643
AA Change: V273A
| 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: V273A
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000109142
Gene: ENSMUSG00000073643
AA Change: V273A
| 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: V273A
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000109143
Gene: ENSMUSG00000073643
AA Change: V273A
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
A |
G |
8: 79,946,866 (GRCm39) |
|
probably benign |
Het |
| Acsbg3 |
A |
T |
17: 57,190,751 (GRCm39) |
T440S |
probably damaging |
Het |
| Akap12 |
T |
A |
10: 4,304,864 (GRCm39) |
V558E |
probably damaging |
Het |
| Atg4c |
T |
C |
4: 99,146,624 (GRCm39) |
|
probably benign |
Het |
| Atg7 |
T |
A |
6: 114,701,884 (GRCm39) |
N673K |
possibly damaging |
Het |
| Brpf3 |
A |
G |
17: 29,040,279 (GRCm39) |
D900G |
probably benign |
Het |
| C2cd5 |
T |
C |
6: 143,025,669 (GRCm39) |
Y176C |
probably damaging |
Het |
| Cep70 |
A |
T |
9: 99,180,557 (GRCm39) |
I571F |
possibly damaging |
Het |
| Cir1 |
C |
T |
2: 73,134,120 (GRCm39) |
G150R |
probably null |
Het |
| Cyp46a1 |
T |
C |
12: 108,309,296 (GRCm39) |
V68A |
probably damaging |
Het |
| Dlgap2 |
A |
G |
8: 14,881,579 (GRCm39) |
T883A |
possibly damaging |
Het |
| Dnah2 |
C |
A |
11: 69,412,013 (GRCm39) |
K249N |
possibly damaging |
Het |
| Dnajc11 |
A |
G |
4: 152,062,503 (GRCm39) |
K434R |
probably benign |
Het |
| Eri3 |
A |
G |
4: 117,506,508 (GRCm39) |
Y279C |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,503,116 (GRCm39) |
Y4362N |
possibly damaging |
Het |
| Ilk |
A |
G |
7: 105,389,547 (GRCm39) |
K85E |
possibly damaging |
Het |
| Insrr |
G |
T |
3: 87,721,498 (GRCm39) |
G1135* |
probably null |
Het |
| Itgax |
T |
A |
7: 127,748,295 (GRCm39) |
M1108K |
probably benign |
Het |
| Mpzl3 |
C |
T |
9: 44,979,514 (GRCm39) |
T155I |
probably benign |
Het |
| Or4f57 |
A |
T |
2: 111,790,912 (GRCm39) |
C169S |
probably damaging |
Het |
| Or6c212 |
A |
T |
10: 129,559,065 (GRCm39) |
M116K |
probably damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Polr2h |
A |
G |
16: 20,537,807 (GRCm39) |
Y68C |
probably damaging |
Het |
| Pramel47 |
C |
T |
5: 95,489,258 (GRCm39) |
P234S |
probably benign |
Het |
| Rhobtb3 |
A |
G |
13: 76,091,550 (GRCm39) |
S2P |
probably damaging |
Het |
| Slc24a5 |
T |
C |
2: 124,925,147 (GRCm39) |
S263P |
probably damaging |
Het |
| Spz1 |
T |
G |
13: 92,711,851 (GRCm39) |
K208N |
possibly damaging |
Het |
| Tbpl2 |
C |
A |
2: 23,981,105 (GRCm39) |
C231F |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,938,440 (GRCm39) |
I869M |
probably damaging |
Het |
| Tesk1 |
G |
A |
4: 43,447,027 (GRCm39) |
E472K |
possibly damaging |
Het |
| Tesk1 |
C |
A |
4: 43,447,026 (GRCm39) |
C471* |
probably null |
Het |
| Thoc2l |
C |
T |
5: 104,667,209 (GRCm39) |
T577I |
probably benign |
Het |
| Tmem213 |
T |
A |
6: 38,092,601 (GRCm39) |
V111E |
probably damaging |
Het |
| Tmem232 |
A |
T |
17: 65,563,558 (GRCm39) |
Y612N |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,729,707 (GRCm39) |
|
probably benign |
Het |
| Vmn2r113 |
G |
A |
17: 23,177,591 (GRCm39) |
V792I |
probably benign |
Het |
| Wwp1 |
A |
G |
4: 19,623,200 (GRCm39) |
S762P |
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 |
|
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 |
2015-12-18 |
Incidental Mutation