Incidental Mutation 'IGL03077:Wdfy1'
| ID |
417736 |
| 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 # |
IGL03077
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
79679979-79753764 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79692622 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 232
(K232E)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000113512
AA Change: K232E
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109140
Gene: ENSMUSG00000073643
AA Change: K232E
| 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 |
possibly damaging
Transcript: ENSMUST00000113513
AA Change: K232E
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109141
Gene: ENSMUSG00000073643
AA Change: K232E
| 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 |
possibly damaging
Transcript: ENSMUST00000113514
AA Change: K232E
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109142
Gene: ENSMUSG00000073643
AA Change: K232E
| 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 |
possibly damaging
Transcript: ENSMUST00000113515
AA Change: K232E
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109143
Gene: ENSMUSG00000073643
AA Change: K232E
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
A |
G |
17: 84,999,308 (GRCm39) |
N135D |
probably damaging |
Het |
| Ak4 |
T |
C |
4: 101,277,148 (GRCm39) |
L44P |
probably damaging |
Het |
| Angpt1 |
C |
A |
15: 42,339,818 (GRCm39) |
G298* |
probably null |
Het |
| Appl2 |
C |
T |
10: 83,457,623 (GRCm39) |
|
probably benign |
Het |
| Arhgap19 |
T |
A |
19: 41,769,760 (GRCm39) |
H341L |
probably benign |
Het |
| Chmp5 |
T |
C |
4: 40,952,438 (GRCm39) |
S98P |
probably benign |
Het |
| Chp1 |
A |
T |
2: 119,415,081 (GRCm39) |
Q161L |
probably benign |
Het |
| Clgn |
T |
C |
8: 84,150,769 (GRCm39) |
V478A |
probably benign |
Het |
| Cplane1 |
G |
A |
15: 8,242,279 (GRCm39) |
|
probably benign |
Het |
| Cyp2b19 |
A |
T |
7: 26,461,809 (GRCm39) |
M210L |
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 137,853,166 (GRCm39) |
V244D |
probably damaging |
Het |
| Ftcd |
T |
C |
10: 76,417,461 (GRCm39) |
I300T |
probably damaging |
Het |
| Gm12886 |
C |
T |
4: 121,272,697 (GRCm39) |
|
probably benign |
Het |
| Klrb1f |
A |
T |
6: 129,030,765 (GRCm39) |
E92V |
probably null |
Het |
| Krt23 |
A |
G |
11: 99,374,700 (GRCm39) |
|
probably benign |
Het |
| Mib2 |
T |
G |
4: 155,743,900 (GRCm39) |
R47S |
probably benign |
Het |
| Mindy4 |
A |
G |
6: 55,286,315 (GRCm39) |
T728A |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,916,901 (GRCm39) |
N407S |
probably benign |
Het |
| Nlrp4f |
A |
G |
13: 65,342,412 (GRCm39) |
V411A |
probably benign |
Het |
| Or10ag56 |
T |
C |
2: 87,140,056 (GRCm39) |
*328Q |
probably null |
Het |
| Or4c12b |
A |
C |
2: 89,647,486 (GRCm39) |
D266A |
probably damaging |
Het |
| Otud4 |
T |
G |
8: 80,400,087 (GRCm39) |
S934A |
probably damaging |
Het |
| P3h1 |
C |
T |
4: 119,093,983 (GRCm39) |
R213W |
probably damaging |
Het |
| Phrf1 |
A |
T |
7: 140,834,881 (GRCm39) |
K19* |
probably null |
Het |
| Prl3b1 |
A |
T |
13: 27,429,759 (GRCm39) |
M66L |
probably benign |
Het |
| Psmd7 |
T |
C |
8: 108,309,099 (GRCm39) |
T149A |
probably benign |
Het |
| Samd4b |
T |
C |
7: 28,105,868 (GRCm39) |
D450G |
probably damaging |
Het |
| Scn3a |
G |
A |
2: 65,367,016 (GRCm39) |
A2V |
probably damaging |
Het |
| Snrpa |
G |
A |
7: 26,891,186 (GRCm39) |
T95I |
probably benign |
Het |
| Traip |
A |
G |
9: 107,840,125 (GRCm39) |
|
probably benign |
Het |
| Trbc1 |
T |
A |
6: 41,515,383 (GRCm39) |
|
probably benign |
Het |
| Trim72 |
A |
T |
7: 127,607,013 (GRCm39) |
M181L |
probably benign |
Het |
| Ttc41 |
T |
C |
10: 86,594,212 (GRCm39) |
Y882H |
probably damaging |
Het |
| Vmn1r191 |
A |
C |
13: 22,363,316 (GRCm39) |
I146S |
probably benign |
Het |
| Vmn2r9 |
G |
T |
5: 108,996,173 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
A |
G |
19: 16,688,246 (GRCm39) |
S854P |
probably benign |
Het |
| Xpr1 |
A |
T |
1: 155,156,774 (GRCm39) |
D625E |
possibly damaging |
Het |
| Zbbx |
T |
A |
3: 74,989,153 (GRCm39) |
T317S |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation