Incidental Mutation 'IGL03039:Wdfy2'
| ID |
408815 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wdfy2
|
| Ensembl Gene |
ENSMUSG00000014547 |
| Gene Name |
WD repeat and FYVE domain containing 2 |
| Synonyms |
B130024L21Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.259)
|
| Stock # |
IGL03039
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
63075127-63198958 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 63186169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 268
(V268A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000014691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014691]
|
| AlphaFold |
Q8BUB4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000014691
AA Change: V268A
PolyPhen 2
Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000014691
Gene: ENSMUSG00000014547
AA Change: V268A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
13 |
52 |
1.92e0 |
SMART |
|
Blast:WD40
|
56 |
96 |
1e-21 |
BLAST |
|
WD40
|
103 |
142 |
1.43e1 |
SMART |
|
Blast:WD40
|
145 |
183 |
2e-16 |
BLAST |
|
WD40
|
188 |
227 |
6.68e-10 |
SMART |
|
WD40
|
231 |
270 |
5.31e-4 |
SMART |
|
FYVE
|
276 |
353 |
1.04e-22 |
SMART |
|
WD40
|
355 |
394 |
7e-4 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains two WD domains and an FYVE zinc finger region. The function of this gene is unknown. An alternatively spliced transcript variant of this gene may exist. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
T |
C |
12: 113,454,502 (GRCm39) |
C440R |
probably damaging |
Het |
| Agbl2 |
A |
G |
2: 90,631,566 (GRCm39) |
D308G |
possibly damaging |
Het |
| Cfh |
G |
T |
1: 140,063,999 (GRCm39) |
Q408K |
possibly damaging |
Het |
| Chrna7 |
A |
G |
7: 62,798,340 (GRCm39) |
L114P |
probably damaging |
Het |
| Defa35 |
G |
A |
8: 21,555,839 (GRCm39) |
C66Y |
probably damaging |
Het |
| Dnah12 |
C |
A |
14: 26,445,667 (GRCm39) |
Q743K |
probably benign |
Het |
| Elapor2 |
A |
G |
5: 9,468,055 (GRCm39) |
E241G |
probably benign |
Het |
| Esco2 |
T |
C |
14: 66,068,867 (GRCm39) |
K148E |
probably damaging |
Het |
| Gm17079 |
T |
A |
14: 51,930,518 (GRCm39) |
E109V |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,818,769 (GRCm39) |
|
probably benign |
Het |
| Igkv1-88 |
T |
C |
6: 68,839,276 (GRCm39) |
Y112C |
possibly damaging |
Het |
| Igkv4-50 |
T |
C |
6: 69,678,042 (GRCm39) |
R21G |
probably benign |
Het |
| Kbtbd11 |
A |
G |
8: 15,077,467 (GRCm39) |
D22G |
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,781,435 (GRCm39) |
D769G |
probably benign |
Het |
| Kdm2b |
C |
A |
5: 123,019,734 (GRCm39) |
W817L |
probably benign |
Het |
| Myo18b |
A |
G |
5: 112,988,637 (GRCm39) |
V983A |
probably damaging |
Het |
| Nr1d2 |
A |
T |
14: 18,215,184 (GRCm38) |
M276K |
probably benign |
Het |
| Or10ag59 |
T |
A |
2: 87,405,536 (GRCm39) |
M36K |
probably benign |
Het |
| Or2ak7 |
T |
A |
11: 58,574,837 (GRCm39) |
V46D |
probably damaging |
Het |
| Phf20 |
T |
C |
2: 156,140,461 (GRCm39) |
Y712H |
probably damaging |
Het |
| Phkg2 |
T |
A |
7: 127,178,866 (GRCm39) |
Y27* |
probably null |
Het |
| Pomt2 |
C |
A |
12: 87,157,140 (GRCm39) |
L726F |
probably benign |
Het |
| Setd3 |
T |
C |
12: 108,129,229 (GRCm39) |
|
probably null |
Het |
| Skint4 |
T |
C |
4: 111,981,847 (GRCm39) |
V272A |
probably benign |
Het |
| Slc41a2 |
A |
G |
10: 83,119,722 (GRCm39) |
Y347H |
probably benign |
Het |
| Slc45a2 |
T |
C |
15: 11,012,773 (GRCm39) |
S259P |
probably benign |
Het |
| Tgfbr3 |
A |
C |
5: 107,325,665 (GRCm39) |
|
probably benign |
Het |
| Tgfbrap1 |
A |
T |
1: 43,115,088 (GRCm39) |
I4N |
possibly damaging |
Het |
| Trh |
C |
A |
6: 92,220,709 (GRCm39) |
R51L |
probably damaging |
Het |
| Vars2 |
A |
T |
17: 35,975,013 (GRCm39) |
V312E |
probably damaging |
Het |
|
| Other mutations in Wdfy2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00228:Wdfy2
|
APN |
14 |
63,181,526 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02374:Wdfy2
|
APN |
14 |
63,171,833 (GRCm39) |
missense |
probably benign |
0.06 |
|
Special_k
|
UTSW |
14 |
63,186,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0391:Wdfy2
|
UTSW |
14 |
63,162,582 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R0925:Wdfy2
|
UTSW |
14 |
63,167,675 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1711:Wdfy2
|
UTSW |
14 |
63,181,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4299:Wdfy2
|
UTSW |
14 |
63,162,589 (GRCm39) |
nonsense |
probably null |
|
|
R5372:Wdfy2
|
UTSW |
14 |
63,192,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6418:Wdfy2
|
UTSW |
14 |
63,162,582 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6466:Wdfy2
|
UTSW |
14 |
63,186,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7055:Wdfy2
|
UTSW |
14 |
63,137,748 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7977:Wdfy2
|
UTSW |
14 |
63,189,380 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R7987:Wdfy2
|
UTSW |
14 |
63,189,380 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
X0019:Wdfy2
|
UTSW |
14 |
63,186,192 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Wdfy2
|
UTSW |
14 |
63,171,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation