Incidental Mutation 'IGL00668:Wmp'
| ID |
13506 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wmp
|
| Ensembl Gene |
ENSMUSG00000073006 |
| Gene Name |
WAVE homology in membrane protrusions |
| Synonyms |
Gm732, Whimp |
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
IGL00668
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
106989341-106992042 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 106990802 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 37
(Y37F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098848
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101290]
[ENSMUST00000155294]
|
| AlphaFold |
Q3V0P9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000101290
AA Change: Y37F
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000098848
Gene: ENSMUSG00000073006
AA Change: Y37F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
203 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
306 |
323 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
429 |
N/A |
INTRINSIC |
|
WH2
|
461 |
478 |
1.7e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155294
AA Change: Y50F
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 14 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Csmd3 |
A |
T |
15: 47,777,341 (GRCm39) |
D1188E |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,072,620 (GRCm39) |
L2726P |
possibly damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,221,048 (GRCm39) |
H21R |
probably benign |
Het |
| Il23r |
T |
C |
6: 67,400,612 (GRCm39) |
T573A |
probably damaging |
Het |
| Lima1 |
A |
T |
15: 99,700,038 (GRCm39) |
V147E |
possibly damaging |
Het |
| Med12 |
T |
C |
X: 100,324,792 (GRCm39) |
S666P |
probably benign |
Het |
| Mpo |
A |
G |
11: 87,688,160 (GRCm39) |
N273S |
probably benign |
Het |
| Phf20l1 |
T |
A |
15: 66,504,698 (GRCm39) |
Y780N |
probably damaging |
Het |
| Pigk |
A |
G |
3: 152,448,173 (GRCm39) |
T179A |
possibly damaging |
Het |
| Sec23b |
A |
G |
2: 144,401,138 (GRCm39) |
|
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,900,985 (GRCm39) |
E894G |
probably damaging |
Het |
| Slc38a11 |
T |
A |
2: 65,184,126 (GRCm39) |
D175V |
probably damaging |
Het |
| Sptan1 |
G |
A |
2: 29,883,968 (GRCm39) |
|
probably null |
Het |
| Tsbp1 |
A |
G |
17: 34,639,394 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Wmp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00928:Wmp
|
APN |
X |
106,989,449 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4482:Wmp
|
UTSW |
X |
106,990,237 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
X0010:Wmp
|
UTSW |
X |
106,990,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0011:Wmp
|
UTSW |
X |
106,989,455 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1176:Wmp
|
UTSW |
X |
106,989,431 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Posted On |
2012-12-06 |
Incidental Mutation