Incidental Mutation 'IGL02866:Wasf3'
| ID |
362325 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wasf3
|
| Ensembl Gene |
ENSMUSG00000029636 |
| Gene Name |
WASP family, member 3 |
| Synonyms |
Wave3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02866
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
146321795-146410425 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 146405131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 364
(Q364K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016143
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016143]
|
| AlphaFold |
Q8VHI6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016143
AA Change: Q364K
PolyPhen 2
Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000016143
Gene: ENSMUSG00000029636
AA Change: Q364K
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3P8C|D
|
1 |
171 |
1e-86 |
PDB |
|
low complexity region
|
172 |
184 |
N/A |
INTRINSIC |
|
low complexity region
|
301 |
313 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
354 |
N/A |
INTRINSIC |
|
low complexity region
|
395 |
422 |
N/A |
INTRINSIC |
|
WH2
|
439 |
456 |
4.97e-5 |
SMART |
|
low complexity region
|
484 |
501 |
N/A |
INTRINSIC |
|
| 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 member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all family members. The multiprotein complex serves to tranduce signals that involve changes in cell shape, motility or function. A pseudogene of this gene have been defined on chromosome 6. Alternative splicing results in multiple transcript variants [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal platelet physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
T |
18: 59,181,914 (GRCm39) |
M1118L |
possibly damaging |
Het |
| Ckmt2 |
A |
T |
13: 92,006,400 (GRCm39) |
L315* |
probably null |
Het |
| Dusp28 |
T |
A |
1: 92,835,378 (GRCm39) |
I154N |
probably benign |
Het |
| Ect2l |
A |
T |
10: 18,035,565 (GRCm39) |
I420N |
probably damaging |
Het |
| Erap1 |
C |
A |
13: 74,816,118 (GRCm39) |
N82K |
probably damaging |
Het |
| Gsdma3 |
A |
G |
11: 98,520,585 (GRCm39) |
D72G |
possibly damaging |
Het |
| Hectd1 |
T |
A |
12: 51,837,396 (GRCm39) |
S720C |
probably damaging |
Het |
| Jakmip2 |
T |
G |
18: 43,685,266 (GRCm39) |
E674A |
probably benign |
Het |
| Kcnt2 |
T |
C |
1: 140,352,986 (GRCm39) |
S232P |
probably damaging |
Het |
| Kmo |
T |
C |
1: 175,481,154 (GRCm39) |
S291P |
probably damaging |
Het |
| Kpnb1 |
A |
G |
11: 97,068,112 (GRCm39) |
V286A |
probably damaging |
Het |
| Ldah |
T |
A |
12: 8,288,602 (GRCm39) |
V83D |
probably benign |
Het |
| Mrgprb5 |
T |
A |
7: 47,817,914 (GRCm39) |
I274F |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,367,428 (GRCm39) |
I988T |
probably damaging |
Het |
| Myh3 |
A |
G |
11: 66,979,849 (GRCm39) |
E596G |
probably benign |
Het |
| Ndufs1 |
T |
C |
1: 63,186,300 (GRCm39) |
I52V |
probably benign |
Het |
| Nhsl1 |
G |
T |
10: 18,403,355 (GRCm39) |
D1363Y |
probably damaging |
Het |
| Or14c41 |
T |
A |
7: 86,234,901 (GRCm39) |
C139* |
probably null |
Het |
| Or51f1e |
C |
A |
7: 102,747,590 (GRCm39) |
T214K |
probably damaging |
Het |
| Or5b98 |
A |
G |
19: 12,931,719 (GRCm39) |
I255M |
possibly damaging |
Het |
| Or6c66 |
A |
C |
10: 129,461,575 (GRCm39) |
Y118* |
probably null |
Het |
| Pcdhb19 |
T |
C |
18: 37,632,163 (GRCm39) |
S653P |
possibly damaging |
Het |
| Plcb3 |
A |
G |
19: 6,935,044 (GRCm39) |
L869P |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,649,191 (GRCm39) |
F3722I |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 75,968,674 (GRCm39) |
K206R |
probably damaging |
Het |
| Pwwp3b |
T |
C |
X: 138,135,753 (GRCm39) |
V97A |
probably benign |
Het |
| Robo3 |
C |
A |
9: 37,333,602 (GRCm39) |
R703L |
possibly damaging |
Het |
| Tob1 |
A |
T |
11: 94,104,883 (GRCm39) |
M140L |
possibly damaging |
Het |
| Ubc |
A |
T |
5: 125,464,486 (GRCm39) |
D280E |
probably benign |
Het |
|
| Other mutations in Wasf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Wasf3
|
APN |
5 |
146,392,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01992:Wasf3
|
APN |
5 |
146,392,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4737:Wasf3
|
UTSW |
5 |
146,407,060 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0622:Wasf3
|
UTSW |
5 |
146,403,602 (GRCm39) |
splice site |
probably null |
|
|
R1083:Wasf3
|
UTSW |
5 |
146,372,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1214:Wasf3
|
UTSW |
5 |
146,407,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1259:Wasf3
|
UTSW |
5 |
146,388,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1355:Wasf3
|
UTSW |
5 |
146,407,018 (GRCm39) |
splice site |
probably benign |
|
|
R1370:Wasf3
|
UTSW |
5 |
146,407,018 (GRCm39) |
splice site |
probably benign |
|
|
R1727:Wasf3
|
UTSW |
5 |
146,403,769 (GRCm39) |
missense |
probably benign |
|
|
R4837:Wasf3
|
UTSW |
5 |
146,397,788 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5080:Wasf3
|
UTSW |
5 |
146,397,907 (GRCm39) |
missense |
probably benign |
|
|
R6046:Wasf3
|
UTSW |
5 |
146,407,166 (GRCm39) |
missense |
unknown |
|
|
R6386:Wasf3
|
UTSW |
5 |
146,390,227 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7181:Wasf3
|
UTSW |
5 |
146,403,615 (GRCm39) |
missense |
probably benign |
|
|
R7229:Wasf3
|
UTSW |
5 |
146,392,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8438:Wasf3
|
UTSW |
5 |
146,390,237 (GRCm39) |
missense |
probably benign |
|
|
R8830:Wasf3
|
UTSW |
5 |
146,403,672 (GRCm39) |
nonsense |
probably null |
|
|
R8909:Wasf3
|
UTSW |
5 |
146,392,410 (GRCm39) |
missense |
|
|
|
R9182:Wasf3
|
UTSW |
5 |
146,403,635 (GRCm39) |
nonsense |
probably null |
|
|
R9287:Wasf3
|
UTSW |
5 |
146,397,857 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
| Posted On |
2015-12-18 |
Incidental Mutation