Incidental Mutation 'R1214:Wasf3'
| ID |
99519 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wasf3
|
| Ensembl Gene |
ENSMUSG00000029636 |
| Gene Name |
WASP family, member 3 |
| Synonyms |
Wave3 |
| MMRRC Submission |
039283-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1214 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
146321795-146410425 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 146407098 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 473
(V473M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016143
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016143]
|
| AlphaFold |
Q8VHI6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016143
AA Change: V473M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000016143
Gene: ENSMUSG00000029636
AA Change: V473M
| 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 |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.0%
|
| 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: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Dcdc2c |
A |
T |
12: 28,580,429 (GRCm39) |
Y201* |
probably null |
Het |
| Dock9 |
C |
T |
14: 121,823,728 (GRCm39) |
V1395I |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Micall2 |
T |
C |
5: 139,697,396 (GRCm39) |
S652G |
probably damaging |
Het |
| Or1j13 |
G |
T |
2: 36,369,981 (GRCm39) |
H54N |
possibly damaging |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Or4f4b |
T |
C |
2: 111,314,237 (GRCm39) |
F154S |
probably damaging |
Het |
| Ptpre |
A |
T |
7: 135,280,987 (GRCm39) |
S643C |
probably damaging |
Het |
| Slc26a5 |
T |
A |
5: 22,019,981 (GRCm39) |
I530F |
probably damaging |
Het |
| Slfn5 |
A |
G |
11: 82,850,917 (GRCm39) |
M405V |
probably benign |
Het |
| Ttc29 |
A |
G |
8: 79,052,211 (GRCm39) |
Y364C |
probably damaging |
Het |
| Tut7 |
A |
G |
13: 59,953,140 (GRCm39) |
V100A |
possibly damaging |
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 |
|
IGL02866:Wasf3
|
APN |
5 |
146,405,131 (GRCm39) |
missense |
probably benign |
0.28 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCGGCCTGTTGTGTTACCAAG -3'
(R):5'- CTGAGAGGGAAGCAAGATGCTGTTC -3'
Sequencing Primer
(F):5'- TGTTACCAAGCAGTAGCACAG -3'
(R):5'- GTTCCAGGGTGATGCACTAATAC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation