Incidental Mutation 'R6386:Wasf3'
| ID |
515600 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wasf3
|
| Ensembl Gene |
ENSMUSG00000029636 |
| Gene Name |
WASP family, member 3 |
| Synonyms |
Wave3 |
| MMRRC Submission |
044535-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6386 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
146321795-146410425 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 146390227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 124
(I124F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016143
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016143]
|
| AlphaFold |
Q8VHI6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000016143
AA Change: I124F
PolyPhen 2
Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000016143
Gene: ENSMUSG00000029636
AA Change: I124F
| 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 |
|
| Meta Mutation Damage Score |
0.0691 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.6%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak6 |
TGACGA |
TGA |
13: 100,792,311 (GRCm39) |
|
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,761,865 (GRCm39) |
N1620K |
possibly damaging |
Het |
| Atf6b |
T |
C |
17: 34,870,825 (GRCm39) |
S396P |
probably damaging |
Het |
| Cc2d1a |
A |
G |
8: 84,865,166 (GRCm39) |
M469T |
probably damaging |
Het |
| Ceacam3 |
A |
G |
7: 16,892,144 (GRCm39) |
N296D |
probably benign |
Het |
| Cep57l1 |
A |
T |
10: 41,619,128 (GRCm39) |
S80T |
probably damaging |
Het |
| Clip4 |
C |
A |
17: 72,141,189 (GRCm39) |
Y514* |
probably null |
Het |
| Cop1 |
T |
C |
1: 159,116,601 (GRCm39) |
I125T |
probably damaging |
Het |
| Cstf1 |
T |
C |
2: 172,219,816 (GRCm39) |
V309A |
probably damaging |
Het |
| Cyp4a29 |
T |
G |
4: 115,104,272 (GRCm39) |
|
probably null |
Het |
| F830045P16Rik |
G |
A |
2: 129,314,738 (GRCm39) |
H180Y |
probably damaging |
Het |
| Foxp4 |
T |
C |
17: 48,189,387 (GRCm39) |
K237E |
unknown |
Het |
| Fstl5 |
A |
T |
3: 76,229,373 (GRCm39) |
H58L |
probably benign |
Het |
| Gje1 |
A |
G |
10: 14,592,365 (GRCm39) |
F139S |
probably damaging |
Het |
| Gpatch1 |
T |
C |
7: 34,991,265 (GRCm39) |
D593G |
probably damaging |
Het |
| Inpp5d |
T |
A |
1: 87,627,397 (GRCm39) |
L566Q |
probably damaging |
Het |
| Mtch2 |
A |
G |
2: 90,679,739 (GRCm39) |
T38A |
probably benign |
Het |
| Mvb12b |
A |
T |
2: 33,717,754 (GRCm39) |
I129N |
probably damaging |
Het |
| Npffr2 |
T |
C |
5: 89,730,556 (GRCm39) |
V162A |
probably benign |
Het |
| Or4d10b |
A |
T |
19: 12,036,920 (GRCm39) |
N65K |
probably damaging |
Het |
| Or5p61 |
A |
T |
7: 107,758,409 (GRCm39) |
Y224N |
probably damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,621,244 (GRCm39) |
R805C |
probably damaging |
Het |
| Ppp4r4 |
T |
C |
12: 103,559,364 (GRCm39) |
L406P |
probably damaging |
Het |
| Prl3d2 |
A |
G |
13: 27,311,286 (GRCm39) |
D186G |
probably damaging |
Het |
| Rfc5 |
T |
C |
5: 117,523,463 (GRCm39) |
T112A |
probably benign |
Het |
| Rnf148 |
A |
G |
6: 23,654,483 (GRCm39) |
L171P |
probably damaging |
Het |
| Rps24 |
G |
A |
14: 24,542,116 (GRCm39) |
G71S |
possibly damaging |
Het |
| Slco2a1 |
G |
A |
9: 102,954,187 (GRCm39) |
V453I |
probably benign |
Het |
| Spidr |
T |
C |
16: 15,786,424 (GRCm39) |
K440E |
probably benign |
Het |
| Syndig1 |
C |
A |
2: 149,741,496 (GRCm39) |
N27K |
probably damaging |
Het |
| Tmem62 |
C |
T |
2: 120,829,595 (GRCm39) |
T316I |
probably benign |
Het |
| Tpgs2 |
A |
T |
18: 25,272,081 (GRCm39) |
I258N |
possibly damaging |
Het |
| Vmn2r78 |
A |
T |
7: 86,571,545 (GRCm39) |
R452* |
probably null |
Het |
| Wbp11 |
T |
C |
6: 136,797,523 (GRCm39) |
T299A |
probably benign |
Het |
| Wdr25 |
T |
C |
12: 108,990,991 (GRCm39) |
S41P |
probably damaging |
Het |
| Zfp874b |
T |
C |
13: 67,622,962 (GRCm39) |
D116G |
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 |
|
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 |
|
|
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'- AGCCAGTGTTGAGTCATTCTGG -3'
(R):5'- ACTGGGTATGATACAGCAGTTACTG -3'
Sequencing Primer
(F):5'- CCAGTGTTGAGTCATTCTGGAAGATG -3'
(R):5'- GAGTGTTCTTTTTCAACCCATAGGAG -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation