Incidental Mutation 'R2762:Wasl'
| ID |
254088 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wasl
|
| Ensembl Gene |
ENSMUSG00000029684 |
| Gene Name |
WASP like actin nucleation promoting factor |
| Synonyms |
N-WASP, Wiskott-Aldrich syndrome-like (human), 2900021I12Rik, 3110031I02Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2762 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
24613804-24665008 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24619500 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 340
(Y340C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031695
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031695]
|
| AlphaFold |
Q91YD9 |
| PDB Structure |
Structure of a Longitudinal Actin Dimer Assembled by Tandem W Domains [X-RAY DIFFRACTION]
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000031695
AA Change: Y340C
|
| SMART Domains |
Protein: ENSMUSP00000031695
Gene: ENSMUSG00000029684
AA Change: Y340C
| Domain | Start | End | E-Value | Type |
|---|
|
WH1
|
31 |
135 |
5.14e-49 |
SMART |
|
low complexity region
|
183 |
197 |
N/A |
INTRINSIC |
|
PBD
|
200 |
236 |
1.28e-11 |
SMART |
|
low complexity region
|
273 |
388 |
N/A |
INTRINSIC |
|
WH2
|
401 |
418 |
3.71e-4 |
SMART |
|
WH2
|
429 |
446 |
1.43e-5 |
SMART |
|
low complexity region
|
482 |
501 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous mutants exhibit developmental retardation, fail to undergo turning, show abnormal differentiation of intra- and extra-embryonal mesoderm, and die around midgestation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak2 |
T |
A |
12: 112,748,984 (GRCm39) |
T288S |
probably damaging |
Het |
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Baiap3 |
A |
G |
17: 25,463,549 (GRCm39) |
L909P |
probably damaging |
Het |
| Bicd1 |
C |
T |
6: 149,421,901 (GRCm39) |
A874V |
probably damaging |
Het |
| Dusp3 |
T |
C |
11: 101,865,661 (GRCm39) |
T178A |
probably benign |
Het |
| En2 |
T |
C |
5: 28,375,419 (GRCm39) |
S321P |
probably damaging |
Het |
| Ext1 |
G |
A |
15: 53,208,323 (GRCm39) |
S146L |
probably benign |
Het |
| Gm9923 |
C |
A |
10: 72,145,460 (GRCm39) |
H104N |
probably benign |
Het |
| Igtp |
A |
G |
11: 58,096,891 (GRCm39) |
M21V |
possibly damaging |
Het |
| Irs2 |
T |
C |
8: 11,056,408 (GRCm39) |
S675G |
probably damaging |
Het |
| Klhl36 |
T |
A |
8: 120,596,713 (GRCm39) |
L138Q |
probably damaging |
Het |
| Kmt2d |
T |
C |
15: 98,749,936 (GRCm39) |
|
probably benign |
Het |
| Nox3 |
A |
G |
17: 3,746,433 (GRCm39) |
V35A |
probably benign |
Het |
| Osbpl1a |
T |
C |
18: 12,899,956 (GRCm39) |
D274G |
possibly damaging |
Het |
| Plec |
C |
T |
15: 76,056,486 (GRCm39) |
G4349S |
probably damaging |
Het |
| Ppip5k2 |
A |
C |
1: 97,645,234 (GRCm39) |
S1073R |
probably damaging |
Het |
| Prkcq |
A |
G |
2: 11,237,451 (GRCm39) |
K77E |
possibly damaging |
Het |
| Prss1 |
T |
C |
6: 41,440,215 (GRCm39) |
V184A |
possibly damaging |
Het |
| Rnf111 |
T |
A |
9: 70,383,327 (GRCm39) |
H202L |
possibly damaging |
Het |
| S100pbp |
G |
A |
4: 129,049,219 (GRCm39) |
R308* |
probably null |
Het |
| Sgcb |
A |
T |
5: 73,793,052 (GRCm39) |
|
probably null |
Het |
| Spam1 |
T |
C |
6: 24,796,642 (GRCm39) |
F198L |
possibly damaging |
Het |
| Tbc1d4 |
A |
C |
14: 101,731,797 (GRCm39) |
C472G |
probably damaging |
Het |
| Tonsl |
T |
C |
15: 76,514,820 (GRCm39) |
N1128S |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,628,447 (GRCm39) |
R14571Q |
probably damaging |
Het |
| Tubb4a |
T |
A |
17: 57,387,974 (GRCm39) |
T351S |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
|
| Other mutations in Wasl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02262:Wasl
|
APN |
6 |
24,619,186 (GRCm39) |
missense |
unknown |
|
|
IGL02550:Wasl
|
APN |
6 |
24,633,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:Wasl
|
UTSW |
6 |
24,633,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0211:Wasl
|
UTSW |
6 |
24,633,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2012:Wasl
|
UTSW |
6 |
24,624,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2103:Wasl
|
UTSW |
6 |
24,618,377 (GRCm39) |
missense |
unknown |
|
|
R4629:Wasl
|
UTSW |
6 |
24,637,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4726:Wasl
|
UTSW |
6 |
24,633,110 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6001:Wasl
|
UTSW |
6 |
24,619,573 (GRCm39) |
missense |
unknown |
|
|
R7109:Wasl
|
UTSW |
6 |
24,633,186 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7336:Wasl
|
UTSW |
6 |
24,619,686 (GRCm39) |
missense |
unknown |
|
|
R7539:Wasl
|
UTSW |
6 |
24,619,197 (GRCm39) |
missense |
unknown |
|
|
R7849:Wasl
|
UTSW |
6 |
24,633,922 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7860:Wasl
|
UTSW |
6 |
24,619,396 (GRCm39) |
missense |
unknown |
|
|
R8016:Wasl
|
UTSW |
6 |
24,634,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8732:Wasl
|
UTSW |
6 |
24,619,209 (GRCm39) |
missense |
unknown |
|
|
R9186:Wasl
|
UTSW |
6 |
24,664,615 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9748:Wasl
|
UTSW |
6 |
24,619,533 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTTTCCTGAAGGAGCTGGA -3'
(R):5'- CTCTTATTTCAGCACCACCACCA -3'
Sequencing Primer
(F):5'- AGCTGGAACTTGATGGTCACC -3'
(R):5'- CACCTCCACCCTCGAGAG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation