Incidental Mutation 'R8016:Wasl'
ID |
617176 |
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 |
MMRRC Submission |
067456-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8016 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
24613804-24665008 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 24634594 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 103
(Y103N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031695
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031695]
[ENSMUST00000041737]
|
AlphaFold |
Q91YD9 |
PDB Structure |
Structure of a Longitudinal Actin Dimer Assembled by Tandem W Domains [X-RAY DIFFRACTION]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000031695
AA Change: Y103N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000031695 Gene: ENSMUSG00000029684 AA Change: Y103N
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 |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041737
AA Change: Y103N
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000043968 Gene: ENSMUSG00000029684 AA Change: Y103N
Domain | Start | End | E-Value | Type |
WH1
|
31 |
135 |
5.14e-49 |
SMART |
|
Meta Mutation Damage Score |
0.6407 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
98% (41/42) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
A |
17: 24,583,926 (GRCm39) |
M105K |
probably benign |
Het |
Acer2 |
T |
C |
4: 86,804,443 (GRCm39) |
F53L |
probably damaging |
Het |
Adam15 |
A |
G |
3: 89,252,668 (GRCm39) |
V307A |
probably benign |
Het |
Afmid |
A |
G |
11: 117,726,370 (GRCm39) |
I193V |
probably benign |
Het |
Ahdc1 |
C |
T |
4: 132,790,226 (GRCm39) |
T489M |
possibly damaging |
Het |
Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
Bag6 |
T |
A |
17: 35,357,733 (GRCm39) |
V133D |
unknown |
Het |
Btla |
T |
C |
16: 45,070,950 (GRCm39) |
V304A |
probably damaging |
Het |
Cacna1g |
A |
T |
11: 94,334,007 (GRCm39) |
I878N |
probably benign |
Het |
Ccnf |
A |
T |
17: 24,450,784 (GRCm39) |
I398N |
possibly damaging |
Het |
Clcnka |
A |
T |
4: 141,117,463 (GRCm39) |
S445T |
possibly damaging |
Het |
Col6a6 |
A |
G |
9: 105,644,727 (GRCm39) |
V1187A |
possibly damaging |
Het |
Col7a1 |
T |
C |
9: 108,787,712 (GRCm39) |
V664A |
unknown |
Het |
Crb2 |
C |
A |
2: 37,676,568 (GRCm39) |
A183E |
possibly damaging |
Het |
Cyp2j5 |
C |
T |
4: 96,546,951 (GRCm39) |
V188I |
probably damaging |
Het |
D430041D05Rik |
A |
T |
2: 104,022,864 (GRCm39) |
N1043K |
probably damaging |
Het |
Dnah14 |
G |
A |
1: 181,475,876 (GRCm39) |
R1376H |
probably benign |
Het |
Foxj1 |
A |
G |
11: 116,222,675 (GRCm39) |
F376S |
probably damaging |
Het |
Hsd17b11 |
A |
T |
5: 104,169,526 (GRCm39) |
I27N |
probably damaging |
Het |
Itih1 |
A |
G |
14: 30,657,251 (GRCm39) |
V528A |
probably damaging |
Het |
Ndor1 |
A |
G |
2: 25,139,329 (GRCm39) |
V283A |
probably benign |
Het |
Nup54 |
G |
A |
5: 92,582,176 (GRCm39) |
T45I |
unknown |
Het |
Or4c100 |
G |
A |
2: 88,356,517 (GRCm39) |
V197I |
probably damaging |
Het |
Or7g16 |
T |
C |
9: 18,727,588 (GRCm39) |
M1V |
probably null |
Het |
Pbld2 |
T |
C |
10: 62,883,744 (GRCm39) |
F70L |
probably damaging |
Het |
Pdzph1 |
A |
G |
17: 59,239,476 (GRCm39) |
S951P |
probably damaging |
Het |
Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
Prss1l |
A |
T |
6: 41,374,100 (GRCm39) |
Y234F |
probably damaging |
Het |
Rasgrp1 |
A |
T |
2: 117,118,314 (GRCm39) |
C558* |
probably null |
Het |
Slc12a6 |
A |
T |
2: 112,186,899 (GRCm39) |
H966L |
probably benign |
Het |
Snx14 |
A |
T |
9: 88,297,740 (GRCm39) |
V176D |
probably damaging |
Het |
St6galnac3 |
G |
T |
3: 152,911,129 (GRCm39) |
H277Q |
probably damaging |
Het |
Syde2 |
T |
A |
3: 145,707,727 (GRCm39) |
D822E |
possibly damaging |
Het |
Syne2 |
A |
T |
12: 75,989,681 (GRCm39) |
E1853D |
probably benign |
Het |
Tigd4 |
T |
C |
3: 84,501,971 (GRCm39) |
V296A |
possibly damaging |
Het |
Tmed4 |
A |
T |
11: 6,224,242 (GRCm39) |
|
probably benign |
Het |
Trmt6 |
A |
T |
2: 132,651,826 (GRCm39) |
I198N |
probably damaging |
Het |
Ubap2 |
A |
G |
4: 41,195,201 (GRCm39) |
S1117P |
possibly damaging |
Het |
Zfp628 |
A |
G |
7: 4,922,228 (GRCm39) |
D150G |
probably damaging |
Het |
Zfp936 |
T |
A |
7: 42,838,848 (GRCm39) |
V105D |
possibly damaging |
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 |
|
R2762:Wasl
|
UTSW |
6 |
24,619,500 (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 |
|
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'- GGTTCCTTACTTGGCAGAAAC -3'
(R):5'- ATGCTTGCTCTATTGAATGAGACC -3'
Sequencing Primer
(F):5'- TTAAATGCCTGACCCCAAGTTGG -3'
(R):5'- TTGAATGAGACCACTTATAAACAGG -3'
|
Posted On |
2020-01-23 |