Incidental Mutation 'R5178:Wasf1'
| ID |
399490 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wasf1
|
| Ensembl Gene |
ENSMUSG00000019831 |
| Gene Name |
WASP family, member 1 |
| Synonyms |
Scar, WAVE, WAVE-1 |
| MMRRC Submission |
042758-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.520)
|
| Stock # |
R5178 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
40759476-40814565 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 40813672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 518
(R518H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019975]
[ENSMUST00000105509]
|
| AlphaFold |
Q8R5H6 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000019975
AA Change: R518H
|
| SMART Domains |
Protein: ENSMUSP00000019975
Gene: ENSMUSG00000019831
AA Change: R518H
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4N78|D
|
1 |
320 |
N/A |
PDB |
|
low complexity region
|
321 |
401 |
N/A |
INTRINSIC |
|
low complexity region
|
423 |
435 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
482 |
N/A |
INTRINSIC |
|
WH2
|
497 |
514 |
4.32e-5 |
SMART |
|
low complexity region
|
544 |
556 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000105509
AA Change: R518H
|
| SMART Domains |
Protein: ENSMUSP00000101148
Gene: ENSMUSG00000019831
AA Change: R518H
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4N78|D
|
1 |
320 |
N/A |
PDB |
|
low complexity region
|
321 |
401 |
N/A |
INTRINSIC |
|
low complexity region
|
423 |
435 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
482 |
N/A |
INTRINSIC |
|
WH2
|
497 |
514 |
4.32e-5 |
SMART |
|
low complexity region
|
544 |
556 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, a member of the Wiskott-Aldrich syndrome protein (WASP)-family, plays a critical role downstream of Rac, a Rho-family small GTPase, in regulating the actin cytoskeleton required for membrane ruffling. It has been shown to associate with an actin nucleation core Arp2/3 complex while enhancing actin polymerization in vitro. Wiskott-Aldrich syndrome is a disease of the immune system, likely due to defects in regulation of actin cytoskeleton. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutation of this gene has been associated with both morphological and functional defects of the central nervous system. Targeted mutagenesis has resulted in mice that display sensorimotor and cognitive defects similar to those exhibited by patients with 3p-syndrome mental retardation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abt1 |
G |
T |
13: 23,606,819 (GRCm39) |
A94E |
possibly damaging |
Het |
| Carmil2 |
G |
T |
8: 106,423,521 (GRCm39) |
G1207V |
probably damaging |
Het |
| Cndp2 |
A |
T |
18: 84,693,153 (GRCm39) |
N202K |
probably benign |
Het |
| Cyp2c66 |
A |
G |
19: 39,159,473 (GRCm39) |
Y308C |
probably damaging |
Het |
| Dhx29 |
T |
G |
13: 113,069,134 (GRCm39) |
S155A |
possibly damaging |
Het |
| Dnah7b |
T |
G |
1: 46,397,376 (GRCm39) |
F3936V |
possibly damaging |
Het |
| Dsg1b |
G |
A |
18: 20,530,560 (GRCm39) |
G405E |
probably damaging |
Het |
| Exo5 |
A |
T |
4: 120,778,734 (GRCm39) |
|
probably null |
Het |
| Fam171b |
T |
C |
2: 83,710,331 (GRCm39) |
F668L |
probably damaging |
Het |
| Gemin5 |
A |
T |
11: 58,037,344 (GRCm39) |
S624T |
probably benign |
Het |
| Gpc2 |
C |
A |
5: 138,273,867 (GRCm39) |
V444L |
possibly damaging |
Het |
| Hephl1 |
T |
A |
9: 14,997,468 (GRCm39) |
K399N |
probably damaging |
Het |
| Lair1 |
G |
A |
7: 4,013,488 (GRCm39) |
T82I |
possibly damaging |
Het |
| Lhx1 |
G |
T |
11: 84,411,214 (GRCm39) |
A155E |
possibly damaging |
Het |
| Maip1 |
G |
A |
1: 57,454,849 (GRCm39) |
D278N |
probably benign |
Het |
| Mcm4 |
T |
A |
16: 15,453,167 (GRCm39) |
D174V |
probably benign |
Het |
| Mcph1 |
T |
A |
8: 18,657,342 (GRCm39) |
D60E |
probably damaging |
Het |
| Mmp17 |
T |
A |
5: 129,672,122 (GRCm39) |
W132R |
probably damaging |
Het |
| Or4p7 |
C |
T |
2: 88,221,819 (GRCm39) |
T76I |
possibly damaging |
Het |
| Or7e174 |
T |
A |
9: 20,012,488 (GRCm39) |
C144* |
probably null |
Het |
| Pds5a |
T |
C |
5: 65,821,218 (GRCm39) |
T169A |
probably damaging |
Het |
| Pfkm |
A |
G |
15: 98,029,396 (GRCm39) |
N697D |
probably benign |
Het |
| Pira1 |
T |
A |
7: 3,742,396 (GRCm39) |
K44* |
probably null |
Het |
| Ppwd1 |
A |
T |
13: 104,356,943 (GRCm39) |
S191T |
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,312,607 (GRCm39) |
M1109K |
probably benign |
Het |
| Robo4 |
T |
C |
9: 37,319,256 (GRCm39) |
W535R |
probably damaging |
Het |
| Rsf1 |
A |
G |
7: 97,311,079 (GRCm39) |
D603G |
possibly damaging |
Het |
| Slc22a26 |
T |
C |
19: 7,767,540 (GRCm39) |
T289A |
possibly damaging |
Het |
| Sp2 |
A |
G |
11: 96,846,664 (GRCm39) |
F554L |
probably benign |
Het |
| Sp4 |
A |
G |
12: 118,225,624 (GRCm39) |
V580A |
possibly damaging |
Het |
| Tbc1d19 |
T |
A |
5: 54,046,667 (GRCm39) |
S413T |
possibly damaging |
Het |
| Tecta |
T |
C |
9: 42,286,481 (GRCm39) |
D725G |
probably damaging |
Het |
| Tmem200a |
T |
A |
10: 25,870,277 (GRCm39) |
Q4H |
probably benign |
Het |
| Tpx2 |
T |
A |
2: 152,717,469 (GRCm39) |
I122N |
probably benign |
Het |
| Trgc4 |
A |
G |
13: 19,528,932 (GRCm39) |
|
probably benign |
Het |
| Ube4b |
T |
C |
4: 149,427,449 (GRCm39) |
M900V |
probably damaging |
Het |
| Vmn1r87 |
G |
T |
7: 12,865,792 (GRCm39) |
A165E |
possibly damaging |
Het |
| Vmn2r95 |
A |
G |
17: 18,660,337 (GRCm39) |
T250A |
probably benign |
Het |
| Zfhx2 |
A |
T |
14: 55,312,232 (GRCm39) |
F154Y |
probably benign |
Het |
| Zfp729a |
A |
G |
13: 67,785,764 (GRCm39) |
|
probably null |
Het |
| Zfp976 |
A |
G |
7: 42,261,925 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Wasf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00502:Wasf1
|
APN |
10 |
40,796,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01978:Wasf1
|
APN |
10 |
40,812,197 (GRCm39) |
missense |
unknown |
|
|
IGL02265:Wasf1
|
APN |
10 |
40,812,437 (GRCm39) |
missense |
unknown |
|
|
IGL02565:Wasf1
|
APN |
10 |
40,812,128 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02741:Wasf1
|
APN |
10 |
40,806,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03037:Wasf1
|
APN |
10 |
40,806,654 (GRCm39) |
missense |
probably benign |
0.42 |
|
potatoes
|
UTSW |
10 |
40,802,616 (GRCm39) |
critical splice donor site |
probably null |
|
|
K3955:Wasf1
|
UTSW |
10 |
40,812,191 (GRCm39) |
missense |
unknown |
|
|
R0652:Wasf1
|
UTSW |
10 |
40,807,902 (GRCm39) |
splice site |
probably null |
|
|
R1276:Wasf1
|
UTSW |
10 |
40,812,522 (GRCm39) |
missense |
unknown |
|
|
R1774:Wasf1
|
UTSW |
10 |
40,810,475 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1813:Wasf1
|
UTSW |
10 |
40,802,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3607:Wasf1
|
UTSW |
10 |
40,812,380 (GRCm39) |
missense |
unknown |
|
|
R4418:Wasf1
|
UTSW |
10 |
40,812,578 (GRCm39) |
missense |
unknown |
|
|
R4952:Wasf1
|
UTSW |
10 |
40,812,186 (GRCm39) |
missense |
unknown |
|
|
R4997:Wasf1
|
UTSW |
10 |
40,810,600 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5718:Wasf1
|
UTSW |
10 |
40,802,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5789:Wasf1
|
UTSW |
10 |
40,802,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5791:Wasf1
|
UTSW |
10 |
40,802,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5839:Wasf1
|
UTSW |
10 |
40,812,315 (GRCm39) |
missense |
unknown |
|
|
R6247:Wasf1
|
UTSW |
10 |
40,813,741 (GRCm39) |
missense |
unknown |
|
|
R6688:Wasf1
|
UTSW |
10 |
40,802,616 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6889:Wasf1
|
UTSW |
10 |
40,796,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6977:Wasf1
|
UTSW |
10 |
40,802,581 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7023:Wasf1
|
UTSW |
10 |
40,812,471 (GRCm39) |
missense |
unknown |
|
|
R7136:Wasf1
|
UTSW |
10 |
40,802,587 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7224:Wasf1
|
UTSW |
10 |
40,802,546 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8558:Wasf1
|
UTSW |
10 |
40,806,648 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9023:Wasf1
|
UTSW |
10 |
40,810,571 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9731:Wasf1
|
UTSW |
10 |
40,806,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9800:Wasf1
|
UTSW |
10 |
40,812,693 (GRCm39) |
missense |
unknown |
|
|
X0025:Wasf1
|
UTSW |
10 |
40,812,693 (GRCm39) |
missense |
unknown |
|
|
X0067:Wasf1
|
UTSW |
10 |
40,813,653 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATGGTCATGTAACTTAACAAGGC -3'
(R):5'- GGACATGTGCATTCAGCCTTG -3'
Sequencing Primer
(F):5'- GTCATGTAACTTAACAAGGCAGATGC -3'
(R):5'- TGCATTCAGCCTTGCAATACAGAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation