Incidental Mutation 'R4538:Washc3'
| ID |
333417 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Washc3
|
| Ensembl Gene |
ENSMUSG00000020056 |
| Gene Name |
WASH complex subunit 3 |
| Synonyms |
Ccdc53, 2900091E11Rik, 5730495F03Rik |
| MMRRC Submission |
041775-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4538 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
88036955-88082020 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88051871 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 87
(S87T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020248
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020248]
[ENSMUST00000171151]
[ENSMUST00000182183]
[ENSMUST00000182299]
[ENSMUST00000182619]
|
| AlphaFold |
Q9CR27 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020248
AA Change: S87T
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000020248
Gene: ENSMUSG00000020056
AA Change: S87T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2360
|
30 |
167 |
1.8e-51 |
PFAM |
|
low complexity region
|
177 |
194 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171151
AA Change: S87T
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000132246
Gene: ENSMUSG00000020056
AA Change: S87T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2360
|
30 |
167 |
3.5e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182183
AA Change: S87T
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000138540
Gene: ENSMUSG00000020056
AA Change: S87T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2360
|
30 |
167 |
5.5e-52 |
PFAM |
|
low complexity region
|
176 |
193 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182299
|
| SMART Domains |
Protein: ENSMUSP00000138261
Gene: ENSMUSG00000020056
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2360
|
30 |
50 |
2.1e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182351
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182359
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182619
AA Change: S80T
PolyPhen 2
Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000138310
Gene: ENSMUSG00000020056
AA Change: S80T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2360
|
23 |
159 |
7.3e-41 |
PFAM |
|
| Meta Mutation Damage Score |
0.1051 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
97% (36/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110018I06Rik |
G |
A |
12: 107,455,096 (GRCm39) |
V61M |
unknown |
Het |
| Abcc9 |
A |
G |
6: 142,560,138 (GRCm39) |
|
probably null |
Het |
| Adcy10 |
A |
T |
1: 165,340,696 (GRCm39) |
M234L |
probably benign |
Het |
| B4galt3 |
T |
C |
1: 171,100,280 (GRCm39) |
F150S |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Chd4 |
A |
T |
6: 125,097,649 (GRCm39) |
D1377V |
probably damaging |
Het |
| Cope |
T |
A |
8: 70,759,157 (GRCm39) |
I16N |
probably damaging |
Het |
| Cpd |
A |
T |
11: 76,681,825 (GRCm39) |
N1140K |
probably benign |
Het |
| Cyp7b1 |
A |
T |
3: 18,151,745 (GRCm39) |
I156N |
possibly damaging |
Het |
| Depdc5 |
T |
C |
5: 33,141,290 (GRCm39) |
Y1397H |
probably damaging |
Het |
| Dnajc13 |
CT |
C |
9: 104,064,004 (GRCm39) |
|
probably benign |
Het |
| Ebf1 |
T |
A |
11: 44,798,822 (GRCm39) |
D289E |
probably benign |
Het |
| Egflam |
T |
C |
15: 7,281,918 (GRCm39) |
Y406C |
probably damaging |
Het |
| Hfm1 |
T |
C |
5: 107,022,756 (GRCm39) |
T949A |
possibly damaging |
Het |
| Ifih1 |
A |
G |
2: 62,447,756 (GRCm39) |
V316A |
probably damaging |
Het |
| Kif1a |
C |
T |
1: 93,004,769 (GRCm39) |
V142M |
probably damaging |
Het |
| Kng2 |
C |
A |
16: 22,806,813 (GRCm39) |
R462L |
probably benign |
Het |
| Lrrn1 |
T |
A |
6: 107,545,598 (GRCm39) |
N465K |
probably benign |
Het |
| Mdn1 |
T |
A |
4: 32,722,334 (GRCm39) |
L2372Q |
probably damaging |
Het |
| Men1 |
T |
C |
19: 6,386,784 (GRCm39) |
F159L |
possibly damaging |
Het |
| Mul1 |
T |
C |
4: 138,165,706 (GRCm39) |
|
probably benign |
Het |
| Or2l13b |
A |
T |
16: 19,349,381 (GRCm39) |
C96* |
probably null |
Het |
| Pramel6 |
T |
G |
2: 87,338,903 (GRCm39) |
H34Q |
probably benign |
Het |
| Ripk4 |
A |
T |
16: 97,544,352 (GRCm39) |
L702* |
probably null |
Het |
| Slc5a4a |
C |
T |
10: 76,013,929 (GRCm39) |
R379* |
probably null |
Het |
| Slc9a3 |
T |
C |
13: 74,309,851 (GRCm39) |
V513A |
possibly damaging |
Het |
| Strada |
A |
C |
11: 106,058,651 (GRCm39) |
M245R |
probably damaging |
Het |
| Sycp1 |
A |
T |
3: 102,748,278 (GRCm39) |
I838K |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trbv17 |
A |
C |
6: 41,140,286 (GRCm39) |
N47T |
probably benign |
Het |
|
| Other mutations in Washc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02103:Washc3
|
APN |
10 |
88,037,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3780:Washc3
|
UTSW |
10 |
88,055,122 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4135:Washc3
|
UTSW |
10 |
88,055,142 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4489:Washc3
|
UTSW |
10 |
88,051,893 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4763:Washc3
|
UTSW |
10 |
88,055,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4773:Washc3
|
UTSW |
10 |
88,055,124 (GRCm39) |
nonsense |
probably null |
|
|
R6572:Washc3
|
UTSW |
10 |
88,049,568 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6933:Washc3
|
UTSW |
10 |
88,037,714 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7064:Washc3
|
UTSW |
10 |
88,081,635 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7803:Washc3
|
UTSW |
10 |
88,051,937 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8120:Washc3
|
UTSW |
10 |
88,037,159 (GRCm39) |
splice site |
probably null |
|
|
R9055:Washc3
|
UTSW |
10 |
88,051,916 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9189:Washc3
|
UTSW |
10 |
88,051,916 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0065:Washc3
|
UTSW |
10 |
88,070,293 (GRCm39) |
missense |
probably benign |
0.24 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCGGCTGAATGATAATTTGTAAGG -3'
(R):5'- GCGTAAAAGCTGACTATACAGTG -3'
Sequencing Primer
(F):5'- CTCTTTCAAAGAACAGCGTTTTTCAC -3'
(R):5'- AGCTGACTATACAGTGACTCTTATC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation