Incidental Mutation 'R9231:Washc2'
| ID |
700238 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Washc2
|
| Ensembl Gene |
ENSMUSG00000024104 |
| Gene Name |
WASH complex subunit 2 |
| Synonyms |
C530005J20Rik, D6Wsu116e, Fam21 |
| MMRRC Submission |
068985-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9231 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
116184988-116239632 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 116235899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1123
(D1123E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036759]
[ENSMUST00000204283]
[ENSMUST00000204476]
|
| AlphaFold |
Q6PGL7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036759
AA Change: D1123E
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000038983
Gene: ENSMUSG00000024104
AA Change: D1123E
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
95 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
196 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
238 |
N/A |
INTRINSIC |
|
low complexity region
|
262 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
443 |
455 |
N/A |
INTRINSIC |
|
low complexity region
|
531 |
561 |
N/A |
INTRINSIC |
|
low complexity region
|
660 |
668 |
N/A |
INTRINSIC |
|
low complexity region
|
801 |
810 |
N/A |
INTRINSIC |
|
Pfam:CAP-ZIP_m
|
939 |
1074 |
4.3e-58 |
PFAM |
|
low complexity region
|
1268 |
1282 |
N/A |
INTRINSIC |
|
low complexity region
|
1297 |
1317 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204283
AA Change: D1037E
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000144703
Gene: ENSMUSG00000024104
AA Change: D1037E
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
9 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
130 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
176 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
357 |
369 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
475 |
N/A |
INTRINSIC |
|
low complexity region
|
574 |
582 |
N/A |
INTRINSIC |
|
low complexity region
|
715 |
724 |
N/A |
INTRINSIC |
|
Pfam:CAP-ZIP_m
|
853 |
988 |
2.8e-55 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204476
|
| SMART Domains |
Protein: ENSMUSP00000144982
Gene: ENSMUSG00000024104
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
95 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
196 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
216 |
238 |
N/A |
INTRINSIC |
|
low complexity region
|
262 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
443 |
455 |
N/A |
INTRINSIC |
|
low complexity region
|
531 |
561 |
N/A |
INTRINSIC |
|
low complexity region
|
660 |
668 |
N/A |
INTRINSIC |
|
low complexity region
|
801 |
810 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1609 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
| Validation Efficiency |
98% (60/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,349,153 (GRCm39) |
Q1073R |
probably benign |
Het |
| Akirin2 |
A |
G |
4: 34,551,072 (GRCm39) |
T10A |
possibly damaging |
Het |
| Ankrd13a |
T |
A |
5: 114,942,295 (GRCm39) |
I526N |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,429,234 (GRCm39) |
V876A |
possibly damaging |
Het |
| Aqp8 |
T |
A |
7: 123,061,813 (GRCm39) |
M11K |
probably benign |
Het |
| Catsper3 |
T |
C |
13: 55,946,705 (GRCm39) |
I134T |
possibly damaging |
Het |
| Cdk9 |
G |
T |
2: 32,598,006 (GRCm39) |
T350N |
probably benign |
Het |
| Ckmt2 |
G |
T |
13: 92,011,311 (GRCm39) |
H100N |
probably damaging |
Het |
| Cnnm4 |
A |
T |
1: 36,511,258 (GRCm39) |
D162V |
probably benign |
Het |
| Cnppd1 |
T |
C |
1: 75,116,261 (GRCm39) |
H108R |
possibly damaging |
Het |
| Col17a1 |
G |
A |
19: 47,667,861 (GRCm39) |
R139* |
probably null |
Het |
| Cyp2c65 |
C |
T |
19: 39,060,661 (GRCm39) |
P174S |
possibly damaging |
Het |
| Dync2li1 |
A |
G |
17: 84,935,819 (GRCm39) |
S39G |
probably null |
Het |
| Ecpas |
A |
G |
4: 58,875,533 (GRCm39) |
Y144H |
probably damaging |
Het |
| Eif2ak4 |
A |
G |
2: 118,271,662 (GRCm39) |
D882G |
probably benign |
Het |
| Emp1 |
C |
T |
6: 135,354,276 (GRCm39) |
T23I |
probably damaging |
Het |
| Epha8 |
T |
A |
4: 136,673,226 (GRCm39) |
D186V |
probably damaging |
Het |
| Fam169a |
T |
G |
13: 97,254,967 (GRCm39) |
D394E |
probably benign |
Het |
| Fam20b |
T |
C |
1: 156,509,084 (GRCm39) |
D376G |
probably benign |
Het |
| Fgfbp3 |
C |
T |
19: 36,896,193 (GRCm39) |
A142T |
possibly damaging |
Het |
| Flg2 |
C |
T |
3: 93,109,508 (GRCm39) |
S512L |
unknown |
Het |
| Fras1 |
T |
A |
5: 96,692,904 (GRCm39) |
C188S |
probably damaging |
Het |
| Galr2 |
T |
C |
11: 116,174,335 (GRCm39) |
C322R |
probably benign |
Het |
| Gbe1 |
T |
A |
16: 70,284,989 (GRCm39) |
M437K |
possibly damaging |
Het |
| Glt1d1 |
T |
A |
5: 127,754,341 (GRCm39) |
L181Q |
probably damaging |
Het |
| Gpr180 |
G |
A |
14: 118,395,455 (GRCm39) |
V296I |
probably damaging |
Het |
| Gucy1a1 |
C |
T |
3: 82,013,308 (GRCm39) |
E445K |
probably damaging |
Het |
| H2-T24 |
T |
C |
17: 36,331,363 (GRCm39) |
D14G |
possibly damaging |
Het |
| Igsf10 |
G |
A |
3: 59,243,843 (GRCm39) |
R164W |
probably damaging |
Het |
| Ing5 |
T |
G |
1: 93,739,505 (GRCm39) |
D37E |
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,801,074 (GRCm39) |
T1051A |
probably benign |
Het |
| Kif1b |
A |
T |
4: 149,275,652 (GRCm39) |
S1420T |
possibly damaging |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Kmt2a |
A |
G |
9: 44,759,912 (GRCm39) |
F646L |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,382,268 (GRCm39) |
D3731G |
probably benign |
Het |
| Mif |
T |
A |
10: 75,695,370 (GRCm39) |
I97F |
probably damaging |
Het |
| Mpp4 |
A |
T |
1: 59,163,833 (GRCm39) |
V507D |
probably damaging |
Het |
| Mrpl1 |
C |
A |
5: 96,361,719 (GRCm39) |
N35K |
probably benign |
Het |
| Naf1 |
CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA |
CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA |
8: 67,313,146 (GRCm39) |
|
probably benign |
Het |
| Nat8f6 |
A |
G |
6: 85,785,630 (GRCm39) |
V173A |
probably damaging |
Het |
| Ninl |
C |
T |
2: 150,792,129 (GRCm39) |
R798Q |
probably benign |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Or10a49 |
T |
C |
7: 108,467,840 (GRCm39) |
I174V |
possibly damaging |
Het |
| Or1af1 |
A |
T |
2: 37,109,989 (GRCm39) |
M163L |
possibly damaging |
Het |
| Paqr8 |
A |
G |
1: 21,005,875 (GRCm39) |
H343R |
probably benign |
Het |
| Parp14 |
A |
G |
16: 35,661,583 (GRCm39) |
V1455A |
probably damaging |
Het |
| Parp3 |
A |
T |
9: 106,350,891 (GRCm39) |
S334T |
probably benign |
Het |
| Pcbp2 |
T |
G |
15: 102,394,477 (GRCm39) |
|
probably null |
Het |
| Perm1 |
A |
T |
4: 156,302,234 (GRCm39) |
E259D |
probably damaging |
Het |
| Plce1 |
A |
T |
19: 38,705,040 (GRCm39) |
N815I |
probably benign |
Het |
| Plxnb1 |
A |
T |
9: 108,934,286 (GRCm39) |
D838V |
possibly damaging |
Het |
| Prdm12 |
A |
G |
2: 31,530,265 (GRCm39) |
D52G |
probably benign |
Het |
| Rac2 |
T |
C |
15: 78,450,223 (GRCm39) |
N39S |
probably damaging |
Het |
| Smchd1 |
A |
T |
17: 71,672,084 (GRCm39) |
C1657S |
probably benign |
Het |
| Sugct |
T |
A |
13: 17,627,071 (GRCm39) |
T261S |
probably damaging |
Het |
| Tbc1d10a |
T |
C |
11: 4,164,885 (GRCm39) |
L446P |
probably damaging |
Het |
| Tcp1 |
T |
A |
17: 13,136,761 (GRCm39) |
D47E |
probably damaging |
Het |
| Tenm3 |
T |
A |
8: 48,689,231 (GRCm39) |
T2119S |
probably damaging |
Het |
| Tent5a |
T |
G |
9: 85,208,388 (GRCm39) |
D145A |
possibly damaging |
Het |
| Tmem132b |
T |
C |
5: 125,860,531 (GRCm39) |
M592T |
probably damaging |
Het |
| Trim28 |
G |
A |
7: 12,763,490 (GRCm39) |
A544T |
probably benign |
Het |
| Vinac1 |
A |
T |
2: 128,879,340 (GRCm39) |
I862N |
unknown |
Het |
| Wee2 |
A |
G |
6: 40,440,089 (GRCm39) |
I412M |
probably damaging |
Het |
|
| Other mutations in Washc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00422:Washc2
|
APN |
6 |
116,233,637 (GRCm39) |
missense |
probably benign |
|
|
IGL00552:Washc2
|
APN |
6 |
116,233,785 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01397:Washc2
|
APN |
6 |
116,224,959 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL01668:Washc2
|
APN |
6 |
116,239,299 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01982:Washc2
|
APN |
6 |
116,213,150 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02022:Washc2
|
APN |
6 |
116,236,126 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02150:Washc2
|
APN |
6 |
116,208,593 (GRCm39) |
splice site |
probably benign |
|
|
IGL02224:Washc2
|
APN |
6 |
116,197,530 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02553:Washc2
|
APN |
6 |
116,218,571 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02555:Washc2
|
APN |
6 |
116,186,061 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02612:Washc2
|
APN |
6 |
116,197,577 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02622:Washc2
|
APN |
6 |
116,190,979 (GRCm39) |
splice site |
probably benign |
|
|
IGL02900:Washc2
|
APN |
6 |
116,204,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03263:Washc2
|
APN |
6 |
116,215,084 (GRCm39) |
splice site |
probably benign |
|
|
fading
|
UTSW |
6 |
116,231,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0218:Washc2
|
UTSW |
6 |
116,225,007 (GRCm39) |
nonsense |
probably null |
|
|
R0285:Washc2
|
UTSW |
6 |
116,198,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0346:Washc2
|
UTSW |
6 |
116,197,484 (GRCm39) |
splice site |
probably benign |
|
|
R0677:Washc2
|
UTSW |
6 |
116,221,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0919:Washc2
|
UTSW |
6 |
116,185,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1144:Washc2
|
UTSW |
6 |
116,201,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1666:Washc2
|
UTSW |
6 |
116,200,215 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1687:Washc2
|
UTSW |
6 |
116,233,673 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1702:Washc2
|
UTSW |
6 |
116,206,267 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1740:Washc2
|
UTSW |
6 |
116,208,593 (GRCm39) |
splice site |
probably benign |
|
|
R1952:Washc2
|
UTSW |
6 |
116,232,052 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1964:Washc2
|
UTSW |
6 |
116,185,948 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2039:Washc2
|
UTSW |
6 |
116,201,400 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3084:Washc2
|
UTSW |
6 |
116,204,454 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3552:Washc2
|
UTSW |
6 |
116,197,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3790:Washc2
|
UTSW |
6 |
116,224,933 (GRCm39) |
splice site |
probably benign |
|
|
R3949:Washc2
|
UTSW |
6 |
116,185,165 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4089:Washc2
|
UTSW |
6 |
116,233,253 (GRCm39) |
splice site |
probably null |
|
|
R4133:Washc2
|
UTSW |
6 |
116,235,891 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4258:Washc2
|
UTSW |
6 |
116,185,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4510:Washc2
|
UTSW |
6 |
116,197,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4511:Washc2
|
UTSW |
6 |
116,197,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4613:Washc2
|
UTSW |
6 |
116,206,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4614:Washc2
|
UTSW |
6 |
116,215,135 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4794:Washc2
|
UTSW |
6 |
116,235,610 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5224:Washc2
|
UTSW |
6 |
116,185,965 (GRCm39) |
makesense |
probably null |
|
|
R5367:Washc2
|
UTSW |
6 |
116,236,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5602:Washc2
|
UTSW |
6 |
116,225,056 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6013:Washc2
|
UTSW |
6 |
116,231,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6075:Washc2
|
UTSW |
6 |
116,204,327 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6086:Washc2
|
UTSW |
6 |
116,233,177 (GRCm39) |
splice site |
probably null |
|
|
R6344:Washc2
|
UTSW |
6 |
116,235,719 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6593:Washc2
|
UTSW |
6 |
116,236,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7048:Washc2
|
UTSW |
6 |
116,197,544 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7062:Washc2
|
UTSW |
6 |
116,196,949 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7241:Washc2
|
UTSW |
6 |
116,185,168 (GRCm39) |
start codon destroyed |
probably null |
0.01 |
|
R7283:Washc2
|
UTSW |
6 |
116,204,379 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7681:Washc2
|
UTSW |
6 |
116,237,618 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7810:Washc2
|
UTSW |
6 |
116,236,020 (GRCm39) |
missense |
probably benign |
|
|
R7908:Washc2
|
UTSW |
6 |
116,225,106 (GRCm39) |
missense |
probably benign |
|
|
R7923:Washc2
|
UTSW |
6 |
116,203,385 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8067:Washc2
|
UTSW |
6 |
116,201,464 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8224:Washc2
|
UTSW |
6 |
116,218,457 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8697:Washc2
|
UTSW |
6 |
116,206,220 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8841:Washc2
|
UTSW |
6 |
116,235,916 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8920:Washc2
|
UTSW |
6 |
116,221,615 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8971:Washc2
|
UTSW |
6 |
116,231,399 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9010:Washc2
|
UTSW |
6 |
116,198,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9257:Washc2
|
UTSW |
6 |
116,193,069 (GRCm39) |
nonsense |
probably null |
|
|
R9361:Washc2
|
UTSW |
6 |
116,239,433 (GRCm39) |
makesense |
probably null |
|
|
R9571:Washc2
|
UTSW |
6 |
116,237,631 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9764:Washc2
|
UTSW |
6 |
116,186,048 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
X0018:Washc2
|
UTSW |
6 |
116,185,219 (GRCm39) |
missense |
probably null |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTTGAGCAGTAGTCCTGTCC -3'
(R):5'- TCCTCATCTTCAAGGAGAGGG -3'
Sequencing Primer
(F):5'- GTAGTCCTGTCCTACCAAACGG -3'
(R):5'- TGCTCTCGGCTTGACAGACTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation