Incidental Mutation 'R7283:Washc2'
| ID |
565792 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Washc2
|
| Ensembl Gene |
ENSMUSG00000024104 |
| Gene Name |
WASH complex subunit 2 |
| Synonyms |
C530005J20Rik, D6Wsu116e, Fam21 |
| MMRRC Submission |
045361-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7283 (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 116204379 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 429
(P429Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036759]
[ENSMUST00000203928]
[ENSMUST00000204283]
[ENSMUST00000204476]
|
| AlphaFold |
Q6PGL7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036759
AA Change: P429Q
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000038983
Gene: ENSMUSG00000024104
AA Change: P429Q
| 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 damaging
Transcript: ENSMUST00000203928
AA Change: P108Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204283
AA Change: P343Q
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144703
Gene: ENSMUSG00000024104
AA Change: P343Q
| 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 damaging
Transcript: ENSMUST00000204476
AA Change: P429Q
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144982
Gene: ENSMUSG00000024104
AA Change: P429Q
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (72/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833439L19Rik |
A |
G |
13: 54,700,504 (GRCm39) |
V278A |
probably benign |
Het |
| Abcc3 |
C |
T |
11: 94,247,873 (GRCm39) |
A1207T |
probably benign |
Het |
| Abce1 |
C |
A |
8: 80,411,885 (GRCm39) |
G592* |
probably null |
Het |
| Acad10 |
A |
C |
5: 121,787,538 (GRCm39) |
V137G |
possibly damaging |
Het |
| Adcy3 |
A |
G |
12: 4,253,563 (GRCm39) |
I672V |
not run |
Het |
| Adgrb1 |
A |
T |
15: 74,452,512 (GRCm39) |
Q1166L |
possibly damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,768,955 (GRCm39) |
N465K |
probably damaging |
Het |
| Avpr1b |
A |
G |
1: 131,537,469 (GRCm39) |
T418A |
probably benign |
Het |
| Azin1 |
G |
A |
15: 38,501,652 (GRCm39) |
T33I |
probably damaging |
Het |
| Bicra |
T |
C |
7: 15,706,425 (GRCm39) |
T1339A |
probably damaging |
Het |
| Bltp2 |
A |
G |
11: 78,165,654 (GRCm39) |
Q1346R |
probably damaging |
Het |
| Cacna1s |
A |
G |
1: 136,001,446 (GRCm39) |
Y299C |
probably damaging |
Het |
| Clip1 |
A |
C |
5: 123,751,857 (GRCm39) |
C641W |
|
Het |
| Clip3 |
T |
C |
7: 30,005,237 (GRCm39) |
S524P |
probably damaging |
Het |
| Cnpy4 |
A |
T |
5: 138,191,144 (GRCm39) |
H240L |
probably benign |
Het |
| Cyp2b19 |
T |
C |
7: 26,466,339 (GRCm39) |
Y381H |
probably damaging |
Het |
| Cyp3a13 |
T |
A |
5: 137,903,818 (GRCm39) |
N280I |
probably benign |
Het |
| Diaph3 |
A |
G |
14: 87,104,020 (GRCm39) |
F788S |
probably damaging |
Het |
| Drc7 |
A |
G |
8: 95,798,207 (GRCm39) |
N484S |
probably damaging |
Het |
| Erap1 |
G |
A |
13: 74,821,903 (GRCm39) |
|
probably null |
Het |
| Fat4 |
A |
T |
3: 38,943,842 (GRCm39) |
I912F |
probably damaging |
Het |
| Hsd3b3 |
T |
A |
3: 98,649,673 (GRCm39) |
K217* |
probably null |
Het |
| Igkv12-89 |
A |
G |
6: 68,812,061 (GRCm39) |
V36A |
probably damaging |
Het |
| Invs |
T |
A |
4: 48,392,526 (GRCm39) |
|
probably null |
Het |
| Ipo8 |
T |
A |
6: 148,725,979 (GRCm39) |
Y30F |
possibly damaging |
Het |
| Kctd14 |
T |
C |
7: 97,100,693 (GRCm39) |
M1T |
probably null |
Het |
| Klrb1c |
A |
T |
6: 128,761,220 (GRCm39) |
C136S |
probably benign |
Het |
| Morn2 |
A |
G |
17: 80,604,688 (GRCm39) |
E48G |
probably damaging |
Het |
| Myh1 |
A |
T |
11: 67,092,670 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nfxl1 |
A |
G |
5: 72,686,393 (GRCm39) |
S603P |
probably benign |
Het |
| Nlrc3 |
G |
A |
16: 3,765,741 (GRCm39) |
A351V |
probably benign |
Het |
| Nlrp4f |
G |
A |
13: 65,343,352 (GRCm39) |
R76* |
probably null |
Het |
| Or1e1f |
T |
C |
11: 73,855,634 (GRCm39) |
S67P |
probably damaging |
Het |
| Or52n1 |
G |
T |
7: 104,382,800 (GRCm39) |
T257K |
probably damaging |
Het |
| Or5h22 |
A |
T |
16: 58,894,555 (GRCm39) |
M296K |
probably benign |
Het |
| Or7e176 |
A |
C |
9: 20,171,555 (GRCm39) |
I140L |
probably damaging |
Het |
| Or8k41 |
A |
T |
2: 86,313,483 (GRCm39) |
I201N |
probably damaging |
Het |
| Papolg |
A |
G |
11: 23,817,394 (GRCm39) |
V601A |
not run |
Het |
| Pde4dip |
T |
C |
3: 97,666,198 (GRCm39) |
T349A |
probably benign |
Het |
| Pdlim5 |
T |
C |
3: 142,017,741 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
A |
G |
15: 44,366,676 (GRCm39) |
N718S |
probably benign |
Het |
| Plcxd3 |
A |
G |
15: 4,546,401 (GRCm39) |
H135R |
probably damaging |
Het |
| Plxna2 |
A |
T |
1: 194,327,191 (GRCm39) |
Y375F |
probably damaging |
Het |
| Prkca |
C |
T |
11: 108,231,471 (GRCm39) |
|
probably null |
Het |
| Prkdc |
A |
G |
16: 15,535,628 (GRCm39) |
S1663G |
probably benign |
Het |
| Ptbp3 |
T |
C |
4: 59,514,384 (GRCm39) |
T80A |
probably benign |
Het |
| Ptpn4 |
C |
T |
1: 119,610,261 (GRCm39) |
V696I |
possibly damaging |
Het |
| Pygl |
A |
T |
12: 70,263,342 (GRCm39) |
W175R |
possibly damaging |
Het |
| Rftn1 |
A |
G |
17: 50,354,469 (GRCm39) |
Y298H |
probably damaging |
Het |
| Rit2 |
A |
G |
18: 31,449,892 (GRCm39) |
|
probably null |
Het |
| Runx1t1 |
G |
A |
4: 13,846,935 (GRCm39) |
G240R |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,493,845 (GRCm39) |
|
probably null |
Het |
| Serpina16 |
A |
C |
12: 103,638,691 (GRCm39) |
|
probably null |
Het |
| Slc17a3 |
A |
T |
13: 24,039,831 (GRCm39) |
M290L |
|
Het |
| Slc6a4 |
A |
T |
11: 76,901,522 (GRCm39) |
M86L |
probably benign |
Het |
| Spag7 |
A |
T |
11: 70,556,139 (GRCm39) |
V46E |
probably benign |
Het |
| Spata31h1 |
G |
A |
10: 82,127,131 (GRCm39) |
R1960W |
possibly damaging |
Het |
| Sptlc1 |
T |
C |
13: 53,498,914 (GRCm39) |
I271V |
probably benign |
Het |
| Stk17b |
A |
C |
1: 53,796,674 (GRCm39) |
H364Q |
probably benign |
Het |
| Strc |
T |
C |
2: 121,209,933 (GRCm39) |
H130R |
probably damaging |
Het |
| Stxbp1 |
T |
A |
2: 32,705,026 (GRCm39) |
D148V |
probably damaging |
Het |
| Tirap |
G |
A |
9: 35,100,225 (GRCm39) |
P153L |
probably damaging |
Het |
| Tmco3 |
G |
A |
8: 13,369,605 (GRCm39) |
|
probably null |
Het |
| Tmem51 |
T |
A |
4: 141,759,094 (GRCm39) |
D218V |
probably damaging |
Het |
| Trim40 |
A |
T |
17: 37,193,554 (GRCm39) |
D218E |
probably benign |
Het |
| Ttc21b |
T |
C |
2: 66,039,062 (GRCm39) |
D934G |
probably damaging |
Het |
| Vmn2r26 |
T |
C |
6: 124,002,914 (GRCm39) |
L108P |
probably damaging |
Het |
| Wipi1 |
A |
G |
11: 109,502,137 (GRCm39) |
M1T |
probably null |
Het |
| Zfp438 |
A |
G |
18: 5,214,712 (GRCm39) |
V82A |
probably damaging |
Het |
| Zfp853 |
G |
C |
5: 143,273,493 (GRCm39) |
A724G |
unknown |
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 |
|
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 |
|
R9231:Washc2
|
UTSW |
6 |
116,235,899 (GRCm39) |
missense |
probably benign |
0.05 |
|
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'- TTGCTGTCCAACACCTGCAC -3'
(R):5'- ATTCTGGAACTGTAAGAGACACCG -3'
Sequencing Primer
(F):5'- CTGCACAAAGGTTATTTCATTTCC -3'
(R):5'- ATGTGAAGAACTGTGTCCCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation