Incidental Mutation 'R9257:Washc2'
| ID |
701944 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Washc2
|
| Ensembl Gene |
ENSMUSG00000024104 |
| Gene Name |
WASH complex subunit 2 |
| Synonyms |
C530005J20Rik, D6Wsu116e, Fam21 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9257 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
116184988-116239632 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 116193069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 138
(Y138*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036759]
[ENSMUST00000203286]
[ENSMUST00000203523]
[ENSMUST00000204051]
[ENSMUST00000204283]
[ENSMUST00000204476]
|
| AlphaFold |
Q6PGL7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000036759
AA Change: Y138*
|
| SMART Domains |
Protein: ENSMUSP00000038983
Gene: ENSMUSG00000024104
AA Change: Y138*
| 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: ENSMUST00000203286
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203523
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204051
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000204283
AA Change: Y52*
|
| SMART Domains |
Protein: ENSMUSP00000144703
Gene: ENSMUSG00000024104
AA Change: Y52*
| 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 null
Transcript: ENSMUST00000204476
AA Change: Y138*
|
| SMART Domains |
Protein: ENSMUSP00000144982
Gene: ENSMUSG00000024104
AA Change: Y138*
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 97.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
A |
2: 151,315,627 (GRCm39) |
D17V |
probably benign |
Het |
| 9130401M01Rik |
A |
C |
15: 57,892,414 (GRCm39) |
H128Q |
possibly damaging |
Het |
| Abcd2 |
T |
C |
15: 91,075,315 (GRCm39) |
Y166C |
possibly damaging |
Het |
| Adamtsl4 |
C |
A |
3: 95,588,575 (GRCm39) |
V546F |
probably damaging |
Het |
| Als2cl |
T |
A |
9: 110,723,755 (GRCm39) |
V717E |
probably damaging |
Het |
| Atm |
A |
G |
9: 53,407,150 (GRCm39) |
|
probably null |
Het |
| Atp2c1 |
C |
A |
9: 105,291,851 (GRCm39) |
E904* |
probably null |
Het |
| Ccdc88c |
G |
A |
12: 100,889,474 (GRCm39) |
S1523F |
possibly damaging |
Het |
| Cds1 |
A |
T |
5: 101,963,751 (GRCm39) |
I357F |
probably benign |
Het |
| Cilp |
T |
A |
9: 65,174,451 (GRCm39) |
V13D |
possibly damaging |
Het |
| Copz2 |
A |
G |
11: 96,748,386 (GRCm39) |
D180G |
possibly damaging |
Het |
| Cpsf1 |
C |
T |
15: 76,484,992 (GRCm39) |
E546K |
probably benign |
Het |
| Ctsm |
T |
C |
13: 61,684,413 (GRCm39) |
N320D |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,907,863 (GRCm39) |
T2713I |
probably benign |
Het |
| Fcrl5 |
T |
A |
3: 87,343,195 (GRCm39) |
S2T |
probably benign |
Het |
| Fgfr4 |
T |
C |
13: 55,315,974 (GRCm39) |
S796P |
unknown |
Het |
| Flrt3 |
A |
G |
2: 140,502,159 (GRCm39) |
F490L |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,910,359 (GRCm39) |
I3263F |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,301,648 (GRCm39) |
D3793V |
probably damaging |
Het |
| Kif5c |
T |
A |
2: 49,590,604 (GRCm39) |
L269* |
probably null |
Het |
| Klhl32 |
A |
G |
4: 24,649,608 (GRCm39) |
V396A |
probably benign |
Het |
| Krt1c |
C |
T |
15: 101,724,926 (GRCm39) |
R228Q |
probably benign |
Het |
| Lcn9 |
T |
C |
2: 25,714,784 (GRCm39) |
|
probably null |
Het |
| Lingo4 |
A |
C |
3: 94,310,676 (GRCm39) |
D538A |
probably benign |
Het |
| Lonp1 |
G |
T |
17: 56,927,516 (GRCm39) |
Y299* |
probably null |
Het |
| Mettl16 |
T |
A |
11: 74,708,127 (GRCm39) |
V442D |
possibly damaging |
Het |
| Mettl25b |
G |
T |
3: 87,831,768 (GRCm39) |
Q397K |
probably benign |
Het |
| Mis18bp1 |
A |
G |
12: 65,180,631 (GRCm39) |
V950A |
probably benign |
Het |
| Mndal |
A |
T |
1: 173,690,274 (GRCm39) |
V352E |
probably damaging |
Het |
| Mrpl55 |
T |
C |
11: 59,096,578 (GRCm39) |
V117A |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,226,738 (GRCm39) |
S1430C |
unknown |
Het |
| Myh11 |
C |
A |
16: 14,087,120 (GRCm39) |
G119C |
|
Het |
| Myorg |
T |
C |
4: 41,499,030 (GRCm39) |
D200G |
probably benign |
Het |
| Neu1 |
A |
G |
17: 35,150,396 (GRCm39) |
D5G |
probably benign |
Het |
| Nrcam |
T |
A |
12: 44,610,837 (GRCm39) |
D512E |
probably benign |
Het |
| Nup214 |
T |
G |
2: 31,923,347 (GRCm39) |
V1292G |
possibly damaging |
Het |
| Nwd1 |
T |
A |
8: 73,397,566 (GRCm39) |
L602M |
probably damaging |
Het |
| Or6c3b |
C |
A |
10: 129,527,003 (GRCm39) |
L302F |
probably benign |
Het |
| Pck2 |
G |
T |
14: 55,782,702 (GRCm39) |
G379W |
probably damaging |
Het |
| Per2 |
C |
T |
1: 91,376,445 (GRCm39) |
V143M |
probably damaging |
Het |
| Pfkl |
A |
T |
10: 77,825,489 (GRCm39) |
Y634N |
probably damaging |
Het |
| Phlpp1 |
A |
G |
1: 106,100,281 (GRCm39) |
D183G |
possibly damaging |
Het |
| Pkdrej |
T |
A |
15: 85,700,098 (GRCm39) |
Y1946F |
probably damaging |
Het |
| Plxna4 |
C |
T |
6: 32,139,018 (GRCm39) |
D1717N |
probably damaging |
Het |
| Ppp1r14bl |
G |
T |
1: 23,141,275 (GRCm39) |
T13N |
probably benign |
Het |
| Pramel23 |
T |
A |
4: 143,425,685 (GRCm39) |
D86V |
probably damaging |
Het |
| Prdm16 |
A |
T |
4: 154,422,155 (GRCm39) |
V879E |
probably damaging |
Het |
| Prr23a3 |
T |
C |
9: 98,747,298 (GRCm39) |
V84A |
probably benign |
Het |
| Ptp4a1 |
A |
G |
1: 30,985,346 (GRCm39) |
|
probably benign |
Het |
| Rhbdf1 |
T |
C |
11: 32,160,754 (GRCm39) |
H634R |
probably benign |
Het |
| Rmi2 |
T |
C |
16: 10,653,089 (GRCm39) |
S46P |
probably benign |
Het |
| Rsf1 |
A |
T |
7: 97,334,918 (GRCm39) |
E1350D |
|
Het |
| Slc6a6 |
T |
A |
6: 91,716,952 (GRCm39) |
F276Y |
possibly damaging |
Het |
| Sppl3 |
A |
G |
5: 115,221,532 (GRCm39) |
Y120C |
probably benign |
Het |
| Stard13 |
G |
T |
5: 150,985,956 (GRCm39) |
A518E |
probably benign |
Het |
| Taf2 |
A |
T |
15: 54,929,409 (GRCm39) |
V49E |
possibly damaging |
Het |
| Tas2r140 |
T |
A |
6: 40,468,592 (GRCm39) |
W141R |
probably damaging |
Het |
| Tlx2 |
T |
A |
6: 83,047,035 (GRCm39) |
H9L |
unknown |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tmem132d |
G |
A |
5: 127,861,491 (GRCm39) |
Q877* |
probably null |
Het |
| Unc5d |
A |
T |
8: 29,215,174 (GRCm39) |
|
probably null |
Het |
| Upp1 |
A |
T |
11: 9,075,661 (GRCm39) |
T4S |
probably benign |
Het |
| Uros |
A |
T |
7: 133,292,853 (GRCm39) |
I146N |
probably damaging |
Het |
| Vsig10 |
A |
T |
5: 117,463,131 (GRCm39) |
D119V |
probably benign |
Het |
| Ywhah |
T |
A |
5: 33,184,095 (GRCm39) |
D99E |
probably benign |
Het |
| Zdbf2 |
G |
A |
1: 63,345,400 (GRCm39) |
G1260R |
probably damaging |
Het |
| Zfp663 |
T |
C |
2: 165,195,974 (GRCm39) |
T82A |
probably benign |
Het |
| Zfp831 |
T |
A |
2: 174,488,156 (GRCm39) |
C944S |
possibly 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 |
|
R9231:Washc2
|
UTSW |
6 |
116,235,899 (GRCm39) |
missense |
probably benign |
0.05 |
|
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'- TCAAGGTAGAACATGACTCCG -3'
(R):5'- TCAAGTAAGGCTCTCAGAAGGG -3'
Sequencing Primer
(F):5'- TCAAGGTAGAACATGACTCCGTTGAC -3'
(R):5'- TTTGGGATGCTAATAATACCCCCAGC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation