Incidental Mutation 'R1666:Washc2'
| ID |
187183 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Washc2
|
| Ensembl Gene |
ENSMUSG00000024104 |
| Gene Name |
WASH complex subunit 2 |
| Synonyms |
C530005J20Rik, D6Wsu116e, Fam21 |
| MMRRC Submission |
039702-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1666 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
116184988-116239632 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 116200215 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144982
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036759]
[ENSMUST00000203286]
[ENSMUST00000203928]
[ENSMUST00000204283]
[ENSMUST00000204283]
[ENSMUST00000204476]
|
| AlphaFold |
Q6PGL7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000036759
|
| SMART Domains |
Protein: ENSMUSP00000038983
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 |
|
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 |
noncoding transcript
Transcript: ENSMUST00000203161
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203286
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203802
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203928
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000204283
|
| SMART Domains |
Protein: ENSMUSP00000144703
Gene: ENSMUSG00000024104
| 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: ENSMUST00000204283
|
| SMART Domains |
Protein: ENSMUSP00000144703
Gene: ENSMUSG00000024104
| 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
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvrl1 |
G |
A |
15: 101,035,458 (GRCm39) |
R328H |
probably damaging |
Het |
| Afp |
T |
C |
5: 90,652,927 (GRCm39) |
S466P |
probably damaging |
Het |
| Arhgap45 |
A |
G |
10: 79,864,584 (GRCm39) |
S879G |
possibly damaging |
Het |
| Asic1 |
A |
G |
15: 99,597,006 (GRCm39) |
D556G |
probably damaging |
Het |
| Atp2a3 |
T |
A |
11: 72,869,633 (GRCm39) |
|
probably null |
Het |
| Brinp2 |
C |
A |
1: 158,074,128 (GRCm39) |
E664D |
probably damaging |
Het |
| Cap2 |
C |
A |
13: 46,768,799 (GRCm39) |
H147N |
probably damaging |
Het |
| Cd209f |
G |
A |
8: 4,154,862 (GRCm39) |
Q79* |
probably null |
Het |
| Chrna7 |
T |
C |
7: 62,861,890 (GRCm39) |
Y54C |
possibly damaging |
Het |
| Clec1a |
T |
C |
6: 129,413,967 (GRCm39) |
D40G |
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,855,184 (GRCm39) |
E148G |
unknown |
Het |
| Comp |
A |
T |
8: 70,831,607 (GRCm39) |
|
probably null |
Het |
| Cpz |
A |
G |
5: 35,665,460 (GRCm39) |
|
probably null |
Het |
| Cyfip1 |
T |
A |
7: 55,521,646 (GRCm39) |
N13K |
probably damaging |
Het |
| Cyp2c50 |
A |
T |
19: 40,079,499 (GRCm39) |
M198L |
probably benign |
Het |
| Deup1 |
A |
T |
9: 15,486,487 (GRCm39) |
Y398N |
possibly damaging |
Het |
| Elapor1 |
A |
G |
3: 108,377,313 (GRCm39) |
S434P |
probably benign |
Het |
| Epb41l4a |
A |
G |
18: 34,054,962 (GRCm39) |
L42P |
probably damaging |
Het |
| Exo1 |
T |
C |
1: 175,736,052 (GRCm39) |
I812T |
possibly damaging |
Het |
| Fbxl17 |
A |
T |
17: 63,692,060 (GRCm39) |
|
probably null |
Het |
| Fxn |
A |
G |
19: 24,239,377 (GRCm39) |
Y172H |
probably damaging |
Het |
| Gabra6 |
A |
G |
11: 42,208,461 (GRCm39) |
S124P |
probably damaging |
Het |
| Gje1 |
C |
A |
10: 14,592,551 (GRCm39) |
W77L |
possibly damaging |
Het |
| Glra1 |
A |
G |
11: 55,465,225 (GRCm39) |
S23P |
probably damaging |
Het |
| Gm6811 |
T |
C |
17: 21,314,529 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1l |
T |
A |
18: 10,501,080 (GRCm39) |
|
probably null |
Het |
| Greb1l |
T |
C |
18: 10,529,708 (GRCm39) |
|
probably null |
Het |
| Grm6 |
A |
T |
11: 50,750,711 (GRCm39) |
I625F |
probably damaging |
Het |
| Guca1a |
A |
G |
17: 47,711,167 (GRCm39) |
F60L |
probably damaging |
Het |
| Hectd1 |
T |
A |
12: 51,800,607 (GRCm39) |
E2070D |
possibly damaging |
Het |
| Itga5 |
G |
A |
15: 103,256,329 (GRCm39) |
T910I |
probably benign |
Het |
| Kctd10 |
A |
G |
5: 114,507,051 (GRCm39) |
V142A |
probably benign |
Het |
| Kif1c |
C |
T |
11: 70,619,223 (GRCm39) |
L953F |
probably damaging |
Het |
| Lmtk3 |
A |
T |
7: 45,443,588 (GRCm39) |
D757V |
probably benign |
Het |
| Lpcat1 |
T |
C |
13: 73,658,242 (GRCm39) |
|
probably null |
Het |
| Lrrc30 |
A |
T |
17: 67,939,200 (GRCm39) |
C127S |
probably benign |
Het |
| Mc4r |
A |
G |
18: 66,992,480 (GRCm39) |
L211P |
probably damaging |
Het |
| Mgat5b |
T |
A |
11: 116,874,474 (GRCm39) |
N635K |
probably benign |
Het |
| Mms19 |
A |
T |
19: 41,940,995 (GRCm39) |
M443K |
possibly damaging |
Het |
| Mroh5 |
T |
C |
15: 73,659,754 (GRCm39) |
N359S |
probably benign |
Het |
| Nlrc4 |
G |
A |
17: 74,752,901 (GRCm39) |
T494M |
probably damaging |
Het |
| Ntf3 |
T |
C |
6: 126,079,401 (GRCm39) |
D35G |
possibly damaging |
Het |
| Or5g25 |
A |
T |
2: 85,478,157 (GRCm39) |
C169* |
probably null |
Het |
| Osbpl5 |
T |
C |
7: 143,262,776 (GRCm39) |
H192R |
probably damaging |
Het |
| Parp4 |
A |
T |
14: 56,861,620 (GRCm39) |
K984N |
possibly damaging |
Het |
| Pdgfra |
G |
A |
5: 75,349,681 (GRCm39) |
G892D |
possibly damaging |
Het |
| Pik3c2g |
A |
T |
6: 139,612,634 (GRCm39) |
|
probably benign |
Het |
| Ppcdc |
T |
A |
9: 57,321,998 (GRCm39) |
M181L |
possibly damaging |
Het |
| Pramel7 |
G |
A |
2: 87,322,747 (GRCm39) |
P6S |
probably damaging |
Het |
| Prkcz |
G |
T |
4: 155,374,208 (GRCm39) |
F69L |
probably damaging |
Het |
| Prkd1 |
G |
A |
12: 50,441,709 (GRCm39) |
H277Y |
probably damaging |
Het |
| Ptgs2 |
A |
G |
1: 149,977,021 (GRCm39) |
Y44C |
probably damaging |
Het |
| Rbck1 |
T |
A |
2: 152,158,819 (GRCm39) |
S488C |
probably damaging |
Het |
| Rbl1 |
T |
C |
2: 157,001,654 (GRCm39) |
Y878C |
probably damaging |
Het |
| Rbm6 |
G |
A |
9: 107,669,055 (GRCm39) |
T619I |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,420,086 (GRCm39) |
I342T |
probably damaging |
Het |
| Rpn2 |
C |
T |
2: 157,136,075 (GRCm39) |
T161M |
possibly damaging |
Het |
| Rufy4 |
G |
A |
1: 74,186,837 (GRCm39) |
V542I |
probably benign |
Het |
| Sema5b |
C |
T |
16: 35,478,852 (GRCm39) |
P559S |
probably benign |
Het |
| Serpinb3d |
A |
G |
1: 107,008,481 (GRCm39) |
V128A |
probably benign |
Het |
| Slc35f3 |
T |
A |
8: 127,115,960 (GRCm39) |
S296T |
probably damaging |
Het |
| Slco1a8 |
T |
A |
6: 141,927,775 (GRCm39) |
|
probably null |
Het |
| Smarca2 |
A |
G |
19: 26,624,434 (GRCm39) |
I365V |
possibly damaging |
Het |
| Spdya |
T |
A |
17: 71,885,235 (GRCm39) |
C230S |
probably damaging |
Het |
| Sv2b |
G |
A |
7: 74,856,089 (GRCm39) |
A67V |
probably benign |
Het |
| Tapbpl |
A |
G |
6: 125,207,164 (GRCm39) |
V175A |
probably benign |
Het |
| Tmt1a3 |
A |
G |
15: 100,233,099 (GRCm39) |
I97V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,642,095 (GRCm39) |
T13373A |
probably damaging |
Het |
| Tubb5 |
A |
T |
17: 36,147,530 (GRCm39) |
N52K |
probably benign |
Het |
| Tyr |
T |
A |
7: 87,142,149 (GRCm39) |
Y137F |
probably damaging |
Het |
| Unc45b |
T |
A |
11: 82,808,565 (GRCm39) |
I217N |
probably benign |
Het |
| Vmn1r202 |
A |
T |
13: 22,685,540 (GRCm39) |
D292E |
possibly damaging |
Het |
| Vmn1r22 |
A |
G |
6: 57,877,704 (GRCm39) |
M91T |
probably benign |
Het |
| Zfp566 |
A |
T |
7: 29,777,901 (GRCm39) |
H93Q |
probably benign |
Het |
| Zfp740 |
A |
G |
15: 102,116,753 (GRCm39) |
D56G |
probably damaging |
Het |
| Zfp804b |
A |
C |
5: 6,821,323 (GRCm39) |
L580R |
possibly damaging |
Het |
| Zmiz2 |
T |
G |
11: 6,346,836 (GRCm39) |
S148R |
probably benign |
Het |
| Zmym6 |
T |
A |
4: 127,016,652 (GRCm39) |
I719N |
probably damaging |
Het |
| Zyx |
T |
A |
6: 42,332,966 (GRCm39) |
V372E |
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 |
|
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 |
|
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'- TGCAGTCATGAGCAGCGAATCAG -3'
(R):5'- TGGCAAGGGAACACATAGATGTCAC -3'
Sequencing Primer
(F):5'- GAGCAGCGAATCAGTATCTATAAC -3'
(R):5'- gttcaaatcccagcaaccac -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation