Incidental Mutation 'R1702:Washc2'
| ID |
189794 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Washc2
|
| Ensembl Gene |
ENSMUSG00000024104 |
| Gene Name |
WASH complex subunit 2 |
| Synonyms |
C530005J20Rik, D6Wsu116e, Fam21 |
| MMRRC Submission |
039735-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1702 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
116184988-116239632 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116206267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 496
(S496P)
|
| 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: S496P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000038983
Gene: ENSMUSG00000024104
AA Change: S496P
| 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 |
noncoding transcript
Transcript: ENSMUST00000203297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203802
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203928
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204283
AA Change: S410P
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144703
Gene: ENSMUSG00000024104
AA Change: S410P
| 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 |
possibly damaging
Transcript: ENSMUST00000204476
AA Change: S496P
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144982
Gene: ENSMUSG00000024104
AA Change: S496P
| 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: 98.6%
- 10x: 96.9%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,981,925 (GRCm39) |
V1080A |
probably benign |
Het |
| Abcg4 |
A |
C |
9: 44,186,370 (GRCm39) |
V553G |
probably damaging |
Het |
| Ache |
T |
C |
5: 137,289,251 (GRCm39) |
V319A |
possibly damaging |
Het |
| Acsm2 |
T |
A |
7: 119,172,787 (GRCm39) |
M134K |
possibly damaging |
Het |
| Ank2 |
A |
T |
3: 126,749,548 (GRCm39) |
S494T |
probably benign |
Het |
| Asic3 |
A |
T |
5: 24,620,454 (GRCm39) |
T202S |
probably damaging |
Het |
| Baiap3 |
T |
A |
17: 25,463,779 (GRCm39) |
H886L |
probably damaging |
Het |
| Bltp2 |
T |
A |
11: 78,179,854 (GRCm39) |
C2126S |
probably damaging |
Het |
| Cidea |
T |
A |
18: 67,499,491 (GRCm39) |
I126K |
probably damaging |
Het |
| Cmklr1 |
T |
G |
5: 113,751,903 (GRCm39) |
K366T |
probably benign |
Het |
| Cntrl |
A |
T |
2: 35,061,848 (GRCm39) |
|
probably null |
Het |
| Crhr2 |
A |
G |
6: 55,069,520 (GRCm39) |
F378S |
probably damaging |
Het |
| Deaf1 |
C |
G |
7: 140,894,867 (GRCm39) |
R303T |
probably damaging |
Het |
| Dnah9 |
T |
A |
11: 65,976,021 (GRCm39) |
N1343Y |
possibly damaging |
Het |
| Dop1b |
A |
G |
16: 93,544,509 (GRCm39) |
K99E |
possibly damaging |
Het |
| Dpp4 |
A |
T |
2: 62,216,773 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
C |
1: 34,206,421 (GRCm39) |
V598A |
probably damaging |
Het |
| Ece2 |
C |
T |
16: 20,449,996 (GRCm39) |
R136C |
probably damaging |
Het |
| Efcab3 |
C |
T |
11: 104,581,832 (GRCm39) |
P58L |
probably benign |
Het |
| Egf |
C |
A |
3: 129,484,460 (GRCm39) |
V453L |
probably benign |
Het |
| Egr3 |
T |
A |
14: 70,317,216 (GRCm39) |
F342L |
probably damaging |
Het |
| Eif2ak2 |
A |
T |
17: 79,164,063 (GRCm39) |
I434N |
probably damaging |
Het |
| Emc1 |
A |
G |
4: 139,102,512 (GRCm39) |
T936A |
probably damaging |
Het |
| Fmod |
A |
T |
1: 133,968,500 (GRCm39) |
E180V |
probably damaging |
Het |
| Gabrg3 |
T |
C |
7: 56,634,848 (GRCm39) |
T112A |
probably damaging |
Het |
| Gak |
T |
C |
5: 108,754,242 (GRCm39) |
|
probably null |
Het |
| Gas2 |
T |
A |
7: 51,603,089 (GRCm39) |
|
probably null |
Het |
| Gm2381 |
T |
A |
7: 42,469,655 (GRCm39) |
Q156H |
probably benign |
Het |
| Golga2 |
T |
A |
2: 32,189,287 (GRCm39) |
S273T |
probably damaging |
Het |
| Homez |
T |
A |
14: 55,094,452 (GRCm39) |
T419S |
probably damaging |
Het |
| Igfbp6 |
T |
A |
15: 102,056,617 (GRCm39) |
Y184* |
probably null |
Het |
| Il11 |
A |
G |
7: 4,776,733 (GRCm39) |
S86P |
probably damaging |
Het |
| Itgal |
A |
G |
7: 126,904,197 (GRCm39) |
N270S |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,066,525 (GRCm39) |
R1119G |
probably benign |
Het |
| Lamp3 |
G |
T |
16: 19,494,822 (GRCm39) |
N294K |
probably benign |
Het |
| Mars1 |
T |
C |
10: 127,145,948 (GRCm39) |
I113M |
possibly damaging |
Het |
| Mgat5b |
A |
G |
11: 116,839,485 (GRCm39) |
T334A |
possibly damaging |
Het |
| Mis18bp1 |
A |
G |
12: 65,208,518 (GRCm39) |
I65T |
probably benign |
Het |
| Mmrn2 |
A |
T |
14: 34,119,871 (GRCm39) |
N247I |
probably benign |
Het |
| Muc6 |
G |
T |
7: 141,236,752 (GRCm39) |
N322K |
probably damaging |
Het |
| Mx2 |
A |
G |
16: 97,359,883 (GRCm39) |
H551R |
probably benign |
Het |
| Mylk |
T |
A |
16: 34,742,314 (GRCm39) |
V942E |
probably benign |
Het |
| Nes |
A |
G |
3: 87,883,286 (GRCm39) |
E515G |
probably benign |
Het |
| Nfatc3 |
T |
G |
8: 106,818,792 (GRCm39) |
S503R |
probably damaging |
Het |
| Nkain3 |
C |
A |
4: 20,158,339 (GRCm39) |
|
probably null |
Het |
| Noxa1 |
A |
G |
2: 24,982,596 (GRCm39) |
V73A |
probably damaging |
Het |
| Nup160 |
A |
T |
2: 90,514,302 (GRCm39) |
E83D |
probably damaging |
Het |
| Or12j3 |
A |
T |
7: 139,952,655 (GRCm39) |
Y289* |
probably null |
Het |
| Or4z4 |
C |
A |
19: 12,076,530 (GRCm39) |
V158L |
probably benign |
Het |
| Or5ac23 |
C |
A |
16: 59,149,504 (GRCm39) |
V123L |
probably benign |
Het |
| Or8b56 |
A |
G |
9: 38,739,839 (GRCm39) |
Y284C |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,046,187 (GRCm39) |
|
probably null |
Het |
| Rundc3b |
A |
G |
5: 8,562,318 (GRCm39) |
V350A |
probably benign |
Het |
| Scn1a |
C |
T |
2: 66,148,567 (GRCm39) |
D993N |
probably damaging |
Het |
| Sec24c |
G |
T |
14: 20,736,641 (GRCm39) |
G226V |
probably null |
Het |
| Septin11 |
T |
A |
5: 93,304,783 (GRCm39) |
I200N |
probably damaging |
Het |
| Shank3 |
G |
T |
15: 89,384,099 (GRCm39) |
G14C |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,270,862 (GRCm39) |
K153R |
possibly damaging |
Het |
| Slc25a39 |
T |
C |
11: 102,297,452 (GRCm39) |
D5G |
possibly damaging |
Het |
| Stoml3 |
A |
T |
3: 53,412,852 (GRCm39) |
T169S |
probably benign |
Het |
| Taf1b |
T |
A |
12: 24,559,125 (GRCm39) |
I83K |
possibly damaging |
Het |
| Tarbp1 |
T |
A |
8: 127,154,957 (GRCm39) |
Q1389L |
probably damaging |
Het |
| Thbs1 |
T |
A |
2: 117,943,923 (GRCm39) |
D180E |
probably benign |
Het |
| Tmc5 |
T |
A |
7: 118,271,462 (GRCm39) |
V925D |
probably benign |
Het |
| Tmem62 |
T |
C |
2: 120,809,708 (GRCm39) |
V130A |
probably damaging |
Het |
| Tpp2 |
C |
T |
1: 44,029,708 (GRCm39) |
P997L |
probably damaging |
Het |
| Trip12 |
A |
T |
1: 84,722,784 (GRCm39) |
I127N |
probably damaging |
Het |
| Upp2 |
T |
C |
2: 58,661,562 (GRCm39) |
F142L |
possibly damaging |
Het |
| Usf3 |
C |
T |
16: 44,039,995 (GRCm39) |
Q1492* |
probably null |
Het |
| Vcp |
T |
C |
4: 42,990,840 (GRCm39) |
D205G |
probably damaging |
Het |
| Vmn1r180 |
G |
A |
7: 23,652,394 (GRCm39) |
V186I |
possibly damaging |
Het |
| Wee2 |
T |
C |
6: 40,441,135 (GRCm39) |
I480T |
probably benign |
Het |
| Xylt2 |
T |
A |
11: 94,559,571 (GRCm39) |
H357L |
probably damaging |
Het |
| Zbed4 |
T |
C |
15: 88,665,056 (GRCm39) |
S375P |
probably damaging |
Het |
| Zfp442 |
A |
T |
2: 150,251,100 (GRCm39) |
Y266* |
probably null |
Het |
| Zfp600 |
A |
G |
4: 146,133,497 (GRCm39) |
T722A |
probably benign |
Het |
| Zfp976 |
T |
A |
7: 42,265,424 (GRCm39) |
H55L |
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 |
|
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'- GCAGGGCTCCACTCACTTTGTATT -3'
(R):5'- GCTTGCACGAAGGCTCAGACATATATT -3'
Sequencing Primer
(F):5'- AAGAAgtgtgtgtctgtgtgtc -3'
(R):5'- aataaacctttccctcccctac -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation