Incidental Mutation 'R1952:Washc2'
| ID |
217373 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Washc2
|
| Ensembl Gene |
ENSMUSG00000024104 |
| Gene Name |
WASH complex subunit 2 |
| Synonyms |
C530005J20Rik, D6Wsu116e, Fam21 |
| MMRRC Submission |
039966-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1952 (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 116232052 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 821
(S821P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144703
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036759]
[ENSMUST00000204283]
[ENSMUST00000204476]
|
| AlphaFold |
Q6PGL7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036759
AA Change: S907P
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000038983
Gene: ENSMUSG00000024104
AA Change: S907P
| 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: ENSMUST00000203802
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203980
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204283
AA Change: S821P
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000144703
Gene: ENSMUSG00000024104
AA Change: S821P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204495
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700024G13Rik |
A |
G |
14: 32,110,293 (GRCm39) |
V6A |
possibly damaging |
Het |
| Accsl |
G |
T |
2: 93,689,778 (GRCm39) |
H376Q |
probably damaging |
Het |
| Adgrg1 |
T |
C |
8: 95,735,119 (GRCm39) |
|
probably null |
Het |
| Alyref |
C |
G |
11: 120,486,758 (GRCm39) |
V168L |
probably damaging |
Het |
| Ankrd12 |
T |
C |
17: 66,338,566 (GRCm39) |
D128G |
probably damaging |
Het |
| Bcl2l14 |
A |
G |
6: 134,409,329 (GRCm39) |
Y301C |
probably damaging |
Het |
| Camsap3 |
A |
G |
8: 3,654,789 (GRCm39) |
T804A |
probably damaging |
Het |
| Capn11 |
A |
T |
17: 45,953,885 (GRCm39) |
W154R |
probably damaging |
Het |
| Cd44 |
T |
A |
2: 102,683,432 (GRCm39) |
T201S |
probably damaging |
Het |
| Cers4 |
G |
A |
8: 4,573,461 (GRCm39) |
W319* |
probably null |
Het |
| Col27a1 |
T |
A |
4: 63,202,130 (GRCm39) |
|
probably null |
Het |
| Crnkl1 |
G |
A |
2: 145,770,120 (GRCm39) |
A241V |
probably damaging |
Het |
| Cyp2c68 |
T |
C |
19: 39,700,972 (GRCm39) |
Y282C |
probably benign |
Het |
| Dmd |
T |
A |
X: 82,874,123 (GRCm39) |
I1342N |
probably damaging |
Het |
| Dusp7 |
T |
A |
9: 106,248,028 (GRCm39) |
C219S |
probably benign |
Het |
| Epha7 |
A |
G |
4: 28,950,474 (GRCm39) |
N759S |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,486,963 (GRCm39) |
V3413A |
probably benign |
Het |
| Gls2 |
A |
G |
10: 128,045,231 (GRCm39) |
H576R |
probably benign |
Het |
| Gm4884 |
G |
A |
7: 40,693,671 (GRCm39) |
V547M |
probably benign |
Het |
| Hap1 |
A |
G |
11: 100,243,105 (GRCm39) |
V174A |
probably damaging |
Het |
| Il12rb2 |
A |
G |
6: 67,269,300 (GRCm39) |
S838P |
probably damaging |
Het |
| Ints8 |
T |
C |
4: 11,221,150 (GRCm39) |
I742V |
probably benign |
Het |
| Katnal2 |
G |
T |
18: 77,067,707 (GRCm39) |
S411R |
probably benign |
Het |
| Lrp1 |
A |
C |
10: 127,403,300 (GRCm39) |
V2091G |
probably damaging |
Het |
| Mettl21c |
A |
T |
1: 44,056,368 (GRCm39) |
D20E |
probably damaging |
Het |
| Mib1 |
A |
T |
18: 10,812,077 (GRCm39) |
E991D |
possibly damaging |
Het |
| Mip |
T |
C |
10: 128,061,772 (GRCm39) |
S8P |
possibly damaging |
Het |
| Mllt6 |
T |
C |
11: 97,568,048 (GRCm39) |
S826P |
probably damaging |
Het |
| Mlst8 |
AT |
ATT |
17: 24,696,987 (GRCm39) |
|
probably null |
Het |
| Myrfl |
C |
T |
10: 116,658,716 (GRCm39) |
V414I |
probably benign |
Het |
| Nbeal1 |
T |
C |
1: 60,273,999 (GRCm39) |
V409A |
probably damaging |
Het |
| Nin |
T |
A |
12: 70,077,700 (GRCm39) |
Q1035L |
probably damaging |
Het |
| Nlgn1 |
T |
A |
3: 25,490,464 (GRCm39) |
D421V |
probably damaging |
Het |
| Nlrp10 |
A |
G |
7: 108,523,770 (GRCm39) |
V570A |
probably benign |
Het |
| Olfm3 |
A |
T |
3: 114,895,589 (GRCm39) |
E157V |
probably null |
Het |
| Or8g24 |
T |
A |
9: 38,989,580 (GRCm39) |
I154F |
probably benign |
Het |
| Or8g37 |
T |
C |
9: 39,731,363 (GRCm39) |
S143P |
probably benign |
Het |
| Otud7a |
A |
G |
7: 63,300,624 (GRCm39) |
D21G |
probably damaging |
Het |
| Pax2 |
A |
G |
19: 44,777,271 (GRCm39) |
T155A |
probably benign |
Het |
| Pcf11 |
A |
T |
7: 92,310,546 (GRCm39) |
S481T |
probably damaging |
Het |
| Prkab2 |
T |
C |
3: 97,573,943 (GRCm39) |
V194A |
probably benign |
Het |
| Prl3a1 |
G |
A |
13: 27,454,136 (GRCm39) |
G38E |
possibly damaging |
Het |
| Psmb8 |
T |
C |
17: 34,419,884 (GRCm39) |
V246A |
probably damaging |
Het |
| Ptpn12 |
A |
T |
5: 21,203,308 (GRCm39) |
V490E |
probably benign |
Het |
| Ptprm |
A |
T |
17: 67,247,575 (GRCm39) |
S587T |
probably benign |
Het |
| Qars1 |
G |
A |
9: 108,390,380 (GRCm39) |
R427H |
probably benign |
Het |
| R3hdml |
T |
C |
2: 163,340,216 (GRCm39) |
F128L |
probably benign |
Het |
| Rapgef4 |
A |
G |
2: 72,038,471 (GRCm39) |
M541V |
probably benign |
Het |
| Rhbdf1 |
G |
A |
11: 32,164,277 (GRCm39) |
R234* |
probably null |
Het |
| Rufy1 |
A |
T |
11: 50,297,233 (GRCm39) |
D406E |
probably benign |
Het |
| Satb1 |
A |
T |
17: 52,047,173 (GRCm39) |
L683Q |
probably damaging |
Het |
| Satb2 |
T |
C |
1: 56,938,229 (GRCm39) |
T132A |
probably damaging |
Het |
| Sbspon |
A |
G |
1: 15,930,519 (GRCm39) |
S156P |
probably damaging |
Het |
| Shb |
A |
T |
4: 45,458,347 (GRCm39) |
|
probably null |
Het |
| She |
A |
G |
3: 89,756,792 (GRCm39) |
K282R |
possibly damaging |
Het |
| Slc25a13 |
A |
G |
6: 6,152,482 (GRCm39) |
L85P |
probably damaging |
Het |
| Slc7a13 |
A |
T |
4: 19,841,578 (GRCm39) |
H475L |
probably benign |
Het |
| Sorl1 |
C |
T |
9: 41,957,920 (GRCm39) |
V575I |
probably benign |
Het |
| Spag9 |
T |
A |
11: 93,988,184 (GRCm39) |
C833S |
possibly damaging |
Het |
| Speer2 |
A |
C |
16: 69,654,052 (GRCm39) |
N232K |
probably damaging |
Het |
| Syncrip |
A |
T |
9: 88,358,927 (GRCm39) |
M194K |
probably damaging |
Het |
| Sytl3 |
A |
C |
17: 6,995,732 (GRCm39) |
T171P |
probably damaging |
Het |
| Taar7f |
T |
A |
10: 23,925,747 (GRCm39) |
Y114N |
probably damaging |
Het |
| Tamalin |
T |
C |
15: 101,122,381 (GRCm39) |
Y67H |
probably benign |
Het |
| Tap1 |
C |
G |
17: 34,412,481 (GRCm39) |
P506R |
probably damaging |
Het |
| Tle6 |
T |
C |
10: 81,431,319 (GRCm39) |
D212G |
possibly damaging |
Het |
| Trim80 |
G |
T |
11: 115,332,155 (GRCm39) |
E116* |
probably null |
Het |
| Ttll4 |
A |
G |
1: 74,726,718 (GRCm39) |
R745G |
probably damaging |
Het |
| Vdac2 |
A |
T |
14: 21,887,947 (GRCm39) |
I85F |
possibly damaging |
Het |
| Vmn1r188 |
A |
G |
13: 22,272,309 (GRCm39) |
R88G |
probably damaging |
Het |
| Wdhd1 |
T |
C |
14: 47,507,647 (GRCm39) |
Y213C |
probably damaging |
Het |
| Wdr55 |
C |
A |
18: 36,893,437 (GRCm39) |
P33Q |
probably damaging |
Het |
| Yrdc |
C |
T |
4: 124,745,739 (GRCm39) |
A32V |
probably benign |
Het |
| Zfp608 |
T |
A |
18: 55,030,851 (GRCm39) |
K1030* |
probably null |
Het |
| Zfp618 |
T |
A |
4: 63,050,555 (GRCm39) |
|
probably null |
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 |
|
|
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'- GAAATGCTGCCTATGAGTTGG -3'
(R):5'- CAGAACAGGCTTCTCCAGTG -3'
Sequencing Primer
(F):5'- GTTAGCCATCATTTTAGAATGGAGCC -3'
(R):5'- GGTGGCCATTTCCTCCTTAACTAAG -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation