Incidental Mutation 'R6086:Washc2'
| ID |
508663 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Washc2
|
| Ensembl Gene |
ENSMUSG00000024104 |
| Gene Name |
WASH complex subunit 2 |
| Synonyms |
C530005J20Rik, D6Wsu116e, Fam21 |
| MMRRC Submission |
044427-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6086 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
116184988-116239632 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 116233177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144703
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036759]
[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: ENSMUST00000203802
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203980
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000204364
|
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
96% (65/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apob |
G |
T |
12: 8,065,164 (GRCm39) |
K4044N |
probably benign |
Het |
| Asic4 |
G |
A |
1: 75,449,887 (GRCm39) |
V468I |
possibly damaging |
Het |
| Atf4 |
T |
A |
15: 80,141,654 (GRCm39) |
V348D |
probably benign |
Het |
| Bcl9 |
A |
G |
3: 97,112,840 (GRCm39) |
V1205A |
possibly damaging |
Het |
| Bora |
A |
T |
14: 99,299,730 (GRCm39) |
Q234L |
possibly damaging |
Het |
| Cap2 |
C |
A |
13: 46,789,188 (GRCm39) |
P131Q |
probably damaging |
Het |
| Cdyl2 |
A |
G |
8: 117,316,035 (GRCm39) |
S318P |
probably damaging |
Het |
| Ces1a |
T |
G |
8: 93,753,981 (GRCm39) |
N341H |
probably benign |
Het |
| Cimap2 |
T |
C |
4: 106,470,403 (GRCm39) |
E218G |
probably damaging |
Het |
| Crlf3 |
C |
T |
11: 79,939,436 (GRCm39) |
V352M |
possibly damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Cyren |
A |
G |
6: 34,851,555 (GRCm39) |
S127P |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,406,834 (GRCm39) |
T529A |
probably benign |
Het |
| Dnah9 |
C |
T |
11: 65,880,741 (GRCm39) |
D2619N |
probably damaging |
Het |
| Dnah9 |
A |
C |
11: 65,976,000 (GRCm39) |
S1350A |
probably benign |
Het |
| Dnajc6 |
C |
T |
4: 101,455,004 (GRCm39) |
S65L |
probably benign |
Het |
| Dnm3 |
C |
A |
1: 162,148,602 (GRCm39) |
R256S |
probably damaging |
Het |
| Enpp2 |
T |
C |
15: 54,709,230 (GRCm39) |
D795G |
probably damaging |
Het |
| Fah |
A |
T |
7: 84,238,120 (GRCm39) |
W367R |
probably damaging |
Het |
| Fam220a |
T |
A |
5: 143,548,796 (GRCm39) |
H69Q |
probably benign |
Het |
| Fgd3 |
T |
A |
13: 49,440,772 (GRCm39) |
T220S |
probably benign |
Het |
| Furin |
G |
T |
7: 80,045,179 (GRCm39) |
H248Q |
probably damaging |
Het |
| Gabrg1 |
A |
T |
5: 70,911,396 (GRCm39) |
L410Q |
probably damaging |
Het |
| Gm10801 |
AAGT |
AAGTAGT |
2: 98,494,148 (GRCm39) |
|
probably null |
Het |
| Gm9742 |
T |
C |
13: 8,080,069 (GRCm39) |
|
noncoding transcript |
Het |
| Gpcpd1 |
A |
G |
2: 132,380,034 (GRCm39) |
S252P |
probably damaging |
Het |
| Hnrnpdl |
C |
T |
5: 100,184,340 (GRCm39) |
G398S |
probably null |
Het |
| Hspa1l |
T |
C |
17: 35,197,131 (GRCm39) |
V390A |
possibly damaging |
Het |
| Htr3b |
T |
C |
9: 48,858,598 (GRCm39) |
S94G |
probably benign |
Het |
| Klf10 |
G |
T |
15: 38,297,181 (GRCm39) |
S271R |
probably benign |
Het |
| Klk1b3 |
T |
A |
7: 43,851,158 (GRCm39) |
L197Q |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,924,549 (GRCm39) |
R1861G |
probably damaging |
Het |
| Myo9a |
C |
T |
9: 59,697,340 (GRCm39) |
Q374* |
probably null |
Het |
| Myt1l |
G |
A |
12: 29,882,331 (GRCm39) |
G509R |
unknown |
Het |
| Ncapg |
T |
C |
5: 45,850,578 (GRCm39) |
L728P |
probably damaging |
Het |
| Nfxl1 |
A |
C |
5: 72,698,362 (GRCm39) |
F228V |
probably benign |
Het |
| Ntaq1 |
C |
A |
15: 58,014,024 (GRCm39) |
A71E |
probably damaging |
Het |
| Oc90 |
A |
G |
15: 65,761,560 (GRCm39) |
S153P |
probably damaging |
Het |
| Or4c123 |
A |
G |
2: 89,127,198 (GRCm39) |
C139R |
probably damaging |
Het |
| Or5b105 |
A |
G |
19: 13,079,745 (GRCm39) |
*308Q |
probably null |
Het |
| Pbk |
A |
T |
14: 66,052,702 (GRCm39) |
K182* |
probably null |
Het |
| Piezo1 |
A |
G |
8: 123,228,396 (GRCm39) |
F296S |
possibly damaging |
Het |
| Psmg1 |
T |
A |
16: 95,781,244 (GRCm39) |
Y288F |
probably damaging |
Het |
| Rab11fip4 |
G |
A |
11: 79,574,306 (GRCm39) |
D132N |
probably damaging |
Het |
| Recql4 |
T |
C |
15: 76,588,787 (GRCm39) |
D1051G |
probably damaging |
Het |
| Reep5 |
A |
C |
18: 34,490,184 (GRCm39) |
D104E |
probably damaging |
Het |
| Rnpepl1 |
T |
C |
1: 92,845,403 (GRCm39) |
Y441H |
probably damaging |
Het |
| Scnm1 |
T |
C |
3: 95,037,596 (GRCm39) |
I157V |
probably benign |
Het |
| Sema3b |
T |
C |
9: 107,478,047 (GRCm39) |
D446G |
probably damaging |
Het |
| Sema4d |
C |
T |
13: 51,867,781 (GRCm39) |
R190Q |
probably damaging |
Het |
| Slco3a1 |
G |
A |
7: 73,968,338 (GRCm39) |
R461C |
possibly damaging |
Het |
| Spmap2l |
T |
A |
5: 77,209,152 (GRCm39) |
V458E |
probably benign |
Het |
| Tenm2 |
T |
A |
11: 35,899,473 (GRCm39) |
I2562F |
possibly damaging |
Het |
| Tmem40 |
G |
T |
6: 115,710,628 (GRCm39) |
N120K |
possibly damaging |
Het |
| Tmod3 |
T |
C |
9: 75,407,405 (GRCm39) |
H351R |
probably benign |
Het |
| Tnn |
C |
T |
1: 159,913,690 (GRCm39) |
V1268M |
probably damaging |
Het |
| Tpmt |
T |
A |
13: 47,188,506 (GRCm39) |
D132V |
probably damaging |
Het |
| Trgc3 |
T |
C |
13: 19,447,454 (GRCm39) |
S136P |
probably damaging |
Het |
| Trib1 |
G |
A |
15: 59,526,324 (GRCm39) |
R298H |
probably damaging |
Het |
| Tsen2 |
A |
G |
6: 115,537,036 (GRCm39) |
E264G |
probably benign |
Het |
| Urah |
A |
G |
7: 140,416,711 (GRCm39) |
I60M |
probably benign |
Het |
| Vmn2r26 |
T |
A |
6: 124,016,519 (GRCm39) |
S328T |
possibly damaging |
Het |
| Vmn2r27 |
G |
C |
6: 124,168,958 (GRCm39) |
T724R |
probably damaging |
Het |
| Zfp955b |
T |
A |
17: 33,521,478 (GRCm39) |
W316R |
probably benign |
Het |
| Zranb2 |
T |
C |
3: 157,248,883 (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 |
|
|
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 |
|
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'- AATGGCAGCCTTCTGTCCTC -3'
(R):5'- ATACTTGTGCCCATCACTGG -3'
|
| Posted On |
2018-03-23 |
Incidental Mutation