Incidental Mutation 'R4089:Washc2'
| ID |
317505 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Washc2
|
| Ensembl Gene |
ENSMUSG00000024104 |
| Gene Name |
WASH complex subunit 2 |
| Synonyms |
C530005J20Rik, D6Wsu116e, Fam21 |
| MMRRC Submission |
040982-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4089 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
116184988-116239632 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 116233253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144703
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036759]
[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: 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 |
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
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| A530064D06Rik |
A |
G |
17: 48,473,678 (GRCm39) |
S80P |
probably damaging |
Het |
| Acss3 |
T |
G |
10: 106,889,313 (GRCm39) |
Y169S |
probably damaging |
Het |
| Actr5 |
T |
C |
2: 158,467,022 (GRCm39) |
|
probably benign |
Het |
| Arhgef17 |
T |
A |
7: 100,533,006 (GRCm39) |
E1173V |
probably damaging |
Het |
| Brca1 |
T |
C |
11: 101,415,002 (GRCm39) |
N1044S |
possibly damaging |
Het |
| Cap1 |
A |
G |
4: 122,756,202 (GRCm39) |
V398A |
probably benign |
Het |
| Cbs |
A |
C |
17: 31,851,980 (GRCm39) |
C8G |
probably benign |
Het |
| Csmd1 |
T |
A |
8: 16,042,738 (GRCm39) |
I2332F |
probably damaging |
Het |
| Ddx4 |
A |
G |
13: 112,750,295 (GRCm39) |
V386A |
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,114,323 (GRCm39) |
|
probably null |
Het |
| Dock9 |
A |
T |
14: 121,820,883 (GRCm39) |
C1494S |
probably damaging |
Het |
| Ehbp1 |
A |
T |
11: 22,045,898 (GRCm39) |
L592Q |
possibly damaging |
Het |
| Fbn2 |
C |
T |
18: 58,186,841 (GRCm39) |
D1687N |
probably benign |
Het |
| Flt1 |
C |
A |
5: 147,501,051 (GRCm39) |
L1327F |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,341,802 (GRCm39) |
F1365S |
probably damaging |
Het |
| Gigyf2 |
A |
G |
1: 87,371,394 (GRCm39) |
E1169G |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gm14443 |
T |
C |
2: 175,013,685 (GRCm39) |
Y29C |
probably damaging |
Het |
| Gpr108 |
A |
G |
17: 57,544,925 (GRCm39) |
Y313H |
probably damaging |
Het |
| Ifngr1 |
T |
C |
10: 19,477,233 (GRCm39) |
|
probably null |
Het |
| Il31ra |
C |
T |
13: 112,688,453 (GRCm39) |
W41* |
probably null |
Het |
| Ints4 |
T |
A |
7: 97,178,462 (GRCm39) |
Y687* |
probably null |
Het |
| Jpt2 |
A |
G |
17: 25,175,076 (GRCm39) |
S37P |
probably benign |
Het |
| Kcnk9 |
A |
G |
15: 72,418,112 (GRCm39) |
V6A |
probably benign |
Het |
| Lamc3 |
C |
T |
2: 31,810,520 (GRCm39) |
R797* |
probably null |
Het |
| Lrig1 |
A |
G |
6: 94,586,840 (GRCm39) |
I612T |
possibly damaging |
Het |
| Mapk4 |
C |
A |
18: 74,063,530 (GRCm39) |
C564F |
probably damaging |
Het |
| Marveld2 |
T |
A |
13: 100,736,988 (GRCm39) |
H215L |
probably benign |
Het |
| Mindy3 |
T |
C |
2: 12,369,327 (GRCm39) |
M84V |
probably benign |
Het |
| Nek3 |
T |
C |
8: 22,639,929 (GRCm39) |
D182G |
probably damaging |
Het |
| Or10ak7 |
C |
T |
4: 118,791,230 (GRCm39) |
E272K |
probably benign |
Het |
| Pkp3 |
G |
A |
7: 140,664,056 (GRCm39) |
R411H |
probably damaging |
Het |
| Plau |
A |
G |
14: 20,891,134 (GRCm39) |
D366G |
probably damaging |
Het |
| Prkd3 |
A |
G |
17: 79,278,817 (GRCm39) |
M423T |
possibly damaging |
Het |
| Prmt9 |
A |
T |
8: 78,299,174 (GRCm39) |
I623L |
probably benign |
Het |
| Rgs6 |
A |
T |
12: 83,110,261 (GRCm39) |
E175D |
probably damaging |
Het |
| Rnf135 |
G |
A |
11: 80,089,872 (GRCm39) |
G403S |
probably damaging |
Het |
| Scn11a |
C |
T |
9: 119,624,719 (GRCm39) |
|
probably null |
Het |
| Snap23 |
C |
T |
2: 120,414,856 (GRCm39) |
|
probably benign |
Het |
| Sos1 |
A |
G |
17: 80,756,781 (GRCm39) |
V257A |
probably benign |
Het |
| Sox10 |
C |
T |
15: 79,040,563 (GRCm39) |
V165M |
possibly damaging |
Het |
| Sypl2 |
A |
G |
3: 108,124,992 (GRCm39) |
I123T |
possibly damaging |
Het |
| Tex14 |
A |
G |
11: 87,403,029 (GRCm39) |
D533G |
probably damaging |
Het |
| Topbp1 |
T |
C |
9: 103,201,700 (GRCm39) |
|
probably null |
Het |
| Trim30d |
T |
C |
7: 104,137,007 (GRCm39) |
N66D |
probably damaging |
Het |
| Trim65 |
G |
A |
11: 116,017,305 (GRCm39) |
Q386* |
probably null |
Het |
| Trip4 |
A |
G |
9: 65,765,565 (GRCm39) |
V378A |
probably benign |
Het |
| Vmn2r115 |
A |
C |
17: 23,565,358 (GRCm39) |
Q415P |
probably benign |
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 |
|
|
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'- AGACACTGTGAGGTTCCAGG -3'
(R):5'- TACTTGTGCCCATCACTGG -3'
Sequencing Primer
(F):5'- CTGCAGATAGGGACAGCTTTG -3'
(R):5'- TCACTGGGATCAAAAGACATTAAAG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation