Incidental Mutation 'R4794:Washc2'
| ID |
368850 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Washc2
|
| Ensembl Gene |
ENSMUSG00000024104 |
| Gene Name |
WASH complex subunit 2 |
| Synonyms |
C530005J20Rik, D6Wsu116e, Fam21 |
| MMRRC Submission |
042420-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4794 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
116184988-116239632 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116235610 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 941
(V941A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144703
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036759]
[ENSMUST00000204283]
[ENSMUST00000204476]
|
| AlphaFold |
Q6PGL7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036759
AA Change: V1027A
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000038983
Gene: ENSMUSG00000024104
AA Change: V1027A
| 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 benign
Transcript: ENSMUST00000204283
AA Change: V941A
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000144703
Gene: ENSMUSG00000024104
AA Change: V941A
| 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 |
0.0851 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.5%
|
| Validation Efficiency |
97% (75/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam4 |
A |
T |
12: 81,468,198 (GRCm39) |
I141K |
probably damaging |
Het |
| Adgrb1 |
A |
G |
15: 74,459,978 (GRCm39) |
E537G |
probably damaging |
Het |
| Asic3 |
C |
T |
5: 24,620,895 (GRCm39) |
A259V |
probably damaging |
Het |
| Bcar1 |
G |
A |
8: 112,447,552 (GRCm39) |
Q142* |
probably null |
Het |
| Bcas3 |
T |
C |
11: 85,400,294 (GRCm39) |
V200A |
probably damaging |
Het |
| Cd302 |
A |
T |
2: 60,102,493 (GRCm39) |
I42N |
probably benign |
Het |
| Colec12 |
C |
A |
18: 9,848,984 (GRCm39) |
N387K |
probably damaging |
Het |
| Copa |
T |
A |
1: 171,946,888 (GRCm39) |
I1032N |
probably damaging |
Het |
| D630003M21Rik |
G |
C |
2: 158,038,059 (GRCm39) |
T1129S |
probably benign |
Het |
| D630045J12Rik |
G |
A |
6: 38,171,420 (GRCm39) |
T916I |
possibly damaging |
Het |
| Dnajb13 |
C |
T |
7: 100,153,199 (GRCm39) |
A241T |
probably damaging |
Het |
| Dyrk4 |
G |
T |
6: 126,862,300 (GRCm39) |
N397K |
possibly damaging |
Het |
| Eftud2 |
T |
A |
11: 102,761,003 (GRCm39) |
Y114F |
probably benign |
Het |
| Elp1 |
ACTTCTTCTTCTTCTTCTTCTTC |
ACTTCTTCTTCTTCTTCTTC |
4: 56,781,176 (GRCm39) |
|
probably benign |
Het |
| Epm2a |
A |
G |
10: 11,266,597 (GRCm39) |
D114G |
probably benign |
Het |
| Exoc5 |
T |
C |
14: 49,286,357 (GRCm39) |
|
probably null |
Het |
| Fam135a |
G |
A |
1: 24,068,241 (GRCm39) |
T706I |
probably benign |
Het |
| Fasn |
A |
G |
11: 120,702,121 (GRCm39) |
V1845A |
probably benign |
Het |
| Fscn3 |
A |
G |
6: 28,430,595 (GRCm39) |
E255G |
probably damaging |
Het |
| Galnt7 |
A |
T |
8: 57,998,397 (GRCm39) |
Y311N |
probably damaging |
Het |
| Grid1 |
T |
C |
14: 34,544,579 (GRCm39) |
L50P |
probably damaging |
Het |
| Hepacam2 |
A |
G |
6: 3,475,933 (GRCm39) |
F331L |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kif1a |
T |
C |
1: 92,953,449 (GRCm39) |
Y1245C |
probably damaging |
Het |
| Ltbp3 |
T |
C |
19: 5,806,707 (GRCm39) |
F1022L |
probably damaging |
Het |
| Med16 |
G |
T |
10: 79,735,951 (GRCm39) |
T399N |
probably damaging |
Het |
| Mfsd14a |
A |
T |
3: 116,439,155 (GRCm39) |
|
probably benign |
Het |
| Myh7b |
G |
A |
2: 155,465,186 (GRCm39) |
V681I |
probably benign |
Het |
| Ndc1 |
A |
G |
4: 107,247,419 (GRCm39) |
E409G |
probably benign |
Het |
| Necap2 |
A |
G |
4: 140,798,912 (GRCm39) |
|
probably benign |
Het |
| Or2a57 |
T |
A |
6: 43,212,629 (GRCm39) |
L29H |
probably damaging |
Het |
| Or4p21 |
A |
T |
2: 88,276,691 (GRCm39) |
M197K |
probably benign |
Het |
| Or7g29 |
C |
T |
9: 19,286,841 (GRCm39) |
S112N |
probably benign |
Het |
| Parp12 |
G |
A |
6: 39,094,744 (GRCm39) |
T117I |
probably benign |
Het |
| Pars2 |
C |
A |
4: 106,511,407 (GRCm39) |
C396* |
probably null |
Het |
| Prg4 |
A |
T |
1: 150,330,297 (GRCm39) |
|
probably benign |
Het |
| Prkg2 |
G |
A |
5: 99,114,492 (GRCm39) |
T523I |
probably damaging |
Het |
| Prph |
T |
A |
15: 98,955,308 (GRCm39) |
L425Q |
probably damaging |
Het |
| Ranbp9 |
A |
G |
13: 43,567,552 (GRCm39) |
Y549H |
probably damaging |
Het |
| Rbm12 |
A |
T |
2: 155,937,489 (GRCm39) |
|
probably benign |
Het |
| Reln |
T |
C |
5: 22,549,183 (GRCm39) |
Y75C |
probably damaging |
Het |
| Rock2 |
G |
A |
12: 16,990,408 (GRCm39) |
R110H |
probably damaging |
Het |
| Samd1 |
G |
A |
8: 84,726,346 (GRCm39) |
E468K |
probably damaging |
Het |
| Samd11 |
T |
A |
4: 156,333,922 (GRCm39) |
Q173L |
probably damaging |
Het |
| Scgb2b20 |
C |
A |
7: 33,065,151 (GRCm39) |
G37V |
probably damaging |
Het |
| Sf1 |
C |
A |
19: 6,425,694 (GRCm39) |
|
probably benign |
Het |
| Slc17a5 |
T |
A |
9: 78,481,997 (GRCm39) |
H183L |
probably damaging |
Het |
| Slco1a7 |
A |
G |
6: 141,713,288 (GRCm39) |
V31A |
probably benign |
Het |
| Smgc |
T |
A |
15: 91,725,657 (GRCm39) |
S13T |
probably benign |
Het |
| Snapin |
A |
G |
3: 90,398,092 (GRCm39) |
|
probably benign |
Het |
| Spata31e4 |
C |
G |
13: 50,857,275 (GRCm39) |
P971R |
probably benign |
Het |
| Ssc5d |
C |
T |
7: 4,946,744 (GRCm39) |
P1033S |
probably benign |
Het |
| Strn3 |
T |
C |
12: 51,696,954 (GRCm39) |
E259G |
probably benign |
Het |
| Tbc1d32 |
A |
G |
10: 56,072,932 (GRCm39) |
F238L |
possibly damaging |
Het |
| Tbck |
G |
A |
3: 132,392,729 (GRCm39) |
V57M |
possibly damaging |
Het |
| Tgm3 |
A |
G |
2: 129,883,875 (GRCm39) |
D511G |
probably benign |
Het |
| Tlr5 |
T |
C |
1: 182,801,461 (GRCm39) |
V241A |
probably benign |
Het |
| Tmem181c-ps |
A |
G |
17: 6,887,754 (GRCm39) |
|
noncoding transcript |
Het |
| Tnfrsf1a |
G |
A |
6: 125,335,047 (GRCm39) |
C168Y |
probably damaging |
Het |
| Tph2 |
G |
T |
10: 115,018,675 (GRCm39) |
L79I |
possibly damaging |
Het |
| Tsc1 |
G |
A |
2: 28,551,702 (GRCm39) |
|
probably null |
Het |
| Ttc14 |
A |
T |
3: 33,857,298 (GRCm39) |
M215L |
probably benign |
Het |
| Ube3c |
A |
G |
5: 29,802,083 (GRCm39) |
N120S |
probably benign |
Het |
| Ubr2 |
A |
T |
17: 47,241,371 (GRCm39) |
W1728R |
probably damaging |
Het |
| Vnn1 |
A |
G |
10: 23,776,602 (GRCm39) |
T318A |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,091,809 (GRCm39) |
V510A |
probably damaging |
Het |
| Wdsub1 |
A |
T |
2: 59,693,188 (GRCm39) |
V272E |
possibly damaging |
Het |
| Xylt1 |
A |
C |
7: 117,236,862 (GRCm39) |
D537A |
probably benign |
Het |
| Zfp57 |
A |
G |
17: 37,321,022 (GRCm39) |
N292S |
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 |
|
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 |
|
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'- GCCAGCTCCTTTAGGAACAG -3'
(R):5'- CGGCTGCAGATAAAACAGGTCC -3'
Sequencing Primer
(F):5'- CAGGGTCACATATCAGATATCCTG -3'
(R):5'- AGAGCTGGTCTGTCCACTG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation