Incidental Mutation 'R3552:Washc2'
| ID |
268992 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Washc2
|
| Ensembl Gene |
ENSMUSG00000024104 |
| Gene Name |
WASH complex subunit 2 |
| Synonyms |
C530005J20Rik, D6Wsu116e, Fam21 |
| MMRRC Submission |
040669-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3552 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
116184988-116239632 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116197529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 168
(D168G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144703
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036759]
[ENSMUST00000203286]
[ENSMUST00000203523]
[ENSMUST00000203928]
[ENSMUST00000204283]
[ENSMUST00000204476]
|
| AlphaFold |
Q6PGL7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036759
AA Change: D254G
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000038983
Gene: ENSMUSG00000024104
AA Change: D254G
| 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 |
probably benign
Transcript: ENSMUST00000203286
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203523
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203802
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203928
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204283
AA Change: D168G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144703
Gene: ENSMUSG00000024104
AA Change: D168G
| 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 damaging
Transcript: ENSMUST00000204476
AA Change: D254G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144982
Gene: ENSMUSG00000024104
AA Change: D254G
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.4%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,152,450 (GRCm39) |
Y866N |
probably damaging |
Het |
| Agk |
A |
G |
6: 40,371,615 (GRCm39) |
T371A |
probably benign |
Het |
| Akna |
T |
C |
4: 63,316,361 (GRCm39) |
M1V |
probably null |
Het |
| Aldh7a1 |
T |
C |
18: 56,683,364 (GRCm39) |
|
probably null |
Het |
| Ankrd26 |
A |
T |
6: 118,484,737 (GRCm39) |
L1500H |
probably damaging |
Het |
| Atp13a5 |
T |
A |
16: 29,129,584 (GRCm39) |
D452V |
probably damaging |
Het |
| Bahcc1 |
C |
T |
11: 120,167,598 (GRCm39) |
T1333M |
possibly damaging |
Het |
| Carmil3 |
G |
T |
14: 55,744,859 (GRCm39) |
R1276L |
possibly damaging |
Het |
| Ccni |
T |
C |
5: 93,335,620 (GRCm39) |
S173G |
probably benign |
Het |
| Chrm2 |
A |
T |
6: 36,500,745 (GRCm39) |
I201F |
probably damaging |
Het |
| Col16a1 |
A |
G |
4: 129,970,834 (GRCm39) |
T618A |
probably benign |
Het |
| Dele1 |
A |
G |
18: 38,391,418 (GRCm39) |
|
probably benign |
Het |
| Dock2 |
T |
C |
11: 34,611,787 (GRCm39) |
Y192C |
probably benign |
Het |
| Ep400 |
T |
A |
5: 110,877,153 (GRCm39) |
E821V |
unknown |
Het |
| Esrrg |
G |
A |
1: 187,882,387 (GRCm39) |
V215I |
probably benign |
Het |
| Evx1 |
A |
T |
6: 52,293,908 (GRCm39) |
S359C |
probably damaging |
Het |
| Fcrl2 |
A |
G |
3: 87,166,717 (GRCm39) |
I92T |
possibly damaging |
Het |
| Gal3st1 |
T |
A |
11: 3,948,110 (GRCm39) |
F106I |
possibly damaging |
Het |
| Gm9944 |
T |
C |
4: 144,179,613 (GRCm39) |
|
probably benign |
Het |
| Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
| Hrc |
G |
C |
7: 44,985,757 (GRCm39) |
E303Q |
possibly damaging |
Het |
| Kcnh1 |
A |
G |
1: 191,921,074 (GRCm39) |
N118D |
probably damaging |
Het |
| Khdrbs1 |
A |
G |
4: 129,614,584 (GRCm39) |
I323T |
possibly damaging |
Het |
| Klhdc7b |
T |
C |
15: 89,271,724 (GRCm39) |
Y869H |
probably benign |
Het |
| Lrrc4c |
T |
A |
2: 97,460,306 (GRCm39) |
W311R |
probably damaging |
Het |
| Megf11 |
A |
G |
9: 64,602,745 (GRCm39) |
D862G |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,415,072 (GRCm39) |
T2673A |
possibly damaging |
Het |
| Muc5b |
A |
G |
7: 141,421,442 (GRCm39) |
S4311G |
probably benign |
Het |
| Myo15a |
C |
T |
11: 60,400,489 (GRCm39) |
A1767V |
possibly damaging |
Het |
| Neo1 |
T |
A |
9: 58,801,161 (GRCm39) |
K1140M |
probably damaging |
Het |
| Oc90 |
T |
C |
15: 65,750,650 (GRCm39) |
Q365R |
possibly damaging |
Het |
| Oplah |
C |
T |
15: 76,186,294 (GRCm39) |
D734N |
possibly damaging |
Het |
| Or1e19 |
T |
C |
11: 73,316,678 (GRCm39) |
I44V |
probably benign |
Het |
| Or4c58 |
A |
C |
2: 89,674,687 (GRCm39) |
M210R |
possibly damaging |
Het |
| Or9g3 |
T |
C |
2: 85,590,237 (GRCm39) |
N161S |
possibly damaging |
Het |
| Pbx1 |
G |
A |
1: 167,986,362 (GRCm39) |
P411L |
possibly damaging |
Het |
| Pcdhga6 |
G |
T |
18: 37,841,270 (GRCm39) |
R330L |
probably benign |
Het |
| Phox2b |
C |
A |
5: 67,254,999 (GRCm39) |
R150L |
probably damaging |
Het |
| Plscr2 |
A |
G |
9: 92,172,848 (GRCm39) |
E169G |
probably damaging |
Het |
| Ptprn2 |
A |
T |
12: 116,852,497 (GRCm39) |
Q518L |
probably benign |
Het |
| Rbl1 |
A |
T |
2: 157,037,505 (GRCm39) |
I214K |
probably benign |
Het |
| Ryr1 |
T |
A |
7: 28,756,422 (GRCm39) |
Q3464L |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,582,132 (GRCm39) |
I2854F |
probably damaging |
Het |
| Shtn1 |
T |
C |
19: 58,963,470 (GRCm39) |
Y615C |
probably benign |
Het |
| Sirt5 |
A |
T |
13: 43,536,643 (GRCm39) |
N226Y |
probably damaging |
Het |
| Slc30a3 |
G |
A |
5: 31,252,422 (GRCm39) |
|
probably benign |
Het |
| Slc5a4b |
A |
G |
10: 75,917,358 (GRCm39) |
V226A |
probably damaging |
Het |
| Slf2 |
C |
A |
19: 44,923,390 (GRCm39) |
S68* |
probably null |
Het |
| Smyd5 |
G |
A |
6: 85,419,193 (GRCm39) |
E292K |
probably damaging |
Het |
| Spns1 |
A |
G |
7: 125,969,543 (GRCm39) |
V512A |
possibly damaging |
Het |
| Sry |
T |
A |
Y: 2,663,141 (GRCm39) |
Q173L |
unknown |
Het |
| Ssrp1 |
C |
A |
2: 84,874,736 (GRCm39) |
Q519K |
probably benign |
Het |
| Tgfbr3 |
T |
C |
5: 107,287,705 (GRCm39) |
E498G |
probably damaging |
Het |
| Tnrc6b |
T |
G |
15: 80,764,448 (GRCm39) |
L650W |
probably damaging |
Het |
| Tnxb |
A |
T |
17: 34,937,695 (GRCm39) |
E3861D |
probably damaging |
Het |
| Trbc1 |
G |
T |
6: 41,516,579 (GRCm39) |
|
probably benign |
Het |
| Trpm7 |
T |
A |
2: 126,668,630 (GRCm39) |
|
probably benign |
Het |
| Usp39 |
G |
A |
6: 72,314,815 (GRCm39) |
T197I |
possibly damaging |
Het |
| Vmn1r38 |
T |
C |
6: 66,753,477 (GRCm39) |
H213R |
possibly damaging |
Het |
| Washc4 |
A |
G |
10: 83,382,720 (GRCm39) |
I45V |
probably benign |
Het |
| Zfp352 |
A |
G |
4: 90,113,339 (GRCm39) |
E493G |
probably benign |
Het |
| Zfp692 |
C |
T |
11: 58,200,254 (GRCm39) |
T170I |
possibly damaging |
Het |
| Zfp735 |
C |
A |
11: 73,602,067 (GRCm39) |
S337* |
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 |
|
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'- TGGTATTTGTATGCCAAGTCTCC -3'
(R):5'- TTGAGGAAGTCATCTACCGTTTACC -3'
Sequencing Primer
(F):5'- GTATGCCAAGTCTCCTAAAAATGAC -3'
(R):5'- GGAAGTCATCTACCGTTTACCTCTGG -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation