Incidental Mutation 'R4511:Washc2'
ID |
331163 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Washc2
|
Ensembl Gene |
ENSMUSG00000024104 |
Gene Name |
WASH complex subunit 2 |
Synonyms |
C530005J20Rik, D6Wsu116e, Fam21 |
MMRRC Submission |
041586-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4511 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
116184988-116239632 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 116197517 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 250
(D250V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144982
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036759]
[ENSMUST00000203286]
[ENSMUST00000203523]
[ENSMUST00000203928]
[ENSMUST00000204283]
[ENSMUST00000204476]
|
AlphaFold |
Q6PGL7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000036759
AA Change: D250V
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000038983 Gene: ENSMUSG00000024104 AA Change: D250V
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: D164V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000144703 Gene: ENSMUSG00000024104 AA Change: D164V
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: D250V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144982 Gene: ENSMUSG00000024104 AA Change: D250V
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
T |
A |
10: 29,100,819 (GRCm39) |
D397E |
probably benign |
Het |
Abcc10 |
A |
G |
17: 46,618,136 (GRCm39) |
F1005L |
probably damaging |
Het |
Ackr4 |
T |
C |
9: 103,975,930 (GRCm39) |
E339G |
probably benign |
Het |
Adam39 |
G |
T |
8: 41,279,328 (GRCm39) |
C573F |
probably damaging |
Het |
Anks1b |
A |
G |
10: 90,346,652 (GRCm39) |
T651A |
probably benign |
Het |
Aoc1 |
C |
A |
6: 48,884,740 (GRCm39) |
H594Q |
probably damaging |
Het |
Atp4a |
G |
T |
7: 30,423,678 (GRCm39) |
E928* |
probably null |
Het |
Atp5pf |
T |
C |
16: 84,624,862 (GRCm39) |
D104G |
probably benign |
Het |
Atp8b5 |
A |
G |
4: 43,320,629 (GRCm39) |
T206A |
probably damaging |
Het |
Atrn |
G |
A |
2: 130,777,497 (GRCm39) |
W182* |
probably null |
Het |
Bltp2 |
T |
C |
11: 78,168,154 (GRCm39) |
S1530P |
possibly damaging |
Het |
Cacna1e |
G |
A |
1: 154,437,579 (GRCm39) |
T257I |
probably damaging |
Het |
Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
Crebrf |
A |
G |
17: 26,961,938 (GRCm39) |
Y345C |
probably benign |
Het |
Cyp26b1 |
G |
A |
6: 84,551,473 (GRCm39) |
R248W |
probably damaging |
Het |
Dclk3 |
C |
A |
9: 111,297,060 (GRCm39) |
H201Q |
probably benign |
Het |
Ddx17 |
A |
T |
15: 79,422,793 (GRCm39) |
V315E |
probably damaging |
Het |
Dhrs11 |
T |
C |
11: 84,716,342 (GRCm39) |
*51W |
probably null |
Het |
Fgfr4 |
C |
A |
13: 55,309,328 (GRCm39) |
P455Q |
possibly damaging |
Het |
Gabbr1 |
A |
G |
17: 37,380,103 (GRCm39) |
K697E |
probably damaging |
Het |
Gcnt1 |
G |
A |
19: 17,307,641 (GRCm39) |
T28I |
probably benign |
Het |
Gm12185 |
T |
A |
11: 48,799,305 (GRCm39) |
H396L |
possibly damaging |
Het |
Gm21976 |
A |
G |
13: 98,441,839 (GRCm39) |
R123G |
probably benign |
Het |
Hecw1 |
A |
C |
13: 14,531,776 (GRCm39) |
V166G |
probably damaging |
Het |
Hpx |
A |
G |
7: 105,241,295 (GRCm39) |
V372A |
possibly damaging |
Het |
Igkv2-109 |
A |
G |
6: 68,279,962 (GRCm39) |
Y61C |
probably damaging |
Het |
Igsf1 |
A |
G |
X: 48,875,050 (GRCm39) |
F789S |
probably damaging |
Het |
Il4ra |
A |
G |
7: 125,175,280 (GRCm39) |
D496G |
possibly damaging |
Het |
Ilf3 |
A |
G |
9: 21,310,511 (GRCm39) |
T547A |
possibly damaging |
Het |
Insrr |
C |
A |
3: 87,715,978 (GRCm39) |
P558T |
possibly damaging |
Het |
Ints9 |
A |
G |
14: 65,266,381 (GRCm39) |
D411G |
possibly damaging |
Het |
Irak3 |
T |
A |
10: 119,981,813 (GRCm39) |
H393L |
probably damaging |
Het |
Isx |
G |
A |
8: 75,600,298 (GRCm39) |
M10I |
probably benign |
Het |
Itga11 |
A |
G |
9: 62,668,870 (GRCm39) |
D709G |
probably damaging |
Het |
Kcng2 |
G |
T |
18: 80,338,930 (GRCm39) |
R453S |
probably benign |
Het |
Kif5b |
A |
G |
18: 6,214,011 (GRCm39) |
V664A |
probably benign |
Het |
Lalba |
A |
G |
15: 98,380,422 (GRCm39) |
L44P |
probably benign |
Het |
Ldlrad1 |
T |
G |
4: 107,066,715 (GRCm39) |
F17V |
probably benign |
Het |
Lnx1 |
C |
T |
5: 74,780,853 (GRCm39) |
D382N |
probably damaging |
Het |
Lrp1 |
T |
C |
10: 127,429,717 (GRCm39) |
Y451C |
probably damaging |
Het |
Lrp2 |
A |
T |
2: 69,310,406 (GRCm39) |
N2722K |
possibly damaging |
Het |
Mctp1 |
G |
A |
13: 76,973,391 (GRCm39) |
V431I |
probably benign |
Het |
Mmrn2 |
T |
C |
14: 34,125,016 (GRCm39) |
F866L |
possibly damaging |
Het |
Mylk2 |
A |
G |
2: 152,759,330 (GRCm39) |
E367G |
probably damaging |
Het |
Nfatc1 |
A |
G |
18: 80,678,794 (GRCm39) |
S865P |
probably damaging |
Het |
Nol6 |
G |
C |
4: 41,123,526 (GRCm39) |
T74R |
probably damaging |
Het |
Notch2 |
T |
C |
3: 98,053,637 (GRCm39) |
M2100T |
probably benign |
Het |
Parp1 |
A |
G |
1: 180,418,841 (GRCm39) |
K667R |
possibly damaging |
Het |
Phlda3 |
A |
G |
1: 135,694,400 (GRCm39) |
T72A |
probably damaging |
Het |
Polg |
T |
C |
7: 79,105,270 (GRCm39) |
Q758R |
probably benign |
Het |
Polq |
G |
A |
16: 36,868,925 (GRCm39) |
R765H |
probably damaging |
Het |
Pramel19 |
A |
T |
4: 101,798,757 (GRCm39) |
M243L |
probably benign |
Het |
Prkd1 |
T |
C |
12: 50,439,762 (GRCm39) |
D355G |
possibly damaging |
Het |
Prpf8 |
T |
C |
11: 75,382,652 (GRCm39) |
Y398H |
probably damaging |
Het |
Ripk1 |
T |
C |
13: 34,210,731 (GRCm39) |
Y309H |
probably damaging |
Het |
Rngtt |
A |
T |
4: 33,339,032 (GRCm39) |
Q279L |
possibly damaging |
Het |
Rusf1 |
A |
T |
7: 127,875,312 (GRCm39) |
F319Y |
probably damaging |
Het |
Samd4 |
T |
A |
14: 47,315,042 (GRCm39) |
V114D |
probably benign |
Het |
Sec23ip |
G |
A |
7: 128,380,900 (GRCm39) |
E956K |
probably damaging |
Het |
Slc4a1ap |
A |
T |
5: 31,684,747 (GRCm39) |
T128S |
probably benign |
Het |
Slc5a11 |
A |
T |
7: 122,834,858 (GRCm39) |
I6F |
probably benign |
Het |
Slc6a19 |
A |
C |
13: 73,832,094 (GRCm39) |
L494R |
probably damaging |
Het |
Slc6a21 |
A |
G |
7: 44,936,713 (GRCm39) |
D189G |
probably damaging |
Het |
Slc7a1 |
G |
T |
5: 148,277,372 (GRCm39) |
A381D |
probably damaging |
Het |
Smc4 |
T |
A |
3: 68,923,980 (GRCm39) |
|
probably null |
Het |
Stk19 |
T |
C |
17: 35,051,504 (GRCm39) |
E17G |
probably damaging |
Het |
Tekt5 |
A |
C |
16: 10,175,877 (GRCm39) |
V556G |
probably benign |
Het |
Tenm4 |
T |
C |
7: 96,544,070 (GRCm39) |
F2029L |
probably benign |
Het |
Thnsl1 |
T |
C |
2: 21,217,236 (GRCm39) |
V330A |
probably damaging |
Het |
Tnfrsf21 |
A |
G |
17: 43,375,910 (GRCm39) |
D432G |
probably damaging |
Het |
Tnip1 |
T |
A |
11: 54,817,616 (GRCm39) |
S244C |
probably benign |
Het |
Tnrc6c |
A |
T |
11: 117,633,784 (GRCm39) |
N1294I |
possibly damaging |
Het |
Trpm3 |
A |
G |
19: 22,965,381 (GRCm39) |
I1625M |
probably benign |
Het |
Ttn |
A |
T |
2: 76,575,773 (GRCm39) |
V25040E |
probably damaging |
Het |
Vwa5a |
A |
G |
9: 38,633,853 (GRCm39) |
N19D |
possibly damaging |
Het |
Xpo1 |
A |
G |
11: 23,237,401 (GRCm39) |
T755A |
possibly damaging |
Het |
Zfp462 |
C |
T |
4: 55,008,934 (GRCm39) |
T300I |
possibly damaging |
Het |
Zfp937 |
A |
C |
2: 150,080,431 (GRCm39) |
T154P |
probably damaging |
Het |
Zzef1 |
A |
G |
11: 72,778,996 (GRCm39) |
D1819G |
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 |
|
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 |
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'- TCTGGCTACACACAAAAGTAAAGTGTC -3'
Sequencing Primer
(F):5'- GTATGCCAAGTCTCCTAAAAATGAC -3'
(R):5'- AGTGTCGCTATTAAGAAACAATGTG -3'
|
Posted On |
2015-07-21 |