Incidental Mutation 'R7048:Washc2'
ID |
547433 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Washc2
|
Ensembl Gene |
ENSMUSG00000024104 |
Gene Name |
WASH complex subunit 2 |
Synonyms |
C530005J20Rik, D6Wsu116e, Fam21 |
MMRRC Submission |
045146-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7048 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
116184988-116239632 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 116197544 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 259
(L259P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144982
(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: L259P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000038983 Gene: ENSMUSG00000024104 AA Change: L259P
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 |
probably benign
Transcript: ENSMUST00000203286
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203523
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203928
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000204283
AA Change: L173P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000144703 Gene: ENSMUSG00000024104 AA Change: L173P
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 |
possibly damaging
Transcript: ENSMUST00000204476
AA Change: L259P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000144982 Gene: ENSMUSG00000024104 AA Change: L259P
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 |
0.1795 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
97% (66/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl2 |
T |
C |
3: 148,552,565 (GRCm39) |
D629G |
probably damaging |
Het |
Akap11 |
T |
A |
14: 78,749,954 (GRCm39) |
Q811L |
|
Het |
Ank2 |
T |
A |
3: 126,819,267 (GRCm39) |
Q468L |
probably benign |
Het |
Ano3 |
A |
T |
2: 110,513,116 (GRCm39) |
Y626* |
probably null |
Het |
Ap1m1 |
A |
G |
8: 73,003,642 (GRCm39) |
N114S |
probably damaging |
Het |
Asb3 |
T |
A |
11: 31,051,121 (GRCm39) |
I525N |
probably damaging |
Het |
Atg4a-ps |
A |
G |
3: 103,552,672 (GRCm39) |
I223T |
probably damaging |
Het |
B3gnt7 |
T |
C |
1: 86,233,308 (GRCm39) |
Y68H |
probably benign |
Het |
Bbs5 |
T |
C |
2: 69,484,705 (GRCm39) |
I125T |
probably benign |
Het |
Cd180 |
A |
G |
13: 102,841,431 (GRCm39) |
N159S |
probably damaging |
Het |
Cd37 |
T |
C |
7: 44,887,888 (GRCm39) |
|
probably benign |
Het |
Cdk14 |
T |
A |
5: 5,143,005 (GRCm39) |
Q242L |
probably damaging |
Het |
Clcn1 |
T |
C |
6: 42,284,477 (GRCm39) |
V605A |
probably damaging |
Het |
Cped1 |
G |
A |
6: 22,119,469 (GRCm39) |
M309I |
probably benign |
Het |
Cyp2r1 |
A |
T |
7: 114,151,971 (GRCm39) |
Y120N |
probably damaging |
Het |
Ddx3y |
A |
T |
Y: 1,279,491 (GRCm39) |
S124R |
probably benign |
Het |
Dlec1 |
A |
T |
9: 118,972,472 (GRCm39) |
|
probably null |
Het |
Dnah17 |
T |
C |
11: 117,936,944 (GRCm39) |
E3420G |
possibly damaging |
Het |
Dnajc13 |
C |
T |
9: 104,080,613 (GRCm39) |
|
probably null |
Het |
Dusp23 |
A |
T |
1: 172,459,253 (GRCm39) |
Y136* |
probably null |
Het |
Eif4b |
A |
G |
15: 102,001,571 (GRCm39) |
|
probably benign |
Het |
F13a1 |
A |
G |
13: 37,082,117 (GRCm39) |
V529A |
probably benign |
Het |
Fhl2 |
A |
G |
1: 43,162,808 (GRCm39) |
Y236H |
probably damaging |
Het |
Gm826 |
C |
T |
2: 160,169,026 (GRCm39) |
W94* |
probably null |
Het |
Gpsm2 |
C |
T |
3: 108,610,361 (GRCm39) |
R33H |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,475,404 (GRCm39) |
|
probably null |
Het |
Ifit1bl2 |
T |
C |
19: 34,596,551 (GRCm39) |
D355G |
probably benign |
Het |
Itga8 |
A |
G |
2: 12,115,895 (GRCm39) |
V77A |
probably damaging |
Het |
Kcmf1 |
C |
T |
6: 72,826,450 (GRCm39) |
R40K |
probably damaging |
Het |
Kdm7a |
T |
C |
6: 39,145,982 (GRCm39) |
E315G |
probably damaging |
Het |
Kmt2b |
C |
T |
7: 30,268,731 (GRCm39) |
G2666D |
probably damaging |
Het |
Lrrtm1 |
A |
G |
6: 77,221,152 (GRCm39) |
N203S |
probably damaging |
Het |
Mdn1 |
A |
G |
4: 32,767,969 (GRCm39) |
N5301D |
probably benign |
Het |
Mest |
T |
G |
6: 30,742,723 (GRCm39) |
H108Q |
probably damaging |
Het |
Mettl25b |
A |
G |
3: 87,837,167 (GRCm39) |
I36T |
probably damaging |
Het |
Moxd1 |
C |
A |
10: 24,157,374 (GRCm39) |
D335E |
probably damaging |
Het |
Ncf2 |
A |
C |
1: 152,683,921 (GRCm39) |
N47H |
probably benign |
Het |
Npc1 |
A |
G |
18: 12,337,822 (GRCm39) |
|
probably null |
Het |
Or14j2 |
A |
T |
17: 37,886,114 (GRCm39) |
S67T |
probably damaging |
Het |
Pcid2 |
A |
G |
8: 13,128,243 (GRCm39) |
V386A |
probably benign |
Het |
Phactr2 |
T |
A |
10: 13,121,168 (GRCm39) |
T444S |
probably benign |
Het |
Plekha7 |
T |
C |
7: 115,747,559 (GRCm39) |
N710D |
probably benign |
Het |
Ppp1r16b |
C |
T |
2: 158,599,174 (GRCm39) |
T382I |
probably benign |
Het |
Pramel15 |
T |
C |
4: 144,103,754 (GRCm39) |
D124G |
probably benign |
Het |
Ptprz1 |
A |
T |
6: 22,961,622 (GRCm39) |
Y111F |
probably benign |
Het |
Rbbp8 |
A |
G |
18: 11,865,277 (GRCm39) |
E722G |
possibly damaging |
Het |
Rimbp3 |
A |
G |
16: 17,028,190 (GRCm39) |
D538G |
probably benign |
Het |
Rims1 |
A |
G |
1: 22,511,901 (GRCm39) |
S551P |
probably damaging |
Het |
Rsrc1 |
A |
G |
3: 67,088,164 (GRCm39) |
D166G |
probably damaging |
Het |
Selenon |
T |
C |
4: 134,270,154 (GRCm39) |
N350S |
probably benign |
Het |
Sh3gl2 |
T |
A |
4: 85,295,802 (GRCm39) |
L168H |
probably damaging |
Het |
Smc3 |
T |
C |
19: 53,617,682 (GRCm39) |
Y560H |
probably benign |
Het |
Syce1 |
C |
T |
7: 140,359,281 (GRCm39) |
D147N |
possibly damaging |
Het |
Syt10 |
A |
C |
15: 89,675,008 (GRCm39) |
V446G |
probably damaging |
Het |
Taar1 |
T |
C |
10: 23,796,722 (GRCm39) |
L140P |
probably benign |
Het |
Tfpi2 |
C |
A |
6: 3,968,032 (GRCm39) |
C36F |
probably damaging |
Het |
Thoc5 |
G |
A |
11: 4,876,237 (GRCm39) |
|
probably null |
Het |
Tnrc6c |
T |
A |
11: 117,612,800 (GRCm39) |
N319K |
probably benign |
Het |
Trhr2 |
C |
T |
8: 123,085,418 (GRCm39) |
D189N |
probably damaging |
Het |
Trim42 |
A |
T |
9: 97,245,474 (GRCm39) |
F442Y |
probably damaging |
Het |
Ubap2 |
G |
A |
4: 41,196,033 (GRCm39) |
T949I |
possibly damaging |
Het |
Ugt1a8 |
T |
C |
1: 88,016,024 (GRCm39) |
F146L |
probably benign |
Het |
Vmn2r80 |
C |
A |
10: 79,030,153 (GRCm39) |
Q660K |
probably damaging |
Het |
Vstm2b |
C |
T |
7: 40,578,800 (GRCm39) |
T258I |
possibly damaging |
Het |
Zscan18 |
A |
T |
7: 12,508,671 (GRCm39) |
|
probably benign |
Het |
Zzef1 |
T |
G |
11: 72,757,525 (GRCm39) |
Y1193* |
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 |
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 |
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'- TAGGGTCCTAGGCATGTTCG -3'
(R):5'- GAGGAAGTCATCTACCGTTTACCTC -3'
Sequencing Primer
(F):5'- TCCTAGGCATGTTCGGCGAG -3'
(R):5'- GTTTACCTCTGGCTACACACAAAAG -3'
|
Posted On |
2019-05-13 |