Incidental Mutation 'R5602:Washc2'
ID |
439073 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Washc2
|
Ensembl Gene |
ENSMUSG00000024104 |
Gene Name |
WASH complex subunit 2 |
Synonyms |
C530005J20Rik, D6Wsu116e, Fam21 |
MMRRC Submission |
043154-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5602 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
116184988-116239632 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 116225056 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 801
(D801E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144982
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036759]
[ENSMUST00000204283]
[ENSMUST00000204476]
|
AlphaFold |
Q6PGL7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036759
AA Change: D801E
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000038983 Gene: ENSMUSG00000024104 AA Change: D801E
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 |
probably benign
Transcript: ENSMUST00000204283
AA Change: D715E
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000144703 Gene: ENSMUSG00000024104 AA Change: D715E
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: D801E
PolyPhen 2
Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000144982 Gene: ENSMUSG00000024104 AA Change: D801E
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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921509C19Rik |
G |
A |
2: 151,315,459 (GRCm39) |
S73F |
possibly damaging |
Het |
4932414N04Rik |
A |
T |
2: 68,578,712 (GRCm39) |
*753L |
probably null |
Het |
Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
Adam19 |
T |
C |
11: 46,027,142 (GRCm39) |
S592P |
probably benign |
Het |
Adamtsl3 |
A |
G |
7: 82,206,447 (GRCm39) |
K843R |
possibly damaging |
Het |
Ap2a2 |
A |
T |
7: 141,184,855 (GRCm39) |
T213S |
probably benign |
Het |
Asb5 |
A |
G |
8: 55,038,974 (GRCm39) |
E280G |
probably benign |
Het |
Becn1 |
T |
C |
11: 101,179,778 (GRCm39) |
D403G |
probably damaging |
Het |
Ccr7 |
G |
T |
11: 99,036,315 (GRCm39) |
N202K |
probably benign |
Het |
Cd36 |
T |
C |
5: 18,019,790 (GRCm39) |
T104A |
possibly damaging |
Het |
Cnot4 |
C |
T |
6: 35,028,464 (GRCm39) |
W384* |
probably null |
Het |
Col15a1 |
G |
A |
4: 47,312,087 (GRCm39) |
V1301M |
probably damaging |
Het |
Dock2 |
C |
A |
11: 34,204,391 (GRCm39) |
A1384S |
probably benign |
Het |
Ehbp1l1 |
T |
C |
19: 5,758,698 (GRCm39) |
E1648G |
possibly damaging |
Het |
Fbn1 |
G |
T |
2: 125,163,661 (GRCm39) |
A2065E |
possibly damaging |
Het |
Fras1 |
A |
G |
5: 96,884,880 (GRCm39) |
Y2586C |
probably damaging |
Het |
Galm |
T |
A |
17: 80,457,568 (GRCm39) |
Y28* |
probably null |
Het |
Ggt7 |
A |
G |
2: 155,332,919 (GRCm39) |
V648A |
possibly damaging |
Het |
Gm17067 |
T |
A |
7: 42,357,839 (GRCm39) |
D221V |
probably damaging |
Het |
Gpr3 |
T |
C |
4: 132,937,805 (GRCm39) |
N289S |
probably damaging |
Het |
Ighv11-2 |
A |
G |
12: 114,012,277 (GRCm39) |
|
probably benign |
Het |
Ighv11-2 |
G |
A |
12: 114,012,099 (GRCm39) |
L39F |
probably damaging |
Het |
Ipo9 |
G |
A |
1: 135,329,983 (GRCm39) |
L486F |
probably damaging |
Het |
Jak2 |
T |
A |
19: 29,275,739 (GRCm39) |
N726K |
probably benign |
Het |
Map4 |
T |
C |
9: 109,881,768 (GRCm39) |
S211P |
possibly damaging |
Het |
Mlh1 |
A |
T |
9: 111,081,946 (GRCm39) |
L259Q |
probably damaging |
Het |
Naa25 |
A |
G |
5: 121,558,558 (GRCm39) |
E300G |
probably benign |
Het |
Or8g34 |
A |
T |
9: 39,373,326 (GRCm39) |
M200L |
probably benign |
Het |
Or8g54 |
T |
A |
9: 39,707,490 (GRCm39) |
V273E |
possibly damaging |
Het |
Parva |
G |
A |
7: 112,166,972 (GRCm39) |
V182I |
probably benign |
Het |
Pcdhgb4 |
T |
C |
18: 37,854,697 (GRCm39) |
I364T |
probably damaging |
Het |
Pdik1l |
A |
G |
4: 134,011,580 (GRCm39) |
S164P |
probably damaging |
Het |
Pfas |
A |
T |
11: 68,881,871 (GRCm39) |
I938N |
probably benign |
Het |
Plscr1l1 |
G |
A |
9: 92,234,721 (GRCm39) |
C152Y |
possibly damaging |
Het |
Prdm4 |
TCTCCTCCT |
TCTCCT |
10: 85,728,987 (GRCm39) |
|
probably null |
Het |
Prob1 |
C |
T |
18: 35,787,079 (GRCm39) |
V392M |
possibly damaging |
Het |
Rasgrf1 |
T |
C |
9: 89,793,624 (GRCm39) |
S134P |
possibly damaging |
Het |
Rorb |
T |
A |
19: 18,955,301 (GRCm39) |
Y20F |
probably damaging |
Het |
Rsph9 |
G |
T |
17: 46,445,909 (GRCm39) |
D220E |
probably damaging |
Het |
Safb2 |
C |
A |
17: 56,882,630 (GRCm39) |
K334N |
possibly damaging |
Het |
Sall3 |
T |
C |
18: 81,016,027 (GRCm39) |
T634A |
probably benign |
Het |
Scaf1 |
A |
G |
7: 44,657,007 (GRCm39) |
|
probably benign |
Het |
Slco1a5 |
T |
A |
6: 142,221,255 (GRCm39) |
|
probably benign |
Het |
Spata21 |
C |
T |
4: 140,824,210 (GRCm39) |
R158C |
probably benign |
Het |
Srrm2 |
G |
A |
17: 24,038,311 (GRCm39) |
|
probably benign |
Het |
Stk38l |
C |
A |
6: 146,659,998 (GRCm39) |
T10N |
probably benign |
Het |
Supv3l1 |
G |
A |
10: 62,266,371 (GRCm39) |
P602S |
possibly damaging |
Het |
Timm44 |
C |
T |
8: 4,316,769 (GRCm39) |
|
probably null |
Het |
Tll2 |
T |
A |
19: 41,093,420 (GRCm39) |
R465S |
possibly damaging |
Het |
Tmem104 |
G |
A |
11: 115,095,950 (GRCm39) |
A164T |
probably damaging |
Het |
Tmem151b |
A |
G |
17: 45,856,526 (GRCm39) |
S305P |
probably damaging |
Het |
Utrn |
T |
C |
10: 12,625,839 (GRCm39) |
D114G |
probably damaging |
Het |
Vmn2r109 |
A |
T |
17: 20,760,933 (GRCm39) |
M808K |
possibly damaging |
Het |
Xkr4 |
T |
C |
1: 3,286,751 (GRCm39) |
I480V |
probably benign |
Het |
Zfp507 |
G |
T |
7: 35,475,663 (GRCm39) |
S58* |
probably null |
Het |
Zfp768 |
T |
A |
7: 126,943,804 (GRCm39) |
D108V |
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 |
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 |
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'- TTGTCAAGCTTGTGAAGACCC -3'
(R):5'- TAAAAGCTCAGACTTCCTCAGGC -3'
Sequencing Primer
(F):5'- TCAAGCTTGTGAAGACCCCATGG -3'
(R):5'- AGACTTCCTCAGGCCTCAG -3'
|
Posted On |
2016-10-26 |