Incidental Mutation 'R6013:Washc2'
| ID |
479846 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Washc2
|
| Ensembl Gene |
ENSMUSG00000024104 |
| Gene Name |
WASH complex subunit 2 |
| Synonyms |
C530005J20Rik, D6Wsu116e, Fam21 |
| MMRRC Submission |
044189-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6013 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
116184988-116239632 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116231114 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 844
(S844G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144982
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036759]
[ENSMUST00000204283]
[ENSMUST00000204476]
|
| AlphaFold |
Q6PGL7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036759
AA Change: S844G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000038983
Gene: ENSMUSG00000024104
AA Change: S844G
| 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 damaging
Transcript: ENSMUST00000204283
AA Change: S758G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144703
Gene: ENSMUSG00000024104
AA Change: S758G
| 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: S844G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144982
Gene: ENSMUSG00000024104
AA Change: S844G
| 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 |
0.0803 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
98% (54/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700008P02Rik |
C |
T |
3: 6,682,310 (GRCm39) |
|
probably null |
Het |
| Aanat |
A |
T |
11: 116,486,950 (GRCm39) |
|
probably null |
Het |
| Abca17 |
A |
T |
17: 24,506,820 (GRCm39) |
V1178E |
possibly damaging |
Het |
| Abcf3 |
T |
A |
16: 20,369,311 (GRCm39) |
|
probably null |
Het |
| Alk |
A |
G |
17: 72,207,732 (GRCm39) |
M1001T |
probably benign |
Het |
| Arhgap23 |
C |
A |
11: 97,391,818 (GRCm39) |
S1445Y |
probably damaging |
Het |
| Atp10a |
T |
C |
7: 58,447,538 (GRCm39) |
I760T |
probably benign |
Het |
| Cadm1 |
C |
T |
9: 47,768,572 (GRCm39) |
|
probably benign |
Het |
| Car10 |
A |
T |
11: 93,076,105 (GRCm39) |
|
probably benign |
Het |
| Casq2 |
G |
T |
3: 102,052,945 (GRCm39) |
|
probably null |
Het |
| Cemip2 |
G |
A |
19: 21,809,403 (GRCm39) |
V928I |
possibly damaging |
Het |
| Clec4f |
T |
C |
6: 83,632,070 (GRCm39) |
I55V |
probably benign |
Het |
| Cngb1 |
T |
C |
8: 96,010,949 (GRCm39) |
|
probably benign |
Het |
| Csn1s2b |
A |
G |
5: 87,972,098 (GRCm39) |
|
probably null |
Het |
| Cyp2c39 |
A |
C |
19: 39,501,969 (GRCm39) |
R119S |
probably benign |
Het |
| Cyp4f16 |
C |
T |
17: 32,765,652 (GRCm39) |
A345V |
probably null |
Het |
| Ddx43 |
T |
C |
9: 78,321,567 (GRCm39) |
L412S |
probably damaging |
Het |
| Dnajb12 |
G |
A |
10: 59,730,163 (GRCm39) |
|
probably null |
Het |
| Ephx2 |
A |
G |
14: 66,347,691 (GRCm39) |
S56P |
probably benign |
Het |
| Fam83h |
A |
G |
15: 75,875,849 (GRCm39) |
F496S |
probably damaging |
Het |
| Gcnt4 |
T |
C |
13: 97,083,786 (GRCm39) |
S361P |
possibly damaging |
Het |
| H2-T23 |
G |
T |
17: 36,341,474 (GRCm39) |
H332Q |
probably benign |
Het |
| Hrob |
T |
C |
11: 102,145,859 (GRCm39) |
V45A |
probably benign |
Het |
| Ift57 |
G |
T |
16: 49,519,667 (GRCm39) |
|
probably null |
Het |
| Il1rl2 |
A |
G |
1: 40,391,017 (GRCm39) |
H320R |
possibly damaging |
Het |
| Kansl1 |
A |
G |
11: 104,241,465 (GRCm39) |
V618A |
probably benign |
Het |
| Kctd3 |
T |
C |
1: 188,728,665 (GRCm39) |
E157G |
probably benign |
Het |
| Magohb |
T |
A |
6: 131,270,037 (GRCm39) |
D31V |
possibly damaging |
Het |
| Mdn1 |
C |
A |
4: 32,715,713 (GRCm39) |
F1993L |
probably damaging |
Het |
| Med29 |
C |
A |
7: 28,086,418 (GRCm39) |
C130F |
probably benign |
Het |
| Mtmr7 |
G |
A |
8: 41,034,570 (GRCm39) |
R251C |
probably damaging |
Het |
| Ncor1 |
T |
C |
11: 62,211,903 (GRCm39) |
I49V |
probably benign |
Het |
| Nfkb1 |
G |
T |
3: 135,332,445 (GRCm39) |
T109K |
possibly damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,819,452 (GRCm39) |
|
probably null |
Het |
| Pkp1 |
T |
A |
1: 135,811,648 (GRCm39) |
T408S |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,073,510 (GRCm39) |
D501E |
possibly damaging |
Het |
| Prcp |
A |
C |
7: 92,576,976 (GRCm39) |
Y335S |
possibly damaging |
Het |
| Reg2 |
T |
A |
6: 78,384,952 (GRCm39) |
Y165N |
possibly damaging |
Het |
| Rnf7 |
T |
C |
9: 96,353,787 (GRCm39) |
*114W |
probably null |
Het |
| Scg3 |
T |
C |
9: 75,584,090 (GRCm39) |
D137G |
probably damaging |
Het |
| Serpinb7 |
T |
C |
1: 107,377,919 (GRCm39) |
V204A |
probably benign |
Het |
| Sez6 |
C |
T |
11: 77,864,623 (GRCm39) |
H528Y |
probably damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,039,457 (GRCm39) |
S723T |
probably damaging |
Het |
| Shtn1 |
T |
C |
19: 58,963,533 (GRCm39) |
D594G |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,063,904 (GRCm39) |
L2174P |
probably damaging |
Het |
| Stk25 |
A |
G |
1: 93,553,181 (GRCm39) |
|
probably null |
Het |
| Tep1 |
A |
T |
14: 51,098,505 (GRCm39) |
F429I |
probably damaging |
Het |
| Thada |
T |
A |
17: 84,580,228 (GRCm39) |
I1409F |
probably benign |
Het |
| Usp25 |
G |
A |
16: 76,873,909 (GRCm39) |
G495E |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,341,287 (GRCm39) |
H1176L |
possibly damaging |
Het |
| Ypel1 |
T |
C |
16: 16,918,129 (GRCm39) |
N96D |
probably damaging |
Het |
| Zfand6 |
C |
A |
7: 84,281,900 (GRCm39) |
V110L |
probably benign |
Het |
| Zfp30 |
A |
G |
7: 29,488,846 (GRCm39) |
R8G |
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 |
|
R5602:Washc2
|
UTSW |
6 |
116,225,056 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
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'- CTTACCATCACTATTTTGGGAAGC -3'
(R):5'- ATCAATTCCCACAGGGCTG -3'
Sequencing Primer
(F):5'- TACCAGGGGATGTCTTTG -3'
(R):5'- GTGAGCCACACCACCTC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation