Incidental Mutation 'R5224:Washc2'
| ID |
402492 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Washc2
|
| Ensembl Gene |
ENSMUSG00000024104 |
| Gene Name |
WASH complex subunit 2 |
| Synonyms |
C530005J20Rik, D6Wsu116e, Fam21 |
| MMRRC Submission |
042797-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5224 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
116184988-116239632 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to G
at 116185965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Glycine
at position 58
(*58G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036759]
[ENSMUST00000203286]
[ENSMUST00000203523]
[ENSMUST00000204051]
[ENSMUST00000204283]
[ENSMUST00000204476]
|
| AlphaFold |
Q6PGL7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036759
AA Change: H58Q
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000038983
Gene: ENSMUSG00000024104
AA Change: H58Q
| 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 null
Transcript: ENSMUST00000203286
AA Change: *58G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203332
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000203523
AA Change: *58G
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203802
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204051
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204283
|
| SMART Domains |
Protein: ENSMUSP00000144703
Gene: ENSMUSG00000024104
| 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: H58Q
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000144982
Gene: ENSMUSG00000024104
AA Change: H58Q
| 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: ENSMUST00000204446
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
98% (58/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
CGTGACCTTTCTGGT |
CGT |
10: 85,481,386 (GRCm39) |
|
probably benign |
Het |
| Ahi1 |
A |
G |
10: 20,862,921 (GRCm39) |
S699G |
probably damaging |
Het |
| Atp10d |
C |
T |
5: 72,426,669 (GRCm39) |
A959V |
probably benign |
Het |
| Axl |
T |
C |
7: 25,486,369 (GRCm39) |
M112V |
probably benign |
Het |
| Brd10 |
A |
T |
19: 29,696,450 (GRCm39) |
S1014R |
possibly damaging |
Het |
| Camk1g |
A |
T |
1: 193,037,342 (GRCm39) |
D119E |
probably damaging |
Het |
| Capn8 |
A |
C |
1: 182,424,554 (GRCm39) |
N117T |
probably damaging |
Het |
| Cct3 |
G |
A |
3: 88,204,532 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,752,080 (GRCm39) |
T1293A |
possibly damaging |
Het |
| Depdc1b |
A |
G |
13: 108,521,354 (GRCm39) |
D387G |
probably damaging |
Het |
| Dtx3l |
A |
G |
16: 35,759,163 (GRCm39) |
Y29H |
possibly damaging |
Het |
| Erp44 |
A |
T |
4: 48,279,435 (GRCm39) |
N2K |
probably benign |
Het |
| Fmn1 |
A |
G |
2: 113,195,470 (GRCm39) |
E390G |
unknown |
Het |
| Ganab |
T |
A |
19: 8,887,955 (GRCm39) |
D396E |
probably benign |
Het |
| Gatd3a |
A |
G |
10: 77,999,367 (GRCm39) |
V148A |
probably damaging |
Het |
| Gcc2 |
T |
A |
10: 58,121,982 (GRCm39) |
S1140T |
probably damaging |
Het |
| Gm7008 |
T |
C |
12: 40,273,342 (GRCm39) |
|
probably benign |
Het |
| Gphn |
T |
A |
12: 78,637,361 (GRCm39) |
F354I |
probably damaging |
Het |
| H2-T7 |
G |
A |
17: 36,454,231 (GRCm39) |
|
noncoding transcript |
Het |
| Hnrnpul1 |
G |
A |
7: 25,444,600 (GRCm39) |
T236M |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,068,149 (GRCm39) |
M2410L |
probably benign |
Het |
| Jaml |
T |
A |
9: 45,015,564 (GRCm39) |
M356K |
probably damaging |
Het |
| Kbtbd12 |
T |
A |
6: 88,594,681 (GRCm39) |
|
probably benign |
Het |
| Ldlrad3 |
G |
T |
2: 101,943,954 (GRCm39) |
N39K |
probably damaging |
Het |
| Lrp1b |
G |
A |
2: 41,000,852 (GRCm39) |
T2238I |
possibly damaging |
Het |
| Lypd8 |
T |
A |
11: 58,277,634 (GRCm39) |
C139S |
possibly damaging |
Het |
| Masp1 |
G |
T |
16: 23,313,445 (GRCm39) |
H163Q |
probably damaging |
Het |
| Mpo |
T |
C |
11: 87,687,283 (GRCm39) |
|
probably benign |
Het |
| Muc19 |
A |
T |
15: 91,825,910 (GRCm39) |
|
noncoding transcript |
Het |
| Muc5ac |
T |
A |
7: 141,347,708 (GRCm39) |
S438T |
probably benign |
Het |
| Nav2 |
T |
C |
7: 49,201,473 (GRCm39) |
V160A |
probably benign |
Het |
| Nlrc5 |
G |
T |
8: 95,220,944 (GRCm39) |
A1128S |
probably benign |
Het |
| Nlrp5 |
T |
A |
7: 23,117,401 (GRCm39) |
L375Q |
probably damaging |
Het |
| Nlrp9a |
A |
G |
7: 26,256,717 (GRCm39) |
T112A |
probably benign |
Het |
| Nppa |
T |
C |
4: 148,085,773 (GRCm39) |
S127P |
probably damaging |
Het |
| Or8k24 |
A |
G |
2: 86,216,193 (GRCm39) |
S190P |
possibly damaging |
Het |
| Osbpl1a |
T |
C |
18: 13,066,753 (GRCm39) |
N2S |
probably benign |
Het |
| Otoa |
A |
G |
7: 120,739,016 (GRCm39) |
T742A |
probably damaging |
Het |
| Pcdh10 |
A |
G |
3: 45,347,249 (GRCm39) |
R1015G |
probably damaging |
Het |
| Pdzrn3 |
C |
T |
6: 101,130,272 (GRCm39) |
D515N |
probably damaging |
Het |
| Plpp1 |
T |
A |
13: 112,988,046 (GRCm39) |
Y56* |
probably null |
Het |
| Ppp1r12a |
A |
G |
10: 108,096,886 (GRCm39) |
T236A |
probably benign |
Het |
| Rhag |
T |
C |
17: 41,139,395 (GRCm39) |
L110P |
probably damaging |
Het |
| Scn11a |
T |
A |
9: 119,583,858 (GRCm39) |
N1586Y |
probably damaging |
Het |
| Sgms2 |
T |
A |
3: 131,135,766 (GRCm39) |
K36I |
probably damaging |
Het |
| Slc22a2 |
A |
G |
17: 12,805,719 (GRCm39) |
N157D |
probably damaging |
Het |
| Stx19 |
T |
G |
16: 62,642,937 (GRCm39) |
M251R |
probably benign |
Het |
| Suco |
A |
G |
1: 161,662,274 (GRCm39) |
I719T |
probably benign |
Het |
| Tnr |
A |
G |
1: 159,750,885 (GRCm39) |
D1282G |
probably damaging |
Het |
| Tram1 |
T |
C |
1: 13,648,349 (GRCm39) |
R154G |
probably benign |
Het |
| Ubtfl1 |
G |
T |
9: 18,321,326 (GRCm39) |
V285L |
probably benign |
Het |
| Ugt2b38 |
A |
G |
5: 87,571,601 (GRCm39) |
S144P |
probably benign |
Het |
| Zfp354a |
T |
A |
11: 50,960,876 (GRCm39) |
S362R |
probably 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 |
|
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'- GACCTTAGATCAACAGTATCATCCC -3'
(R):5'- GGAGCTTCAGTTACCAAGAACC -3'
Sequencing Primer
(F):5'- CTTTTTCTTAACATAGGGGCAAAAGG -3'
(R):5'- TTCAGTTACCAAGAACCAATCTATCC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation