Incidental Mutation 'IGL02900:Washc2'
| ID |
363551 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Washc2
|
| Ensembl Gene |
ENSMUSG00000024104 |
| Gene Name |
WASH complex subunit 2 |
| Synonyms |
C530005J20Rik, D6Wsu116e, Fam21 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02900
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
116184988-116239632 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 116204435 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 362
(D362Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144703
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036759]
[ENSMUST00000203928]
[ENSMUST00000204283]
[ENSMUST00000204476]
|
| AlphaFold |
Q6PGL7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036759
AA Change: D448Y
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000038983
Gene: ENSMUSG00000024104
AA Change: D448Y
| 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 |
noncoding transcript
Transcript: ENSMUST00000203297
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203802
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203928
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204283
AA Change: D362Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144703
Gene: ENSMUSG00000024104
AA Change: D362Y
| 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: D448Y
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144982
Gene: ENSMUSG00000024104
AA Change: D448Y
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300003K06Rik |
G |
T |
11: 99,728,774 (GRCm39) |
T23N |
possibly damaging |
Het |
| Angpt4 |
T |
A |
2: 151,753,391 (GRCm39) |
V47E |
probably damaging |
Het |
| Arhgef11 |
G |
A |
3: 87,640,467 (GRCm39) |
R1208Q |
probably benign |
Het |
| Calb1 |
T |
C |
4: 15,895,695 (GRCm39) |
|
probably benign |
Het |
| Capn11 |
G |
T |
17: 45,941,540 (GRCm39) |
|
probably null |
Het |
| Carmil2 |
T |
A |
8: 106,422,151 (GRCm39) |
I1140N |
probably damaging |
Het |
| Cnn3 |
A |
T |
3: 121,245,143 (GRCm39) |
T23S |
probably benign |
Het |
| Colgalt2 |
C |
T |
1: 152,384,481 (GRCm39) |
T607M |
probably damaging |
Het |
| Cyp46a1 |
T |
G |
12: 108,309,350 (GRCm39) |
V93G |
probably damaging |
Het |
| Dcaf6 |
T |
C |
1: 165,227,344 (GRCm39) |
Y261C |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,878,886 (GRCm39) |
Y2715C |
probably damaging |
Het |
| Dsg1a |
G |
T |
18: 20,461,713 (GRCm39) |
|
probably benign |
Het |
| Eml4 |
C |
T |
17: 83,785,421 (GRCm39) |
P862L |
probably benign |
Het |
| Gm5414 |
T |
C |
15: 101,536,242 (GRCm39) |
T128A |
probably damaging |
Het |
| Gp9 |
G |
T |
6: 87,756,415 (GRCm39) |
W143C |
probably damaging |
Het |
| Hipk2 |
T |
C |
6: 38,706,879 (GRCm39) |
I670V |
probably damaging |
Het |
| Hoxa10 |
T |
C |
6: 52,209,541 (GRCm39) |
K77R |
possibly damaging |
Het |
| Kcna1 |
T |
G |
6: 126,620,057 (GRCm39) |
S88R |
probably damaging |
Het |
| Kif1b |
A |
T |
4: 149,265,266 (GRCm39) |
S1758T |
possibly damaging |
Het |
| Klk1b11 |
A |
G |
7: 43,427,837 (GRCm39) |
T182A |
probably damaging |
Het |
| Lrp1 |
G |
A |
10: 127,412,516 (GRCm39) |
|
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,663,854 (GRCm39) |
S991P |
probably damaging |
Het |
| Mast4 |
T |
A |
13: 102,872,184 (GRCm39) |
T2203S |
probably benign |
Het |
| Mxra8 |
A |
G |
4: 155,925,668 (GRCm39) |
|
probably null |
Het |
| Mxra8 |
A |
G |
4: 155,925,576 (GRCm39) |
E95G |
possibly damaging |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Or14j9 |
A |
G |
17: 37,874,740 (GRCm39) |
I154T |
possibly damaging |
Het |
| Or2f2 |
T |
A |
6: 42,767,808 (GRCm39) |
Y278* |
probably null |
Het |
| Or8g2b |
T |
A |
9: 39,751,108 (GRCm39) |
I126N |
probably damaging |
Het |
| Or8g4 |
A |
T |
9: 39,661,901 (GRCm39) |
H73L |
probably benign |
Het |
| Pbx4 |
A |
G |
8: 70,319,216 (GRCm39) |
E249G |
probably damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,750,830 (GRCm39) |
E1727G |
probably benign |
Het |
| Plec |
T |
G |
15: 76,070,414 (GRCm39) |
D932A |
probably damaging |
Het |
| Pramel22 |
A |
T |
4: 143,382,085 (GRCm39) |
F204I |
possibly damaging |
Het |
| Raph1 |
T |
C |
1: 60,542,022 (GRCm39) |
D364G |
probably damaging |
Het |
| Rps29 |
T |
A |
12: 69,205,825 (GRCm39) |
H3L |
probably damaging |
Het |
| Sema4c |
A |
T |
1: 36,589,826 (GRCm39) |
C509* |
probably null |
Het |
| Srgap2 |
A |
T |
1: 131,339,534 (GRCm39) |
|
probably benign |
Het |
| Stam2 |
A |
T |
2: 52,598,209 (GRCm39) |
D243E |
probably benign |
Het |
| Stxbp4 |
A |
G |
11: 90,497,861 (GRCm39) |
L146P |
probably benign |
Het |
| Teddm3 |
G |
T |
16: 20,971,900 (GRCm39) |
T223K |
probably benign |
Het |
| Tfap2d |
A |
T |
1: 19,189,474 (GRCm39) |
N285Y |
probably damaging |
Het |
| Tmprss3 |
T |
A |
17: 31,403,553 (GRCm39) |
D416V |
probably damaging |
Het |
| Vmn1r71 |
T |
A |
7: 10,482,601 (GRCm39) |
Y29F |
probably benign |
Het |
| Vmn2r84 |
T |
C |
10: 130,223,861 (GRCm39) |
|
probably benign |
Het |
| Wbp2nl |
T |
C |
15: 82,198,035 (GRCm39) |
S191P |
probably benign |
Het |
| Zfp608 |
T |
C |
18: 55,079,865 (GRCm39) |
T307A |
probably damaging |
Het |
| Zfp970 |
T |
C |
2: 177,166,610 (GRCm39) |
|
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation