Incidental Mutation 'IGL01982:Washc2'
| ID |
182732 |
| 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 # |
IGL01982
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
116184988-116239632 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 116213150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 570
(E570D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036759]
[ENSMUST00000204283]
[ENSMUST00000204476]
|
| AlphaFold |
Q6PGL7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036759
AA Change: E570D
PolyPhen 2
Score 0.219 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000038983
Gene: ENSMUSG00000024104
AA Change: E570D
| 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: E484D
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000144703
Gene: ENSMUSG00000024104
AA Change: E484D
| 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 benign
Transcript: ENSMUST00000204476
AA Change: E570D
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000144982
Gene: ENSMUSG00000024104
AA Change: E570D
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
C |
1: 71,385,857 (GRCm39) |
S254A |
probably benign |
Het |
| Abca7 |
T |
G |
10: 79,838,475 (GRCm39) |
L583R |
probably damaging |
Het |
| Acp1 |
A |
T |
12: 30,961,491 (GRCm39) |
L14H |
possibly damaging |
Het |
| Adar |
A |
G |
3: 89,645,397 (GRCm39) |
I3V |
probably benign |
Het |
| Adh4 |
C |
T |
3: 138,134,788 (GRCm39) |
|
probably benign |
Het |
| Aldh1l1 |
A |
G |
6: 90,536,845 (GRCm39) |
I103V |
probably benign |
Het |
| Asic3 |
C |
A |
5: 24,622,719 (GRCm39) |
T523N |
probably benign |
Het |
| Aspm |
T |
C |
1: 139,419,326 (GRCm39) |
V1732A |
probably benign |
Het |
| Atad3a |
C |
T |
4: 155,838,384 (GRCm39) |
R211Q |
possibly damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,178,299 (GRCm39) |
Y2286C |
probably damaging |
Het |
| BC034090 |
T |
C |
1: 155,099,078 (GRCm39) |
E569G |
probably damaging |
Het |
| Bpifb3 |
A |
G |
2: 153,767,521 (GRCm39) |
N237S |
probably benign |
Het |
| Bysl |
C |
A |
17: 47,921,996 (GRCm39) |
|
probably null |
Het |
| C2cd6 |
T |
C |
1: 59,106,932 (GRCm39) |
|
probably benign |
Het |
| Ccdc141 |
A |
G |
2: 76,861,003 (GRCm39) |
F925L |
probably damaging |
Het |
| Cdca2 |
A |
T |
14: 67,915,168 (GRCm39) |
V697E |
probably damaging |
Het |
| Cers1 |
A |
G |
8: 70,776,081 (GRCm39) |
D324G |
probably damaging |
Het |
| Ctsq |
T |
A |
13: 61,186,732 (GRCm39) |
I91F |
probably benign |
Het |
| Ctsq |
C |
T |
13: 61,187,335 (GRCm39) |
C11Y |
probably benign |
Het |
| Cyp11b1 |
T |
C |
15: 74,711,252 (GRCm39) |
N142S |
possibly damaging |
Het |
| Cyp3a59 |
G |
T |
5: 146,041,545 (GRCm39) |
S363I |
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,132,919 (GRCm39) |
D567E |
probably benign |
Het |
| Esf1 |
G |
A |
2: 140,006,448 (GRCm39) |
A233V |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,887,107 (GRCm39) |
I2630F |
possibly damaging |
Het |
| Fyb1 |
A |
T |
15: 6,609,658 (GRCm39) |
E77V |
probably null |
Het |
| Gjb6 |
C |
A |
14: 57,362,030 (GRCm39) |
W77L |
probably damaging |
Het |
| Gm21983 |
A |
G |
7: 26,879,703 (GRCm39) |
V88A |
possibly damaging |
Het |
| Gm8247 |
A |
G |
14: 44,823,088 (GRCm39) |
T52A |
probably damaging |
Het |
| Gpr108 |
T |
C |
17: 57,544,877 (GRCm39) |
K329E |
probably damaging |
Het |
| Gpr141 |
T |
A |
13: 19,935,908 (GRCm39) |
H289L |
probably benign |
Het |
| Ilvbl |
T |
C |
10: 78,414,856 (GRCm39) |
Y240H |
probably damaging |
Het |
| Kntc1 |
G |
A |
5: 123,947,159 (GRCm39) |
A1868T |
probably benign |
Het |
| Lrmda |
A |
C |
14: 22,634,550 (GRCm39) |
N112T |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,142,108 (GRCm39) |
Y1334C |
probably damaging |
Het |
| Macc1 |
C |
A |
12: 119,409,369 (GRCm39) |
P46T |
probably benign |
Het |
| Madd |
A |
T |
2: 91,006,052 (GRCm39) |
F381Y |
probably damaging |
Het |
| Map3k20 |
C |
T |
2: 72,128,677 (GRCm39) |
Q38* |
probably null |
Het |
| Mcm4 |
A |
T |
16: 15,448,284 (GRCm39) |
D424E |
possibly damaging |
Het |
| Micu1 |
T |
A |
10: 59,699,100 (GRCm39) |
M463K |
possibly damaging |
Het |
| Mkrn2os |
A |
G |
6: 115,562,492 (GRCm39) |
L157P |
probably damaging |
Het |
| Nectin2 |
A |
G |
7: 19,451,487 (GRCm39) |
S516P |
probably damaging |
Het |
| Nme5 |
T |
A |
18: 34,702,928 (GRCm39) |
D120V |
probably damaging |
Het |
| Npy4r |
T |
C |
14: 33,869,282 (GRCm39) |
N2S |
possibly damaging |
Het |
| Nup107 |
A |
T |
10: 117,595,245 (GRCm39) |
|
probably benign |
Het |
| Omd |
T |
C |
13: 49,742,973 (GRCm39) |
Y8H |
possibly damaging |
Het |
| Phf8-ps |
T |
G |
17: 33,285,289 (GRCm39) |
E504D |
probably benign |
Het |
| Ppp1r15a |
T |
C |
7: 45,173,803 (GRCm39) |
|
probably benign |
Het |
| Ppp2ca |
T |
C |
11: 51,989,891 (GRCm39) |
F6L |
probably benign |
Het |
| Rab1a |
T |
C |
11: 20,174,717 (GRCm39) |
S97P |
probably benign |
Het |
| Ranbp3l |
G |
A |
15: 9,058,827 (GRCm39) |
G359R |
probably damaging |
Het |
| Rnf213 |
A |
T |
11: 119,334,094 (GRCm39) |
H3101L |
probably damaging |
Het |
| Slc27a4 |
T |
C |
2: 29,702,627 (GRCm39) |
F509S |
probably damaging |
Het |
| Slco4a1 |
T |
C |
2: 180,114,946 (GRCm39) |
V623A |
probably benign |
Het |
| Spart |
T |
A |
3: 55,035,911 (GRCm39) |
|
probably null |
Het |
| Sptan1 |
A |
G |
2: 29,909,980 (GRCm39) |
D1780G |
probably damaging |
Het |
| Tgm7 |
G |
T |
2: 120,924,106 (GRCm39) |
Y605* |
probably null |
Het |
| Tmem106b |
T |
C |
6: 13,071,968 (GRCm39) |
|
probably benign |
Het |
| Trak2 |
G |
A |
1: 58,965,814 (GRCm39) |
A120V |
possibly damaging |
Het |
| Trappc8 |
G |
A |
18: 21,007,769 (GRCm39) |
|
probably benign |
Het |
| Trim66 |
T |
C |
7: 109,057,970 (GRCm39) |
T973A |
probably benign |
Het |
| Ttyh3 |
C |
A |
5: 140,621,829 (GRCm39) |
|
probably benign |
Het |
| Ugt2b37 |
A |
C |
5: 87,390,291 (GRCm39) |
I385S |
probably damaging |
Het |
| Usf3 |
A |
G |
16: 44,039,180 (GRCm39) |
N1220S |
possibly damaging |
Het |
| Utrn |
A |
T |
10: 12,623,773 (GRCm39) |
I155N |
probably damaging |
Het |
| Vps13b |
C |
T |
15: 35,439,050 (GRCm39) |
Q377* |
probably null |
Het |
| Wscd1 |
T |
C |
11: 71,657,699 (GRCm39) |
V168A |
possibly damaging |
Het |
| Zfp386 |
T |
A |
12: 116,022,788 (GRCm39) |
C169S |
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation