Incidental Mutation 'IGL01397:Washc2'
ID |
79517 |
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 # |
IGL01397
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
116184988-116239632 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 116224959 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 683
(D683G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144703
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036759]
[ENSMUST00000204283]
[ENSMUST00000204476]
|
AlphaFold |
Q6PGL7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036759
AA Change: D769G
PolyPhen 2
Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000038983 Gene: ENSMUSG00000024104 AA Change: D769G
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: D683G
PolyPhen 2
Score 0.438 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000144703 Gene: ENSMUSG00000024104 AA Change: D683G
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: D769G
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000144982 Gene: ENSMUSG00000024104 AA Change: D769G
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acoxl |
A |
C |
2: 127,876,811 (GRCm39) |
T436P |
possibly damaging |
Het |
Afap1 |
T |
A |
5: 36,126,052 (GRCm39) |
V349E |
probably damaging |
Het |
Arfgef1 |
C |
T |
1: 10,229,796 (GRCm39) |
V1302I |
probably benign |
Het |
Atp11a |
T |
A |
8: 12,862,321 (GRCm39) |
W58R |
probably damaging |
Het |
Brpf3 |
A |
T |
17: 29,036,606 (GRCm39) |
K670N |
probably benign |
Het |
Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
Cenpp |
T |
C |
13: 49,794,759 (GRCm39) |
D136G |
probably damaging |
Het |
Cep85 |
T |
C |
4: 133,883,517 (GRCm39) |
E124G |
probably damaging |
Het |
Crybb3 |
T |
C |
5: 113,227,701 (GRCm39) |
E40G |
probably damaging |
Het |
Dennd2d |
G |
T |
3: 106,394,365 (GRCm39) |
|
probably null |
Het |
Dhx34 |
A |
G |
7: 15,944,468 (GRCm39) |
L582P |
probably damaging |
Het |
Dst |
A |
G |
1: 34,296,825 (GRCm39) |
K5738R |
probably damaging |
Het |
Eif4g1 |
T |
A |
16: 20,498,425 (GRCm39) |
L328Q |
probably damaging |
Het |
Eya4 |
T |
C |
10: 23,015,897 (GRCm39) |
K357E |
probably benign |
Het |
F8 |
A |
G |
X: 74,423,145 (GRCm39) |
S25P |
probably benign |
Het |
Fgd2 |
A |
G |
17: 29,586,949 (GRCm39) |
E293G |
probably damaging |
Het |
Foxi1 |
T |
A |
11: 34,157,599 (GRCm39) |
Q142L |
probably damaging |
Het |
Gfm1 |
A |
G |
3: 67,350,991 (GRCm39) |
E316G |
probably benign |
Het |
Glb1l3 |
C |
T |
9: 26,736,491 (GRCm39) |
D524N |
probably benign |
Het |
Heatr5a |
A |
T |
12: 51,941,152 (GRCm39) |
V1366D |
possibly damaging |
Het |
Idh1 |
T |
C |
1: 65,207,754 (GRCm39) |
T142A |
possibly damaging |
Het |
Lamc1 |
C |
A |
1: 153,126,880 (GRCm39) |
G422V |
probably damaging |
Het |
Lars1 |
A |
T |
18: 42,361,094 (GRCm39) |
H691Q |
probably damaging |
Het |
Ltbp2 |
T |
C |
12: 84,837,042 (GRCm39) |
Y1259C |
probably damaging |
Het |
Muc19 |
T |
A |
15: 91,778,498 (GRCm39) |
|
noncoding transcript |
Het |
Nphs1 |
A |
G |
7: 30,186,089 (GRCm39) |
D1240G |
probably benign |
Het |
Or3a1b |
T |
A |
11: 74,012,590 (GRCm39) |
N158K |
probably damaging |
Het |
Or5w1 |
A |
T |
2: 87,487,249 (GRCm39) |
N5K |
probably damaging |
Het |
Pabir2 |
G |
A |
X: 52,349,088 (GRCm39) |
T121I |
probably damaging |
Het |
Parp14 |
T |
C |
16: 35,679,098 (GRCm39) |
N290S |
probably benign |
Het |
Pex5l |
G |
A |
3: 33,006,746 (GRCm39) |
T541I |
probably damaging |
Het |
Plch1 |
A |
C |
3: 63,639,150 (GRCm39) |
|
probably null |
Het |
Ppp4r3b |
C |
T |
11: 29,163,594 (GRCm39) |
A722V |
probably benign |
Het |
Ptges3 |
T |
C |
10: 127,906,069 (GRCm39) |
S85P |
probably benign |
Het |
R3hdm2 |
C |
T |
10: 127,294,719 (GRCm39) |
R201W |
probably damaging |
Het |
Rcan2 |
C |
A |
17: 44,147,359 (GRCm39) |
Q66K |
possibly damaging |
Het |
Skint4 |
A |
G |
4: 111,977,207 (GRCm39) |
N199S |
possibly damaging |
Het |
Smc4 |
A |
G |
3: 68,938,877 (GRCm39) |
T951A |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,762,444 (GRCm39) |
|
probably benign |
Het |
Snx30 |
T |
C |
4: 59,894,526 (GRCm39) |
V368A |
probably benign |
Het |
Spata31d1a |
C |
T |
13: 59,849,552 (GRCm39) |
A859T |
probably damaging |
Het |
Tg |
G |
A |
15: 66,567,941 (GRCm39) |
|
probably benign |
Het |
Tmem132b |
T |
C |
5: 125,775,792 (GRCm39) |
V422A |
probably benign |
Het |
Tnxb |
T |
C |
17: 34,933,647 (GRCm39) |
S2356P |
probably damaging |
Het |
Vmn1r122 |
A |
G |
7: 20,867,707 (GRCm39) |
V116A |
possibly damaging |
Het |
Wdr35 |
C |
A |
12: 9,058,550 (GRCm39) |
T580K |
probably benign |
Het |
Wwc2 |
T |
A |
8: 48,321,311 (GRCm39) |
N601I |
unknown |
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 |
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 |
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 |
2013-11-05 |