Incidental Mutation 'IGL02514:Washc4'
| ID |
296678 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Washc4
|
| Ensembl Gene |
ENSMUSG00000034560 |
| Gene Name |
WASH complex subunit 4 |
| Synonyms |
A230046K03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
IGL02514
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
83379616-83432337 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 83405947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 481
(E481V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038388]
[ENSMUST00000217842]
|
| AlphaFold |
Q3UMB9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038388
AA Change: E481V
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000039322
Gene: ENSMUSG00000034560
AA Change: E481V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:WASH-7_N
|
32 |
604 |
4.8e-245 |
PFAM |
|
Pfam:WASH-7_mid
|
605 |
949 |
7.9e-176 |
PFAM |
|
low complexity region
|
954 |
965 |
N/A |
INTRINSIC |
|
Pfam:WASH-7_C
|
966 |
1135 |
9.1e-76 |
PFAM |
|
low complexity region
|
1138 |
1156 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217842
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the WASH complex, which functions in the intracellular transport of endosomes. Mutations in this gene have been detected in individuals with autosomal recessive mental retardation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310009B15Rik |
A |
T |
1: 138,779,909 (GRCm39) |
C114* |
probably null |
Het |
| 4933421I07Rik |
A |
G |
7: 42,096,981 (GRCm39) |
M110T |
probably damaging |
Het |
| Amer1 |
A |
G |
X: 94,470,117 (GRCm39) |
V667A |
possibly damaging |
Het |
| Casr |
C |
T |
16: 36,320,687 (GRCm39) |
G487E |
probably damaging |
Het |
| Catsperd |
G |
A |
17: 56,968,271 (GRCm39) |
G552D |
probably damaging |
Het |
| Ceacam3 |
A |
G |
7: 16,896,906 (GRCm39) |
D624G |
possibly damaging |
Het |
| Celsr2 |
A |
G |
3: 108,304,826 (GRCm39) |
V2208A |
probably benign |
Het |
| Cibar1 |
T |
G |
4: 12,164,080 (GRCm39) |
|
probably benign |
Het |
| Clca4a |
G |
A |
3: 144,660,832 (GRCm39) |
S664F |
probably damaging |
Het |
| Ddx23 |
A |
T |
15: 98,556,199 (GRCm39) |
S40T |
unknown |
Het |
| Dhodh |
G |
A |
8: 110,332,896 (GRCm39) |
R58* |
probably null |
Het |
| Dhx36 |
A |
G |
3: 62,408,319 (GRCm39) |
L173S |
possibly damaging |
Het |
| Dnaaf5 |
C |
T |
5: 139,159,872 (GRCm39) |
|
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,565,470 (GRCm39) |
D2546G |
probably damaging |
Het |
| Eef2 |
T |
G |
10: 81,015,427 (GRCm39) |
I316S |
probably benign |
Het |
| Efcab6 |
T |
C |
15: 83,917,143 (GRCm39) |
D139G |
possibly damaging |
Het |
| Efcab6 |
A |
T |
15: 83,755,512 (GRCm39) |
|
probably benign |
Het |
| Eif4g3 |
T |
A |
4: 137,853,505 (GRCm39) |
I357N |
possibly damaging |
Het |
| Elovl2 |
G |
A |
13: 41,348,247 (GRCm39) |
T44M |
probably benign |
Het |
| Fbln1 |
T |
A |
15: 85,128,463 (GRCm39) |
C553* |
probably null |
Het |
| Fip1l1 |
T |
C |
5: 74,731,813 (GRCm39) |
V310A |
probably damaging |
Het |
| Gast |
A |
G |
11: 100,227,718 (GRCm39) |
D100G |
probably benign |
Het |
| Gk |
G |
A |
X: 84,756,970 (GRCm39) |
|
probably benign |
Het |
| Gm1330 |
G |
A |
2: 148,841,305 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
C |
A |
4: 137,296,887 (GRCm39) |
T4355K |
probably benign |
Het |
| Ipo7 |
T |
C |
7: 109,648,035 (GRCm39) |
V639A |
possibly damaging |
Het |
| Lrrc7 |
T |
C |
3: 157,865,929 (GRCm39) |
M1271V |
probably damaging |
Het |
| Msantd1 |
T |
A |
5: 35,078,887 (GRCm39) |
S141T |
probably damaging |
Het |
| Myo9b |
T |
C |
8: 71,743,650 (GRCm39) |
I237T |
probably damaging |
Het |
| Or10ag59 |
G |
A |
2: 87,405,537 (GRCm39) |
M36I |
probably benign |
Het |
| Or13a21 |
A |
T |
7: 139,999,507 (GRCm39) |
Y60N |
probably damaging |
Het |
| Or2w3 |
T |
C |
11: 58,556,469 (GRCm39) |
F28S |
probably damaging |
Het |
| Or4k40 |
A |
C |
2: 111,251,117 (GRCm39) |
Y60D |
probably damaging |
Het |
| Pan2 |
A |
T |
10: 128,146,610 (GRCm39) |
M416L |
possibly damaging |
Het |
| Pank4 |
T |
C |
4: 155,054,922 (GRCm39) |
F209L |
probably damaging |
Het |
| Pcdhb13 |
A |
T |
18: 37,576,044 (GRCm39) |
I141L |
possibly damaging |
Het |
| Pik3r2 |
A |
G |
8: 71,223,236 (GRCm39) |
Y422H |
probably benign |
Het |
| Pramel14 |
T |
C |
4: 143,719,772 (GRCm39) |
K198E |
probably benign |
Het |
| Prdm4 |
A |
T |
10: 85,743,781 (GRCm39) |
I158N |
probably damaging |
Het |
| Prl |
T |
G |
13: 27,243,377 (GRCm39) |
L14R |
probably damaging |
Het |
| Rabl6 |
C |
A |
2: 25,498,188 (GRCm39) |
A23S |
probably damaging |
Het |
| Rbm15b |
T |
A |
9: 106,762,176 (GRCm39) |
H664L |
probably damaging |
Het |
| Rhobtb1 |
T |
A |
10: 69,125,471 (GRCm39) |
H618Q |
probably benign |
Het |
| Slc15a1 |
T |
C |
14: 121,724,452 (GRCm39) |
K140R |
probably damaging |
Het |
| Slc6a17 |
A |
G |
3: 107,402,993 (GRCm39) |
S145P |
possibly damaging |
Het |
| Snx31 |
T |
C |
15: 36,525,728 (GRCm39) |
T324A |
probably damaging |
Het |
| Spatc1l |
T |
C |
10: 76,405,490 (GRCm39) |
|
probably benign |
Het |
| Taar7b |
A |
G |
10: 23,876,882 (GRCm39) |
N349S |
probably benign |
Het |
| Tbx19 |
T |
C |
1: 164,981,273 (GRCm39) |
I74V |
probably benign |
Het |
| Tmtc2 |
G |
A |
10: 105,025,960 (GRCm39) |
T836I |
possibly damaging |
Het |
| Vmn2r72 |
C |
A |
7: 85,387,907 (GRCm39) |
M552I |
possibly damaging |
Het |
| Vsig10l |
A |
G |
7: 43,113,338 (GRCm39) |
T199A |
probably benign |
Het |
| Zc3h15 |
T |
A |
2: 83,483,725 (GRCm39) |
N33K |
probably damaging |
Het |
|
| Other mutations in Washc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00979:Washc4
|
APN |
10 |
83,386,747 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01370:Washc4
|
APN |
10 |
83,394,694 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01524:Washc4
|
APN |
10 |
83,411,996 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL01682:Washc4
|
APN |
10 |
83,416,170 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01973:Washc4
|
APN |
10 |
83,391,973 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02002:Washc4
|
APN |
10 |
83,415,407 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02020:Washc4
|
APN |
10 |
83,400,336 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02230:Washc4
|
APN |
10 |
83,417,233 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02421:Washc4
|
APN |
10 |
83,415,414 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02619:Washc4
|
APN |
10 |
83,394,717 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02852:Washc4
|
APN |
10 |
83,419,173 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02870:Washc4
|
APN |
10 |
83,421,740 (GRCm39) |
missense |
probably benign |
|
|
IGL03181:Washc4
|
APN |
10 |
83,426,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03247:Washc4
|
APN |
10 |
83,400,327 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0458:Washc4
|
UTSW |
10 |
83,382,663 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0462:Washc4
|
UTSW |
10 |
83,392,777 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0471:Washc4
|
UTSW |
10 |
83,394,598 (GRCm39) |
splice site |
probably benign |
|
|
R1144:Washc4
|
UTSW |
10 |
83,416,194 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1560:Washc4
|
UTSW |
10 |
83,391,973 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1789:Washc4
|
UTSW |
10 |
83,415,389 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1819:Washc4
|
UTSW |
10 |
83,386,748 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2421:Washc4
|
UTSW |
10 |
83,415,385 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2882:Washc4
|
UTSW |
10 |
83,415,365 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2902:Washc4
|
UTSW |
10 |
83,390,627 (GRCm39) |
nonsense |
probably null |
|
|
R3436:Washc4
|
UTSW |
10 |
83,405,866 (GRCm39) |
missense |
probably benign |
0.33 |
|
R3437:Washc4
|
UTSW |
10 |
83,405,866 (GRCm39) |
missense |
probably benign |
0.33 |
|
R3552:Washc4
|
UTSW |
10 |
83,382,720 (GRCm39) |
missense |
probably benign |
0.45 |
|
R4646:Washc4
|
UTSW |
10 |
83,410,407 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4647:Washc4
|
UTSW |
10 |
83,410,407 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4648:Washc4
|
UTSW |
10 |
83,410,407 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4732:Washc4
|
UTSW |
10 |
83,410,343 (GRCm39) |
missense |
probably benign |
|
|
R4733:Washc4
|
UTSW |
10 |
83,410,343 (GRCm39) |
missense |
probably benign |
|
|
R4750:Washc4
|
UTSW |
10 |
83,426,916 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4835:Washc4
|
UTSW |
10 |
83,415,376 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5024:Washc4
|
UTSW |
10 |
83,419,200 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5055:Washc4
|
UTSW |
10 |
83,392,771 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5414:Washc4
|
UTSW |
10 |
83,391,967 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5423:Washc4
|
UTSW |
10 |
83,415,418 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5428:Washc4
|
UTSW |
10 |
83,410,386 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5506:Washc4
|
UTSW |
10 |
83,417,201 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5540:Washc4
|
UTSW |
10 |
83,409,657 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5667:Washc4
|
UTSW |
10 |
83,405,892 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5671:Washc4
|
UTSW |
10 |
83,405,892 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5777:Washc4
|
UTSW |
10 |
83,391,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6369:Washc4
|
UTSW |
10 |
83,410,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6370:Washc4
|
UTSW |
10 |
83,407,226 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6500:Washc4
|
UTSW |
10 |
83,394,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6645:Washc4
|
UTSW |
10 |
83,408,059 (GRCm39) |
nonsense |
probably null |
|
|
R6657:Washc4
|
UTSW |
10 |
83,394,482 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6829:Washc4
|
UTSW |
10 |
83,396,380 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6862:Washc4
|
UTSW |
10 |
83,394,757 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6899:Washc4
|
UTSW |
10 |
83,411,919 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7144:Washc4
|
UTSW |
10 |
83,409,638 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7163:Washc4
|
UTSW |
10 |
83,426,897 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7477:Washc4
|
UTSW |
10 |
83,410,307 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7900:Washc4
|
UTSW |
10 |
83,409,637 (GRCm39) |
splice site |
probably null |
|
|
R8194:Washc4
|
UTSW |
10 |
83,416,163 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R8491:Washc4
|
UTSW |
10 |
83,411,987 (GRCm39) |
missense |
probably benign |
0.24 |
|
R8791:Washc4
|
UTSW |
10 |
83,386,748 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8804:Washc4
|
UTSW |
10 |
83,408,015 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8896:Washc4
|
UTSW |
10 |
83,405,882 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8961:Washc4
|
UTSW |
10 |
83,409,657 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9084:Washc4
|
UTSW |
10 |
83,422,499 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9452:Washc4
|
UTSW |
10 |
83,396,387 (GRCm39) |
missense |
probably benign |
|
|
R9532:Washc4
|
UTSW |
10 |
83,417,258 (GRCm39) |
splice site |
probably benign |
|
|
X0017:Washc4
|
UTSW |
10 |
83,427,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Washc4
|
UTSW |
10 |
83,394,693 (GRCm39) |
frame shift |
probably null |
|
|
Z1088:Washc4
|
UTSW |
10 |
83,412,605 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Posted On |
2015-04-16 |
Incidental Mutation