Incidental Mutation 'R1740:Washc2'
ID |
200275 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Washc2
|
Ensembl Gene |
ENSMUSG00000024104 |
Gene Name |
WASH complex subunit 2 |
Synonyms |
C530005J20Rik, D6Wsu116e, Fam21 |
MMRRC Submission |
039772-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1740 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
116184988-116239632 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 116208593 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144982
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036759]
[ENSMUST00000203928]
[ENSMUST00000204283]
[ENSMUST00000204476]
|
AlphaFold |
Q6PGL7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036759
|
SMART Domains |
Protein: ENSMUSP00000038983 Gene: ENSMUSG00000024104
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: ENSMUST00000203297
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203802
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203928
|
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 benign
Transcript: ENSMUST00000204476
|
SMART Domains |
Protein: ENSMUSP00000144982 Gene: ENSMUSG00000024104
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 |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.5%
- 20x: 93.0%
|
Validation Efficiency |
99% (69/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
T |
A |
7: 41,275,549 (GRCm39) |
C417* |
probably null |
Het |
4930548G14Rik |
G |
A |
15: 46,488,885 (GRCm39) |
|
noncoding transcript |
Het |
Abcc12 |
T |
A |
8: 87,232,126 (GRCm39) |
K1311* |
probably null |
Het |
Abcc12 |
T |
C |
8: 87,236,400 (GRCm39) |
D1138G |
possibly damaging |
Het |
Adam32 |
A |
G |
8: 25,411,314 (GRCm39) |
S116P |
probably damaging |
Het |
Arhgef26 |
C |
T |
3: 62,331,004 (GRCm39) |
L39F |
probably damaging |
Het |
Babam1 |
T |
C |
8: 71,855,663 (GRCm39) |
I252T |
probably damaging |
Het |
Btf3 |
C |
T |
13: 98,452,804 (GRCm39) |
M1I |
probably null |
Het |
Ccdc61 |
G |
T |
7: 18,637,862 (GRCm39) |
|
probably benign |
Het |
Ccdc89 |
C |
T |
7: 90,075,946 (GRCm39) |
S52F |
probably damaging |
Het |
Cds2 |
T |
A |
2: 132,144,133 (GRCm39) |
I320N |
possibly damaging |
Het |
Cebpe |
T |
C |
14: 54,949,399 (GRCm39) |
Y6C |
probably damaging |
Het |
Cep250 |
T |
A |
2: 155,815,276 (GRCm39) |
I598N |
probably damaging |
Het |
Cep350 |
T |
A |
1: 155,804,579 (GRCm39) |
I835F |
probably damaging |
Het |
Ces3a |
T |
C |
8: 105,775,317 (GRCm39) |
L22P |
probably damaging |
Het |
Cfap221 |
T |
C |
1: 119,873,558 (GRCm39) |
S490G |
probably benign |
Het |
Cyp2j11 |
A |
G |
4: 96,207,613 (GRCm39) |
V234A |
probably benign |
Het |
Dgat1 |
T |
C |
15: 76,386,929 (GRCm39) |
H399R |
probably damaging |
Het |
Dnah10 |
A |
T |
5: 124,850,254 (GRCm39) |
|
probably null |
Het |
Ebpl |
T |
G |
14: 61,578,656 (GRCm39) |
K193T |
probably benign |
Het |
Entpd5 |
T |
C |
12: 84,443,545 (GRCm39) |
N66S |
probably benign |
Het |
Fcgbp |
G |
T |
7: 27,800,674 (GRCm39) |
G1240V |
possibly damaging |
Het |
Gabra5 |
A |
G |
7: 57,071,590 (GRCm39) |
S209P |
probably benign |
Het |
Glce |
A |
T |
9: 61,977,815 (GRCm39) |
V23D |
probably damaging |
Het |
Gm14226 |
GACTGTTAC |
GAC |
2: 154,866,851 (GRCm39) |
|
probably benign |
Het |
Gtf2h1 |
A |
G |
7: 46,461,890 (GRCm39) |
N296S |
probably null |
Het |
Herc6 |
T |
C |
6: 57,629,050 (GRCm39) |
S654P |
probably benign |
Het |
Kcnk3 |
A |
T |
5: 30,779,321 (GRCm39) |
M124L |
possibly damaging |
Het |
Lamb2 |
T |
G |
9: 108,359,127 (GRCm39) |
V281G |
probably damaging |
Het |
Lctl |
A |
T |
9: 64,040,389 (GRCm39) |
D444V |
probably damaging |
Het |
Mcm2 |
A |
G |
6: 88,861,026 (GRCm39) |
F891L |
probably damaging |
Het |
Mcub |
A |
T |
3: 129,712,376 (GRCm39) |
H166Q |
probably benign |
Het |
Mical2 |
G |
T |
7: 111,933,043 (GRCm39) |
R739L |
probably benign |
Het |
Mideas |
T |
C |
12: 84,219,676 (GRCm39) |
E426G |
probably damaging |
Het |
Mkrn2 |
G |
T |
6: 115,590,330 (GRCm39) |
A229S |
probably damaging |
Het |
Mmp7 |
A |
G |
9: 7,695,278 (GRCm39) |
Y80C |
possibly damaging |
Het |
Mpp2 |
T |
C |
11: 101,953,222 (GRCm39) |
|
probably null |
Het |
Msh6 |
C |
A |
17: 88,293,150 (GRCm39) |
T635K |
possibly damaging |
Het |
Mvd |
T |
A |
8: 123,163,286 (GRCm39) |
T315S |
probably benign |
Het |
Myocd |
C |
T |
11: 65,109,347 (GRCm39) |
|
probably benign |
Het |
Nav1 |
C |
T |
1: 135,386,127 (GRCm39) |
|
probably null |
Het |
Or4k48 |
T |
A |
2: 111,476,214 (GRCm39) |
I43F |
probably damaging |
Het |
Pde4b |
A |
T |
4: 102,344,548 (GRCm39) |
D141V |
probably damaging |
Het |
Pdgfrb |
A |
T |
18: 61,214,905 (GRCm39) |
D978V |
possibly damaging |
Het |
Prss55 |
T |
C |
14: 64,313,129 (GRCm39) |
T252A |
probably damaging |
Het |
Psd3 |
A |
T |
8: 68,573,491 (GRCm39) |
V230E |
probably damaging |
Het |
Ptk2 |
A |
G |
15: 73,114,255 (GRCm39) |
V701A |
possibly damaging |
Het |
Ptprn |
A |
G |
1: 75,238,694 (GRCm39) |
V82A |
probably damaging |
Het |
Ptpru |
G |
T |
4: 131,520,989 (GRCm39) |
|
probably null |
Het |
Raph1 |
T |
A |
1: 60,558,183 (GRCm39) |
K258* |
probably null |
Het |
Rnf25 |
A |
G |
1: 74,637,886 (GRCm39) |
V28A |
probably damaging |
Het |
Slc25a4 |
C |
T |
8: 46,661,540 (GRCm39) |
V212M |
probably benign |
Het |
Slc39a3 |
T |
C |
10: 80,867,342 (GRCm39) |
S135G |
probably damaging |
Het |
Slco6d1 |
A |
G |
1: 98,356,097 (GRCm39) |
I220M |
probably damaging |
Het |
Smim19 |
G |
T |
8: 22,963,544 (GRCm39) |
Y21* |
probably null |
Het |
Speer4f1 |
A |
C |
5: 17,683,759 (GRCm39) |
Y141S |
probably damaging |
Het |
Srgap2 |
G |
A |
1: 131,217,126 (GRCm39) |
P1062L |
probably benign |
Het |
Stra8 |
A |
T |
6: 34,904,654 (GRCm39) |
|
probably benign |
Het |
Timm21 |
G |
C |
18: 84,967,387 (GRCm39) |
L130V |
probably damaging |
Het |
Tmem40 |
A |
G |
6: 115,715,960 (GRCm39) |
S76P |
probably benign |
Het |
Unc13b |
C |
T |
4: 43,240,285 (GRCm39) |
R3569W |
probably damaging |
Het |
Vmn1r128 |
A |
T |
7: 21,083,869 (GRCm39) |
Q191L |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTTCATACAGATGAAGGGCCAGGG -3'
(R):5'- AAGTAGCATTACCAGGACACGAAGC -3'
Sequencing Primer
(F):5'- AGAGGCTGGGGACATTTGC -3'
(R):5'- tgtgtgtgtgctctgtgtg -3'
|
Posted On |
2014-05-23 |