Mutagenetix > Incidental Mutation

Incidental Mutation 'R3790:Washc2'

272488

Institutional Source

Beutler Lab

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) question?

Stock #

R3790 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116184988-116239632 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 116224933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144982 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036759] [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: ENSMUST00000203802

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat3	G	A	17: 13,147,460 (GRCm39)	Q186*	probably null	Het
Alk	A	G	17: 72,910,427 (GRCm39)	L93P	possibly damaging	Het
Ankrd24	C	T	10: 81,478,513 (GRCm39)		probably benign	Het
Anks6	A	T	4: 47,049,212 (GRCm39)	V231E	probably damaging	Het
Ap5z1	C	T	5: 142,456,168 (GRCm39)	S329L	probably benign	Het
Asic4	C	A	1: 75,446,485 (GRCm39)		probably benign	Het
Cemip2	T	G	19: 21,784,816 (GRCm39)	I433S	probably damaging	Het
Cers4	C	A	8: 4,568,285 (GRCm39)	Q113K	possibly damaging	Het
Ces3b	A	T	8: 105,813,520 (GRCm39)	I264F	possibly damaging	Het
Cops3	T	C	11: 59,718,797 (GRCm39)	M166V	probably benign	Het
Corin	T	C	5: 72,592,641 (GRCm39)	Q184R	probably benign	Het
Dnah8	G	A	17: 31,073,872 (GRCm39)	R4514H	probably damaging	Het
Drosha	T	A	15: 12,912,623 (GRCm39)	Y1080*	probably null	Het
Gm53	T	C	11: 96,142,477 (GRCm39)		noncoding transcript	Het
Hmcn1	A	G	1: 150,498,745 (GRCm39)	S4045P	probably benign	Het
Kif22	A	G	7: 126,628,668 (GRCm39)	L480P	probably damaging	Het
Lepr	A	T	4: 101,648,111 (GRCm39)		probably benign	Het
Lnpk	A	T	2: 74,352,607 (GRCm39)	S358R	probably benign	Het
Lnx1	A	G	5: 74,789,027 (GRCm39)		probably benign	Het
Lrsam1	T	C	2: 32,848,171 (GRCm39)	E43G	probably null	Het
Mug1	G	A	6: 121,861,587 (GRCm39)	V1350I	probably benign	Het
Nbea	T	A	3: 55,912,450 (GRCm39)	E1112D	probably benign	Het
Nepn	T	A	10: 52,276,626 (GRCm39)	L60I	probably damaging	Het
Oas1e	T	C	5: 120,933,475 (GRCm39)	E30G	probably damaging	Het
Or4c122	A	G	2: 89,079,337 (GRCm39)	F234L	probably benign	Het
Or4k5	A	C	14: 50,386,026 (GRCm39)	F102V	possibly damaging	Het
Pou2f1	G	C	1: 165,722,538 (GRCm39)	P349R	probably damaging	Het
Prmt8	A	T	6: 127,688,110 (GRCm39)	I236N	probably damaging	Het
Psg23	C	A	7: 18,346,126 (GRCm39)	V190L	probably benign	Het
Psg29	A	G	7: 16,938,950 (GRCm39)	K75E	possibly damaging	Het
Ranbp17	GCCTGGATACTGACC	GCC	11: 33,169,203 (GRCm39)		probably benign	Het
Rgs4	A	G	1: 169,571,991 (GRCm39)	S103P	probably damaging	Het
Sis	T	C	3: 72,828,747 (GRCm39)	Y1144C	probably damaging	Het
Slc16a14	T	C	1: 84,907,001 (GRCm39)		probably benign	Het
Snrnp35	T	A	5: 124,628,248 (GRCm39)	D20E	probably damaging	Het
Syce1l	C	A	8: 114,369,897 (GRCm39)	A10E	possibly damaging	Het
Tdp1	A	G	12: 99,858,011 (GRCm39)		probably benign	Het
Tmem212	T	C	3: 27,940,594 (GRCm39)		probably null	Het
Tomm20l	C	T	12: 71,158,516 (GRCm39)	A58V	possibly damaging	Het
Ttn	C	A	2: 76,568,471 (GRCm39)	C27474F	probably damaging	Het
Ttn	A	G	2: 76,804,552 (GRCm39)	V240A	probably benign	Het
Vars1	A	G	17: 35,218,310 (GRCm39)	V48A	probably benign	Het
Vmn2r1	T	C	3: 63,994,185 (GRCm39)		probably null	Het
Zfp943	A	G	17: 22,211,403 (GRCm39)	D163G	possibly damaging	Het
Zmym5	T	C	14: 57,031,230 (GRCm39)	Y626C	probably damaging	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
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
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'- TAACTGAGGATTGTCTGCACAGG -3'
(R):5'- TGCACACGCACCACTCTTTG -3'

Sequencing Primer
(F):5'- AGGATTGTCTGCACAGGCTTCC -3'
(R):5'- ACGCACCACTCTTTGCTCAC -3'

Posted On

2015-03-25