Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00422:Washc2'

6337

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Washc2

Ensembl Gene

ENSMUSG00000024104

Gene Name

WASH complex subunit 2`

Synonyms

Fam21, D6Wsu116e, C530005J20Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00422

Quality Score

Status

Chromosome

Chromosomal Location

116208038-116262686 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116256676 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 888 (T888A)

Ref Sequence

ENSEMBL: ENSMUSP00000144703 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036759] [ENSMUST00000204283] [ENSMUST00000204476]

Predicted Effect

probably benign
Transcript: ENSMUST00000036759
AA Change: T974A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000038983
Gene: ENSMUSG00000024104
AA Change: T974A

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

noncoding transcript
Transcript: ENSMUST00000203980

Predicted Effect

probably benign
Transcript: ENSMUST00000204283
AA Change: T888A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144703
Gene: ENSMUSG00000024104
AA Change: T888A

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

noncoding transcript
Transcript: ENSMUST00000204364

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204495

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	C	T	19: 57,068,186	A359T	probably damaging	Het
Ajuba	A	T	14: 54,571,769	Y400*	probably null	Het
Cckar	T	A	5: 53,699,829	D342V	possibly damaging	Het
Cdc123	A	G	2: 5,798,449	V253A	probably benign	Het
Cep162	T	C	9: 87,227,167	D461G	probably benign	Het
Chd7	G	A	4: 8,859,106	E2399K	probably damaging	Het
Cln8	G	A	8: 14,896,637	C217Y	probably benign	Het
Dchs1	A	G	7: 105,758,029	V2119A	possibly damaging	Het
Dhx33	T	C	11: 71,001,620	S108G	probably benign	Het
Dip2a	T	A	10: 76,313,236	M194L	probably benign	Het
Dnah11	T	C	12: 118,068,096	K1779R	probably damaging	Het
Fads3	T	G	19: 10,055,681	F328V	possibly damaging	Het
Flad1	A	G	3: 89,405,853		probably null	Het
Gm5346	A	G	8: 43,626,351	F279L	probably damaging	Het
Gm7535	G	T	17: 17,911,888		probably benign	Het
Gnpat	A	G	8: 124,885,013	E513G	probably damaging	Het
H2-M5	A	G	17: 36,987,840	I238T	probably damaging	Het
Hoxd12	G	A	2: 74,675,427	R114Q	probably damaging	Het
Ide	T	C	19: 37,276,532	I903V	unknown	Het
Ifi209	T	G	1: 173,638,963	D120E	possibly damaging	Het
Map3k10	T	C	7: 27,668,469	D248G	probably damaging	Het
Mat2b	C	A	11: 40,687,738	G41C	probably damaging	Het
Mfsd4a	T	C	1: 132,040,594	I369V	probably benign	Het
Myom1	T	A	17: 71,126,098	V1480E	probably damaging	Het
Myom2	A	T	8: 15,069,490	D127V	probably damaging	Het
Olfml2b	T	A	1: 170,669,066	V422E	probably damaging	Het
Pkn3	G	A	2: 30,081,104	A228T	probably damaging	Het
Rad17	A	T	13: 100,629,525	I365K	probably benign	Het
Rad17	A	T	13: 100,629,523	S366T	probably damaging	Het
Rpp14	G	A	14: 8,083,934	G30E	possibly damaging	Het
Slco1a6	A	C	6: 142,161,017	C15G	probably benign	Het
Spag9	T	A	11: 94,097,866	F571I	probably benign	Het
Ttc27	T	A	17: 74,780,816	C459S	probably damaging	Het
Zcchc7	A	T	4: 44,931,318	H490L	possibly damaging	Het

Other mutations in Washc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00552:Washc2	APN	6	116256824	missense	possibly damaging	0.85
IGL01397:Washc2	APN	6	116247998	missense	probably benign	0.44
IGL01668:Washc2	APN	6	116262338	missense	probably damaging	1.00
IGL01982:Washc2	APN	6	116236189	missense	probably benign	0.22
IGL02022:Washc2	APN	6	116259165	missense	probably benign	0.22
IGL02150:Washc2	APN	6	116231632	splice site	probably benign
IGL02224:Washc2	APN	6	116220569	missense	possibly damaging	0.70
IGL02553:Washc2	APN	6	116241610	missense	probably damaging	0.98
IGL02555:Washc2	APN	6	116209100	missense	probably damaging	1.00
IGL02612:Washc2	APN	6	116220616	missense	possibly damaging	0.90
IGL02622:Washc2	APN	6	116214018	splice site	probably benign
IGL02900:Washc2	APN	6	116227474	missense	probably damaging	1.00
IGL03263:Washc2	APN	6	116238123	splice site	probably benign
fading	UTSW	6	116254153	missense	probably damaging	1.00
R0218:Washc2	UTSW	6	116248046	nonsense	probably null
R0285:Washc2	UTSW	6	116221839	missense	probably damaging	1.00
R0346:Washc2	UTSW	6	116220523	splice site	probably benign
R0677:Washc2	UTSW	6	116244616	missense	probably damaging	1.00
R0919:Washc2	UTSW	6	116208264	missense	probably damaging	1.00
R1144:Washc2	UTSW	6	116224534	missense	probably damaging	1.00
R1666:Washc2	UTSW	6	116223254	critical splice donor site	probably null
R1687:Washc2	UTSW	6	116256712	missense	probably benign	0.06
R1702:Washc2	UTSW	6	116229306	missense	probably damaging	0.99
R1740:Washc2	UTSW	6	116231632	splice site	probably benign
R1952:Washc2	UTSW	6	116255091	missense	possibly damaging	0.92
R1964:Washc2	UTSW	6	116208987	missense	probably damaging	0.99
R2039:Washc2	UTSW	6	116224439	missense	probably damaging	0.99
R3084:Washc2	UTSW	6	116227493	missense	probably benign	0.00
R3552:Washc2	UTSW	6	116220568	missense	probably damaging	1.00
R3790:Washc2	UTSW	6	116247972	splice site	probably benign
R3949:Washc2	UTSW	6	116208204	utr 5 prime	probably benign
R4089:Washc2	UTSW	6	116256292	splice site	probably null
R4133:Washc2	UTSW	6	116258930	missense	probably damaging	0.99
R4258:Washc2	UTSW	6	116208241	missense	probably damaging	1.00
R4510:Washc2	UTSW	6	116220556	missense	probably damaging	1.00
R4511:Washc2	UTSW	6	116220556	missense	probably damaging	1.00
R4613:Washc2	UTSW	6	116229269	missense	probably damaging	1.00
R4614:Washc2	UTSW	6	116238174	missense	possibly damaging	0.83
R4794:Washc2	UTSW	6	116258649	missense	probably benign	0.03
R5224:Washc2	UTSW	6	116209004	makesense	probably null
R5367:Washc2	UTSW	6	116259150	missense	probably damaging	1.00
R5602:Washc2	UTSW	6	116248095	missense	possibly damaging	0.73
R6013:Washc2	UTSW	6	116254153	missense	probably damaging	1.00
R6075:Washc2	UTSW	6	116227366	missense	probably benign	0.02
R6086:Washc2	UTSW	6	116256216	splice site	probably null
R6344:Washc2	UTSW	6	116258758	missense	probably benign	0.08
R6593:Washc2	UTSW	6	116259249	missense	probably damaging	1.00
R7048:Washc2	UTSW	6	116220583	missense	possibly damaging	0.96
R7062:Washc2	UTSW	6	116219988	missense	possibly damaging	0.72
R7241:Washc2	UTSW	6	116208207	start codon destroyed	probably null	0.01
R7283:Washc2	UTSW	6	116227418	missense	probably damaging	0.99
R7681:Washc2	UTSW	6	116260657	missense	probably damaging	0.99
R7810:Washc2	UTSW	6	116259059	missense	probably benign
R7908:Washc2	UTSW	6	116248145	missense	probably benign
R7923:Washc2	UTSW	6	116226424	missense	possibly damaging	0.83
R8067:Washc2	UTSW	6	116224503	missense	probably damaging	0.99
X0018:Washc2	UTSW	6	116208258	missense	probably null	0.96

Posted On

2012-04-20