Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02022:Washc2'

183994

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) question?

Stock #

IGL02022

Quality Score

Status

Chromosome

Chromosomal Location

116184988-116239632 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116236126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1199 (E1199G)

Ref Sequence

ENSEMBL: ENSMUSP00000038983 (fasta)

Gene Model

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

AlphaFold

Q6PGL7

Predicted Effect

probably benign
Transcript: ENSMUST00000036759
AA Change: E1199G

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000038983
Gene: ENSMUSG00000024104
AA Change: E1199G

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

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

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	T	C	5: 146,120,358 (GRCm39)	Y160C	probably damaging	Het
Abi3bp	T	C	16: 56,412,999 (GRCm39)	S314P	probably damaging	Het
Abra	T	C	15: 41,732,802 (GRCm39)	H88R	probably benign	Het
Bsn	A	G	9: 107,987,617 (GRCm39)		probably benign	Het
Chd3	A	C	11: 69,251,886 (GRCm39)	C123G	probably damaging	Het
Clca3b	A	C	3: 144,547,171 (GRCm39)		probably null	Het
Cnot7	G	T	8: 40,952,386 (GRCm39)	P190T	probably damaging	Het
Cps1	A	T	1: 67,212,031 (GRCm39)		probably benign	Het
Dennd2d	A	G	3: 106,407,220 (GRCm39)	T424A	probably benign	Het
Dnhd1	C	T	7: 105,327,516 (GRCm39)	R54C	probably damaging	Het
Efhd1	G	A	1: 87,192,334 (GRCm39)	E55K	probably damaging	Het
Ep300	T	C	15: 81,495,638 (GRCm39)		probably benign	Het
Ezh1	G	T	11: 101,090,166 (GRCm39)	H529Q	probably damaging	Het
Klhl3	A	T	13: 58,198,878 (GRCm39)	S201T	possibly damaging	Het
Krt1c	A	G	15: 101,724,953 (GRCm39)	F219S	probably damaging	Het
Lrp1b	C	T	2: 41,172,172 (GRCm39)	D751N	probably damaging	Het
Lyst	T	A	13: 13,838,629 (GRCm39)	C1848*	probably null	Het
Macf1	A	G	4: 123,284,842 (GRCm39)		probably null	Het
Med10	T	C	13: 69,961,819 (GRCm39)		probably benign	Het
Msh4	T	A	3: 153,592,593 (GRCm39)	T170S	probably damaging	Het
Or52n3	T	C	7: 104,530,141 (GRCm39)	C76R	probably damaging	Het
Pelp1	T	A	11: 70,297,153 (GRCm39)		probably benign	Het
Prex2	G	A	1: 11,367,963 (GRCm39)	V1595I	probably benign	Het
Prpf8	C	T	11: 75,392,660 (GRCm39)	R1617*	probably null	Het
Rabep1	T	A	11: 70,825,385 (GRCm39)	L684Q	probably damaging	Het
Slc22a4	G	A	11: 53,874,435 (GRCm39)		probably benign	Het
Smox	T	C	2: 131,362,037 (GRCm39)	F153S	probably damaging	Het
Tma16	A	G	8: 66,939,062 (GRCm39)		probably null	Het
Unc80	G	T	1: 66,665,675 (GRCm39)	R1814L	possibly damaging	Het
Vmn2r108	C	T	17: 20,691,987 (GRCm39)	D179N	possibly damaging	Het
Zic1	C	A	9: 91,244,525 (GRCm39)		probably null	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
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

2014-05-07