Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02555:Washc2'

298472

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 #

IGL02555

Quality Score

Status

Chromosome

Chromosomal Location

116184988-116239632 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116186061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 90 (N90K)

Ref Sequence

ENSEMBL: ENSMUSP00000144982 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036759] [ENSMUST00000203286] [ENSMUST00000203523] [ENSMUST00000204051] [ENSMUST00000204283] [ENSMUST00000204476]

AlphaFold

Q6PGL7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036759
AA Change: N90K

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000038983
Gene: ENSMUSG00000024104
AA Change: N90K

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

probably benign
Transcript: ENSMUST00000203286

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203332

Predicted Effect

probably benign
Transcript: ENSMUST00000203523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203802

Predicted Effect

unknown
Transcript: ENSMUST00000204051
AA Change: N4K

Predicted Effect

probably damaging
Transcript: ENSMUST00000204283
AA Change: N4K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144703
Gene: ENSMUSG00000024104
AA Change: N4K

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 damaging
Transcript: ENSMUST00000204476
AA Change: N90K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144982
Gene: ENSMUSG00000024104
AA Change: N90K

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: ENSMUST00000204446

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr1b	G	A	1: 36,740,828 (GRCm39)	R199C	probably damaging	Het
Adam34l	A	T	8: 44,078,305 (GRCm39)	C640S	probably damaging	Het
Adam9	T	C	8: 25,456,752 (GRCm39)	N661D	probably damaging	Het
Amy1	C	T	3: 113,358,541 (GRCm39)	E164K	probably benign	Het
Arid5b	A	C	10: 67,937,734 (GRCm39)	D221E	probably benign	Het
B3galt1	G	T	2: 67,948,905 (GRCm39)	V207F	probably benign	Het
Begain	A	G	12: 109,000,115 (GRCm39)	S219P	probably damaging	Het
Clip1	A	G	5: 123,759,857 (GRCm39)		probably null	Het
Cps1	A	G	1: 67,253,180 (GRCm39)	K1224R	probably benign	Het
Dnm1	A	G	2: 32,218,050 (GRCm39)	Y449H	probably damaging	Het
Epas1	A	T	17: 87,136,492 (GRCm39)	M755L	probably benign	Het
F13b	T	C	1: 139,444,924 (GRCm39)	C525R	probably damaging	Het
Fmnl2	A	G	2: 53,016,863 (GRCm39)		probably null	Het
Ighv5-15	A	G	12: 113,790,735 (GRCm39)	F3L	probably benign	Het
Inpp4a	A	G	1: 37,419,049 (GRCm39)	Q538R	possibly damaging	Het
Insrr	A	T	3: 87,721,124 (GRCm39)	M1092L	probably damaging	Het
Itgb8	C	T	12: 119,153,616 (GRCm39)	V300M	probably damaging	Het
Kcnk5	A	T	14: 20,192,053 (GRCm39)	H369Q	probably benign	Het
Ly6m	G	T	15: 74,753,457 (GRCm39)		probably benign	Het
Or1m1	T	A	9: 18,666,769 (GRCm39)	H54L	probably benign	Het
Or4a76	G	A	2: 89,460,547 (GRCm39)	R232C	probably damaging	Het
Or4k44	A	G	2: 111,368,262 (GRCm39)	V124A	probably damaging	Het
Or5m10	G	A	2: 85,717,742 (GRCm39)	M199I	probably benign	Het
Plxdc2	A	G	2: 16,734,152 (GRCm39)	I417M	probably benign	Het
Polr1a	G	A	6: 71,897,441 (GRCm39)	E186K	probably damaging	Het
Ppp3cb	A	T	14: 20,581,021 (GRCm39)	F134L	probably damaging	Het
Prox2	C	T	12: 85,142,034 (GRCm39)	W56*	probably null	Het
Scaf4	C	T	16: 90,047,193 (GRCm39)	A395T	unknown	Het
Sh3tc2	G	T	18: 62,123,308 (GRCm39)	A690S	probably damaging	Het
Slc34a1	T	C	13: 55,548,981 (GRCm39)	S144P	possibly damaging	Het
Slc6a6	C	T	6: 91,725,311 (GRCm39)		probably benign	Het
Tubgcp3	A	T	8: 12,689,595 (GRCm39)	M557K	probably benign	Het
Vmn2r103	A	T	17: 20,031,873 (GRCm39)	D549V	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
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

2015-04-16