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

Fam21, D6Wsu116e, C530005J20Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02555

Quality Score

Status

Chromosome

Chromosomal Location

116208038-116262686 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 116209100 bp (GRCm38)

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

noncoding transcript
Transcript: ENSMUST00000204446

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

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
2010109I03Rik	G	T	15: 74,881,608		probably benign	Het
Actr1b	G	A	1: 36,701,747	R199C	probably damaging	Het
Adam9	T	C	8: 24,966,736	N661D	probably damaging	Het
Amy1	C	T	3: 113,564,892	E164K	probably benign	Het
Arid5b	A	C	10: 68,101,904	D221E	probably benign	Het
B3galt1	G	T	2: 68,118,561	V207F	probably benign	Het
Begain	A	G	12: 109,034,189	S219P	probably damaging	Het
Clip1	A	G	5: 123,621,794		probably null	Het
Cps1	A	G	1: 67,214,021	K1224R	probably benign	Het
Dnm1	A	G	2: 32,328,038	Y449H	probably damaging	Het
Epas1	A	T	17: 86,829,064	M755L	probably benign	Het
F13b	T	C	1: 139,517,186	C525R	probably damaging	Het
Fmnl2	A	G	2: 53,126,851		probably null	Het
Gm5346	A	T	8: 43,625,268	C640S	probably damaging	Het
Ighv5-15	A	G	12: 113,827,115	F3L	probably benign	Het
Inpp4a	A	G	1: 37,379,968	Q538R	possibly damaging	Het
Insrr	A	T	3: 87,813,817	M1092L	probably damaging	Het
Itgb8	C	T	12: 119,189,881	V300M	probably damaging	Het
Kcnk5	A	T	14: 20,141,985	H369Q	probably benign	Het
Olfr1023	G	A	2: 85,887,398	M199I	probably benign	Het
Olfr1249	G	A	2: 89,630,203	R232C	probably damaging	Het
Olfr1294	A	G	2: 111,537,917	V124A	probably damaging	Het
Olfr24	T	A	9: 18,755,473	H54L	probably benign	Het
Plxdc2	A	G	2: 16,729,341	I417M	probably benign	Het
Polr1a	G	A	6: 71,920,457	E186K	probably damaging	Het
Ppp3cb	A	T	14: 20,530,953	F134L	probably damaging	Het
Prox2	C	T	12: 85,095,260	W56*	probably null	Het
Scaf4	C	T	16: 90,250,305	A395T	unknown	Het
Sh3tc2	G	T	18: 61,990,237	A690S	probably damaging	Het
Slc34a1	T	C	13: 55,401,168	S144P	possibly damaging	Het
Slc6a6	C	T	6: 91,748,330		probably benign	Het
Tubgcp3	A	T	8: 12,639,595	M557K	probably benign	Het
Vmn2r103	A	T	17: 19,811,611	D549V	probably damaging	Het

Other mutations in Washc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Washc2	APN	6	116256676	missense	probably benign
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
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
R8224:Washc2	UTSW	6	116241496	missense	probably damaging	0.99
R8697:Washc2	UTSW	6	116229259	missense	probably benign	0.17
R8841:Washc2	UTSW	6	116258955	missense	probably benign	0.16
R8920:Washc2	UTSW	6	116244654	missense	possibly damaging	0.92
R8971:Washc2	UTSW	6	116254438	missense	probably damaging	0.99
R9010:Washc2	UTSW	6	116221862	missense	probably damaging	1.00
R9231:Washc2	UTSW	6	116258938	missense	probably benign	0.05
R9257:Washc2	UTSW	6	116216108	nonsense	probably null
R9361:Washc2	UTSW	6	116262472	makesense	probably null
R9571:Washc2	UTSW	6	116260670	critical splice donor site	probably null
R9764:Washc2	UTSW	6	116209087	missense	possibly damaging	0.96
X0018:Washc2	UTSW	6	116208258	missense	probably null	0.96

Posted On

2015-04-16