Mutagenetix > Incidental Mutation

Incidental Mutation 'R4489:Washc3'

330642

Institutional Source

Beutler Lab

Gene Symbol

Washc3

Ensembl Gene

ENSMUSG00000020056

Gene Name

WASH complex subunit 3

Synonyms

Ccdc53, 2900091E11Rik, 5730495F03Rik

MMRRC Submission

041745-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4489 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88036955-88082020 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88051893 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 87 (V87A)

Ref Sequence

ENSEMBL: ENSMUSP00000138310 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020248] [ENSMUST00000171151] [ENSMUST00000182183] [ENSMUST00000182299] [ENSMUST00000182619]

AlphaFold

Q9CR27

Predicted Effect

probably benign
Transcript: ENSMUST00000020248
AA Change: V94A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000020248
Gene: ENSMUSG00000020056
AA Change: V94A

Domain	Start	End	E-Value	Type
Pfam:DUF2360	30	167	1.8e-51	PFAM
low complexity region	177	194	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171151
AA Change: V94A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000132246
Gene: ENSMUSG00000020056
AA Change: V94A

Domain	Start	End	E-Value	Type
Pfam:DUF2360	30	167	3.5e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182183
AA Change: V94A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000138540
Gene: ENSMUSG00000020056
AA Change: V94A

Domain	Start	End	E-Value	Type
Pfam:DUF2360	30	167	5.5e-52	PFAM
low complexity region	176	193	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000182299

SMART Domains

Protein: ENSMUSP00000138261
Gene: ENSMUSG00000020056

Domain	Start	End	E-Value	Type
Pfam:DUF2360	30	50	2.1e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182351

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182359

Predicted Effect

probably benign
Transcript: ENSMUST00000182619
AA Change: V87A

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000138310
Gene: ENSMUSG00000020056
AA Change: V87A

Domain	Start	End	E-Value	Type
Pfam:DUF2360	23	159	7.3e-41	PFAM

Meta Mutation Damage Score

0.0915

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

94% (50/53)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	G	15: 91,062,486 (GRCm39)	V484A	probably damaging	Het
Ank3	C	T	10: 69,734,086 (GRCm39)	A754V	probably damaging	Het
Ano1	T	C	7: 144,165,479 (GRCm39)	N582S	probably benign	Het
Arnt2	T	A	7: 83,924,553 (GRCm39)	T425S	probably benign	Het
Bltp1	A	T	3: 37,058,082 (GRCm39)	Q3224L	probably null	Het
Cand2	A	G	6: 115,766,427 (GRCm39)	D344G	probably damaging	Het
Clta	T	G	4: 44,032,417 (GRCm39)	F198V	probably damaging	Het
Cnga2	T	A	X: 71,049,733 (GRCm39)	F133I	possibly damaging	Het
Csmd2	G	A	4: 128,275,738 (GRCm39)	V826M	possibly damaging	Het
Dnah11	C	T	12: 117,880,631 (GRCm39)	V3830I	probably benign	Het
Fhl4	T	C	10: 84,934,319 (GRCm39)	D154G	possibly damaging	Het
Gbp4	T	A	5: 105,269,773 (GRCm39)	T352S	probably damaging	Het
Gigyf2	A	G	1: 87,368,548 (GRCm39)	D1076G	probably damaging	Het
Gm21370	T	A	13: 120,488,378 (GRCm39)	Y57F	probably benign	Het
Gm6489	A	G	1: 31,326,320 (GRCm39)		noncoding transcript	Het
Grm6	T	C	11: 50,750,816 (GRCm39)	S660P	probably damaging	Het
Hectd4	T	G	5: 121,424,320 (GRCm39)	I660R	possibly damaging	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Htr1b	A	T	9: 81,513,592 (GRCm39)	D338E	probably benign	Het
Kifbp	A	G	10: 62,398,806 (GRCm39)		probably benign	Het
Lrp1b	T	C	2: 40,551,501 (GRCm39)		probably benign	Het
Lzts1	T	A	8: 69,588,347 (GRCm39)	K536N	possibly damaging	Het
Mrpl22	T	A	11: 58,063,928 (GRCm39)	N49K	probably benign	Het
Mzt1	T	C	14: 99,273,926 (GRCm39)	*42W	probably null	Het
Nkx3-2	T	G	5: 41,919,304 (GRCm39)	Q228P	probably damaging	Het
Nufip2	T	G	11: 77,577,055 (GRCm39)	M1R	probably null	Het
Obscn	G	A	11: 58,922,417 (GRCm39)	T5921M	possibly damaging	Het
Or4c116	T	C	2: 88,941,916 (GRCm39)		probably null	Het
Or52e7	T	C	7: 104,684,510 (GRCm39)	F35S	probably benign	Het
Pcdha11	C	A	18: 37,139,969 (GRCm39)	Q533K	possibly damaging	Het
Pgm5	T	C	19: 24,793,809 (GRCm39)	E285G	probably benign	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Potefam1	A	G	2: 111,051,047 (GRCm39)	Y250H	probably benign	Het
Rgs21	T	C	1: 144,395,613 (GRCm39)	T92A	possibly damaging	Het
Rgsl1	T	A	1: 153,703,282 (GRCm39)	Y123F	probably benign	Het
Rnf13	A	C	3: 57,728,010 (GRCm39)	K230T	probably damaging	Het
Sgf29	T	C	7: 126,263,110 (GRCm39)	S29P	possibly damaging	Het
Smchd1	T	C	17: 71,714,230 (GRCm39)	T878A	probably benign	Het
Specc1	T	G	11: 62,042,653 (GRCm39)		probably null	Het
Tg	A	T	15: 66,579,791 (GRCm39)	Q1532L	probably damaging	Het
Timm44	A	C	8: 4,316,654 (GRCm39)	S297A	possibly damaging	Het
Txndc9	G	T	1: 38,034,871 (GRCm39)	S11*	probably null	Het
Uggt1	C	T	1: 36,185,749 (GRCm39)	W1478*	probably null	Het
Xlr5b	T	C	X: 72,201,504 (GRCm39)		probably null	Het

Other mutations in Washc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02103:Washc3	APN	10	88,037,687 (GRCm39)	missense	probably damaging	1.00
R3780:Washc3	UTSW	10	88,055,122 (GRCm39)	missense	probably benign	0.29
R4135:Washc3	UTSW	10	88,055,142 (GRCm39)	missense	probably benign	0.01
R4538:Washc3	UTSW	10	88,051,871 (GRCm39)	missense	probably benign	0.25
R4763:Washc3	UTSW	10	88,055,185 (GRCm39)	missense	probably damaging	1.00
R4773:Washc3	UTSW	10	88,055,124 (GRCm39)	nonsense	probably null
R6572:Washc3	UTSW	10	88,049,568 (GRCm39)	missense	probably benign	0.01
R6933:Washc3	UTSW	10	88,037,714 (GRCm39)	missense	probably damaging	0.98
R7064:Washc3	UTSW	10	88,081,635 (GRCm39)	missense	possibly damaging	0.94
R7803:Washc3	UTSW	10	88,051,937 (GRCm39)	critical splice donor site	probably null
R8120:Washc3	UTSW	10	88,037,159 (GRCm39)	splice site	probably null
R9055:Washc3	UTSW	10	88,051,916 (GRCm39)	missense	probably benign	0.00
R9189:Washc3	UTSW	10	88,051,916 (GRCm39)	missense	probably benign	0.00
X0065:Washc3	UTSW	10	88,070,293 (GRCm39)	missense	probably benign	0.24

Predicted Primers

PCR Primer
(F):5'- ACACGGTTGTATAGGTTTAAAGGCG -3'
(R):5'- GCTGACTATACAGTGACTCTTATCATG -3'

Sequencing Primer
(F):5'- TTTAAAGGCGCTAAGGAAGAATCC -3'
(R):5'- GACTCTTATCATGATGTAGAATGTGG -3'

Posted On

2015-07-21