Mutagenetix > Incidental Mutation

Incidental Mutation 'R4135:Washc3'

314856

Institutional Source

Beutler Lab

Gene Symbol

Washc3

Ensembl Gene

ENSMUSG00000020056

Gene Name

WASH complex subunit 3

Synonyms

Ccdc53, 2900091E11Rik, 5730495F03Rik

MMRRC Submission

040995-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4135 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88036955-88082020 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88055142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 111 (E111K)

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: E119K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000020248
Gene: ENSMUSG00000020056
AA Change: E119K

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: E119K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000132246
Gene: ENSMUSG00000020056
AA Change: E119K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000182183
AA Change: E118K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000138540
Gene: ENSMUSG00000020056
AA Change: E118K

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: E111K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000138310
Gene: ENSMUSG00000020056
AA Change: E111K

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

Meta Mutation Damage Score

0.0631

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	A	1: 159,905,092 (GRCm39)		probably benign	Het
Bak1	T	A	17: 27,240,244 (GRCm39)	T148S	possibly damaging	Het
Cdc25a	C	A	9: 109,710,585 (GRCm39)	H157Q	possibly damaging	Het
Chst5	T	C	8: 112,616,816 (GRCm39)	Y268C	probably damaging	Het
Csnk1g2	T	C	10: 80,474,130 (GRCm39)	I145T	possibly damaging	Het
Ctsr	T	C	13: 61,309,084 (GRCm39)	T224A	probably benign	Het
Cux1	T	C	5: 136,336,750 (GRCm39)	K921E	probably damaging	Het
Dcaf12l1	T	C	X: 43,878,330 (GRCm39)	N156S	probably damaging	Het
Dennd2d	T	A	3: 106,389,977 (GRCm39)	D2E	probably benign	Het
Dock2	T	C	11: 34,605,328 (GRCm39)	K264E	possibly damaging	Het
Eif3c	C	G	7: 126,165,471 (GRCm39)		probably benign	Het
Gabrb3	G	T	7: 57,241,036 (GRCm39)	A5S	probably benign	Het
Gcnt2	T	A	13: 41,041,283 (GRCm39)	N147K	probably damaging	Het
Gm6987	T	A	X: 93,068,216 (GRCm39)		noncoding transcript	Het
Hbp1	A	T	12: 31,984,421 (GRCm39)	L262Q	probably damaging	Het
Hsd11b2	T	C	8: 106,249,798 (GRCm39)	V303A	probably benign	Het
Htr5a	A	G	5: 28,047,690 (GRCm39)	M82V	probably benign	Het
Mcc	T	C	18: 44,857,707 (GRCm39)	D136G	probably benign	Het
Mrpl32	C	T	13: 14,787,564 (GRCm39)	V14M	probably damaging	Het
Msl1	A	G	11: 98,687,126 (GRCm39)	D157G	possibly damaging	Het
Mthfd1	G	A	12: 76,329,648 (GRCm39)		probably null	Het
Nkx6-1	T	A	5: 101,807,371 (GRCm39)	D337V	probably damaging	Het
Nlrp5	T	C	7: 23,117,823 (GRCm39)	W516R	possibly damaging	Het
Or2ag1	A	G	7: 106,313,210 (GRCm39)	L226P	probably damaging	Het
Or2l13b	T	A	16: 19,349,452 (GRCm39)	I73F	possibly damaging	Het
Or2y3	A	G	17: 38,393,248 (GRCm39)	V207A	possibly damaging	Het
Or4l1	T	C	14: 50,166,272 (GRCm39)	H243R	probably damaging	Het
Or5af1	C	A	11: 58,722,820 (GRCm39)	T280K	probably damaging	Het
Pate5	A	G	9: 35,750,724 (GRCm39)	S33P	possibly damaging	Het
Pold3	T	A	7: 99,749,854 (GRCm39)	R104*	probably null	Het
Rapsn	A	T	2: 90,867,162 (GRCm39)	N155Y	probably damaging	Het
Rorc	C	A	3: 94,296,826 (GRCm39)	Q269K	probably damaging	Het
Rreb1	A	T	13: 38,131,099 (GRCm39)	N1418Y	probably damaging	Het
Rusc2	G	A	4: 43,425,563 (GRCm39)	D1223N	possibly damaging	Het
Sema6d	T	C	2: 124,506,040 (GRCm39)	I616T	probably damaging	Het
Ttc6	T	A	12: 57,679,581 (GRCm39)		probably benign	Het
Ugt3a1	A	T	15: 9,338,810 (GRCm39)	Y58F	probably damaging	Het
Vmn2r129	T	G	4: 156,691,085 (GRCm39)		noncoding transcript	Het
Vwa5b1	A	T	4: 138,321,641 (GRCm39)	M384K	possibly damaging	Het
Xirp2	A	G	2: 67,355,741 (GRCm39)	S3501G	probably benign	Het
Zfp1004	A	T	2: 150,023,788 (GRCm39)		probably benign	Het
Zfp352	C	T	4: 90,113,261 (GRCm39)	T467M	probably damaging	Het
Zfp729a	C	A	13: 67,767,925 (GRCm39)	C768F	probably damaging	Het
Zfp810	T	C	9: 22,190,369 (GRCm39)	K180E	probably damaging	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
R4489:Washc3	UTSW	10	88,051,893 (GRCm39)	missense	probably benign	0.06
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'- CATTGCATCTCAGGAACAATCTG -3'
(R):5'- GAAAACTTGGTCTTTCTGGTTAGC -3'

Sequencing Primer
(F):5'- GCTATTTGGGAATGAATATCC -3'
(R):5'- CTGGTTAGCAGTTTTCTTAGACTAG -3'

Posted On

2015-05-14