Mutagenetix > Incidental Mutation

Incidental Mutation 'R0677:Washc2'

61675

Institutional Source

Beutler Lab

Gene Symbol

Washc2

Ensembl Gene

ENSMUSG00000024104

Gene Name

WASH complex subunit 2

Synonyms

C530005J20Rik, D6Wsu116e, Fam21

MMRRC Submission

038862-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0677 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

116184988-116239632 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116221577 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 685 (L685P)

Ref Sequence

ENSEMBL: ENSMUSP00000144982 (fasta)

Gene Model

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

AlphaFold

Q6PGL7

Predicted Effect

probably damaging
Transcript: ENSMUST00000036759
AA Change: L685P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038983
Gene: ENSMUSG00000024104
AA Change: L685P

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

probably damaging
Transcript: ENSMUST00000204283
AA Change: L599P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144703
Gene: ENSMUSG00000024104
AA Change: L599P

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: L685P

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

SMART Domains

Protein: ENSMUSP00000144982
Gene: ENSMUSG00000024104
AA Change: L685P

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

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	G	A	6: 132,603,520 (GRCm39)	Q79*	probably null	Het
Apol8	A	C	15: 77,634,051 (GRCm39)	I175S	probably damaging	Het
BC004004	T	C	17: 29,517,638 (GRCm39)	F284S	probably damaging	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Dchs1	G	A	7: 105,414,191 (GRCm39)	R875C	probably damaging	Het
Depdc5	A	C	5: 33,058,814 (GRCm39)	N261T	probably damaging	Het
Flrt1	A	T	19: 7,073,544 (GRCm39)	C334*	probably null	Het
Galnt5	T	A	2: 57,888,992 (GRCm39)	Y197*	probably null	Het
Gp5	A	G	16: 30,127,193 (GRCm39)	S494P	probably benign	Het
Ifnlr1	T	A	4: 135,432,945 (GRCm39)	D460E	possibly damaging	Het
Mrgpra4	C	T	7: 47,630,728 (GRCm39)	S291N	probably benign	Het
Msh4	G	A	3: 153,585,004 (GRCm39)	P367S	possibly damaging	Het
Myct1	G	T	10: 5,554,261 (GRCm39)	V43F	probably benign	Het
Ndst2	G	A	14: 20,779,647 (GRCm39)	R198W	probably benign	Het
Ogdhl	A	T	14: 32,061,882 (GRCm39)	H500L	probably damaging	Het
Or52s1	C	T	7: 102,862,005 (GRCm39)	R302*	probably null	Het
Or6c2b	T	A	10: 128,947,947 (GRCm39)	M116L	probably damaging	Het
Pkhd1	C	T	1: 20,594,454 (GRCm39)	G1220S	probably benign	Het
Slc26a4	A	G	12: 31,599,910 (GRCm39)		probably null	Het
Spata31g1	T	A	4: 42,970,952 (GRCm39)	L59*	probably null	Het
Sytl1	A	T	4: 132,980,536 (GRCm39)	C551S	possibly damaging	Het
Uri1	T	C	7: 37,664,925 (GRCm39)	N256D	probably benign	Het
Vmn2r114	T	G	17: 23,529,568 (GRCm39)	D178A	probably damaging	Het
Vmn2r23	C	T	6: 123,690,410 (GRCm39)	L429F	probably benign	Het
Wipi2	A	T	5: 142,643,989 (GRCm39)	I124F	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGACTGACAGGGCTTCAGAAGCAG -3'
(R):5'- GTTATCATAGCAGCTCCCAGCATGG -3'

Sequencing Primer
(F):5'- GATCCGATTCTGTCTATCCAAAGG -3'
(R):5'- TCCCAGCATGGGTTCTCAG -3'

Posted On

2013-07-30