Mutagenetix > Incidental Mutation

Incidental Mutation 'R4510:Washc2'

470167

Institutional Source

Beutler Lab

Gene Symbol

Washc2

Ensembl Gene

ENSMUSG00000024104

Gene Name

WASH complex subunit 2

Synonyms

C530005J20Rik, D6Wsu116e, Fam21

MMRRC Submission

041585-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4510 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

116184988-116239632 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 116197517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 250 (D250V)

Ref Sequence

ENSEMBL: ENSMUSP00000144982 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036759] [ENSMUST00000203286] [ENSMUST00000203523] [ENSMUST00000203928] [ENSMUST00000204283] [ENSMUST00000204476]

AlphaFold

Q6PGL7

Predicted Effect

probably damaging
Transcript: ENSMUST00000036759
AA Change: D250V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038983
Gene: ENSMUSG00000024104
AA Change: D250V

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: ENSMUST00000203161

Predicted Effect

probably benign
Transcript: ENSMUST00000203286

Predicted Effect

probably benign
Transcript: ENSMUST00000203523

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203802

Predicted Effect

probably benign
Transcript: ENSMUST00000203928

Predicted Effect

probably damaging
Transcript: ENSMUST00000204283
AA Change: D164V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144703
Gene: ENSMUSG00000024104
AA Change: D164V

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: D250V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144982
Gene: ENSMUSG00000024104
AA Change: D250V

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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	T	A	10: 29,100,819 (GRCm39)	D397E	probably benign	Het
Abcc10	A	G	17: 46,618,136 (GRCm39)	F1005L	probably damaging	Het
Ackr4	T	C	9: 103,975,930 (GRCm39)	E339G	probably benign	Het
Adam39	G	T	8: 41,279,328 (GRCm39)	C573F	probably damaging	Het
Anks1b	A	G	10: 90,346,652 (GRCm39)	T651A	probably benign	Het
Aoc1	C	A	6: 48,884,740 (GRCm39)	H594Q	probably damaging	Het
Arid1a	A	C	4: 133,423,010 (GRCm39)		probably benign	Het
Atp4a	G	T	7: 30,423,678 (GRCm39)	E928*	probably null	Het
Atp5pf	T	C	16: 84,624,862 (GRCm39)	D104G	probably benign	Het
Atp8b5	A	G	4: 43,320,629 (GRCm39)	T206A	probably damaging	Het
Atrn	G	A	2: 130,777,497 (GRCm39)	W182*	probably null	Het
Bltp2	T	C	11: 78,168,154 (GRCm39)	S1530P	possibly damaging	Het
Cacna1e	G	A	1: 154,437,579 (GRCm39)	T257I	probably damaging	Het
Caskin1	G	A	17: 24,725,602 (GRCm39)	S1296N	probably benign	Het
Crebrf	A	G	17: 26,961,938 (GRCm39)	Y345C	probably benign	Het
Cyp26b1	G	A	6: 84,551,473 (GRCm39)	R248W	probably damaging	Het
Dclk3	C	A	9: 111,297,060 (GRCm39)	H201Q	probably benign	Het
Ddx17	A	T	15: 79,422,793 (GRCm39)	V315E	probably damaging	Het
Dhrs11	T	C	11: 84,716,342 (GRCm39)	*51W	probably null	Het
Fgfr4	C	A	13: 55,309,328 (GRCm39)	P455Q	possibly damaging	Het
Gabbr1	A	G	17: 37,380,103 (GRCm39)	K697E	probably damaging	Het
Gcnt1	G	A	19: 17,307,641 (GRCm39)	T28I	probably benign	Het
Gga2	G	A	7: 121,620,301 (GRCm39)	T4M	unknown	Het
Gm12185	T	A	11: 48,799,305 (GRCm39)	H396L	possibly damaging	Het
Gm21976	A	G	13: 98,441,839 (GRCm39)	R123G	probably benign	Het
Hecw1	A	C	13: 14,531,776 (GRCm39)	V166G	probably damaging	Het
Hpx	A	G	7: 105,241,295 (GRCm39)	V372A	possibly damaging	Het
Igkv2-109	A	G	6: 68,279,962 (GRCm39)	Y61C	probably damaging	Het
Igsf1	A	G	X: 48,875,050 (GRCm39)	F789S	probably damaging	Het
Il4ra	A	G	7: 125,175,280 (GRCm39)	D496G	possibly damaging	Het
Ilf3	A	G	9: 21,310,511 (GRCm39)	T547A	possibly damaging	Het
Insrr	C	A	3: 87,715,978 (GRCm39)	P558T	possibly damaging	Het
Ints9	A	G	14: 65,266,381 (GRCm39)	D411G	possibly damaging	Het
Irak3	T	A	10: 119,981,813 (GRCm39)	H393L	probably damaging	Het
Isx	G	A	8: 75,600,298 (GRCm39)	M10I	probably benign	Het
Itga11	A	G	9: 62,668,870 (GRCm39)	D709G	probably damaging	Het
Kcng2	G	T	18: 80,338,930 (GRCm39)	R453S	probably benign	Het
Kif5b	A	G	18: 6,214,011 (GRCm39)	V664A	probably benign	Het
Lalba	A	G	15: 98,380,422 (GRCm39)	L44P	probably benign	Het
Ldlrad1	T	G	4: 107,066,715 (GRCm39)	F17V	probably benign	Het
Lnx1	C	T	5: 74,780,853 (GRCm39)	D382N	probably damaging	Het
Lrp1	T	C	10: 127,429,717 (GRCm39)	Y451C	probably damaging	Het
Lrp2	A	T	2: 69,310,406 (GRCm39)	N2722K	possibly damaging	Het
Mctp1	G	A	13: 76,973,391 (GRCm39)	V431I	probably benign	Het
Mmrn2	T	C	14: 34,125,016 (GRCm39)	F866L	possibly damaging	Het
Mylk2	A	G	2: 152,759,330 (GRCm39)	E367G	probably damaging	Het
Nfatc1	A	G	18: 80,678,794 (GRCm39)	S865P	probably damaging	Het
Nol6	G	C	4: 41,123,526 (GRCm39)	T74R	probably damaging	Het
Notch2	T	C	3: 98,053,637 (GRCm39)	M2100T	probably benign	Het
Parp1	A	G	1: 180,418,841 (GRCm39)	K667R	possibly damaging	Het
Phlda3	A	G	1: 135,694,400 (GRCm39)	T72A	probably damaging	Het
Polg	T	C	7: 79,105,270 (GRCm39)	Q758R	probably benign	Het
Polq	G	A	16: 36,868,925 (GRCm39)	R765H	probably damaging	Het
Pramel19	A	T	4: 101,798,757 (GRCm39)	M243L	probably benign	Het
Prkd1	T	C	12: 50,439,762 (GRCm39)	D355G	possibly damaging	Het
Prpf8	T	C	11: 75,382,652 (GRCm39)	Y398H	probably damaging	Het
Ripk1	T	C	13: 34,210,731 (GRCm39)	Y309H	probably damaging	Het
Rngtt	A	T	4: 33,339,032 (GRCm39)	Q279L	possibly damaging	Het
Rusf1	A	T	7: 127,875,312 (GRCm39)	F319Y	probably damaging	Het
Samd4	T	A	14: 47,315,042 (GRCm39)	V114D	probably benign	Het
Sec23ip	G	A	7: 128,380,900 (GRCm39)	E956K	probably damaging	Het
Slc4a1ap	A	T	5: 31,684,747 (GRCm39)	T128S	probably benign	Het
Slc5a11	A	T	7: 122,834,858 (GRCm39)	I6F	probably benign	Het
Slc6a19	A	C	13: 73,832,094 (GRCm39)	L494R	probably damaging	Het
Slc6a21	A	G	7: 44,936,713 (GRCm39)	D189G	probably damaging	Het
Slc7a1	G	T	5: 148,277,372 (GRCm39)	A381D	probably damaging	Het
Smc4	T	A	3: 68,923,980 (GRCm39)		probably null	Het
Stk19	T	C	17: 35,051,504 (GRCm39)	E17G	probably damaging	Het
Tekt5	A	C	16: 10,175,877 (GRCm39)	V556G	probably benign	Het
Tenm4	T	C	7: 96,544,070 (GRCm39)	F2029L	probably benign	Het
Thnsl1	T	C	2: 21,217,236 (GRCm39)	V330A	probably damaging	Het
Tnfrsf21	A	G	17: 43,375,910 (GRCm39)	D432G	probably damaging	Het
Tnip1	T	A	11: 54,817,616 (GRCm39)	S244C	probably benign	Het
Tnrc6c	A	T	11: 117,633,784 (GRCm39)	N1294I	possibly damaging	Het
Trpm3	A	G	19: 22,965,381 (GRCm39)	I1625M	probably benign	Het
Ttn	A	T	2: 76,575,773 (GRCm39)	V25040E	probably damaging	Het
Vwa5a	A	G	9: 38,633,853 (GRCm39)	N19D	possibly damaging	Het
Xpo1	A	G	11: 23,237,401 (GRCm39)	T755A	possibly damaging	Het
Zfp462	C	T	4: 55,008,934 (GRCm39)	T300I	possibly damaging	Het
Zfp937	A	C	2: 150,080,431 (GRCm39)	T154P	probably damaging	Het
Zzef1	A	G	11: 72,778,996 (GRCm39)	D1819G	probably benign	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
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
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

Posted On

2017-03-07