Mutagenetix > Incidental Mutation

Incidental Mutation 'R1355:Wasf3'

156272

Institutional Source

Beutler Lab

Gene Symbol

Wasf3

Ensembl Gene

ENSMUSG00000029636

Gene Name

WASP family, member 3

Synonyms

Wave3

MMRRC Submission

039420-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1355 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

146321795-146410425 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 146407018 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000016143 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016143]

AlphaFold

Q8VHI6

Predicted Effect

probably benign
Transcript: ENSMUST00000016143

SMART Domains

Protein: ENSMUSP00000016143
Gene: ENSMUSG00000029636

Domain	Start	End	E-Value	Type
PDB:3P8C\|D	1	171	1e-86	PDB
low complexity region	172	184	N/A	INTRINSIC
low complexity region	301	313	N/A	INTRINSIC
low complexity region	339	354	N/A	INTRINSIC
low complexity region	395	422	N/A	INTRINSIC
WH2	439	456	4.97e-5	SMART
low complexity region	484	501	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.4%

Validation Efficiency

100% (57/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all family members. The multiprotein complex serves to tranduce signals that involve changes in cell shape, motility or function. A pseudogene of this gene have been defined on chromosome 6. Alternative splicing results in multiple transcript variants [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal platelet physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Ankrd52	A	G	10: 128,224,565 (GRCm39)	D781G	possibly damaging	Het
Arhgef5	T	A	6: 43,260,846 (GRCm39)	F1424I	probably damaging	Het
Atp10b	G	A	11: 43,042,482 (GRCm39)	W14*	probably null	Het
B4galnt4	T	C	7: 140,645,308 (GRCm39)	V259A	probably damaging	Het
Ccdc141	A	T	2: 76,860,945 (GRCm39)	I944N	probably damaging	Het
Ccdc146	A	T	5: 21,526,240 (GRCm39)	D224E	probably damaging	Het
Ccne1	A	G	7: 37,805,747 (GRCm39)	I43T	possibly damaging	Het
Cd226	T	A	18: 89,265,147 (GRCm39)	S29T	probably benign	Het
Cebpz	G	T	17: 79,242,753 (GRCm39)	D300E	probably benign	Het
Cryzl1	A	G	16: 91,489,546 (GRCm39)	V266A	possibly damaging	Het
Cyp2c68	A	G	19: 39,729,400 (GRCm39)	L29P	probably damaging	Het
Dennd3	A	C	15: 73,412,703 (GRCm39)		probably benign	Het
Dpy19l4	C	T	4: 11,303,371 (GRCm39)	W183*	probably null	Het
Eml6	T	G	11: 29,783,085 (GRCm39)	S599R	probably benign	Het
Erc1	A	T	6: 119,720,381 (GRCm39)	L440*	probably null	Het
Frem3	A	G	8: 81,417,331 (GRCm39)	Y2012C	probably damaging	Het
Garin5a	A	G	7: 44,146,115 (GRCm39)	K2E	possibly damaging	Het
Gm10288	A	T	3: 146,544,748 (GRCm39)		noncoding transcript	Het
Gm1110	T	A	9: 26,795,057 (GRCm39)	K476N	probably benign	Het
Gm11937	A	T	11: 99,500,733 (GRCm39)	S95T	possibly damaging	Het
H2bc13	T	A	13: 21,900,027 (GRCm39)	Q96L	probably damaging	Het
Hs6st1	T	A	1: 36,142,657 (GRCm39)	H197Q	probably damaging	Het
Ism1	A	T	2: 139,573,994 (GRCm39)	I115F	possibly damaging	Het
Itgb8	C	T	12: 119,134,738 (GRCm39)	G443E	probably benign	Het
Kalrn	T	A	16: 33,795,954 (GRCm39)	I1274F	possibly damaging	Het
Lrrcc1	G	T	3: 14,613,174 (GRCm39)	V299L	probably benign	Het
Mettl5	A	T	2: 69,711,764 (GRCm39)		probably null	Het
Mtcl3	A	T	10: 29,023,318 (GRCm39)	T222S	probably benign	Het
Nlrp2	G	T	7: 5,330,490 (GRCm39)	N635K	possibly damaging	Het
Or4c3d	G	A	2: 89,881,957 (GRCm39)	T237I	probably benign	Het
Or5ac16	A	G	16: 59,022,043 (GRCm39)	S249P	probably damaging	Het
Or5b112	T	A	19: 13,319,882 (GRCm39)	Y253*	probably null	Het
Or8g18	G	C	9: 39,149,547 (GRCm39)	P58A	probably benign	Het
Plxna1	A	G	6: 89,297,748 (GRCm39)		probably benign	Het
Ppp4r1	A	T	17: 66,147,982 (GRCm39)	E924D	probably benign	Het
Prdm2	C	T	4: 142,858,533 (GRCm39)	V1586I	probably benign	Het
Pros1	A	G	16: 62,739,921 (GRCm39)	K457E	probably benign	Het
Rer1	T	A	4: 155,160,081 (GRCm39)	M156L	probably benign	Het
Rgs16	A	T	1: 153,619,414 (GRCm39)	K140M	probably damaging	Het
Rgsl1	A	G	1: 153,683,507 (GRCm39)	M1T	probably null	Het
Setdb2	T	A	14: 59,654,890 (GRCm39)	K333N	probably damaging	Het
Sgo2a	A	G	1: 58,057,124 (GRCm39)	T1103A	possibly damaging	Het
Sik3	C	T	9: 46,107,170 (GRCm39)		probably benign	Het
Slc44a3	C	A	3: 121,325,320 (GRCm39)	G47V	probably damaging	Het
Snrpd1	G	A	18: 10,627,818 (GRCm39)	G103D	probably benign	Het
Sspo	T	A	6: 48,425,560 (GRCm39)	S60R	probably benign	Het
Susd1	C	T	4: 59,424,114 (GRCm39)	C37Y	possibly damaging	Het
Tiam1	A	T	16: 89,695,109 (GRCm39)	I116N	probably benign	Het
Ttc3	A	G	16: 94,219,496 (GRCm39)	S492G	possibly damaging	Het
Uckl1	G	T	2: 181,215,169 (GRCm39)	T213K	probably damaging	Het
Usp38	T	C	8: 81,711,662 (GRCm39)	E791G	possibly damaging	Het
Vps13b	C	T	15: 35,422,600 (GRCm39)	R187C	probably damaging	Het
Vwa3a	A	G	7: 120,383,334 (GRCm39)	Y645C	probably damaging	Het

Other mutations in Wasf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Wasf3	APN	5	146,392,461 (GRCm39)	missense	probably damaging	1.00
IGL01992:Wasf3	APN	5	146,392,401 (GRCm39)	missense	probably damaging	1.00
IGL02866:Wasf3	APN	5	146,405,131 (GRCm39)	missense	probably benign	0.28
FR4737:Wasf3	UTSW	5	146,407,060 (GRCm39)	missense	probably damaging	0.99
R0622:Wasf3	UTSW	5	146,403,602 (GRCm39)	splice site	probably null
R1083:Wasf3	UTSW	5	146,372,182 (GRCm39)	missense	probably damaging	1.00
R1214:Wasf3	UTSW	5	146,407,098 (GRCm39)	missense	probably damaging	1.00
R1259:Wasf3	UTSW	5	146,388,786 (GRCm39)	missense	probably damaging	1.00
R1370:Wasf3	UTSW	5	146,407,018 (GRCm39)	splice site	probably benign
R1727:Wasf3	UTSW	5	146,403,769 (GRCm39)	missense	probably benign
R4837:Wasf3	UTSW	5	146,397,788 (GRCm39)	missense	probably benign	0.16
R5080:Wasf3	UTSW	5	146,397,907 (GRCm39)	missense	probably benign
R6046:Wasf3	UTSW	5	146,407,166 (GRCm39)	missense	unknown
R6386:Wasf3	UTSW	5	146,390,227 (GRCm39)	missense	possibly damaging	0.77
R7181:Wasf3	UTSW	5	146,403,615 (GRCm39)	missense	probably benign
R7229:Wasf3	UTSW	5	146,392,463 (GRCm39)	missense	probably damaging	1.00
R8438:Wasf3	UTSW	5	146,390,237 (GRCm39)	missense	probably benign
R8830:Wasf3	UTSW	5	146,403,672 (GRCm39)	nonsense	probably null
R8909:Wasf3	UTSW	5	146,392,410 (GRCm39)	missense
R9182:Wasf3	UTSW	5	146,403,635 (GRCm39)	nonsense	probably null
R9287:Wasf3	UTSW	5	146,397,857 (GRCm39)	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- CTGTCAAAGGGCAATGCTAAGTGC -3'
(R):5'- TGCCTCAGTCAGACCAGTCATTCTC -3'

Sequencing Primer
(F):5'- AGTGCTTCATGTTAAGCCACC -3'
(R):5'- GTCATTCTCATCAAACTCAGAGTCG -3'

Posted On

2014-02-11