Mutagenetix > Incidental Mutation

Incidental Mutation 'R8909:Wasf3'

678501

Institutional Source

Beutler Lab

Gene Symbol

Wasf3

Ensembl Gene

ENSMUSG00000029636

Gene Name

WASP family, member 3

Synonyms

Wave3

MMRRC Submission

068700-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8909 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146321795-146410425 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 146392410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 160 (L160P)

Ref Sequence

ENSEMBL: ENSMUSP00000016143 (fasta)

Gene Model

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

AlphaFold

Q8VHI6

Predicted Effect

SMART Domains

Protein: ENSMUSP00000016143
Gene: ENSMUSG00000029636
AA Change: L160P

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

Meta Mutation Damage Score

0.6782

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (47/49)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aopep	G	T	13: 63,388,111 (GRCm39)	R698L	possibly damaging	Het
Btnl10	T	C	11: 58,813,198 (GRCm39)	C276R	probably benign	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Cavin4	G	A	4: 48,672,421 (GRCm39)	G289R	probably benign	Het
Cdh9	T	C	15: 16,848,610 (GRCm39)	F430S	probably damaging	Het
Cfh	A	G	1: 140,014,086 (GRCm39)	I1246T	possibly damaging	Het
Chd8	C	T	14: 52,450,389 (GRCm39)	V1490M	possibly damaging	Het
Clec2g	A	G	6: 128,958,195 (GRCm39)	N137S	probably benign	Het
Cntn6	T	A	6: 104,825,093 (GRCm39)	S878T	probably benign	Het
Cryga	G	T	1: 65,142,173 (GRCm39)	S73R	probably benign	Het
Dach1	T	C	14: 98,406,120 (GRCm39)	D209G	probably damaging	Het
Dnai4	T	G	4: 102,944,607 (GRCm39)	E248A	possibly damaging	Het
Duox2	A	G	2: 122,126,862 (GRCm39)	S218P	probably benign	Het
Fbn2	T	A	18: 58,192,508 (GRCm39)	Q1491L	possibly damaging	Het
Foxg1	CCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGC	12: 49,431,475 (GRCm39)		probably benign	Het
Glra3	A	T	8: 56,444,159 (GRCm39)		probably null	Het
Helz	A	G	11: 107,556,834 (GRCm39)	D1284G	possibly damaging	Het
Iqsec3	G	A	6: 121,390,118 (GRCm39)	A451V	unknown	Het
Kat6b	A	G	14: 21,719,214 (GRCm39)	T1189A	probably benign	Het
Lama1	T	A	17: 68,079,736 (GRCm39)	F1203Y		Het
Lingo2	A	G	4: 35,708,349 (GRCm39)	S544P	probably damaging	Het
Llcfc1	T	C	6: 41,661,525 (GRCm39)	V25A	probably benign	Het
Map1a	A	C	2: 121,129,391 (GRCm39)	H143P	probably damaging	Het
Mbd5	T	C	2: 49,169,233 (GRCm39)	V1468A	probably benign	Het
Meis3	T	A	7: 15,919,385 (GRCm39)	M367K	possibly damaging	Het
Myo3b	G	A	2: 70,083,440 (GRCm39)	A698T	probably damaging	Het
Nbn	A	T	4: 15,970,833 (GRCm39)	D272V	probably damaging	Het
Or51a43	A	G	7: 103,718,032 (GRCm39)	S69P	probably damaging	Het
Or56a5	C	T	7: 104,793,249 (GRCm39)	V84I	probably benign	Het
Or7g20	G	T	9: 18,946,888 (GRCm39)	M156I	probably benign	Het
Or8k27	C	T	2: 86,276,082 (GRCm39)	M81I	possibly damaging	Het
Os9	C	A	10: 126,956,825 (GRCm39)		probably null	Het
Pard3b	A	G	1: 62,383,294 (GRCm39)	D796G	probably benign	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm39)		probably benign	Het
Pkp4	A	G	2: 59,184,758 (GRCm39)	E1180G	possibly damaging	Het
Plod1	T	A	4: 148,011,563 (GRCm39)	K221*	probably null	Het
Ppp6r3	T	C	19: 3,509,461 (GRCm39)	T795A	probably benign	Het
Pramel15	T	C	4: 144,103,553 (GRCm39)	Q191R	probably benign	Het
Prokr2	T	C	2: 132,215,723 (GRCm39)	E246G	probably damaging	Het
Psmb7	A	G	2: 38,503,481 (GRCm39)	M178T	probably damaging	Het
Rbm39	C	T	2: 156,019,697 (GRCm39)		probably benign	Het
Saa1	T	C	7: 46,390,773 (GRCm39)	N46S	probably benign	Het
Samd12	A	G	15: 53,521,853 (GRCm39)	L119P	probably damaging	Het
Sdc3	A	G	4: 130,546,094 (GRCm39)	E151G	unknown	Het
Serpina1a	T	C	12: 103,820,938 (GRCm39)	K370E	probably damaging	Het
Slc49a3	C	T	5: 108,592,432 (GRCm39)	V253I	probably benign	Het
Tnrc18	C	A	5: 142,762,131 (GRCm39)	S681I		Het
Ulk2	C	T	11: 61,690,380 (GRCm39)	G636R	probably benign	Het
V1ra8	T	C	6: 90,179,938 (GRCm39)	L47P	possibly damaging	Het
Zbtb34	A	C	2: 33,301,701 (GRCm39)	V280G	possibly damaging	Het
Zfp646	T	C	7: 127,478,515 (GRCm39)	Y231H	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
R1355:Wasf3	UTSW	5	146,407,018 (GRCm39)	splice site	probably benign
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
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'- TTCCAAATGAGGAAGCTCAGGG -3'
(R):5'- GCTTGTCATGCGAAAGGAG -3'

Sequencing Primer
(F):5'- GCTCAGGGTCTAATACATAAGGTG -3'
(R):5'- TCATGCGAAAGGAGGACACCC -3'

Posted On

2021-08-02