Mutagenetix > Incidental Mutation

Incidental Mutation 'R8438:Wasf3'

654093

Institutional Source

Beutler Lab

Gene Symbol

Wasf3

Ensembl Gene

ENSMUSG00000029636

Gene Name

WASP family, member 3

Synonyms

Wave3

MMRRC Submission

067778-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8438 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

146321795-146410425 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 146390237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 127 (Q127L)

Ref Sequence

ENSEMBL: ENSMUSP00000016143 (fasta)

Gene Model

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

AlphaFold

Q8VHI6

Predicted Effect

probably benign
Transcript: ENSMUST00000016143
AA Change: Q127L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000016143
Gene: ENSMUSG00000029636
AA Change: Q127L

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	C	T	9: 15,201,962 (GRCm39)		probably null	Het
5730480H06Rik	A	T	5: 48,534,425 (GRCm39)	H95L	probably damaging	Het
Abca8a	A	G	11: 109,966,404 (GRCm39)	Y410H	probably damaging	Het
Abcb4	G	A	5: 8,996,120 (GRCm39)		probably null	Het
Adam8	C	T	7: 139,565,249 (GRCm39)		probably null	Het
Aldh1l1	C	T	6: 90,536,428 (GRCm39)	P111L	probably damaging	Het
Baz2b	G	T	2: 59,747,828 (GRCm39)	Y1278*	probably null	Het
Bsn	G	A	9: 107,988,651 (GRCm39)	A2367V	probably benign	Het
Casp9	C	A	4: 141,540,934 (GRCm39)	T434N	probably benign	Het
Cd19	C	A	7: 126,013,515 (GRCm39)	M91I	possibly damaging	Het
Celsr2	G	A	3: 108,301,139 (GRCm39)	T2718M	probably damaging	Het
Clptm1	G	T	7: 19,379,776 (GRCm39)	D153E	probably benign	Het
Col1a2	G	A	6: 4,515,517 (GRCm39)	G127S	unknown	Het
Col1a2	G	T	6: 4,515,518 (GRCm39)	G127V	unknown	Het
Crybg3	A	G	16: 59,385,655 (GRCm39)	S190P	probably benign	Het
Ddrgk1	G	A	2: 130,505,302 (GRCm39)		probably benign	Het
Dennd1a	T	C	2: 37,746,150 (GRCm39)	H402R	probably benign	Het
Dgat2	T	C	7: 98,806,207 (GRCm39)	Y330C	probably damaging	Het
Dnah7b	G	A	1: 46,227,839 (GRCm39)	C1354Y	probably damaging	Het
Ecd	T	A	14: 20,388,533 (GRCm39)	I119L	possibly damaging	Het
Entpd1	A	G	19: 40,725,224 (GRCm39)	K437E	possibly damaging	Het
Fcgbp	C	T	7: 27,789,231 (GRCm39)	A599V	probably benign	Het
Gtf3c1	G	T	7: 125,241,701 (GRCm39)	S1999*	probably null	Het
Hesx1	C	T	14: 26,723,460 (GRCm39)	R97C	probably benign	Het
Hmcn2	C	A	2: 31,281,088 (GRCm39)	L1867I	probably benign	Het
Hoxb3	A	G	11: 96,236,609 (GRCm39)	N229S	probably benign	Het
Itpk1	G	A	12: 102,572,418 (GRCm39)		probably benign	Het
Itprid1	C	T	6: 55,874,878 (GRCm39)	S276L	probably damaging	Het
Masp1	T	C	16: 23,289,153 (GRCm39)	D549G	probably benign	Het
Mef2c	A	G	13: 83,804,336 (GRCm39)	E312G	probably damaging	Het
Morn5	A	G	2: 35,945,076 (GRCm39)	K100R	probably benign	Het
Mphosph9	A	T	5: 124,430,455 (GRCm39)	D610E	probably benign	Het
Obox6	G	C	7: 15,567,853 (GRCm39)	A198G	probably damaging	Het
Or2t43	A	T	11: 58,457,665 (GRCm39)	S169T	possibly damaging	Het
Or4a75	C	T	2: 89,448,054 (GRCm39)	V161M	possibly damaging	Het
Or4a80	A	T	2: 89,583,061 (GRCm39)	M37K	probably damaging	Het
Or6b13	C	A	7: 139,782,170 (GRCm39)	C171F	probably damaging	Het
Pcdhgb2	A	G	18: 37,825,232 (GRCm39)	N741S	probably benign	Het
Plekhh2	A	G	17: 84,877,379 (GRCm39)	N575D	probably benign	Het
Plxna4	C	A	6: 32,179,115 (GRCm39)	G967W	probably damaging	Het
Ppp3cb	C	T	14: 20,565,658 (GRCm39)	M373I	probably damaging	Het
Sec14l2	C	A	11: 4,059,202 (GRCm39)	E156*	probably null	Het
Srrt	A	T	5: 137,301,262 (GRCm39)	Y55N	unknown	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Thada	G	A	17: 84,743,057 (GRCm39)	T789I	probably damaging	Het
Top3b	G	T	16: 16,709,364 (GRCm39)	S684I	probably benign	Het
Trpc4	A	G	3: 54,129,674 (GRCm39)	I147V	possibly damaging	Het
Tubgcp5	T	A	7: 55,454,363 (GRCm39)	H219Q	possibly damaging	Het
Uck1	C	A	2: 32,150,153 (GRCm39)		probably benign	Het
Vmn1r31	T	A	6: 58,449,646 (GRCm39)	D73V		Het
Xpo6	T	C	7: 125,760,054 (GRCm39)	T182A	possibly damaging	Het
Xpo7	C	A	14: 70,940,672 (GRCm39)	R139S	probably benign	Het
Zfp687	A	T	3: 94,915,433 (GRCm39)	S1058T	probably benign	Het
Zfp786	T	C	6: 47,796,934 (GRCm39)	E668G	probably damaging	Het
Zfp831	A	T	2: 174,486,796 (GRCm39)	R490S	possibly 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
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'- AGCCAGTGTTGAGTCATTCTGG -3'
(R):5'- ACTGGGTATGATACAGCAGTTACTG -3'

Sequencing Primer
(F):5'- CCAGTGTTGAGTCATTCTGGAAGATG -3'
(R):5'- CAGAGTGTTCTTTTTCAACCCATAGG -3'

Posted On

2020-10-20