Mutagenetix > Incidental Mutation

Incidental Mutation 'R6889:Wasf2'

537093

Institutional Source

Beutler Lab

Gene Symbol

Wasf2

Ensembl Gene

ENSMUSG00000028868

Gene Name

WASP family, member 2

Synonyms

D4Ertd13e, WAVE2

MMRRC Submission

044983-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6889 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

132857843-132927067 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 132922041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 387 (A387S)

Ref Sequence

ENSEMBL: ENSMUSP00000101532 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084241] [ENSMUST00000105912]

AlphaFold

Q8BH43

Predicted Effect

unknown
Transcript: ENSMUST00000084241
AA Change: A387S

SMART Domains

Protein: ENSMUSP00000081263
Gene: ENSMUSG00000028868
AA Change: A387S

Domain	Start	End	E-Value	Type
PDB:4N78\|D	1	219	4e-90	PDB
low complexity region	243	263	N/A	INTRINSIC
low complexity region	293	403	N/A	INTRINSIC
low complexity region	411	419	N/A	INTRINSIC
WH2	435	452	7.02e-5	SMART
low complexity region	481	497	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000105912
AA Change: A387S

SMART Domains

Protein: ENSMUSP00000101532
Gene: ENSMUSG00000028868
AA Change: A387S

Domain	Start	End	E-Value	Type
PDB:4N78\|D	1	219	4e-90	PDB
low complexity region	243	263	N/A	INTRINSIC
low complexity region	293	403	N/A	INTRINSIC
low complexity region	411	419	N/A	INTRINSIC
WH2	435	452	7.02e-5	SMART
low complexity region	481	497	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

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. The published map location (PMID:10381382) has been changed based on recent genomic sequence comparisons, which indicate that the expressed gene is located on chromosome 1, and a pseudogene may be located on chromosome X. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Homozygous mutants show impaired embryonic development and do not survive to term. In addition to reduced embryo size, observed defects include hemorrhaging, abnormal somite development, perturbed angiogenesis, and shrunken cerebral ventricles. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	T	4: 73,861,290 (GRCm39)	D103E	probably benign	Het
Abcc3	A	T	11: 94,266,381 (GRCm39)	S70T	possibly damaging	Het
Atp6v0a1	A	G	11: 100,920,009 (GRCm39)	Y214C	possibly damaging	Het
Azi2	A	G	9: 117,878,963 (GRCm39)		probably null	Het
Cacnb2	T	A	2: 14,990,826 (GRCm39)	V636E	possibly damaging	Het
Cd8a	A	C	6: 71,351,546 (GRCm39)	T169P	probably damaging	Het
Cfap44	G	A	16: 44,224,495 (GRCm39)	V68I	probably benign	Het
Cspg4b	C	A	13: 113,454,912 (GRCm39)	S319R	probably damaging	Het
Dnaaf10	G	A	11: 17,172,309 (GRCm39)	V133M	probably damaging	Het
Eea1	G	T	10: 95,873,340 (GRCm39)	C1134F	probably benign	Het
Ehmt2	T	G	17: 35,131,748 (GRCm39)	F1192V	probably damaging	Het
Emc1	T	C	4: 139,092,661 (GRCm39)	F531L	probably damaging	Het
Eme1	G	A	11: 94,541,303 (GRCm39)	T173I	probably benign	Het
Gli2	A	T	1: 118,772,146 (GRCm39)	C520S	probably damaging	Het
Gm43302	T	C	5: 105,428,004 (GRCm39)	K186E	probably benign	Het
Gpr108	A	T	17: 57,543,990 (GRCm39)	N405K	probably damaging	Het
Hmgcl	C	A	4: 135,682,953 (GRCm39)	T135N	probably benign	Het
Hydin	G	A	8: 111,259,488 (GRCm39)	D2487N	possibly damaging	Het
Igfl3	G	T	7: 17,913,725 (GRCm39)	R25L	probably benign	Het
Igsf10	A	C	3: 59,239,354 (GRCm39)	S276A	probably benign	Het
Kctd1	A	G	18: 15,107,045 (GRCm39)	S211P	probably damaging	Het
Kctd7	A	T	5: 130,181,342 (GRCm39)	Q255L	probably benign	Het
Lrig1	A	G	6: 94,602,044 (GRCm39)	Y270H	probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Myh15	A	G	16: 48,973,474 (GRCm39)	N1248S	possibly damaging	Het
Nod1	A	G	6: 54,921,094 (GRCm39)	F408S	probably benign	Het
Nrp1	T	C	8: 129,219,538 (GRCm39)	F652S	probably damaging	Het
Opa1	G	T	16: 29,439,686 (GRCm39)	R792L	probably benign	Het
Or10ak14	G	A	4: 118,611,504 (GRCm39)	T79I	probably damaging	Het
Or51t4	A	T	7: 102,597,975 (GRCm39)	H91L	possibly damaging	Het
Or5p63	A	T	7: 107,811,125 (GRCm39)	F204I	probably benign	Het
Or6c74	T	C	10: 129,870,401 (GRCm39)	M302T	probably benign	Het
Pcdha6	G	T	18: 37,101,396 (GRCm39)	L196F	probably damaging	Het
Pdia2	A	T	17: 26,415,944 (GRCm39)	Y347*	probably null	Het
Pdpr	G	T	8: 111,851,245 (GRCm39)		probably null	Het
Pigt	T	A	2: 164,349,251 (GRCm39)	L518Q	probably damaging	Het
Ppfibp2	A	C	7: 107,337,188 (GRCm39)	D591A	possibly damaging	Het
Prrg2	G	A	7: 44,709,413 (GRCm39)	T97M	possibly damaging	Het
Qars1	A	G	9: 108,390,382 (GRCm39)	T428A	probably damaging	Het
Rai1	T	C	11: 60,076,541 (GRCm39)	F202L	probably damaging	Het
Rars1	A	T	11: 35,699,313 (GRCm39)	M660K	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,132 (GRCm39)		probably benign	Het
Slc16a6	A	C	11: 109,345,866 (GRCm39)	F382V	probably damaging	Het
Slc30a7	T	C	3: 115,747,802 (GRCm39)	T330A	probably damaging	Het
Smc1b	A	T	15: 84,951,960 (GRCm39)	L1157Q	probably damaging	Het
Snx4	G	T	16: 33,071,840 (GRCm39)	A4S	possibly damaging	Het
Sv2b	A	C	7: 74,775,515 (GRCm39)		probably null	Het
Syt9	A	T	7: 107,024,493 (GRCm39)	I129L	probably damaging	Het
Ttbk2	T	C	2: 120,603,834 (GRCm39)	E198G	probably damaging	Het
Ubr3	A	T	2: 69,774,644 (GRCm39)	D488V	possibly damaging	Het
Ush2a	T	A	1: 188,530,068 (GRCm39)	C3286S	probably damaging	Het
Vill	A	G	9: 118,894,950 (GRCm39)	D56G	possibly damaging	Het
Vmn1r41	A	T	6: 89,724,352 (GRCm39)	I298F	probably damaging	Het
Vmn2r2	A	T	3: 64,024,688 (GRCm39)	V631D	probably damaging	Het
Vmn2r32	A	G	7: 7,475,573 (GRCm39)	S437P	possibly damaging	Het
Vmn2r53	A	G	7: 12,335,069 (GRCm39)	V197A	probably benign	Het
Wasf1	A	T	10: 40,796,365 (GRCm39)	I32F	probably damaging	Het
Zbtb14	G	A	17: 69,694,674 (GRCm39)	C124Y	probably damaging	Het
Zfp462	G	T	4: 55,007,671 (GRCm39)	A37S	probably damaging	Het
Zfp532	A	G	18: 65,820,061 (GRCm39)	E882G	possibly damaging	Het

Other mutations in Wasf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01784:Wasf2	APN	4	132,919,439 (GRCm39)	missense	unknown
IGL02028:Wasf2	APN	4	132,923,112 (GRCm39)	missense	probably damaging	1.00
IGL03196:Wasf2	APN	4	132,921,732 (GRCm39)	missense	unknown
IGL03225:Wasf2	APN	4	132,903,857 (GRCm39)	missense	probably benign
Syndrome	UTSW	4	132,922,220 (GRCm39)	critical splice donor site	probably null
R1551:Wasf2	UTSW	4	132,917,483 (GRCm39)	missense	unknown
R1646:Wasf2	UTSW	4	132,903,902 (GRCm39)	missense	probably benign	0.25
R4776:Wasf2	UTSW	4	132,912,315 (GRCm39)	missense	probably benign
R4929:Wasf2	UTSW	4	132,923,170 (GRCm39)	missense	unknown
R5042:Wasf2	UTSW	4	132,903,875 (GRCm39)	missense	probably benign	0.37
R6803:Wasf2	UTSW	4	132,922,220 (GRCm39)	critical splice donor site	probably null
R7208:Wasf2	UTSW	4	132,923,045 (GRCm39)	missense	probably damaging	1.00
R7421:Wasf2	UTSW	4	132,912,412 (GRCm39)	missense	unknown
R8477:Wasf2	UTSW	4	132,912,412 (GRCm39)	missense	unknown
R8707:Wasf2	UTSW	4	132,917,540 (GRCm39)	missense	unknown
R9566:Wasf2	UTSW	4	132,921,766 (GRCm39)	missense	unknown
R9650:Wasf2	UTSW	4	132,917,457 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATGAGTGTGCCACCTCCACTAC -3'
(R):5'- AGCATCTCAGCTAAGGGTGC -3'

Sequencing Primer
(F):5'- CCATCGATGGGATTCGGGTCTC -3'
(R):5'- CTAAGGGTGCGTGTCCTCAGATC -3'

Posted On

2018-10-18