Mutagenetix > Incidental Mutation

Incidental Mutation 'R4929:Wasf2'

381078

Institutional Source

Beutler Lab

Gene Symbol

Wasf2

Ensembl Gene

ENSMUSG00000028868

Gene Name

WASP family, member 2

Synonyms

D4Ertd13e, WAVE2

MMRRC Submission

042530-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4929 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132857843-132927067 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 132923170 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 493 (D493E)

Ref Sequence

ENSEMBL: ENSMUSP00000101532 (fasta)

Gene Model

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

AlphaFold

Q8BH43

Predicted Effect

unknown
Transcript: ENSMUST00000084241
AA Change: D493E

SMART Domains

Protein: ENSMUSP00000081263
Gene: ENSMUSG00000028868
AA Change: D493E

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: D493E

SMART Domains

Protein: ENSMUSP00000101532
Gene: ENSMUSG00000028868
AA Change: D493E

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

noncoding transcript
Transcript: ENSMUST00000184894

Meta Mutation Damage Score

0.1002

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

100% (66/66)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,273,467 (GRCm39)		noncoding transcript	Het
Abcd3	A	T	3: 121,562,395 (GRCm39)		probably null	Het
Adamts12	C	T	15: 11,259,108 (GRCm39)	R551C	probably damaging	Het
Adamtsl4	A	G	3: 95,585,315 (GRCm39)	C818R	probably damaging	Het
Arfgef3	T	A	10: 18,506,599 (GRCm39)	Q842L	probably benign	Het
Aurka	A	T	2: 172,212,326 (GRCm39)	V17E	probably benign	Het
Cdh24	C	T	14: 54,870,973 (GRCm39)	V132I	probably benign	Het
Cep57l1	T	C	10: 41,621,910 (GRCm39)	D2G	possibly damaging	Het
Cntn5	T	A	9: 9,976,400 (GRCm39)		probably null	Het
Col10a1	T	C	10: 34,271,120 (GRCm39)	I364T	probably benign	Het
Dpp6	G	A	5: 27,254,785 (GRCm39)	A67T	probably benign	Het
Dym	T	A	18: 75,376,357 (GRCm39)	V583E	probably damaging	Het
Efcab5	T	G	11: 76,994,209 (GRCm39)	K1259N	probably benign	Het
Ehbp1	T	G	11: 22,189,169 (GRCm39)	I78L	possibly damaging	Het
Epha1	C	A	6: 42,341,533 (GRCm39)	A469S	probably benign	Het
Fam135a	T	C	1: 24,069,081 (GRCm39)	D596G	probably benign	Het
Filip1	T	C	9: 79,727,029 (GRCm39)	N530S	probably benign	Het
Gm57858	G	A	3: 36,089,487 (GRCm39)	L146F	probably damaging	Het
Grhl2	A	G	15: 37,361,046 (GRCm39)	N610S	probably benign	Het
Haus6	T	C	4: 86,513,670 (GRCm39)	I331V	probably benign	Het
Ints2	G	T	11: 86,103,479 (GRCm39)	N1192K	possibly damaging	Het
Itga5	A	G	15: 103,261,662 (GRCm39)	V445A	probably benign	Het
Itga9	C	A	9: 118,636,317 (GRCm39)	D82E	probably damaging	Het
Jam2	G	A	16: 84,619,750 (GRCm39)		probably benign	Het
Klhl32	T	A	4: 24,709,030 (GRCm39)	I112F	probably damaging	Het
Lepr	A	G	4: 101,672,314 (GRCm39)	I1113V	probably benign	Het
Lrrc3b	C	A	14: 15,357,888 (GRCm38)	L239F	probably damaging	Het
Lzic	T	A	4: 149,572,585 (GRCm39)		probably null	Het
Mxra8	T	A	4: 155,927,118 (GRCm39)	F351I	probably damaging	Het
Naa40	A	G	19: 7,207,347 (GRCm39)	F126L	probably damaging	Het
Nbeal1	C	T	1: 60,277,813 (GRCm39)	S733F	probably damaging	Het
Olr1	T	C	6: 129,477,044 (GRCm39)	T74A	probably damaging	Het
Or52x1	A	G	7: 104,853,232 (GRCm39)	I106T	probably damaging	Het
Or5aq7	A	G	2: 86,938,527 (GRCm39)	F68S	possibly damaging	Het
Or5h17	A	C	16: 58,820,582 (GRCm39)	Y178S	probably damaging	Het
Pgam5	A	T	5: 110,413,691 (GRCm39)	V130D	probably damaging	Het
Pop4	A	G	7: 37,965,573 (GRCm39)	C115R	probably damaging	Het
Prpf18	A	T	2: 4,629,348 (GRCm39)		probably null	Het
Psg16	G	A	7: 16,829,031 (GRCm39)	R205H	possibly damaging	Het
Ptgr1	C	A	4: 58,981,879 (GRCm39)	A53S	probably benign	Het
Shank2	A	G	7: 143,965,008 (GRCm39)	D1451G	probably benign	Het
Slfn10-ps	A	G	11: 82,920,345 (GRCm39)		noncoding transcript	Het
Sox8	G	A	17: 25,789,330 (GRCm39)	A56V	probably benign	Het
Ssr3	A	G	3: 65,295,175 (GRCm39)	S113P	probably damaging	Het
Stx16	T	C	2: 173,938,721 (GRCm39)	Y296H	possibly damaging	Het
Tfcp2	A	T	15: 100,426,370 (GRCm39)	N60K	probably benign	Het
Thada	T	C	17: 84,751,654 (GRCm39)	T441A	probably benign	Het
Trf	G	T	9: 103,105,074 (GRCm39)		probably benign	Het
Vamp2	T	A	11: 68,979,488 (GRCm39)		probably benign	Het
Vmn2r105	A	T	17: 20,448,280 (GRCm39)	D181E	probably benign	Het
Vmn2r12	A	T	5: 109,239,544 (GRCm39)	Y340N	probably damaging	Het
Wdfy4	T	C	14: 32,769,213 (GRCm39)	D2084G	possibly damaging	Het
Zfp229	T	A	17: 21,965,354 (GRCm39)	I528N	probably damaging	Het
Zfp703	T	A	8: 27,468,879 (GRCm39)	V181E	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
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
R6889:Wasf2	UTSW	4	132,922,041 (GRCm39)	missense	unknown
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'- TGAGACTAGGGCTGTGCTTC -3'
(R):5'- CTAGATACGGTCACTTGAGGG -3'

Sequencing Primer
(F):5'- TAGGGCTGTGCTTCCTGCC -3'
(R):5'- TCAGCTGTGGACCCTCAG -3'

Posted On

2016-04-15