Mutagenetix > Incidental Mutation

Incidental Mutation 'R6803:Wasf2'

533428

Institutional Source

Beutler Lab

Gene Symbol

Wasf2

Ensembl Gene

ENSMUSG00000028868

Gene Name

WASP family, member 2

Synonyms

D4Ertd13e, WAVE2

MMRRC Submission

044916-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6803 (G1)

Quality Score

174.009

Status

Validated

Chromosome

Chromosomal Location

132857843-132927067 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 132922220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000101532 (fasta)

Gene Model

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

AlphaFold

Q8BH43

Predicted Effect

probably null
Transcript: ENSMUST00000084241

SMART Domains

Protein: ENSMUSP00000081263
Gene: ENSMUSG00000028868

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

probably null
Transcript: ENSMUST00000105912

SMART Domains

Protein: ENSMUSP00000101532
Gene: ENSMUSG00000028868

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

Meta Mutation Damage Score

0.9595

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 98.0%
20x: 94.7%

Validation Efficiency

100% (52/52)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg9	A	C	9: 50,700,860 (GRCm39)	D210A	probably benign	Het
As3mt	T	G	19: 46,698,020 (GRCm39)	M120R	probably benign	Het
Baz1a	T	A	12: 54,988,340 (GRCm39)	S270C	probably null	Het
Car5a	A	C	8: 122,650,504 (GRCm39)		probably null	Het
Ccdc187	T	A	2: 26,179,791 (GRCm39)	T223S	probably benign	Het
Cel	T	C	2: 28,448,060 (GRCm39)	N322S	probably benign	Het
Chd6	T	C	2: 160,802,279 (GRCm39)	E2185G	possibly damaging	Het
Clcnkb	T	C	4: 141,132,639 (GRCm39)	T597A	probably benign	Het
Cntnap1	A	G	11: 101,068,060 (GRCm39)	Y24C	possibly damaging	Het
Cog3	A	G	14: 75,941,479 (GRCm39)	S817P	probably benign	Het
Col8a2	A	G	4: 126,205,793 (GRCm39)	Y601C	probably damaging	Het
Cpm	G	T	10: 117,512,002 (GRCm39)		probably null	Het
Cpt2	T	C	4: 107,769,861 (GRCm39)	N79S	probably damaging	Het
Dnah17	T	C	11: 118,016,198 (GRCm39)	T314A	probably benign	Het
Dnm1	C	A	2: 32,202,766 (GRCm39)	V46F	probably damaging	Het
Fat3	C	T	9: 15,908,083 (GRCm39)	V2640M	probably damaging	Het
Fbxl2	A	T	9: 113,813,617 (GRCm39)	C296S	probably damaging	Het
Fcgbp	A	G	7: 27,802,637 (GRCm39)	T1522A	probably benign	Het
Foxl2	A	C	9: 98,837,985 (GRCm39)	K91T	probably damaging	Het
Hdac11	G	T	6: 91,143,247 (GRCm39)	R131L	probably damaging	Het
Ipo11	T	C	13: 106,993,766 (GRCm39)	I723V	probably benign	Het
Klhl33	A	G	14: 51,134,192 (GRCm39)	L150P	probably damaging	Het
Klk1b11	A	G	7: 43,647,261 (GRCm39)	H65R	probably damaging	Het
Larp7	T	C	3: 127,330,685 (GRCm39)		probably null	Het
Ldlrad3	T	C	2: 101,943,892 (GRCm39)	D60G	possibly damaging	Het
Mlip	A	T	9: 77,097,663 (GRCm39)	H177Q	probably damaging	Het
Mrnip	A	G	11: 50,090,730 (GRCm39)	D298G	probably benign	Het
Npas2	A	C	1: 39,375,130 (GRCm39)	S483R	probably benign	Het
Nrg3	C	A	14: 38,733,957 (GRCm39)	E310*	probably null	Het
Omg	T	A	11: 79,393,094 (GRCm39)	T255S	possibly damaging	Het
Or2y12	T	A	11: 49,426,432 (GRCm39)	L140H	probably damaging	Het
Or56b1b	G	T	7: 108,164,620 (GRCm39)	D127E	probably damaging	Het
Plekhg6	T	C	6: 125,340,626 (GRCm39)	D578G	probably damaging	Het
Pygo1	A	G	9: 72,850,267 (GRCm39)	K39E	probably damaging	Het
Rell2	A	G	18: 38,089,994 (GRCm39)	D66G	probably damaging	Het
Samd9l	A	T	6: 3,375,446 (GRCm39)	I605K	probably damaging	Het
Sema6d	T	C	2: 124,505,970 (GRCm39)	S593P	probably damaging	Het
Sf3b3	A	G	8: 111,552,210 (GRCm39)	V545A	probably benign	Het
Speer4f1	T	A	5: 17,684,388 (GRCm39)		probably null	Het
Spem1	T	C	11: 69,711,974 (GRCm39)	E230G	possibly damaging	Het
Sphkap	A	G	1: 83,258,231 (GRCm39)	F171L	probably damaging	Het
Tbc1d13	T	C	2: 30,025,522 (GRCm39)		probably benign	Het
Tmem222	A	T	4: 132,994,154 (GRCm39)	N206K	probably benign	Het
Trnau1ap	C	T	4: 132,049,081 (GRCm39)	V41M	probably damaging	Het
Ttn	C	T	2: 76,769,387 (GRCm39)		probably null	Het
Ubr3	T	C	2: 69,766,368 (GRCm39)		probably null	Het
Uox	T	G	3: 146,318,264 (GRCm39)	V55G	possibly damaging	Het
Vmn2r24	A	T	6: 123,755,960 (GRCm39)	I11F	possibly damaging	Het
Wdr97	A	G	15: 76,240,776 (GRCm39)	Y488C	probably damaging	Het
Zbtb4	T	C	11: 69,669,454 (GRCm39)	S726P	possibly damaging	Het
Zfp534	C	T	4: 147,758,926 (GRCm39)	C581Y	probably damaging	Het
Zfp551	A	T	7: 12,151,108 (GRCm39)	C100*	probably null	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
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'- TTTGTCCCAACCGTCTGGAG -3'
(R):5'- CAAGGAATTCTAGGGTCCCAGC -3'

Sequencing Primer
(F):5'- AACCGTCTGGAGGTGCTC -3'
(R):5'- TCTAGGGTCCCAGCTTAAAAAG -3'

Posted On

2018-09-12