Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01784:Wasf2'

154236

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wasf2

Ensembl Gene

ENSMUSG00000028868

Gene Name

WASP family, member 2

Synonyms

D4Ertd13e, WAVE2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01784

Quality Score

Status

Chromosome

Chromosomal Location

132857843-132927067 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132919439 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 231 (Q231R)

Ref Sequence

ENSEMBL: ENSMUSP00000101532 (fasta)

Gene Model

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

AlphaFold

Q8BH43

Predicted Effect

unknown
Transcript: ENSMUST00000084241
AA Change: Q231R

SMART Domains

Protein: ENSMUSP00000081263
Gene: ENSMUSG00000028868
AA Change: Q231R

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: Q231R

SMART Domains

Protein: ENSMUSP00000101532
Gene: ENSMUSG00000028868
AA Change: Q231R

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: ENSMUST00000136637

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184894

Coding Region Coverage

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	T	11: 58,771,445 (GRCm39)	P309L	possibly damaging	Het
Abca4	A	T	3: 121,932,154 (GRCm39)	K269N	probably benign	Het
Abcb5	T	C	12: 118,854,399 (GRCm39)	T839A	probably benign	Het
Adcy7	A	G	8: 89,040,751 (GRCm39)	D30G	probably damaging	Het
Aldh3b1	A	G	19: 3,971,217 (GRCm39)	I149T	probably benign	Het
Ap3b1	A	G	13: 94,630,247 (GRCm39)	D199G	probably damaging	Het
Cplx3	T	C	9: 57,527,847 (GRCm39)	Y36C	probably damaging	Het
Ddo	A	G	10: 40,507,784 (GRCm39)		probably benign	Het
Ensa	T	A	3: 95,535,844 (GRCm39)		probably benign	Het
Etnppl	A	G	3: 130,425,427 (GRCm39)	I405V	possibly damaging	Het
Fam171b	T	A	2: 83,710,031 (GRCm39)	L568M	possibly damaging	Het
Fmn2	A	G	1: 174,329,994 (GRCm39)	D128G	unknown	Het
Fra10ac1	T	A	19: 38,208,125 (GRCm39)	H43L	probably benign	Het
Gm7589	T	C	9: 59,053,310 (GRCm39)		noncoding transcript	Het
Gsx1	A	G	5: 147,126,939 (GRCm39)	D254G	probably benign	Het
Hoxb6	A	G	11: 96,191,639 (GRCm39)	E187G	probably damaging	Het
Kmt2c	A	T	5: 25,518,524 (GRCm39)	I2385N	probably damaging	Het
Mc3r	T	A	2: 172,091,290 (GRCm39)	C171S	probably benign	Het
Mccc1	T	G	3: 36,030,897 (GRCm39)	N390H	probably damaging	Het
Mphosph9	T	C	5: 124,403,373 (GRCm39)		probably benign	Het
Nfic	T	C	10: 81,241,982 (GRCm39)	D364G	possibly damaging	Het
Niban1	T	A	1: 151,525,116 (GRCm39)	Y174N	probably damaging	Het
Npy	A	G	6: 49,806,314 (GRCm39)		probably benign	Het
Or6c8	C	T	10: 128,915,224 (GRCm39)	V203M	probably benign	Het
Osbpl3	A	G	6: 50,321,902 (GRCm39)	S75P	probably damaging	Het
Plekhg4	G	T	8: 106,105,589 (GRCm39)	A685S	probably damaging	Het
Pramel51	A	G	12: 88,143,085 (GRCm39)	Y178H	probably benign	Het
Prss53	T	C	7: 127,485,724 (GRCm39)	T539A	probably benign	Het
Rnf43	T	A	11: 87,622,632 (GRCm39)	S537T	possibly damaging	Het
Rpgrip1l	G	A	8: 91,997,089 (GRCm39)	T597I	possibly damaging	Het
Rtn4	C	A	11: 29,657,291 (GRCm39)	Q482K	probably damaging	Het
Sema3g	T	C	14: 30,944,924 (GRCm39)	I349T	probably damaging	Het
Sh3gl1	A	C	17: 56,326,325 (GRCm39)	S108A	possibly damaging	Het
Tmc7	A	T	7: 118,146,538 (GRCm39)		probably null	Het
Tmem131	G	A	1: 36,854,564 (GRCm39)	T131I	probably damaging	Het
Vac14	T	C	8: 111,397,800 (GRCm39)	L505P	probably benign	Het
Wnt7a	A	G	6: 91,342,839 (GRCm39)	C348R	probably damaging	Het
Zkscan6	T	A	11: 65,705,547 (GRCm39)	L86Q	probably damaging	Het

Other mutations in Wasf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2014-02-04