Mutagenetix > Incidental Mutation

Incidental Mutation 'R4952:Wasf1'

382071

Institutional Source

Beutler Lab

Gene Symbol

Wasf1

Ensembl Gene

ENSMUSG00000019831

Gene Name

WAS protein family, member 1

Synonyms

WAVE-1, Scar, WAVE

MMRRC Submission

042549-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.478) question?

Stock #

R4952 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40883475-40938570 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 40936190 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 325 (P325Q)

Ref Sequence

ENSEMBL: ENSMUSP00000101148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019975] [ENSMUST00000105509]

AlphaFold

Q8R5H6

Predicted Effect

unknown
Transcript: ENSMUST00000019975
AA Change: P325Q

SMART Domains

Protein: ENSMUSP00000019975
Gene: ENSMUSG00000019831
AA Change: P325Q

Domain	Start	End	E-Value	Type
PDB:4N78\|D	1	320	N/A	PDB
low complexity region	321	401	N/A	INTRINSIC
low complexity region	423	435	N/A	INTRINSIC
low complexity region	462	482	N/A	INTRINSIC
WH2	497	514	4.32e-5	SMART
low complexity region	544	556	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000105509
AA Change: P325Q

SMART Domains

Protein: ENSMUSP00000101148
Gene: ENSMUSG00000019831
AA Change: P325Q

Domain	Start	End	E-Value	Type
PDB:4N78\|D	1	320	N/A	PDB
low complexity region	321	401	N/A	INTRINSIC
low complexity region	423	435	N/A	INTRINSIC
low complexity region	462	482	N/A	INTRINSIC
WH2	497	514	4.32e-5	SMART
low complexity region	544	556	N/A	INTRINSIC

Meta Mutation Damage Score

0.0865

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.0%

Validation Efficiency

99% (93/94)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, a member of the Wiskott-Aldrich syndrome protein (WASP)-family, plays a critical role downstream of Rac, a Rho-family small GTPase, in regulating the actin cytoskeleton required for membrane ruffling. It has been shown to associate with an actin nucleation core Arp2/3 complex while enhancing actin polymerization in vitro. Wiskott-Aldrich syndrome is a disease of the immune system, likely due to defects in regulation of actin cytoskeleton. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutation of this gene has been associated with both morphological and functional defects of the central nervous system. Targeted mutagenesis has resulted in mice that display sensorimotor and cognitive defects similar to those exhibited by patients with 3p-syndrome mental retardation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	G	5: 109,739,197		probably null	Het
4933421I07Rik	T	C	7: 42,447,659	Y76C	possibly damaging	Het
Adcy4	C	T	14: 55,779,029	D322N	probably damaging	Het
Ak9	A	G	10: 41,420,589	M1444V	probably benign	Het
Amfr	A	G	8: 93,973,159		probably benign	Het
Ankef1	A	G	2: 136,550,529	E546G	probably damaging	Het
Ankrd24	A	G	10: 81,647,148	M977V	probably benign	Het
Ap3m1	A	T	14: 21,040,066	S5T	probably benign	Het
Aqr	C	A	2: 114,109,937	D1243Y	probably damaging	Het
Arhgef2	T	C	3: 88,642,462	L591P	probably damaging	Het
Arid4a	C	A	12: 71,023,525	T70K	possibly damaging	Het
Asphd1	C	T	7: 126,948,685	A149T	probably benign	Het
Avpr1a	T	A	10: 122,449,754	M317K	probably damaging	Het
Birc2	T	C	9: 7,836,740	I109V	probably damaging	Het
Catsperd	A	G	17: 56,632,303	Y44C	probably damaging	Het
Ccdc114	A	C	7: 45,942,191	E293A	probably damaging	Het
Crygb	T	G	1: 65,082,109	S20R	probably benign	Het
Cyp3a25	T	C	5: 145,991,524	N237S	probably benign	Het
Dkk3	C	T	7: 112,118,351	A304T	probably benign	Het
Dst	T	C	1: 34,271,422	L4101S	probably damaging	Het
Dysf	A	G	6: 84,149,986	N1407S	possibly damaging	Het
Epb41	A	G	4: 132,000,270	V265A	probably damaging	Het
Faim2	C	T	15: 99,521,228	E75K	possibly damaging	Het
Fbn1	T	A	2: 125,317,534	D2208V	probably damaging	Het
Fbxo28	A	G	1: 182,326,385	S129P	probably damaging	Het
Fbxw14	T	A	9: 109,276,201	I299L	probably benign	Het
Fras1	C	T	5: 96,647,498	A1050V	probably benign	Het
Fyb	C	A	15: 6,638,811	T495K	probably damaging	Het
Ghdc	A	T	11: 100,769,151	W257R	probably damaging	Het
Gm10719	T	C	9: 3,018,962	L69S	probably benign	Het
Gm11492	A	G	11: 87,567,772	N324S	probably benign	Het
Gm12250	G	T	11: 58,188,384		noncoding transcript	Het
Gm4846	A	T	1: 166,483,934	F452Y	probably damaging	Het
Gm8773	T	A	5: 5,575,387	F28I	probably benign	Het
Gm884	T	C	11: 103,614,207	T2312A	possibly damaging	Het
Gpbp1	T	C	13: 111,440,750	D202G	probably damaging	Het
Gpd2	C	A	2: 57,307,013	Y193*	probably null	Het
Grhl2	G	T	15: 37,287,249	R229L	probably benign	Het
Gtf2a1	A	G	12: 91,575,749	F59L	possibly damaging	Het
Heatr1	G	T	13: 12,410,599	W640L	probably benign	Het
Kalrn	A	T	16: 34,357,415		probably null	Het
Keap1	T	C	9: 21,237,286	T142A	probably damaging	Het
Kpna2	G	A	11: 106,991,235	T255M	probably damaging	Het
Kpna3	A	G	14: 61,370,389	C456R	probably damaging	Het
Lama1	G	A	17: 67,767,566		probably null	Het
Mag	C	A	7: 30,909,156	E178*	probably null	Het
Map3k13	A	G	16: 21,911,019	I467V	probably benign	Het
Mga	A	G	2: 119,903,301	E210G	probably damaging	Het
Msi2	C	T	11: 88,366,784		probably null	Het
Naa16	A	T	14: 79,345,085	D521E	probably damaging	Het
Nav2	C	T	7: 49,304,540		probably benign	Het
Nek10	T	A	14: 14,860,986	L513M	possibly damaging	Het
Nek5	T	C	8: 22,096,799	K332R	probably benign	Het
Nek5	T	A	8: 22,079,088	I573L	probably benign	Het
Ntn1	CCTTCTTCT	CCTTCT	11: 68,213,026		probably benign	Het
Olfr111	A	T	17: 37,530,750	T258S	possibly damaging	Het
Olfr263	G	A	13: 21,133,344	V190I	probably benign	Het
Olfr773	T	A	10: 129,186,597	T275S	probably benign	Het
Olfr875	T	A	9: 37,773,064	M135K	probably damaging	Het
Orai1	T	G	5: 123,029,250	V162G	probably damaging	Het
P2rx6	T	C	16: 17,567,444	S134P	probably damaging	Het
Pappa2	G	A	1: 158,857,136	T811I	probably null	Het
Pcdhga10	T	C	18: 37,747,160		probably benign	Het
Pex16	C	T	2: 92,379,060	R241*	probably null	Het
Plxnb1	T	C	9: 109,114,836	F1969L	probably damaging	Het
Postn	A	G	3: 54,390,315		probably benign	Het
Prdm15	A	T	16: 97,806,077	I752N	probably damaging	Het
Rasgef1c	A	T	11: 49,979,512	K468M	probably damaging	Het
Rbfox1	A	G	16: 7,277,088	S111G	probably benign	Het
Rbm28	T	C	6: 29,138,598	D405G	probably damaging	Het
Rell1	A	G	5: 63,939,667		probably benign	Het
Rfx3	A	G	19: 27,830,672	S224P	probably damaging	Het
Scarb2	A	T	5: 92,454,777	I260K	probably damaging	Het
Slc15a4	A	G	5: 127,603,837	F72L	probably damaging	Het
Spg7	C	A	8: 123,090,171	R534S	probably damaging	Het
Stoml2	T	C	4: 43,029,589	T164A	probably benign	Het
Syt11	C	T	3: 88,762,283	G101S	possibly damaging	Het
Traj12	A	G	14: 54,206,556		probably benign	Het
Traj7	A	T	14: 54,211,524		probably benign	Het
Tysnd1	C	T	10: 61,702,076	T175I	possibly damaging	Het
Usp48	T	G	4: 137,606,693	Y139*	probably null	Het
Vmn2r72	A	G	7: 85,751,109	L244P	probably benign	Het
Zc3h18	T	A	8: 122,410,900		probably benign	Het
Zfp712	A	G	13: 67,040,841	S541P	possibly damaging	Het

Other mutations in Wasf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Wasf1	APN	10	40920297	missense	probably damaging	1.00
IGL01978:Wasf1	APN	10	40936201	missense	unknown
IGL02265:Wasf1	APN	10	40936441	missense	unknown
IGL02565:Wasf1	APN	10	40936132	missense	possibly damaging	0.70
IGL02741:Wasf1	APN	10	40930709	missense	probably damaging	1.00
IGL03037:Wasf1	APN	10	40930658	missense	probably benign	0.42
potatoes	UTSW	10	40926620	critical splice donor site	probably null
K3955:Wasf1	UTSW	10	40936195	missense	unknown
R0652:Wasf1	UTSW	10	40931906	splice site	probably null
R1276:Wasf1	UTSW	10	40936526	missense	unknown
R1774:Wasf1	UTSW	10	40934479	missense	possibly damaging	0.50
R1813:Wasf1	UTSW	10	40926589	missense	probably damaging	1.00
R3607:Wasf1	UTSW	10	40936384	missense	unknown
R4418:Wasf1	UTSW	10	40936582	missense	unknown
R4997:Wasf1	UTSW	10	40934604	missense	probably damaging	0.96
R5178:Wasf1	UTSW	10	40937676	missense	unknown
R5718:Wasf1	UTSW	10	40926574	missense	probably damaging	1.00
R5789:Wasf1	UTSW	10	40926574	missense	probably damaging	1.00
R5791:Wasf1	UTSW	10	40926574	missense	probably damaging	1.00
R5839:Wasf1	UTSW	10	40936319	missense	unknown
R6247:Wasf1	UTSW	10	40937745	missense	unknown
R6688:Wasf1	UTSW	10	40926620	critical splice donor site	probably null
R6889:Wasf1	UTSW	10	40920369	missense	probably damaging	1.00
R6977:Wasf1	UTSW	10	40926585	missense	probably damaging	0.97
R7023:Wasf1	UTSW	10	40936475	missense	unknown
R7136:Wasf1	UTSW	10	40926591	missense	possibly damaging	0.91
R7224:Wasf1	UTSW	10	40926550	missense	probably benign	0.17
R8558:Wasf1	UTSW	10	40930652	missense	possibly damaging	0.88
R9023:Wasf1	UTSW	10	40934575	missense	possibly damaging	0.70
X0025:Wasf1	UTSW	10	40936697	missense	unknown
X0067:Wasf1	UTSW	10	40937657	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCTTCTACAGGAACATGTTAGTGGG -3'
(R):5'- TGCAACTGCGACAGGAGATG -3'

Sequencing Primer
(F):5'- GGTTTATTTTGATGTAGCTACCGC -3'
(R):5'- TGGCACAGTCTCGCATAC -3'

Posted On

2016-04-27