Mutagenetix > Incidental Mutation

Incidental Mutation 'R5839:Wasf1'

449811

Institutional Source

Beutler Lab

Gene Symbol

Wasf1

Ensembl Gene

ENSMUSG00000019831

Gene Name

WASP family, member 1

Synonyms

Scar, WAVE, WAVE-1

MMRRC Submission

044059-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.495) question?

Stock #

R5839 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40759476-40814565 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40812315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 368 (V368E)

Ref Sequence

ENSEMBL: ENSMUSP00000101148 (fasta)

Gene Model

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

AlphaFold

Q8R5H6

Predicted Effect

unknown
Transcript: ENSMUST00000019975
AA Change: V368E

SMART Domains

Protein: ENSMUSP00000019975
Gene: ENSMUSG00000019831
AA Change: V368E

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: V368E

SMART Domains

Protein: ENSMUSP00000101148
Gene: ENSMUSG00000019831
AA Change: V368E

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

0.0704

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

94% (62/66)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	A	5: 8,186,861 (GRCm39)	Y420F	probably damaging	Het
Adcy8	A	G	15: 64,588,031 (GRCm39)	Y919H	probably damaging	Het
Afg2a	A	G	3: 37,518,803 (GRCm39)	D779G	probably damaging	Het
Ampd1	A	T	3: 102,992,744 (GRCm39)	N162I	possibly damaging	Het
Arhgef15	G	A	11: 68,844,982 (GRCm39)	A205V	probably benign	Het
Ash1l	A	G	3: 88,890,658 (GRCm39)	K846E	probably damaging	Het
Azi2	C	T	9: 117,888,187 (GRCm39)	T250I	probably damaging	Het
Btbd16	G	A	7: 130,417,538 (GRCm39)		probably null	Het
Ceacam16	T	A	7: 19,590,008 (GRCm39)	K52*	probably null	Het
Cfap74	T	C	4: 155,507,207 (GRCm39)		probably null	Het
Cgn	A	C	3: 94,681,703 (GRCm39)	L464R	probably damaging	Het
Chpt1	T	A	10: 88,339,625 (GRCm39)	H32L	probably damaging	Het
Clk1	G	A	1: 58,461,074 (GRCm39)	T7I	probably benign	Het
Col6a5	C	T	9: 105,822,592 (GRCm39)		probably null	Het
Cpne4	C	A	9: 104,803,027 (GRCm39)	R224S	probably damaging	Het
Cysltr2	T	C	14: 73,267,623 (GRCm39)	Y29C	probably damaging	Het
Ddx5	A	G	11: 106,673,032 (GRCm39)	S498P	probably damaging	Het
Dgkg	A	G	16: 22,385,244 (GRCm39)	Y382H	possibly damaging	Het
Efemp1	A	G	11: 28,871,418 (GRCm39)	E339G	possibly damaging	Het
Focad	T	A	4: 88,115,083 (GRCm39)		probably benign	Het
Gabbr1	G	A	17: 37,378,760 (GRCm39)	G650D	probably damaging	Het
Galnt9	A	G	5: 110,725,386 (GRCm39)	S108G	probably benign	Het
Igkv8-28	T	A	6: 70,121,145 (GRCm39)	M1L	probably benign	Het
Iqca1l	T	C	5: 24,757,024 (GRCm39)	K218E	probably damaging	Het
Kcnq2	T	C	2: 180,751,544 (GRCm39)	Y284C	probably damaging	Het
Macf1	A	G	4: 123,275,117 (GRCm39)	F6299S	probably damaging	Het
Magi3	G	A	3: 104,127,047 (GRCm39)	T79M	probably damaging	Het
Mdh2	T	A	5: 135,812,146 (GRCm39)		probably null	Het
Mgam	A	C	6: 40,716,998 (GRCm39)	N108T	possibly damaging	Het
N4bp3	A	T	11: 51,536,909 (GRCm39)	F55I	probably benign	Het
Nasp	C	T	4: 116,459,288 (GRCm39)		probably null	Het
Ncapg	T	A	5: 45,829,620 (GRCm39)	H107Q	probably damaging	Het
Ofcc1	T	C	13: 40,434,021 (GRCm39)	K28R	probably damaging	Het
Opn1sw	C	T	6: 29,379,829 (GRCm39)	C135Y	probably damaging	Het
Pigo	T	C	4: 43,022,104 (GRCm39)	M346V	probably damaging	Het
Pkn2	A	T	3: 142,527,290 (GRCm39)	D386E	probably benign	Het
Psd2	G	T	18: 36,140,577 (GRCm39)	V617L	probably damaging	Het
Rab39	C	T	9: 53,617,387 (GRCm39)	R10H	probably damaging	Het
Slc6a6	T	A	6: 91,700,298 (GRCm39)	C9S	probably damaging	Het
Slc8a2	A	T	7: 15,868,412 (GRCm39)	I215F	probably damaging	Het
Slitrk5	T	C	14: 111,917,030 (GRCm39)	V218A	probably benign	Het
Smchd1	A	T	17: 71,701,857 (GRCm39)	V1045E	probably damaging	Het
Smoc1	T	C	12: 81,214,359 (GRCm39)	I247T	probably damaging	Het
Snapc4	G	C	2: 26,255,546 (GRCm39)	Q993E	probably benign	Het
Spidr	A	T	16: 15,855,366 (GRCm39)	I383N	probably damaging	Het
Stab2	A	G	10: 86,708,555 (GRCm39)	V219A	probably damaging	Het
Tas2r103	T	C	6: 133,013,779 (GRCm39)	T96A	probably benign	Het
Tcaf3	T	C	6: 42,570,783 (GRCm39)	E323G	possibly damaging	Het
Tecta	T	C	9: 42,284,272 (GRCm39)	T938A	possibly damaging	Het
Tecta	C	T	9: 42,242,319 (GRCm39)	D2085N	probably benign	Het
Tekt2	T	A	4: 126,216,629 (GRCm39)	E328V	probably damaging	Het
Tgfb1i1	A	G	7: 127,852,537 (GRCm39)	*462W	probably null	Het
Tnip2	T	C	5: 34,653,976 (GRCm39)		probably benign	Het
Tpd52l2	G	A	2: 181,141,691 (GRCm39)	V25I	probably benign	Het
Traj15	T	A	14: 54,441,926 (GRCm39)		probably benign	Het
Trpm8	A	T	1: 88,253,228 (GRCm39)	I106F	possibly damaging	Het
Ttc22	T	C	4: 106,495,717 (GRCm39)	L357P	probably damaging	Het
Ttn	T	C	2: 76,739,772 (GRCm39)	H3589R	probably benign	Het
Vmn1r28	T	A	6: 58,242,280 (GRCm39)	I41N	possibly damaging	Het
Zeb1	A	G	18: 5,767,507 (GRCm39)	M673V	probably benign	Het
Zfp799	T	C	17: 33,041,086 (GRCm39)	D31G	probably null	Het

Other mutations in Wasf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Wasf1	APN	10	40,796,293 (GRCm39)	missense	probably damaging	1.00
IGL01978:Wasf1	APN	10	40,812,197 (GRCm39)	missense	unknown
IGL02265:Wasf1	APN	10	40,812,437 (GRCm39)	missense	unknown
IGL02565:Wasf1	APN	10	40,812,128 (GRCm39)	missense	possibly damaging	0.70
IGL02741:Wasf1	APN	10	40,806,705 (GRCm39)	missense	probably damaging	1.00
IGL03037:Wasf1	APN	10	40,806,654 (GRCm39)	missense	probably benign	0.42
potatoes	UTSW	10	40,802,616 (GRCm39)	critical splice donor site	probably null
K3955:Wasf1	UTSW	10	40,812,191 (GRCm39)	missense	unknown
R0652:Wasf1	UTSW	10	40,807,902 (GRCm39)	splice site	probably null
R1276:Wasf1	UTSW	10	40,812,522 (GRCm39)	missense	unknown
R1774:Wasf1	UTSW	10	40,810,475 (GRCm39)	missense	possibly damaging	0.50
R1813:Wasf1	UTSW	10	40,802,585 (GRCm39)	missense	probably damaging	1.00
R3607:Wasf1	UTSW	10	40,812,380 (GRCm39)	missense	unknown
R4418:Wasf1	UTSW	10	40,812,578 (GRCm39)	missense	unknown
R4952:Wasf1	UTSW	10	40,812,186 (GRCm39)	missense	unknown
R4997:Wasf1	UTSW	10	40,810,600 (GRCm39)	missense	probably damaging	0.96
R5178:Wasf1	UTSW	10	40,813,672 (GRCm39)	missense	unknown
R5718:Wasf1	UTSW	10	40,802,570 (GRCm39)	missense	probably damaging	1.00
R5789:Wasf1	UTSW	10	40,802,570 (GRCm39)	missense	probably damaging	1.00
R5791:Wasf1	UTSW	10	40,802,570 (GRCm39)	missense	probably damaging	1.00
R6247:Wasf1	UTSW	10	40,813,741 (GRCm39)	missense	unknown
R6688:Wasf1	UTSW	10	40,802,616 (GRCm39)	critical splice donor site	probably null
R6889:Wasf1	UTSW	10	40,796,365 (GRCm39)	missense	probably damaging	1.00
R6977:Wasf1	UTSW	10	40,802,581 (GRCm39)	missense	probably damaging	0.97
R7023:Wasf1	UTSW	10	40,812,471 (GRCm39)	missense	unknown
R7136:Wasf1	UTSW	10	40,802,587 (GRCm39)	missense	possibly damaging	0.91
R7224:Wasf1	UTSW	10	40,802,546 (GRCm39)	missense	probably benign	0.17
R8558:Wasf1	UTSW	10	40,806,648 (GRCm39)	missense	possibly damaging	0.88
R9023:Wasf1	UTSW	10	40,810,571 (GRCm39)	missense	possibly damaging	0.70
R9731:Wasf1	UTSW	10	40,806,731 (GRCm39)	missense	probably damaging	1.00
R9800:Wasf1	UTSW	10	40,812,693 (GRCm39)	missense	unknown
X0025:Wasf1	UTSW	10	40,812,693 (GRCm39)	missense	unknown
X0067:Wasf1	UTSW	10	40,813,653 (GRCm39)	missense	unknown

Predicted Primers

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

Sequencing Primer
(F):5'- TTTGATAGAGAATCGCCCCCAGTC -3'
(R):5'- CTGCGACAGGAGATGATGGC -3'

Posted On

2016-12-20