Mutagenetix > Incidental Mutation

Incidental Mutation 'R6977:Wasf1'

542517

Institutional Source

Beutler Lab

Gene Symbol

Wasf1

Ensembl Gene

ENSMUSG00000019831

Gene Name

WASP family, member 1

Synonyms

Scar, WAVE, WAVE-1

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.520) question?

Stock #

R6977 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40759476-40814565 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40802581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 79 (S79G)

Ref Sequence

ENSEMBL: ENSMUSP00000101148 (fasta)

Gene Model

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

AlphaFold

Q8R5H6

Predicted Effect

probably damaging
Transcript: ENSMUST00000019975
AA Change: S79G

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000019975
Gene: ENSMUSG00000019831
AA Change: S79G

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

probably damaging
Transcript: ENSMUST00000105509
AA Change: S79G

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101148
Gene: ENSMUSG00000019831
AA Change: S79G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	G	A	13: 59,839,394 (GRCm39)	S17L	possibly damaging	Het
Acap2	G	T	16: 30,936,079 (GRCm39)	T336K	probably damaging	Het
Angptl7	A	T	4: 148,581,850 (GRCm39)	W179R	probably damaging	Het
Atp9b	A	G	18: 80,796,317 (GRCm39)	F909L	probably damaging	Het
BC051665	A	T	13: 60,932,486 (GRCm39)	Y66*	probably null	Het
C8b	A	G	4: 104,644,193 (GRCm39)	T287A	possibly damaging	Het
Camk2a	G	A	18: 61,093,076 (GRCm39)	G301E	probably damaging	Het
Ccdc186	A	G	19: 56,787,219 (GRCm39)	M583T	probably benign	Het
Cd55b	T	A	1: 130,347,528 (GRCm39)	K94N	probably damaging	Het
Celsr3	T	C	9: 108,704,914 (GRCm39)	S466P	probably benign	Het
Cep152	A	G	2: 125,410,742 (GRCm39)		probably null	Het
Cep70	A	G	9: 99,173,729 (GRCm39)	D420G	probably damaging	Het
Cnih4	T	C	1: 180,989,713 (GRCm39)	S48P	possibly damaging	Het
Cpne8	T	C	15: 90,381,294 (GRCm39)	K507E	probably benign	Het
Cyp2b23	T	C	7: 26,380,745 (GRCm39)	Y160C	possibly damaging	Het
Dnah9	C	A	11: 65,998,735 (GRCm39)	M1104I	probably benign	Het
Fam135a	T	A	1: 24,093,179 (GRCm39)	N149I	probably damaging	Het
Fbxl4	A	T	4: 22,376,930 (GRCm39)	Q122L	probably benign	Het
Gm11232	T	C	4: 71,676,178 (GRCm39)		probably benign	Het
Gm5901	A	G	7: 105,026,367 (GRCm39)	Y45C	probably benign	Het
Gsap	A	T	5: 21,476,219 (GRCm39)	I553F	probably damaging	Het
Ifih1	A	G	2: 62,436,530 (GRCm39)	F631S	probably damaging	Het
Kics2	A	G	10: 121,581,371 (GRCm39)	H124R	probably damaging	Het
Kif21a	T	C	15: 90,865,040 (GRCm39)	D544G	probably damaging	Het
Klc2	G	A	19: 5,159,393 (GRCm39)	R552C	probably damaging	Het
Lamp1	T	C	8: 13,223,661 (GRCm39)	V293A	probably damaging	Het
Muc16	T	A	9: 18,556,633 (GRCm39)	D3220V	unknown	Het
Myb	A	T	10: 21,028,551 (GRCm39)	I104K	probably damaging	Het
Mycbp2	C	A	14: 103,392,342 (GRCm39)	R3227L	probably damaging	Het
Ncapd2	A	T	6: 125,148,472 (GRCm39)	L1053Q	probably damaging	Het
Nelfe	T	A	17: 35,073,688 (GRCm39)	V316E	probably damaging	Het
Noxred1	T	C	12: 87,268,091 (GRCm39)	I347V	probably null	Het
Or8g50	A	G	9: 39,648,330 (GRCm39)	Y73C	probably benign	Het
Plekha7	A	G	7: 115,735,202 (GRCm39)	V1033A	probably benign	Het
Plekhh1	G	C	12: 79,112,491 (GRCm39)	W589C	probably damaging	Het
Ppp6r3	A	T	19: 3,517,272 (GRCm39)	F658L	probably damaging	Het
Prss55	A	G	14: 64,316,785 (GRCm39)	M119T	probably damaging	Het
Rab28	G	A	5: 41,855,735 (GRCm39)	Q87*	probably null	Het
Rsf1	GGCG	GGCGACGGCAGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sdr16c6	A	T	4: 4,076,865 (GRCm39)	F11L	probably benign	Het
Serpinb5	T	G	1: 106,800,077 (GRCm39)	V89G	probably benign	Het
Slc12a9	A	T	5: 137,314,075 (GRCm39)	V628E	probably damaging	Het
Slc25a34	G	A	4: 141,347,809 (GRCm39)	R291C	probably damaging	Het
Slmap	C	T	14: 26,254,574 (GRCm39)	R36H	probably damaging	Het
Sybu	A	G	15: 44,541,091 (GRCm39)	S324P	probably benign	Het
Syk	A	T	13: 52,787,094 (GRCm39)	M363L	probably benign	Het
Tecpr2	T	C	12: 110,906,200 (GRCm39)	V934A	probably benign	Het
Thpo	A	G	16: 20,544,433 (GRCm39)	L200P	probably damaging	Het
Tiam2	T	A	17: 3,568,934 (GRCm39)	S1693R	probably damaging	Het
Usp48	A	G	4: 137,377,671 (GRCm39)	D232G	probably damaging	Het
Zfp90	G	T	8: 107,151,948 (GRCm39)	D554Y	probably damaging	Het
Zfp90	A	T	8: 107,151,949 (GRCm39)	D554V	probably damaging	Het
Zic5	T	C	14: 122,696,960 (GRCm39)	T552A	unknown	Het
Zic5	CGACGAGTAG	C	14: 122,696,967 (GRCm39)		probably benign	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
R5839:Wasf1	UTSW	10	40,812,315 (GRCm39)	missense	unknown
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
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'- AAGGCAGGGTTTACGGTCAC -3'
(R):5'- CAGGCTGAGCACTCTTACAGATAATAC -3'

Sequencing Primer
(F):5'- CAGGGTTTACGGTCACTGCTC -3'
(R):5'- ACATAGATTTATTTCTGCACAGACAC -3'

Posted On

2018-11-28