Mutagenetix > Incidental Mutation

Incidental Mutation 'R6889:Wasf1'

537119

Institutional Source

Beutler Lab

Gene Symbol

Wasf1

Ensembl Gene

ENSMUSG00000019831

Gene Name

WASP family, member 1

Synonyms

Scar, WAVE, WAVE-1

MMRRC Submission

044983-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.520) question?

Stock #

R6889 (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 T at 40796365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 32 (I32F)

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: I32F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000019975
Gene: ENSMUSG00000019831
AA Change: I32F

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: I32F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000101148
Gene: ENSMUSG00000019831
AA Change: I32F

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: 99.4%
20x: 98.1%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	T	4: 73,861,290 (GRCm39)	D103E	probably benign	Het
Abcc3	A	T	11: 94,266,381 (GRCm39)	S70T	possibly damaging	Het
Atp6v0a1	A	G	11: 100,920,009 (GRCm39)	Y214C	possibly damaging	Het
Azi2	A	G	9: 117,878,963 (GRCm39)		probably null	Het
Cacnb2	T	A	2: 14,990,826 (GRCm39)	V636E	possibly damaging	Het
Cd8a	A	C	6: 71,351,546 (GRCm39)	T169P	probably damaging	Het
Cfap44	G	A	16: 44,224,495 (GRCm39)	V68I	probably benign	Het
Cspg4b	C	A	13: 113,454,912 (GRCm39)	S319R	probably damaging	Het
Dnaaf10	G	A	11: 17,172,309 (GRCm39)	V133M	probably damaging	Het
Eea1	G	T	10: 95,873,340 (GRCm39)	C1134F	probably benign	Het
Ehmt2	T	G	17: 35,131,748 (GRCm39)	F1192V	probably damaging	Het
Emc1	T	C	4: 139,092,661 (GRCm39)	F531L	probably damaging	Het
Eme1	G	A	11: 94,541,303 (GRCm39)	T173I	probably benign	Het
Gli2	A	T	1: 118,772,146 (GRCm39)	C520S	probably damaging	Het
Gm43302	T	C	5: 105,428,004 (GRCm39)	K186E	probably benign	Het
Gpr108	A	T	17: 57,543,990 (GRCm39)	N405K	probably damaging	Het
Hmgcl	C	A	4: 135,682,953 (GRCm39)	T135N	probably benign	Het
Hydin	G	A	8: 111,259,488 (GRCm39)	D2487N	possibly damaging	Het
Igfl3	G	T	7: 17,913,725 (GRCm39)	R25L	probably benign	Het
Igsf10	A	C	3: 59,239,354 (GRCm39)	S276A	probably benign	Het
Kctd1	A	G	18: 15,107,045 (GRCm39)	S211P	probably damaging	Het
Kctd7	A	T	5: 130,181,342 (GRCm39)	Q255L	probably benign	Het
Lrig1	A	G	6: 94,602,044 (GRCm39)	Y270H	probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Myh15	A	G	16: 48,973,474 (GRCm39)	N1248S	possibly damaging	Het
Nod1	A	G	6: 54,921,094 (GRCm39)	F408S	probably benign	Het
Nrp1	T	C	8: 129,219,538 (GRCm39)	F652S	probably damaging	Het
Opa1	G	T	16: 29,439,686 (GRCm39)	R792L	probably benign	Het
Or10ak14	G	A	4: 118,611,504 (GRCm39)	T79I	probably damaging	Het
Or51t4	A	T	7: 102,597,975 (GRCm39)	H91L	possibly damaging	Het
Or5p63	A	T	7: 107,811,125 (GRCm39)	F204I	probably benign	Het
Or6c74	T	C	10: 129,870,401 (GRCm39)	M302T	probably benign	Het
Pcdha6	G	T	18: 37,101,396 (GRCm39)	L196F	probably damaging	Het
Pdia2	A	T	17: 26,415,944 (GRCm39)	Y347*	probably null	Het
Pdpr	G	T	8: 111,851,245 (GRCm39)		probably null	Het
Pigt	T	A	2: 164,349,251 (GRCm39)	L518Q	probably damaging	Het
Ppfibp2	A	C	7: 107,337,188 (GRCm39)	D591A	possibly damaging	Het
Prrg2	G	A	7: 44,709,413 (GRCm39)	T97M	possibly damaging	Het
Qars1	A	G	9: 108,390,382 (GRCm39)	T428A	probably damaging	Het
Rai1	T	C	11: 60,076,541 (GRCm39)	F202L	probably damaging	Het
Rars1	A	T	11: 35,699,313 (GRCm39)	M660K	probably damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,132 (GRCm39)		probably benign	Het
Slc16a6	A	C	11: 109,345,866 (GRCm39)	F382V	probably damaging	Het
Slc30a7	T	C	3: 115,747,802 (GRCm39)	T330A	probably damaging	Het
Smc1b	A	T	15: 84,951,960 (GRCm39)	L1157Q	probably damaging	Het
Snx4	G	T	16: 33,071,840 (GRCm39)	A4S	possibly damaging	Het
Sv2b	A	C	7: 74,775,515 (GRCm39)		probably null	Het
Syt9	A	T	7: 107,024,493 (GRCm39)	I129L	probably damaging	Het
Ttbk2	T	C	2: 120,603,834 (GRCm39)	E198G	probably damaging	Het
Ubr3	A	T	2: 69,774,644 (GRCm39)	D488V	possibly damaging	Het
Ush2a	T	A	1: 188,530,068 (GRCm39)	C3286S	probably damaging	Het
Vill	A	G	9: 118,894,950 (GRCm39)	D56G	possibly damaging	Het
Vmn1r41	A	T	6: 89,724,352 (GRCm39)	I298F	probably damaging	Het
Vmn2r2	A	T	3: 64,024,688 (GRCm39)	V631D	probably damaging	Het
Vmn2r32	A	G	7: 7,475,573 (GRCm39)	S437P	possibly damaging	Het
Vmn2r53	A	G	7: 12,335,069 (GRCm39)	V197A	probably benign	Het
Wasf2	G	T	4: 132,922,041 (GRCm39)	A387S	unknown	Het
Zbtb14	G	A	17: 69,694,674 (GRCm39)	C124Y	probably damaging	Het
Zfp462	G	T	4: 55,007,671 (GRCm39)	A37S	probably damaging	Het
Zfp532	A	G	18: 65,820,061 (GRCm39)	E882G	possibly damaging	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
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'- TGCCATTCTCTGACTGATGG -3'
(R):5'- CCACTGTGTGATACTGTTTAGAGAGG -3'

Sequencing Primer
(F):5'- CTGATGGCAGTTTCTCTTTCTG -3'
(R):5'- GTAACTCACTGATGTTACTTAGTGAC -3'

Posted On

2018-10-18