Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03037:Wasf1'

408736

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wasf1

Ensembl Gene

ENSMUSG00000019831

Gene Name

WASP family, member 1

Synonyms

Scar, WAVE, WAVE-1

Accession Numbers

Essential gene?

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

Stock #

IGL03037

Quality Score

Status

Chromosome

Chromosomal Location

40759476-40814565 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40806654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 99 (K99R)

Ref Sequence

ENSEMBL: ENSMUSP00000101148 (fasta)

Gene Model

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

AlphaFold

Q8R5H6

Predicted Effect

probably benign
Transcript: ENSMUST00000019975
AA Change: K99R

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000019975
Gene: ENSMUSG00000019831
AA Change: K99R

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 benign
Transcript: ENSMUST00000105509
AA Change: K99R

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101148
Gene: ENSMUSG00000019831
AA Change: K99R

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

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	C	9: 107,807,294 (GRCm39)	L539P	probably damaging	Het
Adam23	A	T	1: 63,610,176 (GRCm39)	Q726L	possibly damaging	Het
Ago1	T	C	4: 126,355,587 (GRCm39)	E74G	probably benign	Het
Atp6v1d	C	A	12: 78,904,122 (GRCm39)		probably benign	Het
Bltp1	C	A	3: 37,023,356 (GRCm39)	S2227R	probably benign	Het
Bltp1	T	C	3: 37,023,357 (GRCm39)	S2229P	probably damaging	Het
Cadm4	T	A	7: 24,200,220 (GRCm39)	L243Q	probably damaging	Het
Camsap2	C	A	1: 136,202,595 (GRCm39)	L1274F	probably damaging	Het
Car10	A	G	11: 92,991,044 (GRCm39)		probably benign	Het
Catsperd	A	T	17: 56,948,583 (GRCm39)	D186V	possibly damaging	Het
Cdc42bpg	A	G	19: 6,361,230 (GRCm39)	Y285C	probably damaging	Het
Cenpi	T	A	X: 133,250,017 (GRCm39)	C599S	possibly damaging	Het
Cln8	A	T	8: 14,944,679 (GRCm39)		probably benign	Het
Cnksr1	T	C	4: 133,962,417 (GRCm39)		probably null	Het
Cripto	C	A	9: 110,772,288 (GRCm39)	W36L	probably benign	Het
Ddx5	T	C	11: 106,672,930 (GRCm39)	N532D	possibly damaging	Het
Dock11	G	T	X: 35,310,699 (GRCm39)		probably benign	Het
Dock8	A	G	19: 25,063,545 (GRCm39)	E249G	probably benign	Het
Espnl	T	C	1: 91,269,643 (GRCm39)	V393A	probably benign	Het
Fhip1b	A	T	7: 105,028,293 (GRCm39)	H885Q	probably benign	Het
Frrs1	T	C	3: 116,696,116 (GRCm39)		probably benign	Het
Fstl4	C	A	11: 53,059,050 (GRCm39)	A503D	possibly damaging	Het
Gda	T	A	19: 21,411,673 (GRCm39)	I42L	possibly damaging	Het
Gprc5d	C	A	6: 135,093,319 (GRCm39)	C196F	probably damaging	Het
Hnrnpa0	A	G	13: 58,275,767 (GRCm39)	F121L	probably damaging	Het
Hsd3b7	C	T	7: 127,400,322 (GRCm39)	H24Y	probably damaging	Het
Ift140	T	C	17: 25,311,368 (GRCm39)	S1188P	probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mcemp1	C	A	8: 3,717,055 (GRCm39)	Y65*	probably null	Het
Mmp16	C	T	4: 17,996,222 (GRCm39)	P104S	probably damaging	Het
Mpst	C	A	15: 78,294,798 (GRCm39)	R177S	probably benign	Het
Nek1	A	T	8: 61,487,086 (GRCm39)	T279S	probably benign	Het
Or1q1	C	T	2: 36,887,560 (GRCm39)	T246I	probably benign	Het
Or1x2	A	T	11: 50,918,117 (GRCm39)	Y96F	probably damaging	Het
Or4c11b	A	G	2: 88,625,299 (GRCm39)	Y191C	probably damaging	Het
Or7g18	T	A	9: 18,786,668 (GRCm39)	I12N	probably damaging	Het
Pard3	A	T	8: 128,032,975 (GRCm39)	T190S	probably benign	Het
Pik3r4	A	G	9: 105,528,012 (GRCm39)	D455G	probably damaging	Het
Piwil4	T	C	9: 14,616,308 (GRCm39)	I756V	possibly damaging	Het
Pkhd1	A	G	1: 20,592,923 (GRCm39)	L1730P	probably benign	Het
Pnpla3	T	C	15: 84,056,960 (GRCm39)	I155T	probably damaging	Het
Prmt8	T	C	6: 127,680,940 (GRCm39)	Y243C	possibly damaging	Het
Rbfox1	T	A	16: 7,110,147 (GRCm39)		probably benign	Het
Rps6ka2	G	A	17: 7,521,849 (GRCm39)		probably null	Het
Scaf8	A	G	17: 3,240,496 (GRCm39)	K623E	probably damaging	Het
Slc26a4	A	T	12: 31,581,686 (GRCm39)		probably benign	Het
Slfn8	T	A	11: 82,894,078 (GRCm39)	I854F	probably damaging	Het
Smarca4	T	C	9: 21,544,231 (GRCm39)		probably benign	Het
Sos1	T	C	17: 80,727,758 (GRCm39)	D775G	probably damaging	Het
Spag17	G	A	3: 99,979,486 (GRCm39)		probably null	Het
Spata31d1d	T	A	13: 59,873,947 (GRCm39)	E1196V	possibly damaging	Het
Sqle	T	A	15: 59,193,246 (GRCm39)	Y208N	probably damaging	Het
Tcl1b5	C	T	12: 105,145,273 (GRCm39)	T79M	probably benign	Het
Tenm3	A	G	8: 48,751,913 (GRCm39)	F959L	possibly damaging	Het
Tnfrsf19	T	A	14: 61,261,721 (GRCm39)	K26I	possibly damaging	Het
Trappc10	A	T	10: 78,034,869 (GRCm39)		probably benign	Het
Trim80	T	C	11: 115,332,419 (GRCm39)	W204R	possibly damaging	Het
Trpm3	A	G	19: 22,866,776 (GRCm39)	T536A	possibly damaging	Het
Ttbk1	G	A	17: 46,757,256 (GRCm39)	T1126I	probably benign	Het
Uaca	A	G	9: 60,748,147 (GRCm39)	D37G	probably damaging	Het
Ube3a	T	C	7: 58,896,971 (GRCm39)		probably benign	Het
Ubqln2	C	T	X: 152,282,692 (GRCm39)	Q415*	probably null	Het
Ugp2	T	A	11: 21,282,540 (GRCm39)	K151*	probably null	Het
Wnt4	C	T	4: 137,016,472 (GRCm39)	T42M	possibly damaging	Het
Zfp54	T	A	17: 21,650,477 (GRCm39)	D17E	probably 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
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
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

Posted On

2016-08-02