Mutagenetix > Incidental Mutation

Incidental Mutation 'R8965:Wipf2'

682685

Institutional Source

Beutler Lab

Gene Symbol

Wipf2

Ensembl Gene

ENSMUSG00000038013

Gene Name

WAS/WASL interacting protein family, member 2

Synonyms

1110014J05Rik, 5730509C05Rik

MMRRC Submission

068799-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.347) question?

Stock #

R8965 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98754464-98795866 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 98783497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 308 (S308G)

Ref Sequence

ENSEMBL: ENSMUSP00000046991 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037480] [ENSMUST00000142414]

AlphaFold

Q6PEV3

Predicted Effect

probably benign
Transcript: ENSMUST00000037480
AA Change: S308G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000046991
Gene: ENSMUSG00000038013
AA Change: S308G

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
WH2	36	53	2.81e-4	SMART
low complexity region	69	80	N/A	INTRINSIC
low complexity region	116	134	N/A	INTRINSIC
low complexity region	173	192	N/A	INTRINSIC
low complexity region	225	236	N/A	INTRINSIC
low complexity region	250	265	N/A	INTRINSIC
low complexity region	288	308	N/A	INTRINSIC
low complexity region	310	330	N/A	INTRINSIC
low complexity region	353	377	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142414

SMART Domains

Protein: ENSMUSP00000123244
Gene: ENSMUSG00000038013

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
WH2	36	53	2.81e-4	SMART
low complexity region	69	80	N/A	INTRINSIC
low complexity region	116	134	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WASP interacting protein (WIP)-related protein. It has been shown that this protein has a role in the WASP-mediated organization of the actin cytoskeleton and that this protein is a potential link between the activated platelet-derived growth factor receptor and the actin polymerization machinery. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,760,723 (GRCm39)	I1260K	probably benign	Het
Ace3	G	T	11: 105,896,175 (GRCm39)	C707F	probably benign	Het
Ahi1	A	G	10: 20,839,761 (GRCm39)	H224R	probably benign	Het
Atp1a2	T	C	1: 172,107,612 (GRCm39)	D669G	probably benign	Het
Cdk5rap2	A	C	4: 70,185,042 (GRCm39)	V1136G	probably benign	Het
Cntnap4	T	A	8: 113,479,646 (GRCm39)	V277E	probably damaging	Het
Cyp2d12	T	C	15: 82,443,186 (GRCm39)	L416P	possibly damaging	Het
Dnah17	T	G	11: 117,915,492 (GRCm39)	T4376P	probably damaging	Het
E4f1	C	T	17: 24,664,504 (GRCm39)	V429M	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Erich6	A	T	3: 58,531,738 (GRCm39)	D419E	probably benign	Het
Grid2	A	G	6: 64,296,990 (GRCm39)	E451G	probably damaging	Het
Herpud1	T	C	8: 95,118,469 (GRCm39)	Y181H	probably damaging	Het
Igkv2-109	A	T	6: 68,280,112 (GRCm39)	Y111F	probably damaging	Het
Lztr1	T	C	16: 17,327,296 (GRCm39)		probably null	Het
Myh13	A	T	11: 67,255,432 (GRCm39)	M1601L	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Or10ag53	A	T	2: 87,082,901 (GRCm39)	I207F	possibly damaging	Het
Or2w2	T	C	13: 21,758,387 (GRCm39)	T80A	probably benign	Het
Or5p52	T	C	7: 107,502,314 (GRCm39)	L130P	probably damaging	Het
P2rx1	T	C	11: 72,900,051 (GRCm39)	V156A	probably benign	Het
P3h2	T	C	16: 25,791,134 (GRCm39)	N444S	probably benign	Het
Patz1	T	C	11: 3,257,815 (GRCm39)	Y559H	probably damaging	Het
Pcna	T	C	2: 132,094,769 (GRCm39)	D63G	possibly damaging	Het
Pcnx2	G	A	8: 126,485,853 (GRCm39)	A1915V	probably benign	Het
Peli1	T	C	11: 21,098,488 (GRCm39)	Y408H	probably damaging	Het
Psma5	T	A	3: 108,172,510 (GRCm39)		probably null	Het
Ptpn11	G	A	5: 121,301,229 (GRCm39)	T205M	possibly damaging	Het
Rapgef2	A	G	3: 78,999,851 (GRCm39)	L453P	probably damaging	Het
Slc12a4	A	G	8: 106,671,982 (GRCm39)	V910A	possibly damaging	Het
Spaca6	A	G	17: 18,058,718 (GRCm39)	T306A	probably damaging	Het
Spata6	T	A	4: 111,680,009 (GRCm39)	Y422*	probably null	Het
Svop	A	G	5: 114,173,271 (GRCm39)	Y367H	probably benign	Het
Trgv3	T	A	13: 19,427,180 (GRCm39)	L21Q	probably damaging	Het
Trim38	T	C	13: 23,975,006 (GRCm39)	L315S	possibly damaging	Het
Ttc12	A	G	9: 49,349,718 (GRCm39)	V693A	probably benign	Het
Usp20	T	A	2: 30,901,797 (GRCm39)	Y521N	possibly damaging	Het
Vcam1	T	A	3: 115,922,422 (GRCm39)	K34*	probably null	Het
Vwa1	A	T	4: 155,857,440 (GRCm39)	Y119*	probably null	Het
Vwa5b2	A	G	16: 20,415,076 (GRCm39)	H366R	possibly damaging	Het
Wac	C	A	18: 7,905,936 (GRCm39)	Q168K	probably benign	Het
Zbtb25	A	C	12: 76,396,577 (GRCm39)	I215S	probably benign	Het
Zfp677	T	C	17: 21,617,155 (GRCm39)	S71P	probably damaging	Het

Other mutations in Wipf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01538:Wipf2	APN	11	98,781,629 (GRCm39)	missense	possibly damaging	0.93
IGL01642:Wipf2	APN	11	98,781,650 (GRCm39)	missense	probably benign	0.01
IGL03008:Wipf2	APN	11	98,783,554 (GRCm39)	unclassified	probably benign
R0557:Wipf2	UTSW	11	98,782,915 (GRCm39)	missense	possibly damaging	0.65
R1054:Wipf2	UTSW	11	98,787,141 (GRCm39)	missense	possibly damaging	0.91
R1936:Wipf2	UTSW	11	98,783,236 (GRCm39)	nonsense	probably null
R1937:Wipf2	UTSW	11	98,783,236 (GRCm39)	nonsense	probably null
R1939:Wipf2	UTSW	11	98,783,236 (GRCm39)	nonsense	probably null
R1940:Wipf2	UTSW	11	98,783,236 (GRCm39)	nonsense	probably null
R2143:Wipf2	UTSW	11	98,787,040 (GRCm39)	missense	possibly damaging	0.94
R2144:Wipf2	UTSW	11	98,787,040 (GRCm39)	missense	possibly damaging	0.94
R2398:Wipf2	UTSW	11	98,789,543 (GRCm39)	splice site	probably null
R2879:Wipf2	UTSW	11	98,783,480 (GRCm39)	missense	probably benign	0.00
R4775:Wipf2	UTSW	11	98,781,558 (GRCm39)	missense	probably benign	0.04
R6037:Wipf2	UTSW	11	98,787,005 (GRCm39)	missense	probably benign	0.11
R6037:Wipf2	UTSW	11	98,787,005 (GRCm39)	missense	probably benign	0.11
R8987:Wipf2	UTSW	11	98,783,092 (GRCm39)	missense	probably damaging	1.00
R9381:Wipf2	UTSW	11	98,787,068 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACATCAGAACAGGACCCAGTGG -3'
(R):5'- TACTAGGCTGTCCACAATGAGTTC -3'

Sequencing Primer
(F):5'- ACCCAGTGGCCAGTCTCTG -3'
(R):5'- TCACTGCAGGGAGATTCT -3'

Posted On

2021-10-11