Mutagenetix > Incidental Mutation

Incidental Mutation 'R6037:Wipf2'

479273

Institutional Source

Beutler Lab

Gene Symbol

Wipf2

Ensembl Gene

ENSMUSG00000038013

Gene Name

WAS/WASL interacting protein family, member 2

Synonyms

1110014J05Rik, 5730509C05Rik

MMRRC Submission

043258-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.309) question?

Stock #

R6037 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98754464-98795866 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 98787005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 345 (P345S)

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: P345S

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000046991
Gene: ENSMUSG00000038013
AA Change: P345S

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

noncoding transcript
Transcript: ENSMUST00000132006

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148439

Coding Region Coverage

1x: 99.8%
3x: 99.0%
10x: 92.4%
20x: 72.6%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Abi2	C	A	1: 60,503,738 (GRCm39)	P212T	probably damaging	Het
Ano4	A	G	10: 89,153,108 (GRCm39)	F68S	possibly damaging	Het
Art5	C	A	7: 101,747,591 (GRCm39)	A63S	probably benign	Het
Asgr1	T	A	11: 69,947,247 (GRCm39)	S96R	probably benign	Het
Bdp1	A	T	13: 100,163,957 (GRCm39)	V2248D	possibly damaging	Het
Cacna1s	C	T	1: 135,998,705 (GRCm39)	A200V	possibly damaging	Het
Cacna2d2	A	G	9: 107,390,738 (GRCm39)	K357E	probably damaging	Het
Cdhr18	T	C	14: 13,864,282 (GRCm38)	N348S	probably damaging	Het
Cfap52	C	T	11: 67,837,126 (GRCm39)	G212R	probably benign	Het
Dcun1d3	A	G	7: 119,456,965 (GRCm39)	F249S	probably damaging	Het
Ece2	A	G	16: 20,449,112 (GRCm39)	Y17C	probably damaging	Het
Efemp1	C	T	11: 28,871,760 (GRCm39)	T425I	probably damaging	Het
Eprs1	A	G	1: 185,128,306 (GRCm39)	E562G	probably damaging	Het
Fbn2	T	C	18: 58,177,295 (GRCm39)	T2001A	probably benign	Het
Flt4	G	A	11: 49,527,867 (GRCm39)	R940H	probably damaging	Het
Fry	T	A	5: 150,351,644 (GRCm39)	M1716K	probably benign	Het
Gm10684	T	A	9: 45,019,039 (GRCm39)		probably benign	Het
Hivep1	G	A	13: 42,311,416 (GRCm39)	V1219I	probably damaging	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Il23r	C	T	6: 67,455,938 (GRCm39)	V177M	probably damaging	Het
Klf12	T	C	14: 100,137,650 (GRCm39)	S299G	probably benign	Het
Lama5	G	A	2: 179,848,806 (GRCm39)	R265C	probably damaging	Het
Lifr	A	G	15: 7,216,424 (GRCm39)	T800A	probably damaging	Het
Megf8	T	C	7: 25,063,831 (GRCm39)	L2729P	probably damaging	Het
Mki67	A	C	7: 135,298,532 (GRCm39)	S2167R	possibly damaging	Het
Mus81	T	C	19: 5,534,032 (GRCm39)	K400E	probably damaging	Het
Nomo1	T	A	7: 45,712,423 (GRCm39)	I656N	possibly damaging	Het
Oas3	T	C	5: 120,907,384 (GRCm39)	T418A	probably benign	Het
Olr1	A	G	6: 129,470,504 (GRCm39)	L221P	probably damaging	Het
Or14c44	C	T	7: 86,062,478 (GRCm39)	L303F	probably benign	Het
Or5m9	T	C	2: 85,876,928 (GRCm39)	M34T	probably benign	Het
Or8b3	T	A	9: 38,314,601 (GRCm39)	C144S	probably benign	Het
Or8g22	A	G	9: 38,958,403 (GRCm39)	V104A	probably damaging	Het
Or8k28	T	A	2: 86,286,133 (GRCm39)	I161L	probably benign	Het
Pih1d1	C	T	7: 44,805,738 (GRCm39)	A69V	probably damaging	Het
Pkdrej	A	C	15: 85,703,967 (GRCm39)	S656R	probably damaging	Het
Polr3f	A	G	2: 144,377,943 (GRCm39)	D171G	probably damaging	Het
Rasal1	T	C	5: 120,787,566 (GRCm39)	V11A	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Sptbn4	T	A	7: 27,063,595 (GRCm39)	Y2277F	probably damaging	Het
St6galnac6	A	G	2: 32,502,240 (GRCm39)	Q7R	probably damaging	Het
Thrsp	T	G	7: 97,066,499 (GRCm39)	D71A	possibly damaging	Het
Vmn2r1	C	A	3: 63,989,150 (GRCm39)	Q30K	probably benign	Het
Vmn2r125	C	A	4: 156,703,396 (GRCm39)	A258D	probably benign	Het
Zeb2	G	T	2: 44,878,652 (GRCm39)	S1170*	probably null	Het
Zfp947	A	G	17: 22,366,415 (GRCm39)	Y38H	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
R8965:Wipf2	UTSW	11	98,783,497 (GRCm39)	missense	probably benign	0.01
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

Posted On

2017-06-26