Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02992:Wipf1'

406966

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wipf1

Ensembl Gene

ENSMUSG00000075284

Gene Name

WAS/WASL interacting protein family, member 1

Synonyms

Waspip, WIP, D2Ertd120e

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

IGL02992

Quality Score

Status

Chromosome

Chromosomal Location

73259954-73359831 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 73264427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 458 (Y458C)

Ref Sequence

ENSEMBL: ENSMUSP00000099741 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094681] [ENSMUST00000102679] [ENSMUST00000102680] [ENSMUST00000141264]

AlphaFold

Q8K1I7

Predicted Effect

probably damaging
Transcript: ENSMUST00000094681
AA Change: Y458C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000092268
Gene: ENSMUSG00000075284
AA Change: Y458C

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
WH2	32	49	9.78e-4	SMART
low complexity region	64	108	N/A	INTRINSIC
low complexity region	141	157	N/A	INTRINSIC
low complexity region	162	175	N/A	INTRINSIC
low complexity region	185	196	N/A	INTRINSIC
low complexity region	232	249	N/A	INTRINSIC
low complexity region	274	317	N/A	INTRINSIC
low complexity region	329	374	N/A	INTRINSIC
low complexity region	398	424	N/A	INTRINSIC
PDB:2IFS\|A	441	470	1e-11	PDB
low complexity region	471	484	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000102679
AA Change: Y458C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099740
Gene: ENSMUSG00000075284
AA Change: Y458C

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
WH2	32	49	9.78e-4	SMART
low complexity region	64	108	N/A	INTRINSIC
low complexity region	141	157	N/A	INTRINSIC
low complexity region	162	175	N/A	INTRINSIC
low complexity region	185	196	N/A	INTRINSIC
low complexity region	232	249	N/A	INTRINSIC
low complexity region	274	317	N/A	INTRINSIC
low complexity region	329	374	N/A	INTRINSIC
low complexity region	398	424	N/A	INTRINSIC
PDB:2IFS\|A	441	470	1e-11	PDB
low complexity region	471	484	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000102680
AA Change: Y458C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099741
Gene: ENSMUSG00000075284
AA Change: Y458C

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
WH2	32	49	9.78e-4	SMART
low complexity region	64	108	N/A	INTRINSIC
low complexity region	141	157	N/A	INTRINSIC
low complexity region	162	175	N/A	INTRINSIC
low complexity region	185	196	N/A	INTRINSIC
low complexity region	232	249	N/A	INTRINSIC
low complexity region	274	317	N/A	INTRINSIC
low complexity region	329	374	N/A	INTRINSIC
low complexity region	398	424	N/A	INTRINSIC
PDB:2IFS\|A	441	470	1e-11	PDB
low complexity region	471	484	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123663

Predicted Effect

probably benign
Transcript: ENSMUST00000141264

SMART Domains

Protein: ENSMUSP00000119190
Gene: ENSMUSG00000075284

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
WH2	32	49	9.78e-4	SMART
low complexity region	64	108	N/A	INTRINSIC
low complexity region	141	157	N/A	INTRINSIC
low complexity region	162	175	N/A	INTRINSIC
low complexity region	185	196	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.] This gene encodes a protein that plays an important role in the organization of the actin cytoskeleton. The encoded protein binds to a region of Wiskott-Aldrich syndrome protein that is frequently mutated in Wiskott-Aldrich syndrome, an X-linked recessive disorder. Impairment of the interaction between these two proteins may contribute to the disease. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants have immunological abnormalities, although lymphocyte development appears normal. Mutants show abnormal B and T cell proliferative responses, high serum immunoglobulin levels and impaired immunological synapse formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,921,935 (GRCm39)	K1164E	probably damaging	Het
Arhgap42	G	A	9: 8,998,249 (GRCm39)		probably benign	Het
Arhgef12	T	C	9: 42,910,373 (GRCm39)	D612G	probably damaging	Het
Cpne3	T	C	4: 19,532,486 (GRCm39)	D309G	probably benign	Het
Daw1	T	C	1: 83,174,934 (GRCm39)		probably benign	Het
Daxx	T	A	17: 34,130,722 (GRCm39)	C246S	probably damaging	Het
Dpp7	T	C	2: 25,244,589 (GRCm39)	D264G	possibly damaging	Het
Dync2h1	T	A	9: 7,137,074 (GRCm39)	H1472L	probably benign	Het
Fastkd2	T	C	1: 63,777,083 (GRCm39)		probably benign	Het
Fcrl2	T	G	3: 87,166,773 (GRCm39)	R73S	probably damaging	Het
Gatb	A	G	3: 85,526,223 (GRCm39)	D367G	probably damaging	Het
Gm20547	T	A	17: 35,076,095 (GRCm39)	E654V	probably damaging	Het
Gm839	T	A	6: 89,189,509 (GRCm39)		noncoding transcript	Het
Gtf2ird2	A	T	5: 134,246,456 (GRCm39)	M905L	possibly damaging	Het
Hoxb2	A	T	11: 96,243,910 (GRCm39)	I174F	probably damaging	Het
Hrh3	A	G	2: 179,742,608 (GRCm39)	V308A	probably benign	Het
Ints9	A	G	14: 65,217,613 (GRCm39)	K47E	probably benign	Het
Irak3	A	T	10: 120,018,566 (GRCm39)	Y61N	probably damaging	Het
Itpr1	A	G	6: 108,358,276 (GRCm39)	E614G	probably damaging	Het
Lgals3	A	T	14: 47,622,982 (GRCm39)	I214L	probably benign	Het
Msh4	G	T	3: 153,577,962 (GRCm39)	T444K	possibly damaging	Het
Myh7b	C	A	2: 155,463,330 (GRCm39)	Q521K	probably damaging	Het
Naip5	T	A	13: 100,359,536 (GRCm39)	I567F	probably damaging	Het
Nf1	A	G	11: 79,325,759 (GRCm39)		probably benign	Het
Nlrc3	C	T	16: 3,771,887 (GRCm39)		probably benign	Het
Nlrc5	A	C	8: 95,233,201 (GRCm39)	E1353A	possibly damaging	Het
Nr1h3	T	A	2: 91,020,911 (GRCm39)	I260F	probably damaging	Het
Pcnx1	G	A	12: 82,010,894 (GRCm39)	R1211Q	probably damaging	Het
Pde10a	A	G	17: 9,168,293 (GRCm39)	K605E	probably damaging	Het
Pdzd2	T	C	15: 12,382,708 (GRCm39)	E1215G	possibly damaging	Het
Pex12	A	G	11: 83,188,753 (GRCm39)	S81P	probably damaging	Het
Pik3c2b	C	A	1: 132,994,718 (GRCm39)	Y227*	probably null	Het
Ppef2	C	T	5: 92,383,759 (GRCm39)	W450*	probably null	Het
Prkg2	T	G	5: 99,172,365 (GRCm39)	S117R	probably benign	Het
Prl3d2	A	T	13: 27,311,266 (GRCm39)	E179D	probably benign	Het
Relch	T	A	1: 105,647,189 (GRCm39)	L684M	possibly damaging	Het
Rxfp2	T	C	5: 149,975,021 (GRCm39)	V210A	probably benign	Het
Scn10a	T	C	9: 119,438,626 (GRCm39)	T1748A	possibly damaging	Het
Septin10	T	C	10: 59,028,000 (GRCm39)	N107S	possibly damaging	Het
Smu1	T	A	4: 40,739,550 (GRCm39)	N420I	probably damaging	Het
Sos1	A	G	17: 80,726,445 (GRCm39)	F835L	probably benign	Het
Spg11	T	C	2: 121,888,879 (GRCm39)	D2164G	probably damaging	Het
Svbp	A	G	4: 119,053,127 (GRCm39)	E8G	probably damaging	Het
Tgm3	T	A	2: 129,883,899 (GRCm39)	M519K	probably damaging	Het
Tspan12	A	G	6: 21,799,876 (GRCm39)		probably null	Het
Vps52	T	C	17: 34,177,324 (GRCm39)	V122A	probably damaging	Het
Zfp369	T	A	13: 65,442,265 (GRCm39)	D286E	possibly damaging	Het

Other mutations in Wipf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01634:Wipf1	APN	2	73,278,225 (GRCm39)	missense	unknown
IGL02391:Wipf1	APN	2	73,264,487 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Wipf1	UTSW	2	73,267,946 (GRCm39)	missense	probably damaging	1.00
R1553:Wipf1	UTSW	2	73,267,870 (GRCm39)	missense	possibly damaging	0.96
R1920:Wipf1	UTSW	2	73,270,499 (GRCm39)	missense	probably benign	0.11
R3154:Wipf1	UTSW	2	73,267,834 (GRCm39)	missense	possibly damaging	0.86
R3161:Wipf1	UTSW	2	73,265,293 (GRCm39)	missense	probably damaging	0.99
R3975:Wipf1	UTSW	2	73,267,513 (GRCm39)	missense	probably benign	0.00
R4996:Wipf1	UTSW	2	73,270,418 (GRCm39)	unclassified	probably benign
R5218:Wipf1	UTSW	2	73,274,812 (GRCm39)	missense	probably damaging	1.00
R6916:Wipf1	UTSW	2	73,267,748 (GRCm39)	missense	probably damaging	1.00
R7006:Wipf1	UTSW	2	73,267,441 (GRCm39)	missense	probably damaging	1.00
R7259:Wipf1	UTSW	2	73,265,425 (GRCm39)	missense	probably damaging	0.99
R7486:Wipf1	UTSW	2	73,270,418 (GRCm39)	unclassified	probably benign
R7689:Wipf1	UTSW	2	73,262,789 (GRCm39)	missense	probably damaging	0.98
R7712:Wipf1	UTSW	2	73,274,805 (GRCm39)	missense	probably damaging	1.00
R8094:Wipf1	UTSW	2	73,267,879 (GRCm39)	missense	possibly damaging	0.67
R8095:Wipf1	UTSW	2	73,267,879 (GRCm39)	missense	possibly damaging	0.67
R8120:Wipf1	UTSW	2	73,267,879 (GRCm39)	missense	possibly damaging	0.67
R8136:Wipf1	UTSW	2	73,267,879 (GRCm39)	missense	possibly damaging	0.67
R8150:Wipf1	UTSW	2	73,267,879 (GRCm39)	missense	possibly damaging	0.67
R8152:Wipf1	UTSW	2	73,267,879 (GRCm39)	missense	possibly damaging	0.67
R9558:Wipf1	UTSW	2	73,268,020 (GRCm39)	missense	probably damaging	1.00
Z1177:Wipf1	UTSW	2	73,267,708 (GRCm39)	missense	possibly damaging	0.49

Posted On

2016-08-02