Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02725:Wipi2'

305161

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wipi2

Ensembl Gene

ENSMUSG00000029578

Gene Name

WD repeat domain, phosphoinositide interacting 2

Synonyms

2510001I10Rik, 1110018O08Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.859) question?

Stock #

IGL02725

Quality Score

Status

Chromosome

Chromosomal Location

142615269-142655427 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 142652618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 410 (Y410F)

Ref Sequence

ENSEMBL: ENSMUSP00000045201 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036872] [ENSMUST00000110778]

AlphaFold

Q80W47

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036872
AA Change: Y410F

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000045201
Gene: ENSMUSG00000029578
AA Change: Y410F

Domain	Start	End	E-Value	Type
Blast:WD40	88	123	5e-14	BLAST
WD40	173	213	1.92e-1	SMART
WD40	216	258	1.99e0	SMART
WD40	298	340	4.75e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110778
AA Change: Y390F

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000106405
Gene: ENSMUSG00000029578
AA Change: Y390F

Domain	Start	End	E-Value	Type
Blast:WD40	88	123	6e-14	BLAST
WD40	173	213	1.92e-1	SMART
WD40	216	258	1.99e0	SMART
WD40	298	340	4.75e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143980

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153936

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] WD40 repeat proteins are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins, such as WIPI2, have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids (Proikas-Cezanne et al., 2004 [PubMed 15602573]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,611,445 (GRCm39)	I414T	possibly damaging	Het
Agpat3	A	C	10: 78,113,889 (GRCm39)	D266E	probably benign	Het
Alpk3	G	T	7: 80,743,358 (GRCm39)	Q1058H	possibly damaging	Het
Atat1	A	T	17: 36,220,381 (GRCm39)	V37E	probably benign	Het
Bcl6b	A	G	11: 70,119,344 (GRCm39)	V124A	probably damaging	Het
Bmt2	T	C	6: 13,628,495 (GRCm39)	E396G	probably damaging	Het
Ccdc50	T	C	16: 27,255,347 (GRCm39)	C237R	probably benign	Het
Chd9	A	G	8: 91,778,312 (GRCm39)	I2790M	possibly damaging	Het
Chkb	A	G	15: 89,313,340 (GRCm39)	L82P	probably damaging	Het
Cit	T	C	5: 116,123,532 (GRCm39)	Y1458H	probably benign	Het
Clp1	T	A	2: 84,554,208 (GRCm39)	K320N	probably benign	Het
Cry2	T	C	2: 92,243,605 (GRCm39)		probably benign	Het
Cyp20a1	C	T	1: 60,405,865 (GRCm39)	R220W	probably benign	Het
Cyp27a1	C	T	1: 74,774,862 (GRCm39)	P268S	probably damaging	Het
Cyp2e1	T	G	7: 140,343,828 (GRCm39)	I22S	probably null	Het
Defb34	A	G	8: 19,173,774 (GRCm39)	T3A	unknown	Het
Dpy19l3	A	T	7: 35,411,343 (GRCm39)	M422K	probably benign	Het
Eif4g3	A	T	4: 137,897,782 (GRCm39)		probably benign	Het
Elmod3	A	G	6: 72,571,758 (GRCm39)	S7P	probably damaging	Het
Fam151a	T	G	4: 106,605,211 (GRCm39)	S524R	probably damaging	Het
Gcc1	A	T	6: 28,418,458 (GRCm39)	V625E	probably benign	Het
Glmn	G	A	5: 107,723,155 (GRCm39)	P112S	possibly damaging	Het
Grm5	A	C	7: 87,723,873 (GRCm39)	D721A	probably damaging	Het
Hivep3	T	C	4: 119,953,019 (GRCm39)	V445A	possibly damaging	Het
Hmcn1	T	A	1: 150,480,654 (GRCm39)	E4507D	possibly damaging	Het
Hmcn2	A	C	2: 31,295,540 (GRCm39)	E2583A	probably damaging	Het
Ifnb1	T	A	4: 88,440,867 (GRCm39)	I49F	probably benign	Het
Ints8	A	C	4: 11,239,406 (GRCm39)	C306W	probably benign	Het
Jakmip2	A	G	18: 43,695,655 (GRCm39)	S540P	probably damaging	Het
Kctd1	A	G	18: 15,102,667 (GRCm39)	V838A	possibly damaging	Het
Klk10	T	C	7: 43,431,044 (GRCm39)	L29P	probably damaging	Het
Lyst	T	A	13: 13,935,412 (GRCm39)	I3627K	probably damaging	Het
Maml3	A	G	3: 52,011,195 (GRCm39)	S124P	probably damaging	Het
Nav2	A	T	7: 49,214,843 (GRCm39)	K1632I	probably damaging	Het
Or2ab1	T	C	11: 58,488,690 (GRCm39)	V156A	probably benign	Het
Pde2a	G	T	7: 101,156,425 (GRCm39)	M616I	probably null	Het
Pdia2	T	C	17: 26,415,506 (GRCm39)	D440G	probably benign	Het
Rab11fip5	A	G	6: 85,351,471 (GRCm39)	S14P	probably damaging	Het
Rhpn2	T	C	7: 35,079,031 (GRCm39)	S383P	probably damaging	Het
Rnf220	A	G	4: 117,129,576 (GRCm39)		probably benign	Het
Rnf43	A	G	11: 87,622,411 (GRCm39)	D504G	probably damaging	Het
Setbp1	A	T	18: 78,900,589 (GRCm39)	L1026*	probably null	Het
Slc1a4	A	T	11: 20,258,408 (GRCm39)	S264T	probably damaging	Het
Snx19	A	G	9: 30,343,556 (GRCm39)	N572S	possibly damaging	Het
Sptan1	T	C	2: 29,886,055 (GRCm39)	I739T	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stat5b	A	T	11: 100,695,840 (GRCm39)	D47E	possibly damaging	Het
Taar7b	A	T	10: 23,875,961 (GRCm39)	Y42F	probably benign	Het
Tfdp2	T	A	9: 96,169,748 (GRCm39)	I33K	possibly damaging	Het
Tm4sf5	A	G	11: 70,401,448 (GRCm39)	H149R	probably benign	Het
Tmco6	A	G	18: 36,871,760 (GRCm39)	M257V	probably benign	Het
Tuba8	G	T	6: 121,202,916 (GRCm39)	G410*	probably null	Het
Ubd	T	A	17: 37,504,853 (GRCm39)	V4D	probably benign	Het
Ugt2b34	C	T	5: 87,054,284 (GRCm39)	V166I	probably benign	Het
Vmn2r70	C	T	7: 85,214,553 (GRCm39)	V200I	possibly damaging	Het
Wdcp	A	T	12: 4,901,206 (GRCm39)	N354I	probably damaging	Het
Zc3hav1	G	T	6: 38,309,127 (GRCm39)	P565Q	probably damaging	Het
Zfp398	T	C	6: 47,842,737 (GRCm39)	V131A	probably benign	Het
Zkscan3	T	C	13: 21,579,063 (GRCm39)	D144G	possibly damaging	Het
Zpbp	T	A	11: 11,412,358 (GRCm39)		probably benign	Het

Other mutations in Wipi2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00679:Wipi2	APN	5	142,644,904 (GRCm39)	missense	probably damaging	1.00
IGL00737:Wipi2	APN	5	142,652,625 (GRCm39)	missense	probably benign	0.00
IGL01388:Wipi2	APN	5	142,646,798 (GRCm39)	missense	possibly damaging	0.82
IGL02523:Wipi2	APN	5	142,646,787 (GRCm39)	missense	probably damaging	1.00
IGL03121:Wipi2	APN	5	142,648,857 (GRCm39)	missense	probably benign	0.39
PIT4445001:Wipi2	UTSW	5	142,652,639 (GRCm39)	missense	probably benign
R0677:Wipi2	UTSW	5	142,643,989 (GRCm39)	missense	probably damaging	1.00
R1818:Wipi2	UTSW	5	142,643,963 (GRCm39)	missense	probably damaging	1.00
R4670:Wipi2	UTSW	5	142,645,345 (GRCm39)	missense	probably benign
R6414:Wipi2	UTSW	5	142,641,693 (GRCm39)	missense	probably damaging	1.00
R6820:Wipi2	UTSW	5	142,615,555 (GRCm39)	missense	probably benign	0.00
R7575:Wipi2	UTSW	5	142,643,987 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16