Mutagenetix > Incidental Mutations

Incidental Mutation 'R7720:Wipi1'

595185

Institutional Source

Beutler Lab

Gene Symbol

Wipi1

Ensembl Gene

ENSMUSG00000041895

Gene Name

WD repeat domain, phosphoinositide interacting 1

Synonyms

4930533H01Rik, D11Ertd498e

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.530) question?

Stock #

R7720 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109573331-109611967 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 109582423 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Tyrosine at position 250 (S250Y)

Ref Sequence

ENSEMBL: ENSMUSP00000099349 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047186] [ENSMUST00000103060] [ENSMUST00000106689]

Predicted Effect

probably damaging
Transcript: ENSMUST00000047186
AA Change: S250Y

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

SMART Domains

Protein: ENSMUSP00000038635
Gene: ENSMUSG00000041895
AA Change: S250Y

Domain	Start	End	E-Value	Type
low complexity region	68	76	N/A	INTRINSIC
Blast:WD40	90	125	7e-12	BLAST
WD40	175	215	3.45e-3	SMART
WD40	218	260	4.13e0	SMART
WD40	306	342	4.93e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000103060
AA Change: S250Y

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

SMART Domains

Protein: ENSMUSP00000099349
Gene: ENSMUSG00000041895
AA Change: S250Y

Domain	Start	End	E-Value	Type
low complexity region	68	76	N/A	INTRINSIC
Blast:WD40	90	125	6e-12	BLAST
WD40	175	215	3.45e-3	SMART
WD40	218	260	4.13e0	SMART
WD40	306	342	4.93e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106689
AA Change: S250Y

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

SMART Domains

Protein: ENSMUSP00000102300
Gene: ENSMUSG00000041895
AA Change: S250Y

Domain	Start	End	E-Value	Type
low complexity region	68	76	N/A	INTRINSIC
Blast:WD40	90	125	2e-11	BLAST
Blast:WD40	128	172	1e-6	BLAST
WD40	175	215	3.45e-3	SMART
WD40	218	260	4.13e0	SMART

Meta Mutation Damage Score

0.8764

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (51/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WD40 repeat protein. Members of the WD40 repeat family 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 have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810013L24Rik	T	A	16: 8,843,102	C148S	probably damaging	Het
4921530L21Rik	A	G	14: 95,882,112	R102G	probably benign	Het
A230050P20Rik	C	T	9: 20,868,859		probably benign	Het
Agap2	A	G	10: 127,091,088	D1018G	probably damaging	Het
Atm	T	C	9: 53,522,239	N237S	possibly damaging	Het
Card6	G	T	15: 5,098,423	Q1164K	unknown	Het
Cped1	G	A	6: 22,222,431	C730Y	probably damaging	Het
Csmd1	A	T	8: 15,931,108	L2770Q	probably damaging	Het
Ctsw	T	C	19: 5,467,044	T87A	probably damaging	Het
Dock4	T	C	12: 40,806,975	I1269T	probably damaging	Het
F11	T	C	8: 45,252,090	E138G	possibly damaging	Het
Fam124b	A	G	1: 80,200,257	S342P	probably damaging	Het
Fam71d	T	C	12: 78,712,133	S76P	probably damaging	Het
Gipr	T	C	7: 19,162,959	I129V	probably benign	Het
Gm5415	T	C	1: 32,546,097	D244G	probably benign	Het
Gria4	A	T	9: 4,464,288	V558D	probably damaging	Het
Gsdme	C	T	6: 50,229,308	G185E	probably damaging	Het
Hgd	T	A	16: 37,593,435	D86E	probably benign	Het
Hmcn1	T	A	1: 150,646,709	H3480L	probably benign	Het
Hs2st1	T	C	3: 144,454,022	N127D	probably damaging	Het
Ilf3	A	G	9: 21,399,537	N599S	possibly damaging	Het
Itsn1	G	A	16: 91,868,083	G1132R	unknown	Het
Jakmip2	A	G	18: 43,571,908	S343P	possibly damaging	Het
Kif1b	A	G	4: 149,182,355	V1670A	probably benign	Het
Lman2	A	T	13: 55,353,077		probably null	Het
Ltbp1	A	T	17: 75,385,124	Y1579F	probably damaging	Het
Mon2	G	A	10: 123,032,588	A520V	probably benign	Het
Mrpl10	T	G	11: 97,047,537	V171G	possibly damaging	Het
Mrps27	A	T	13: 99,401,330	T153S	unknown	Het
Muc5ac	G	C	7: 141,809,303	G2117A	unknown	Het
Nlrp10	A	G	7: 108,924,488	V595A	probably benign	Het
Nol4	A	T	18: 23,040,023	M7K	probably benign	Het
Oasl1	G	A	5: 114,929,921	S188N	probably damaging	Het
Olfr193	T	C	16: 59,109,771	I280V	probably benign	Het
Olfr709-ps1	C	A	7: 106,927,411	G16V	probably benign	Het
Pcdhga2	A	G	18: 37,669,940	Y279C	probably damaging	Het
Pfpl	C	T	19: 12,429,174	A263V	probably benign	Het
Phf3	T	G	1: 30,829,857	K703N	probably damaging	Het
Pik3ca	C	G	3: 32,436,218	P5A	probably damaging	Het
Plekha6	T	C	1: 133,293,707	V987A	probably damaging	Het
Ppp3ca	T	A	3: 136,890,489	I305N	probably damaging	Het
Prex2	A	G	1: 11,181,937	K1069E	possibly damaging	Het
Prss50	T	C	9: 110,861,335	V182A	probably damaging	Het
Ptprg	A	G	14: 12,211,703	N995S	probably benign	Het
Robo2	C	A	16: 73,897,015	G1375V	probably benign	Het
Rtl1	T	C	12: 109,594,430	Y325C	possibly damaging	Het
Shcbp1	A	C	8: 4,748,720	S400A	probably damaging	Het
Sirpb1c	T	A	3: 15,832,072	Y380F	probably benign	Het
Tbl2	G	C	5: 135,159,475	L374F	probably damaging	Het
Tpr	C	A	1: 150,429,532	A1524E	possibly damaging	Het
Vmn2r45	T	A	7: 8,483,461	E276V	probably damaging	Het
Vps16	C	T	2: 130,441,703	Q606*	probably null	Het
Vstm5	A	T	9: 15,239,356	Q29L	probably benign	Het

Other mutations in Wipi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00820:Wipi1	APN	11	109583119	splice site	probably benign
IGL02431:Wipi1	APN	11	109603791	missense	probably damaging	1.00
R0082:Wipi1	UTSW	11	109578284	unclassified	probably benign
R0400:Wipi1	UTSW	11	109577130	missense	probably damaging	1.00
R1420:Wipi1	UTSW	11	109578372	missense	probably benign	0.34
R2029:Wipi1	UTSW	11	109583190	missense	probably damaging	1.00
R2077:Wipi1	UTSW	11	109577664	missense	probably benign	0.04
R4324:Wipi1	UTSW	11	109603836	missense	possibly damaging	0.63
R4928:Wipi1	UTSW	11	109579649	missense	probably benign	0.04
R6964:Wipi1	UTSW	11	109603764	missense	probably benign	0.15
R7283:Wipi1	UTSW	11	109611311	start codon destroyed	probably null	0.23
R7739:Wipi1	UTSW	11	109579709	missense	probably damaging	1.00
R8755:Wipi1	UTSW	11	109603819	missense	probably damaging	1.00
Z1177:Wipi1	UTSW	11	109597198	missense	probably damaging	1.00
Z1177:Wipi1	UTSW	11	109603801	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCACGGACTCTACTACACTG -3'
(R):5'- TTGAATCCCTCCCATGTGGC -3'

Sequencing Primer
(F):5'- GGACTCTACTACACTGGCAAC -3'
(R):5'- TCCCATGTGGCTTTTTAAACATG -3'

Posted On

2019-11-12