Mutagenetix > Incidental Mutation

Incidental Mutation 'R8755:Wipi1'

664127

Institutional Source

Beutler Lab

Gene Symbol

Wipi1

Ensembl Gene

ENSMUSG00000041895

Gene Name

WD repeat domain, phosphoinositide interacting 1

Synonyms

D11Ertd498e, 4930533H01Rik

MMRRC Submission

068596-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R8755 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

109464347-109502215 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 109494645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 63 (V63M)

Ref Sequence

ENSEMBL: ENSMUSP00000099349 (fasta)

Gene Model

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

AlphaFold

Q8R3E3

Predicted Effect

probably damaging
Transcript: ENSMUST00000047186
AA Change: V63M

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

SMART Domains

Protein: ENSMUSP00000038635
Gene: ENSMUSG00000041895
AA Change: V63M

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: V63M

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

SMART Domains

Protein: ENSMUSP00000099349
Gene: ENSMUSG00000041895
AA Change: V63M

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: V63M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102300
Gene: ENSMUSG00000041895
AA Change: V63M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaas	A	C	15: 102,255,520 (GRCm39)	D86E	probably benign	Het
Akap3	A	G	6: 126,843,130 (GRCm39)	D583G	possibly damaging	Het
Alms1	T	A	6: 85,598,556 (GRCm39)	D1127E	probably benign	Het
Anks4b	T	A	7: 119,773,307 (GRCm39)		probably null	Het
Ano8	A	T	8: 71,935,724 (GRCm39)	F298Y	probably benign	Het
Arhgef2	C	A	3: 88,536,850 (GRCm39)	Q7K	probably benign	Het
Brd10	T	C	19: 29,693,890 (GRCm39)	I1868V	probably benign	Het
Cand2	T	C	6: 115,769,941 (GRCm39)	L917P	probably damaging	Het
Car8	T	C	4: 8,238,083 (GRCm39)	D44G	probably benign	Het
Cdk1	T	C	10: 69,176,435 (GRCm39)	N224S	probably benign	Het
Cep162	T	C	9: 87,114,064 (GRCm39)	E336G	probably benign	Het
Chd7	T	C	4: 8,866,069 (GRCm39)	M2792T	probably benign	Het
Cyp4f40	A	T	17: 32,886,957 (GRCm39)	K143*	probably null	Het
Cyth1	T	A	11: 118,074,768 (GRCm39)	M178L	probably benign	Het
Dcaf11	C	T	14: 55,798,023 (GRCm39)		probably benign	Het
Dlec1	T	G	9: 118,967,225 (GRCm39)	W1203G	probably damaging	Het
Fgd4	A	T	16: 16,302,133 (GRCm39)	S141T	probably benign	Het
Firrm	A	G	1: 163,786,895 (GRCm39)	S725P	probably damaging	Het
Flg2	T	A	3: 93,108,120 (GRCm39)	D49E	probably damaging	Het
Fyb2	T	A	4: 104,861,086 (GRCm39)	D647E	unknown	Het
Gstp1	T	C	19: 4,086,698 (GRCm39)	Y109C	probably damaging	Het
Gtf3c3	T	C	1: 54,468,031 (GRCm39)	E202G	probably benign	Het
Hephl1	A	G	9: 14,985,563 (GRCm39)	F698L	probably benign	Het
Hephl1	G	T	9: 15,023,280 (GRCm39)	P41T	probably damaging	Het
Hmcn1	T	A	1: 150,509,371 (GRCm39)	E3659V	probably benign	Het
Il27ra	A	T	8: 84,765,988 (GRCm39)	D229E	probably damaging	Het
Itih2	T	A	2: 10,103,369 (GRCm39)	D706V	probably damaging	Het
Itpr2	A	T	6: 146,133,926 (GRCm39)	C1893S	probably benign	Het
Lama5	T	C	2: 179,832,714 (GRCm39)	N1646S	probably benign	Het
Laptm4b	A	G	15: 34,273,420 (GRCm39)	D111G	probably damaging	Het
Ldb3	T	A	14: 34,299,256 (GRCm39)	S123C	probably damaging	Het
Lgals12	C	T	19: 7,581,345 (GRCm39)	E121K	possibly damaging	Het
Mmp13	T	A	9: 7,277,996 (GRCm39)	S296R	possibly damaging	Het
Mpeg1	T	C	19: 12,439,238 (GRCm39)	F232S	probably damaging	Het
Ncapd2	A	T	6: 125,148,817 (GRCm39)	C990S	possibly damaging	Het
Nckap5	A	T	1: 125,954,279 (GRCm39)	C758S	possibly damaging	Het
Nwd1	A	T	8: 73,394,192 (GRCm39)	D485V	probably damaging	Het
Or13a21	T	G	7: 139,999,417 (GRCm39)	S90R	probably benign	Het
Or6c2	T	C	10: 129,362,332 (GRCm39)	F79L	possibly damaging	Het
Or8g50	T	A	9: 39,648,786 (GRCm39)	I225N	probably damaging	Het
Pcgf3	G	A	5: 108,634,108 (GRCm39)	R122Q	probably benign	Het
Pgm5	T	A	19: 24,812,212 (GRCm39)	I107F	probably damaging	Het
Pid1	G	T	1: 84,016,066 (GRCm39)	H114N	probably damaging	Het
Pkdrej	T	C	15: 85,703,807 (GRCm39)	T710A	probably benign	Het
Plpbp	T	A	8: 27,535,165 (GRCm39)		probably null	Het
Ppfibp2	T	G	7: 107,343,432 (GRCm39)	F824V	probably damaging	Het
Ppp1r16b	G	A	2: 158,593,098 (GRCm39)	D226N	probably damaging	Het
Psg17	T	A	7: 18,550,836 (GRCm39)	T340S	possibly damaging	Het
Pstpip2	T	C	18: 77,961,133 (GRCm39)	S239P	probably damaging	Het
Ralbp1	A	C	17: 66,166,036 (GRCm39)	S383A	possibly damaging	Het
Ranbp2	T	A	10: 58,300,969 (GRCm39)	L613*	probably null	Het
Rgs11	T	C	17: 26,422,346 (GRCm39)	V49A	probably damaging	Het
Ryr1	C	T	7: 28,791,693 (GRCm39)	V1404I	probably benign	Het
Secisbp2	G	A	13: 51,833,869 (GRCm39)	V670I	possibly damaging	Het
Slc22a13	T	A	9: 119,038,126 (GRCm39)	M1L	probably damaging	Het
Slc5a1	A	T	5: 33,316,526 (GRCm39)	I591L	probably benign	Het
Tacr2	T	A	10: 62,088,733 (GRCm39)	V46E	possibly damaging	Het
Tet2	C	T	3: 133,194,039 (GRCm39)	G132S	probably damaging	Het
Thsd7a	G	A	6: 12,408,851 (GRCm39)	R724*	probably null	Het
Tmco3	A	T	8: 13,341,782 (GRCm39)	I19L	probably benign	Het
Tnfrsf1a	T	A	6: 125,334,768 (GRCm39)	L14Q	probably benign	Het
Tpm1	A	T	9: 66,935,371 (GRCm39)	L248Q	probably benign	Het
Tprn	T	A	2: 25,154,027 (GRCm39)	I443N	probably benign	Het
Unc80	A	T	1: 66,651,290 (GRCm39)	H1545L	possibly damaging	Het
Vmn2r97	T	A	17: 19,168,104 (GRCm39)	M786K	probably damaging	Het
Zcchc4	G	A	5: 52,976,724 (GRCm39)	R506H	unknown	Het
Zfand6	A	T	7: 84,281,899 (GRCm39)	V110E	probably benign	Het
Zfp866	A	T	8: 70,219,381 (GRCm39)	Y80N	possibly damaging	Het

Other mutations in Wipi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00820:Wipi1	APN	11	109,473,945 (GRCm39)	splice site	probably benign
IGL02431:Wipi1	APN	11	109,494,617 (GRCm39)	missense	probably damaging	1.00
R0082:Wipi1	UTSW	11	109,469,110 (GRCm39)	unclassified	probably benign
R0400:Wipi1	UTSW	11	109,467,956 (GRCm39)	missense	probably damaging	1.00
R1420:Wipi1	UTSW	11	109,469,198 (GRCm39)	missense	probably benign	0.34
R2029:Wipi1	UTSW	11	109,474,016 (GRCm39)	missense	probably damaging	1.00
R2077:Wipi1	UTSW	11	109,468,490 (GRCm39)	missense	probably benign	0.04
R4324:Wipi1	UTSW	11	109,494,662 (GRCm39)	missense	possibly damaging	0.63
R4928:Wipi1	UTSW	11	109,470,475 (GRCm39)	missense	probably benign	0.04
R6964:Wipi1	UTSW	11	109,494,590 (GRCm39)	missense	probably benign	0.15
R7283:Wipi1	UTSW	11	109,502,137 (GRCm39)	start codon destroyed	probably null	0.23
R7720:Wipi1	UTSW	11	109,473,249 (GRCm39)	missense	probably damaging	1.00
R7739:Wipi1	UTSW	11	109,470,535 (GRCm39)	missense	probably damaging	1.00
R9256:Wipi1	UTSW	11	109,473,952 (GRCm39)	critical splice donor site	probably null
Z1177:Wipi1	UTSW	11	109,494,627 (GRCm39)	missense	probably damaging	1.00
Z1177:Wipi1	UTSW	11	109,488,024 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCCAATTAACAGAAGGCTGGAC -3'
(R):5'- TAAAGCCTGTTGTTGGGGCC -3'

Sequencing Primer
(F):5'- TTAACAGAAGGCTGGACATCTTGTG -3'
(R):5'- TTGGGGCCAGGATGGGAC -3'

Posted On

2021-03-08