Mutagenetix > Incidental Mutations

Incidental Mutation 'R1679:Wdfy1'

188329

Institutional Source

Beutler Lab

Gene Symbol

Wdfy1

Ensembl Gene

ENSMUSG00000073643

Gene Name

WD repeat and FYVE domain containing 1

Synonyms

1700120F24Rik, 1700013B03Rik, Jr1

MMRRC Submission

039715-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R1679 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79702262-79776143 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 79707475 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 347 (C347*)

Ref Sequence

ENSEMBL: ENSMUSP00000109143 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113512] [ENSMUST00000113513] [ENSMUST00000113514] [ENSMUST00000113515] [ENSMUST00000187005]

Predicted Effect

probably null
Transcript: ENSMUST00000113512
AA Change: C347*

SMART Domains

Protein: ENSMUSP00000109140
Gene: ENSMUSG00000073643
AA Change: C347*

Domain	Start	End	E-Value	Type
WD40	13	52	4.95e-4	SMART
WD40	56	96	5.5e1	SMART
WD40	103	142	1.19e0	SMART
WD40	145	183	2.84e2	SMART
WD40	188	227	1.13e-7	SMART
WD40	231	270	1.22e-3	SMART
FYVE	276	353	3.95e-23	SMART
WD40	355	394	1.7e-2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000113513
AA Change: C347*

SMART Domains

Protein: ENSMUSP00000109141
Gene: ENSMUSG00000073643
AA Change: C347*

Domain	Start	End	E-Value	Type
WD40	13	52	4.95e-4	SMART
WD40	56	96	5.5e1	SMART
WD40	103	142	1.19e0	SMART
WD40	145	183	2.84e2	SMART
WD40	188	227	1.13e-7	SMART
WD40	231	270	1.22e-3	SMART
FYVE	276	353	3.95e-23	SMART
WD40	355	394	1.7e-2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000113514
AA Change: C347*

SMART Domains

Protein: ENSMUSP00000109142
Gene: ENSMUSG00000073643
AA Change: C347*

Domain	Start	End	E-Value	Type
WD40	13	52	4.95e-4	SMART
WD40	56	96	5.5e1	SMART
WD40	103	142	1.19e0	SMART
WD40	145	183	2.84e2	SMART
WD40	188	227	1.13e-7	SMART
WD40	231	270	1.22e-3	SMART
FYVE	276	353	3.95e-23	SMART
WD40	355	394	1.7e-2	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000113515
AA Change: C347*

SMART Domains

Protein: ENSMUSP00000109143
Gene: ENSMUSG00000073643
AA Change: C347*

Domain	Start	End	E-Value	Type
WD40	13	52	4.95e-4	SMART
WD40	56	96	5.5e1	SMART
WD40	103	142	1.19e0	SMART
WD40	145	183	2.84e2	SMART
WD40	188	227	1.13e-7	SMART
WD40	231	270	1.22e-3	SMART
FYVE	276	353	3.95e-23	SMART
WD40	355	394	1.7e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000187005

SMART Domains

Protein: ENSMUSP00000139961
Gene: ENSMUSG00000073643

Domain	Start	End	E-Value	Type
WD40	13	52	3.2e-6	SMART
Blast:WD40	56	93	1e-21	BLAST

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

98% (51/52)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a phosphatidylinositol 3-phosphate binding protein, which contains a FYVE zinc finger domain and multiple WD-40 repeat domains. When exogenously expressed, it localizes to early endosomes. Mutagenesis analysis demonstrates that this endosomal localization is mediated by the FYVE domain. [provided by RefSeq, Jan 2015]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	GCC	GC	13: 59,691,598		probably null	Het
Adam6a	A	G	12: 113,544,756	M250V	probably benign	Het
Adgre5	C	A	8: 83,729,405	R254L	probably benign	Het
Adgrv1	A	T	13: 81,559,552	L525Q	probably damaging	Het
Ano9	T	A	7: 141,108,297	I205F	probably benign	Het
Bmp5	T	C	9: 75,839,595	V245A	probably benign	Het
Capn8	T	C	1: 182,613,467	S489P	probably damaging	Het
Ccdc85a	A	G	11: 28,583,316	L76P	probably damaging	Het
Cd164l2	A	G	4: 133,221,499	T49A	probably benign	Het
Cdc25c	T	C	18: 34,747,295	T129A	probably damaging	Het
Cfap43	T	C	19: 47,773,114	D847G	probably benign	Het
Crim1	G	A	17: 78,200,799	A11T	probably benign	Het
Cul9	A	T	17: 46,521,156	L1449H	possibly damaging	Het
Cyp2a22	T	A	7: 26,936,311	K276*	probably null	Het
Cyp2c50	C	A	19: 40,111,415	T430K	possibly damaging	Het
Ddb2	C	T	2: 91,234,250	R105Q	probably benign	Het
Emilin1	T	C	5: 30,920,199	Y900H	probably benign	Het
Eml3	T	C	19: 8,936,637	F100L	probably damaging	Het
Eps8l2	G	A	7: 141,361,057	G542D	probably damaging	Het
Fbf1	A	G	11: 116,151,017		probably null	Het
Gm21886	T	C	18: 80,089,739	Y68C	probably damaging	Het
H2-Q10	A	G	17: 35,473,595		probably benign	Het
Hebp2	G	T	10: 18,544,415	T90K	possibly damaging	Het
Il1rl2	A	G	1: 40,343,160	T211A	probably benign	Het
Incenp	T	C	19: 9,895,414	D16G	unknown	Het
Isg20l2	T	A	3: 87,932,085	M201K	probably damaging	Het
Kansl1	A	T	11: 104,423,996	S405R	probably damaging	Het
Kdsr	T	A	1: 106,753,226	I81F	probably benign	Het
Leprotl1	T	G	8: 34,140,832	L7F	probably damaging	Het
Lonrf2	G	A	1: 38,813,276	P165S	probably benign	Het
Mtmr2	T	A	9: 13,789,077	I60K	probably damaging	Het
Mto1	A	G	9: 78,464,963	T572A	probably benign	Het
Nipbl	G	A	15: 8,302,912	T2287I	probably benign	Het
Nutm2	A	G	13: 50,469,386	T40A	probably benign	Het
Nxf1	T	C	19: 8,769,074	S550P	probably benign	Het
Olfr481	A	T	7: 108,081,652	N286I	probably damaging	Het
Phactr1	G	A	13: 43,057,280	V193I	possibly damaging	Het
Phactr1	A	T	13: 43,094,781	Y317F	possibly damaging	Het
Pih1d1	T	C	7: 45,159,826		probably null	Het
Rictor	T	C	15: 6,768,090	I309T	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Ruvbl2	T	C	7: 45,424,967	D216G	probably damaging	Het
Slc20a2	T	G	8: 22,538,830	S106A	possibly damaging	Het
Srprb	A	G	9: 103,192,207		probably benign	Het
Stx11	A	T	10: 12,941,836	I48N	probably damaging	Het
Vmn1r29	A	T	6: 58,308,018	Y241F	probably damaging	Het
Zfp683	T	C	4: 134,058,645	V361A	possibly damaging	Het

Other mutations in Wdfy1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01131:Wdfy1	APN	1	79713872	missense	probably benign	0.00
IGL01473:Wdfy1	APN	1	79707465	missense	probably benign	0.00
IGL01934:Wdfy1	APN	1	79740116	missense	probably damaging	1.00
IGL02052:Wdfy1	APN	1	79714944	missense	probably damaging	0.99
IGL02969:Wdfy1	APN	1	79713871	missense	probably benign	0.09
IGL03077:Wdfy1	APN	1	79714905	missense	possibly damaging	0.66
IGL03157:Wdfy1	APN	1	79706318	missense	probably damaging	1.00
R1592:Wdfy1	UTSW	1	79706255	missense	probably damaging	1.00
R1770:Wdfy1	UTSW	1	79709140	missense	probably damaging	1.00
R2495:Wdfy1	UTSW	1	79707505	missense	probably null	1.00
R3821:Wdfy1	UTSW	1	79706300	missense	probably benign	0.00
R4431:Wdfy1	UTSW	1	79713866	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGGACTACTCCAACGACCCTCATTG -3'
(R):5'- AAGCACATTCTCCCCGAGTTTACAG -3'

Sequencing Primer
(F):5'- aggcaaggcacttatccac -3'
(R):5'- TCCCCGAGTTTACAGGAATG -3'

Posted On

2014-05-09