Mutagenetix > Incidental Mutation

Incidental Mutation 'R4431:Wdfy1'

328589

Institutional Source

Beutler Lab

Gene Symbol

Wdfy1

Ensembl Gene

ENSMUSG00000073643

Gene Name

WD repeat and FYVE domain containing 1

Synonyms

1700013B03Rik, 1700120F24Rik, Jr1

MMRRC Submission

041146-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R4431 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79679979-79753764 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 79691583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 275 (R275*)

Ref Sequence

ENSEMBL: ENSMUSP00000109143 (fasta)

Gene Model

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

AlphaFold

E9Q4P1

Predicted Effect

probably null
Transcript: ENSMUST00000113512
AA Change: R275*

SMART Domains

Protein: ENSMUSP00000109140
Gene: ENSMUSG00000073643
AA Change: R275*

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: R275*

SMART Domains

Protein: ENSMUSP00000109141
Gene: ENSMUSG00000073643
AA Change: R275*

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: R275*

SMART Domains

Protein: ENSMUSP00000109142
Gene: ENSMUSG00000073643
AA Change: R275*

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: R275*

SMART Domains

Protein: ENSMUSP00000109143
Gene: ENSMUSG00000073643
AA Change: R275*

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: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (52/52)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 64,056,182 (GRCm39)		probably benign	Het
2510039O18Rik	T	C	4: 148,026,022 (GRCm39)	S181P	probably benign	Het
4930522L14Rik	A	T	5: 109,884,440 (GRCm39)	C473S	possibly damaging	Het
4930523C07Rik	A	T	1: 159,872,149 (GRCm39)		noncoding transcript	Het
Aak1	A	G	6: 86,963,300 (GRCm39)	K910R	unknown	Het
Abca2	A	G	2: 25,332,864 (GRCm39)	D1521G	probably benign	Het
Adamts20	C	A	15: 94,241,924 (GRCm39)	D695Y	probably damaging	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Bltp3a	A	G	17: 28,104,905 (GRCm39)	N533S	probably damaging	Het
Bspry	T	A	4: 62,400,904 (GRCm39)	I132N	possibly damaging	Het
Cfap300	A	G	9: 8,027,178 (GRCm39)	V120A	probably damaging	Het
Cfh	T	C	1: 140,064,004 (GRCm39)	Y424C	probably damaging	Het
Chd2	T	C	7: 73,085,709 (GRCm39)	R1642G	possibly damaging	Het
Chrm2	A	G	6: 36,501,097 (GRCm39)	D318G	probably benign	Het
Chrna4	A	G	2: 180,670,413 (GRCm39)	S448P	probably damaging	Het
Cldn8	A	C	16: 88,359,619 (GRCm39)	M102R	probably damaging	Het
Dock8	T	C	19: 25,042,754 (GRCm39)	V112A	probably benign	Het
Fbxo42	C	A	4: 140,927,861 (GRCm39)	R714S	probably damaging	Het
Fmo1	G	A	1: 162,661,281 (GRCm39)	A334V	possibly damaging	Het
Gpr68	A	T	12: 100,865,650 (GRCm39)		probably benign	Het
Gramd4	A	G	15: 86,014,361 (GRCm39)	K345R	probably damaging	Het
Gtpbp1	T	G	15: 79,600,398 (GRCm39)	S444A	probably damaging	Het
Ints12	T	C	3: 132,808,242 (GRCm39)	Y207H	probably damaging	Het
Kat2b-ps	A	T	5: 93,540,443 (GRCm39)		noncoding transcript	Het
Klhl25	T	A	7: 75,515,162 (GRCm39)	F23I	probably damaging	Het
Lamc1	A	G	1: 153,097,274 (GRCm39)	I1590T	probably damaging	Het
Lhfpl4	A	G	6: 113,170,805 (GRCm39)	I127T	possibly damaging	Het
Lrrc71	A	G	3: 87,650,143 (GRCm39)	S286P	possibly damaging	Het
Man1c1	A	T	4: 134,430,329 (GRCm39)	V151D	probably damaging	Het
Mipol1	G	A	12: 57,350,310 (GRCm39)	R36Q	possibly damaging	Het
Nuggc	T	A	14: 65,848,659 (GRCm39)	W187R	probably benign	Het
Or4a71	A	G	2: 89,357,987 (GRCm39)	Y256H	probably damaging	Het
Pkhd1	G	A	1: 20,593,538 (GRCm39)	T1525I	probably damaging	Het
Pomp	A	G	5: 147,812,289 (GRCm39)	E125G	probably damaging	Het
Ptar1	G	T	19: 23,671,695 (GRCm39)	G33C	probably damaging	Het
Ptpn3	A	G	4: 57,235,355 (GRCm39)	S335P	probably damaging	Het
Pus7	A	G	5: 23,951,487 (GRCm39)	Y521H	probably benign	Het
Shank1	C	T	7: 43,969,076 (GRCm39)	R324*	probably null	Het
Slc12a3	A	T	8: 95,069,713 (GRCm39)	I541F	probably damaging	Het
Slc12a9	G	A	5: 137,319,775 (GRCm39)	P580L	probably benign	Het
Spz1	A	G	13: 92,711,837 (GRCm39)	L213P	probably damaging	Het
Strn	A	G	17: 79,043,891 (GRCm39)	V9A	probably damaging	Het
Sytl5	A	T	X: 9,826,262 (GRCm39)	N412Y	probably damaging	Het
Tert	T	A	13: 73,775,594 (GRCm39)	F115Y	probably damaging	Het
Tmem67	T	A	4: 12,051,473 (GRCm39)	N785I	possibly damaging	Het
Trf	T	C	9: 103,089,075 (GRCm39)	N243S	possibly damaging	Het
Ttc3	T	C	16: 94,211,817 (GRCm39)		probably null	Het
Vmn2r22	T	C	6: 123,614,817 (GRCm39)	T258A	possibly damaging	Het
Vps13b	A	C	15: 35,770,899 (GRCm39)	Q2114P	probably damaging	Het
Wnt2b	A	G	3: 104,860,256 (GRCm39)	L217S	probably damaging	Het

Other mutations in Wdfy1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01131:Wdfy1	APN	1	79,691,589 (GRCm39)	missense	probably benign	0.00
IGL01473:Wdfy1	APN	1	79,685,182 (GRCm39)	missense	probably benign	0.00
IGL01934:Wdfy1	APN	1	79,717,833 (GRCm39)	missense	probably damaging	1.00
IGL02052:Wdfy1	APN	1	79,692,661 (GRCm39)	missense	probably damaging	0.99
IGL02969:Wdfy1	APN	1	79,691,588 (GRCm39)	missense	probably benign	0.09
IGL03077:Wdfy1	APN	1	79,692,622 (GRCm39)	missense	possibly damaging	0.66
IGL03157:Wdfy1	APN	1	79,684,035 (GRCm39)	missense	probably damaging	1.00
R1592:Wdfy1	UTSW	1	79,683,972 (GRCm39)	missense	probably damaging	1.00
R1679:Wdfy1	UTSW	1	79,685,192 (GRCm39)	nonsense	probably null
R1770:Wdfy1	UTSW	1	79,686,857 (GRCm39)	missense	probably damaging	1.00
R2495:Wdfy1	UTSW	1	79,685,222 (GRCm39)	missense	probably null	1.00
R3821:Wdfy1	UTSW	1	79,684,017 (GRCm39)	missense	probably benign	0.00
R8489:Wdfy1	UTSW	1	79,739,368 (GRCm39)	missense	probably damaging	1.00
R8923:Wdfy1	UTSW	1	79,684,017 (GRCm39)	missense	probably benign	0.00
R9008:Wdfy1	UTSW	1	79,692,697 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTGAACTTTGTTAGGCAATAATC -3'
(R):5'- ATGAGGCACAGTCCTCGTTAC -3'

Sequencing Primer
(F):5'- TTGTTAGGCAATAATCCATAGGTGG -3'
(R):5'- TCGTTACCACACCAAATACATAGTG -3'

Posted On

2015-07-21