Mutagenetix > Incidental Mutation

Incidental Mutation 'R2495:Wdfy1'

250915

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

040409-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.155) question?

Stock #

R2495 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79702262-79776143 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 79707505 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 337 (F337L)

Ref Sequence

ENSEMBL: ENSMUSP00000109143 (fasta)

Gene Model

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

AlphaFold

E9Q4P1

Predicted Effect

probably null
Transcript: ENSMUST00000113512
AA Change: F337L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109140
Gene: ENSMUSG00000073643
AA Change: F337L

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: F337L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109141
Gene: ENSMUSG00000073643
AA Change: F337L

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: F337L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109141
Gene: ENSMUSG00000073643
AA Change: F337L

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: F337L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109142
Gene: ENSMUSG00000073643
AA Change: F337L

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: F337L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109142
Gene: ENSMUSG00000073643
AA Change: F337L

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: F337L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109143
Gene: ENSMUSG00000073643
AA Change: F337L

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: F337L

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109143
Gene: ENSMUSG00000073643
AA Change: F337L

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: 95.2%

Validation Efficiency

98% (63/64)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	C	3: 36,481,960	F125S	unknown	Het
Abhd17c	C	T	7: 84,110,676	W290*	probably null	Het
Acsl5	A	T	19: 55,293,599	K536*	probably null	Het
Adamts14	A	T	10: 61,198,970		probably null	Het
Agbl3	A	G	6: 34,846,764	H788R	probably damaging	Het
Agrp	T	C	8: 105,566,776	N126D	possibly damaging	Het
Ambn	T	C	5: 88,467,804	I349T	probably benign	Het
Ank1	T	C	8: 23,132,264	W1610R	probably damaging	Het
Aox3	T	C	1: 58,188,408	L1224P	probably damaging	Het
Arhgef28	A	T	13: 98,029,373		probably benign	Het
Bcl11b	G	A	12: 107,915,447	H798Y	possibly damaging	Het
Capn11	T	A	17: 45,638,763	M426L	probably damaging	Het
Cep95	A	G	11: 106,809,282	K290E	possibly damaging	Het
Cic	A	G	7: 25,291,776		probably benign	Het
Cnbd1	A	T	4: 18,860,579	M389K	probably damaging	Het
Cnksr1	A	T	4: 134,232,162	L387Q	probably benign	Het
Cntrob	G	T	11: 69,322,923	P14T	probably damaging	Het
Crmp1	G	A	5: 37,246,097		probably null	Het
Dido1	A	G	2: 180,689,388	V89A	probably benign	Het
Dnah7a	T	A	1: 53,605,881	I999F	probably damaging	Het
Dsp	T	A	13: 38,193,477	L1746Q	possibly damaging	Het
Dst	T	C	1: 34,199,373	S3897P	probably damaging	Het
Fbxo10	A	G	4: 45,040,545	F887L	probably benign	Het
Gm21961	T	A	15: 65,014,873	H11L	unknown	Het
Gm4559	A	T	7: 142,273,820	C182S	unknown	Het
Gm5724	C	A	6: 141,765,777	M69I	probably benign	Het
Golga3	T	A	5: 110,207,596	S939T	probably damaging	Het
Got2	A	G	8: 95,888,290	S6P	possibly damaging	Het
Gpatch8	A	T	11: 102,478,481	H1410Q	probably damaging	Het
Gpx5	T	A	13: 21,291,440	T39S	probably benign	Het
Grin2b	T	C	6: 135,733,182	Y1122C	probably damaging	Het
Gsn	A	C	2: 35,303,193	N538T	probably damaging	Het
Helz2	A	G	2: 181,232,912	S1930P	probably damaging	Het
Krt6b	A	T	15: 101,678,322	F286Y	probably damaging	Het
Lrriq1	G	A	10: 103,202,381	R854C	probably damaging	Het
Mipol1	A	T	12: 57,460,990		probably benign	Het
Mmp19	A	G	10: 128,790,950		probably benign	Het
Msc	T	G	1: 14,755,249	Y167S	probably benign	Het
Mycbp2	T	G	14: 103,200,118	K2103Q	probably damaging	Het
Myh11	C	A	16: 14,205,557	D1586Y	probably damaging	Het
Nol6	A	T	4: 41,118,427	D791E	probably damaging	Het
Pcm1	A	G	8: 41,293,579	T1272A	probably benign	Het
Phgdh	A	G	3: 98,339,789	L15P	probably damaging	Het
Ptprk	A	T	10: 28,475,078		probably benign	Het
Ralgapa2	G	T	2: 146,361,400	D1091E	possibly damaging	Het
Rbbp8nl	C	A	2: 180,279,102	K496N	probably null	Het
Rbm26	T	C	14: 105,151,312		probably benign	Het
Rfx6	A	C	10: 51,726,675		probably benign	Het
Rras	G	A	7: 45,018,064	G17R	probably damaging	Het
Shisa6	G	A	11: 66,217,633	P473S	probably damaging	Het
Slc9a3	A	G	13: 74,158,703	K316E	probably damaging	Het
Spata31d1a	A	G	13: 59,701,993	S774P	possibly damaging	Het
Spsb4	T	C	9: 96,995,787	Y161C	probably damaging	Het
Taf3	G	T	2: 9,952,833	N174K	probably damaging	Het
Tectb	C	G	19: 55,180,999		probably benign	Het
Trnt1	T	A	6: 106,773,369	V78E	possibly damaging	Het
Ubox5	A	T	2: 130,599,521	C415*	probably null	Het
Ucn2	C	T	9: 108,986,409	P80S	possibly damaging	Het
Vmn2r10	G	A	5: 108,996,095	T663I	probably damaging	Het
Zfp287	A	T	11: 62,714,633	C483S	probably damaging	Het
Zyg11b	A	G	4: 108,244,724		probably null	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
R1679:Wdfy1	UTSW	1	79707475	nonsense	probably null
R1770:Wdfy1	UTSW	1	79709140	missense	probably damaging	1.00
R3821:Wdfy1	UTSW	1	79706300	missense	probably benign	0.00
R4431:Wdfy1	UTSW	1	79713866	nonsense	probably null
R8489:Wdfy1	UTSW	1	79761651	missense	probably damaging	1.00
R8923:Wdfy1	UTSW	1	79706300	missense	probably benign	0.00
R9008:Wdfy1	UTSW	1	79714980	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGTGTCACAAAGCTAGGACAG -3'
(R):5'- CCAAGTGTCAGTGATGATGCAG -3'

Sequencing Primer
(F):5'- CAAGCTGTGATACACATGCTGGC -3'
(R):5'- CAGTGATGATGCAGTGGGTG -3'

Posted On

2014-12-04