Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01473:Wdfy1'

88361

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdfy1

Ensembl Gene

ENSMUSG00000073643

Gene Name

WD repeat and FYVE domain containing 1

Synonyms

1700120F24Rik, 1700013B03Rik, Jr1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

IGL01473

Quality Score

Status

Chromosome

Chromosomal Location

79702262-79776143 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79707465 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 351 (I351V)

Ref Sequence

ENSEMBL: ENSMUSP00000109143 (fasta)

Gene Model

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

AlphaFold

E9Q4P1

Predicted Effect

probably benign
Transcript: ENSMUST00000113512
AA Change: I351V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000109140
Gene: ENSMUSG00000073643
AA Change: I351V

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: ENSMUST00000113513
AA Change: I351V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000109141
Gene: ENSMUSG00000073643
AA Change: I351V

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: ENSMUST00000113514
AA Change: I351V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000109142
Gene: ENSMUSG00000073643
AA Change: I351V

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: ENSMUST00000113515
AA Change: I351V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000109143
Gene: ENSMUSG00000073643
AA Change: I351V

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

Coding Region Coverage

Validation Efficiency

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp13a5	T	C	16: 29,316,724	Y350C	probably damaging	Het
Ccdc151	C	A	9: 21,995,379		probably null	Het
Clca1	C	T	3: 145,007,778	M697I	probably benign	Het
Clcn1	C	A	6: 42,291,703	A181D	probably damaging	Het
Cylc1	G	T	X: 111,122,680	K243N	unknown	Het
Dsp	A	G	13: 38,167,571	Y122C	probably damaging	Het
Exoc5	A	G	14: 49,014,294	V665A	possibly damaging	Het
Fcho1	G	A	8: 71,712,138	P500S	probably benign	Het
Flg2	A	G	3: 93,203,020	E785G	unknown	Het
Fpr1	A	G	17: 17,877,692	S12P	possibly damaging	Het
Hydin	A	T	8: 110,312,160	M177L	probably benign	Het
Hydin	G	T	8: 110,354,953	G327V	probably damaging	Het
Itga10	G	A	3: 96,647,641	G97E	probably damaging	Het
Khdc1c	T	A	1: 21,368,906	Y39N	possibly damaging	Het
Lrp1b	T	G	2: 40,611,486	T202P	probably damaging	Het
March10	T	C	11: 105,389,605	K618R	probably damaging	Het
Mdc1	C	A	17: 35,848,020	L431I	probably benign	Het
Mmp17	A	G	5: 129,606,408	D536G	probably benign	Het
Myh8	G	A	11: 67,301,825		probably null	Het
Pop4	A	G	7: 38,264,396	V154A	probably benign	Het
Ppp1r13l	C	T	7: 19,375,268	R608C	probably damaging	Het
Prss36	T	C	7: 127,944,701	H166R	probably damaging	Het
Rab11fip3	C	T	17: 26,068,735	R148Q	possibly damaging	Het
Rbm39	T	A	2: 156,172,979	R49*	probably null	Het
S100a11	T	C	3: 93,526,106	C86R	probably damaging	Het
Skint7	T	C	4: 111,982,205	I232T	probably damaging	Het
Smchd1	G	A	17: 71,389,750	T1210I	probably benign	Het
Speg	C	T	1: 75,428,285	T2907I	possibly damaging	Het
Spz1	A	T	13: 92,575,256	C237*	probably null	Het
Sun3	G	T	11: 9,029,394	D42E	probably benign	Het
Tgds	C	T	14: 118,128,214		probably benign	Het
Tnxb	G	A	17: 34,685,701	D1270N	probably damaging	Het
Vmn2r78	A	C	7: 86,920,312	T138P	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
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
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
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

Posted On

2013-11-18