Incidental Mutation 'IGL02052:Wdfy1'
ID185108
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wdfy1
Ensembl Gene ENSMUSG00000073643
Gene NameWD repeat and FYVE domain containing 1
Synonyms1700120F24Rik, 1700013B03Rik, Jr1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.166) question?
Stock #IGL02052
Quality Score
Status
Chromosome1
Chromosomal Location79702262-79776143 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 79714944 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 219 (S219P)
Ref Sequence ENSEMBL: ENSMUSP00000109143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113510] [ENSMUST00000113511] [ENSMUST00000113512] [ENSMUST00000113513] [ENSMUST00000113514] [ENSMUST00000113515] [ENSMUST00000187005]
Predicted Effect probably benign
Transcript: ENSMUST00000113510
SMART Domains Protein: ENSMUSP00000109138
Gene: ENSMUSG00000073643

DomainStartEndE-ValueType
WD40 13 52 4.95e-4 SMART
WD40 56 96 5.5e1 SMART
WD40 103 142 1.19e0 SMART
Blast:WD40 145 163 2e-6 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000113511
SMART Domains Protein: ENSMUSP00000109139
Gene: ENSMUSG00000073643

DomainStartEndE-ValueType
WD40 13 52 4.95e-4 SMART
WD40 56 96 5.5e1 SMART
WD40 103 142 1.19e0 SMART
Blast:WD40 145 163 2e-6 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000113512
AA Change: S219P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109140
Gene: ENSMUSG00000073643
AA Change: S219P

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000113513
AA Change: S219P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109141
Gene: ENSMUSG00000073643
AA Change: S219P

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000113514
AA Change: S219P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109142
Gene: ENSMUSG00000073643
AA Change: S219P

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000113515
AA Change: S219P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109143
Gene: ENSMUSG00000073643
AA Change: S219P

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000127771
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130714
Predicted Effect probably benign
Transcript: ENSMUST00000187005
SMART Domains Protein: ENSMUSP00000139961
Gene: ENSMUSG00000073643

DomainStartEndE-ValueType
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef37 C T 18: 61,499,768 V533M probably damaging Het
Bicd2 A G 13: 49,379,189 D343G possibly damaging Het
Ccl26 C T 5: 135,563,339 S48N possibly damaging Het
Cdkn1b A T 6: 134,921,007 R30* probably null Het
Cds1 G T 5: 101,814,472 V318L probably benign Het
Ceacam11 A G 7: 17,973,623 S111G probably benign Het
Cntn1 A C 15: 92,291,703 I636L possibly damaging Het
Cog2 G A 8: 124,542,888 probably null Het
Cyp2g1 G A 7: 26,814,294 probably benign Het
Ddx54 T C 5: 120,625,718 V644A possibly damaging Het
Dnah1 T C 14: 31,268,786 Q3192R probably damaging Het
Dyrk2 T G 10: 118,860,543 H270P probably damaging Het
Ephb6 A G 6: 41,613,322 T3A probably benign Het
Fam120a G A 13: 48,933,945 probably benign Het
Fam184a A G 10: 53,697,120 probably benign Het
Fmo1 A G 1: 162,850,060 probably null Het
Gaa A G 11: 119,284,195 Y874C possibly damaging Het
Gabrr1 T A 4: 33,152,567 I169N probably damaging Het
Gm13083 A C 4: 143,615,073 D24A probably benign Het
Gm13734 T C 2: 87,136,321 probably null Het
Gnb1 T C 4: 155,533,691 probably benign Het
Hecw2 G T 1: 53,926,511 F385L probably benign Het
Kif5a C T 10: 127,243,499 V277M probably damaging Het
Mogat2 A T 7: 99,238,564 M1K probably null Het
Mrgprx2 A T 7: 48,482,294 W259R possibly damaging Het
Nf1 T C 11: 79,412,727 L410S probably damaging Het
Ntn4 T G 10: 93,707,349 N312K probably damaging Het
Papss2 T C 19: 32,660,583 V365A possibly damaging Het
Pde4c A G 8: 70,748,413 N420S probably damaging Het
Plec C T 15: 76,180,341 R1911H probably damaging Het
Rnf19b A G 4: 129,071,820 H237R probably damaging Het
Slfn4 T C 11: 83,186,974 L196P possibly damaging Het
Steap2 G T 5: 5,673,586 F431L probably damaging Het
Tex15 A G 8: 33,582,465 E2680G probably benign Het
Tmprss15 A T 16: 79,087,506 I96N probably damaging Het
Trim34a T G 7: 104,247,831 V34G probably benign Het
Ttyh1 A G 7: 4,130,574 probably benign Het
Usp29 A C 7: 6,962,526 H456P probably benign Het
Zfp738 A T 13: 67,671,481 S117R possibly damaging Het
Other mutations in Wdfy1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Posted On2014-05-07