Incidental Mutation 'R1770:Wdfy1'
ID 196461
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 039801-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R1770 (G1)
Quality Score 112
Status Validated
Chromosome 1
Chromosomal Location 79679979-79753764 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 79686857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 296 (W296R)
Ref Sequence ENSEMBL: ENSMUSP00000109143 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113512] [ENSMUST00000113513] [ENSMUST00000113514] [ENSMUST00000113515] [ENSMUST00000187005]
AlphaFold E9Q4P1
Predicted Effect probably damaging
Transcript: ENSMUST00000113512
AA Change: W296R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109140
Gene: ENSMUSG00000073643
AA Change: W296R

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: W296R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109141
Gene: ENSMUSG00000073643
AA Change: W296R

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: W296R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109142
Gene: ENSMUSG00000073643
AA Change: W296R

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: W296R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109143
Gene: ENSMUSG00000073643
AA Change: W296R

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 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
Meta Mutation Damage Score 0.8334 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.8%
Validation Efficiency 92% (69/75)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 T C 12: 84,661,874 (GRCm39) T84A probably benign Het
Adgra1 T A 7: 139,453,947 (GRCm39) Y161* probably null Het
Aldoart1 G T 4: 72,770,173 (GRCm39) H212N probably benign Het
Aldob A G 4: 49,536,861 (GRCm39) Y343H probably damaging Het
Ankrd17 A T 5: 90,391,235 (GRCm39) V2036E possibly damaging Het
Ass1 A G 2: 31,376,528 (GRCm39) T131A probably benign Het
Baz1a C T 12: 54,945,293 (GRCm39) R1354H probably damaging Het
C2cd2l A G 9: 44,228,108 (GRCm39) V71A probably benign Het
C4b T A 17: 34,955,901 (GRCm39) N678I possibly damaging Het
Carmil1 A G 13: 24,357,657 (GRCm39) L64P probably damaging Het
Cdh18 T C 15: 23,474,487 (GRCm39) S786P probably benign Het
Cep135 A G 5: 76,751,042 (GRCm39) E296G possibly damaging Het
Chml G A 1: 175,515,444 (GRCm39) T159I probably benign Het
Cntn3 C T 6: 102,246,166 (GRCm39) E328K possibly damaging Het
Cstf1 A G 2: 172,214,983 (GRCm39) I35V possibly damaging Het
Cyp2c65 A G 19: 39,070,642 (GRCm39) K275R probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dbx2 T C 15: 95,522,615 (GRCm39) E364G probably benign Het
Dcaf13 A T 15: 38,993,633 (GRCm39) N242I probably damaging Het
Dcc A G 18: 71,579,470 (GRCm39) V701A probably benign Het
Elapor2 A T 5: 9,468,021 (GRCm39) T230S probably benign Het
Fastkd5 A T 2: 130,456,200 (GRCm39) Y797N probably damaging Het
Fat4 T A 3: 39,064,417 (GRCm39) I4791K probably damaging Het
Gm3852 T C 1: 46,051,048 (GRCm39) I45V possibly damaging Het
Gng4 A G 13: 13,999,851 (GRCm39) D40G probably damaging Het
Gns A G 10: 121,213,952 (GRCm39) D209G probably benign Het
Kif6 C A 17: 50,210,677 (GRCm39) Q791K possibly damaging Het
Klhl35 G A 7: 99,123,082 (GRCm39) V569M possibly damaging Het
Krt1c A G 15: 101,719,589 (GRCm39) S694P unknown Het
Lrrc8c A G 5: 105,754,603 (GRCm39) Y126C probably damaging Het
Mad2l1bp A G 17: 46,463,838 (GRCm39) V62A probably benign Het
Map1b T C 13: 99,567,001 (GRCm39) R1907G unknown Het
Mertk A G 2: 128,592,094 (GRCm39) I273V probably benign Het
Mfsd4b1 A G 10: 39,879,223 (GRCm39) Y225H probably damaging Het
Mrc2 T C 11: 105,229,619 (GRCm39) V684A probably damaging Het
Msh6 G A 17: 88,287,651 (GRCm39) W97* probably null Het
Mtmr10 A G 7: 63,986,469 (GRCm39) I516V possibly damaging Het
Myo7a A T 7: 97,761,813 (GRCm39) probably benign Het
Ndufs5 T C 4: 123,606,661 (GRCm39) Y92C probably benign Het
Nlrp1b C T 11: 71,050,979 (GRCm39) V1035I probably benign Het
Ntrk2 A G 13: 59,009,132 (GRCm39) R308G possibly damaging Het
Or12e13 A G 2: 87,663,643 (GRCm39) I87V probably benign Het
Pcdhb16 G T 18: 37,612,233 (GRCm39) G398W probably damaging Het
Plpbp T A 8: 27,543,326 (GRCm39) S237T probably damaging Het
Pnpla6 T A 8: 3,584,634 (GRCm39) F769I possibly damaging Het
Polk A G 13: 96,631,950 (GRCm39) V261A probably damaging Het
Prss52 C T 14: 64,351,082 (GRCm39) A289V probably damaging Het
Puf60 T C 15: 75,942,723 (GRCm39) K407E probably benign Het
Pzp T C 6: 128,462,580 (GRCm39) D1455G probably damaging Het
Ranbp17 T C 11: 33,167,301 (GRCm39) N1054S probably benign Het
Sdk2 A G 11: 113,684,567 (GRCm39) S1965P probably benign Het
Spryd7 T C 14: 61,777,654 (GRCm39) Y142C probably damaging Het
Srrt A T 5: 137,298,122 (GRCm39) probably benign Het
Stk10 A G 11: 32,572,464 (GRCm39) E935G possibly damaging Het
Tas2r115 G A 6: 132,714,934 (GRCm39) R6C probably damaging Het
Tdrd7 T A 4: 45,987,681 (GRCm39) probably benign Het
Trim29 A T 9: 43,243,673 (GRCm39) Q564L probably damaging Het
Trim5 T C 7: 103,925,868 (GRCm39) D231G probably damaging Het
Trpv2 A G 11: 62,487,787 (GRCm39) K676E probably benign Het
Ttn T C 2: 76,583,859 (GRCm39) R22383G probably damaging Het
Ugt1a2 A G 1: 88,129,160 (GRCm39) I268V probably benign Het
Ugt8a T C 3: 125,667,852 (GRCm39) N330D probably benign Het
Utrn G A 10: 12,351,040 (GRCm39) H2822Y probably damaging Het
Vmn1r176 G A 7: 23,534,946 (GRCm39) A69V probably benign Het
Vmn2r106 T C 17: 20,488,560 (GRCm39) Y613C probably damaging Het
Zfp11 G A 5: 129,734,822 (GRCm39) T213I possibly damaging Het
Zfp142 A T 1: 74,618,790 (GRCm39) F193I probably damaging Het
Zfp764 G A 7: 127,004,739 (GRCm39) Q131* probably null Het
Other mutations in Wdfy1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R4431:Wdfy1 UTSW 1 79,691,583 (GRCm39) nonsense probably null
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'- TTGGTCATGCTCACTGTCAGTCAC -3'
(R):5'- AGTCACTTAGAAGCACACACGGATG -3'

Sequencing Primer
(F):5'- tcacctgcctctgcctc -3'
(R):5'- ggagcattgctaaaagtttcagg -3'
Posted On 2014-05-23