Incidental Mutation 'R1592:Wdfy1'
ID 175653
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 039629-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R1592 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 79679979-79753764 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 79683972 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 388 (R388C)
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: R388C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109140
Gene: ENSMUSG00000073643
AA Change: R388C

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: R388C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109141
Gene: ENSMUSG00000073643
AA Change: R388C

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: R388C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109142
Gene: ENSMUSG00000073643
AA Change: R388C

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: R388C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109143
Gene: ENSMUSG00000073643
AA Change: R388C

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 0.6326 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.9%
Validation Efficiency 100% (51/51)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 T C 5: 121,783,444 (GRCm39) E327G probably damaging Het
Acp5 A T 9: 22,039,147 (GRCm39) W189R probably damaging Het
Adamts8 T C 9: 30,854,472 (GRCm39) S114P probably damaging Het
Alkbh3 A C 2: 93,838,769 (GRCm39) probably null Het
Ankrd13d T C 19: 4,332,919 (GRCm39) H27R probably benign Het
Aox1 A G 1: 58,339,853 (GRCm39) N382S probably benign Het
Aspg G A 12: 112,086,406 (GRCm39) R220Q probably benign Het
Atg16l2 C A 7: 100,941,193 (GRCm39) G403V probably damaging Het
Bcat1 G T 6: 144,955,784 (GRCm39) Q299K probably benign Het
Cc2d1b C T 4: 108,483,868 (GRCm39) probably benign Het
Cdh26 T C 2: 178,091,684 (GRCm39) F81S probably damaging Het
Cnbd2 A G 2: 156,177,322 (GRCm39) I222M probably benign Het
Ephb3 T C 16: 21,040,450 (GRCm39) V562A probably damaging Het
Fam186a T C 15: 99,838,199 (GRCm39) T2682A probably benign Het
Fat2 T C 11: 55,182,696 (GRCm39) probably null Het
Fat4 A T 3: 39,061,326 (GRCm39) D4303V probably damaging Het
Fbln1 T A 15: 85,115,665 (GRCm39) S234T probably benign Het
Gldc G A 19: 30,138,077 (GRCm39) probably benign Het
Gli1 A C 10: 127,167,198 (GRCm39) V685G probably damaging Het
H2-T22 T C 17: 36,352,469 (GRCm39) N152S probably damaging Het
Inpp5d A T 1: 87,593,254 (GRCm39) D118V possibly damaging Het
Ints10 A G 8: 69,255,555 (GRCm39) I182V possibly damaging Het
Ipcef1 C T 10: 6,885,182 (GRCm39) probably null Het
Kcnj3 G T 2: 55,327,898 (GRCm39) R229L probably damaging Het
Klf11 C A 12: 24,703,737 (GRCm39) D57E probably damaging Het
Krt73 G T 15: 101,710,674 (GRCm39) S20* probably null Het
Lactbl1 A G 4: 136,363,187 (GRCm39) probably null Het
Mapk10 T C 5: 103,186,487 (GRCm39) D45G possibly damaging Het
Mfrp G A 9: 44,014,519 (GRCm39) C222Y probably damaging Het
Mga A T 2: 119,795,147 (GRCm39) I2944F possibly damaging Het
Msh2 A G 17: 87,987,441 (GRCm39) probably null Het
Nckap1l T A 15: 103,390,607 (GRCm39) probably null Het
Or5m9 A G 2: 85,877,333 (GRCm39) N169S probably benign Het
Pitpnm1 T A 19: 4,156,964 (GRCm39) probably null Het
Sik2 C T 9: 50,906,971 (GRCm39) V85I probably damaging Het
Slc26a7 T A 4: 14,552,470 (GRCm39) E229V probably benign Het
Spty2d1 A T 7: 46,648,637 (GRCm39) D97E possibly damaging Het
Tcaim G A 9: 122,647,838 (GRCm39) probably null Het
Tdrd3 T A 14: 87,743,322 (GRCm39) N417K probably damaging Het
Uggt1 C A 1: 36,241,939 (GRCm39) A332S probably benign Het
Usp53 A T 3: 122,727,699 (GRCm39) L961* probably null Het
Vmn1r223 A T 13: 23,433,837 (GRCm39) T144S possibly damaging Het
Zfp995 T A 17: 22,106,321 (GRCm39) M1L probably damaging 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
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
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'- AGTCCCCATCAGGGTTAGGAAATCAC -3'
(R):5'- GGACCAAAGCCTCTACGGTTGAAAC -3'

Sequencing Primer
(F):5'- GGTTAGGAAATCACAAATACCTGCTC -3'
(R):5'- GTGTGTAAGCCATCTACATTGC -3'
Posted On 2014-04-24