Incidental Mutation 'ANU05:Zfyve1'
ID 262506
Institutional Source Beutler Lab
Gene Symbol Zfyve1
Ensembl Gene ENSMUSG00000042628
Gene Name zinc finger, FYVE domain containing 1
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # ANU05
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 83593332-83643996 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 83601779 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 110 (F110I)
Ref Sequence ENSEMBL: ENSMUSP00000152864 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048319] [ENSMUST00000221919] [ENSMUST00000222448]
AlphaFold Q810J8
Predicted Effect probably benign
Transcript: ENSMUST00000048319
AA Change: F525I

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000042224
Gene: ENSMUSG00000042628
AA Change: F525I

DomainStartEndE-ValueType
low complexity region 429 436 N/A INTRINSIC
FYVE 590 660 8.36e-13 SMART
FYVE 707 776 1.15e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221228
Predicted Effect probably benign
Transcript: ENSMUST00000221919
AA Change: F525I

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
Predicted Effect probably benign
Transcript: ENSMUST00000222448
AA Change: F110I

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The FYVE domain mediates the recruitment of proteins involved in membrane trafficking and cell signaling to phosphatidylinositol 3-phosphate-containing membranes. This protein contains two zinc-binding FYVE domains in tandem and is reported to localize to the Golgi apparatus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Acaca A G 11: 84,206,678 (GRCm39) K1513E probably damaging Het
Acacb T A 5: 114,363,931 (GRCm39) F1464Y probably benign Het
Adgrg6 G A 10: 14,286,274 (GRCm39) A1114V possibly damaging Het
Agl A G 3: 116,566,438 (GRCm39) I975T possibly damaging Het
Akap7 T C 10: 25,147,451 (GRCm39) H93R probably damaging Het
Arhgef11 T C 3: 87,640,481 (GRCm39) W1213R probably benign Het
Ccar1 T A 10: 62,592,428 (GRCm39) E708V probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cilp T C 9: 65,186,265 (GRCm39) S787P possibly damaging Het
Col6a3 G A 1: 90,730,014 (GRCm39) T1157I probably damaging Het
D630003M21Rik T C 2: 158,038,308 (GRCm39) Y1046C probably benign Het
Dock3 A G 9: 106,772,862 (GRCm39) S464P probably benign Het
Dusp19 A G 2: 80,454,618 (GRCm39) T113A probably benign Het
Dync1h1 A C 12: 110,615,538 (GRCm39) Y2957S probably benign Het
Epdr1 T C 13: 19,778,814 (GRCm39) Y94C probably damaging Het
Fcho1 A T 8: 72,165,191 (GRCm39) L422Q probably benign Het
Gca T A 2: 62,520,787 (GRCm39) Y210* probably null Het
Gpnmb T C 6: 49,032,615 (GRCm39) V513A probably benign Het
Irx4 A G 13: 73,415,786 (GRCm39) T192A probably damaging Het
Isca1 T C 13: 59,906,785 (GRCm39) T54A probably benign Het
Kif12 GGGGC GGGGCCTCCACCCGGCGGGC 4: 63,089,660 (GRCm39) probably benign Het
L3mbtl1 T C 2: 162,812,100 (GRCm39) V715A probably benign Het
Lama1 G A 17: 68,045,865 (GRCm39) D257N probably damaging Het
Lgr5 T C 10: 115,314,439 (GRCm39) H166R probably damaging Het
M6pr A G 6: 122,289,218 (GRCm39) R9G probably benign Het
Nmt2 T G 2: 3,315,731 (GRCm39) S240R probably benign Het
Npas3 A G 12: 54,114,857 (GRCm39) E593G possibly damaging Het
Or8k30 G A 2: 86,339,513 (GRCm39) A237T possibly damaging Het
Pank4 T C 4: 155,059,103 (GRCm39) M412T probably damaging Het
Psd A G 19: 46,303,186 (GRCm39) V100A possibly damaging Het
Rab11fip3 T C 17: 26,235,087 (GRCm39) T28A probably damaging Het
Rnpepl1 A T 1: 92,847,468 (GRCm39) D685V probably benign Het
Rrad T C 8: 105,357,283 (GRCm39) E88G probably benign Het
Sdk2 T A 11: 113,733,906 (GRCm39) M846L probably benign Het
Sparcl1 A T 5: 104,242,581 (GRCm39) V36E possibly damaging Het
Spmip5 A T 19: 58,777,545 (GRCm39) H80Q probably damaging Het
Srrm4 C T 5: 116,605,628 (GRCm39) E210K unknown Het
Stk25 A T 1: 93,551,145 (GRCm39) probably null Het
Tacr3 A T 3: 134,635,810 (GRCm39) Y338F probably damaging Het
Tap2 A T 17: 34,428,184 (GRCm39) Q286L probably benign Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tubgcp5 C A 7: 55,458,277 (GRCm39) A396E possibly damaging Het
Ube2o T C 11: 116,430,960 (GRCm39) D980G probably damaging Het
Vmn1r86 T C 7: 12,836,433 (GRCm39) M98V probably benign Het
Vmn2r58 T A 7: 41,513,935 (GRCm39) H236L probably benign Het
Zfp521 T C 18: 13,950,303 (GRCm39) H1217R probably damaging Het
Other mutations in Zfyve1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Zfyve1 APN 12 83,621,572 (GRCm39) missense probably benign 0.09
IGL00475:Zfyve1 APN 12 83,602,485 (GRCm39) critical splice acceptor site probably null
IGL01291:Zfyve1 APN 12 83,601,779 (GRCm39) missense probably benign 0.04
IGL01380:Zfyve1 APN 12 83,599,281 (GRCm39) missense probably damaging 1.00
IGL02037:Zfyve1 APN 12 83,594,694 (GRCm39) missense probably damaging 1.00
IGL02184:Zfyve1 APN 12 83,605,467 (GRCm39) missense probably benign 0.29
IGL02619:Zfyve1 APN 12 83,597,718 (GRCm39) unclassified probably benign
IGL03031:Zfyve1 APN 12 83,621,595 (GRCm39) missense probably damaging 0.99
IGL03105:Zfyve1 APN 12 83,605,413 (GRCm39) missense probably damaging 1.00
sasso UTSW 12 83,621,830 (GRCm39) missense probably damaging 1.00
R0123:Zfyve1 UTSW 12 83,601,847 (GRCm39) splice site probably benign
R0225:Zfyve1 UTSW 12 83,601,847 (GRCm39) splice site probably benign
R0468:Zfyve1 UTSW 12 83,602,048 (GRCm39) splice site probably benign
R1218:Zfyve1 UTSW 12 83,594,825 (GRCm39) missense possibly damaging 0.79
R1896:Zfyve1 UTSW 12 83,602,388 (GRCm39) missense probably damaging 0.99
R2291:Zfyve1 UTSW 12 83,594,705 (GRCm39) missense probably damaging 0.99
R4023:Zfyve1 UTSW 12 83,641,296 (GRCm39) missense probably benign
R4026:Zfyve1 UTSW 12 83,641,296 (GRCm39) missense probably benign
R4209:Zfyve1 UTSW 12 83,621,909 (GRCm39) missense probably damaging 1.00
R4211:Zfyve1 UTSW 12 83,621,909 (GRCm39) missense probably damaging 1.00
R4780:Zfyve1 UTSW 12 83,605,421 (GRCm39) missense probably damaging 1.00
R4907:Zfyve1 UTSW 12 83,621,646 (GRCm39) missense probably damaging 0.96
R4908:Zfyve1 UTSW 12 83,598,345 (GRCm39) missense probably damaging 1.00
R4998:Zfyve1 UTSW 12 83,594,839 (GRCm39) missense possibly damaging 0.69
R5076:Zfyve1 UTSW 12 83,602,421 (GRCm39) missense probably damaging 1.00
R5303:Zfyve1 UTSW 12 83,621,830 (GRCm39) missense probably damaging 1.00
R5628:Zfyve1 UTSW 12 83,621,663 (GRCm39) missense probably benign 0.00
R5739:Zfyve1 UTSW 12 83,621,910 (GRCm39) missense possibly damaging 0.61
R6007:Zfyve1 UTSW 12 83,605,478 (GRCm39) missense probably damaging 1.00
R6355:Zfyve1 UTSW 12 83,641,415 (GRCm39) missense probably benign 0.01
R6641:Zfyve1 UTSW 12 83,641,270 (GRCm39) missense probably benign
R6735:Zfyve1 UTSW 12 83,641,618 (GRCm39) missense possibly damaging 0.90
R7222:Zfyve1 UTSW 12 83,601,779 (GRCm39) missense probably benign
R7278:Zfyve1 UTSW 12 83,598,314 (GRCm39) missense probably damaging 1.00
R7464:Zfyve1 UTSW 12 83,598,261 (GRCm39) missense probably benign 0.00
R8690:Zfyve1 UTSW 12 83,597,681 (GRCm39) missense probably damaging 1.00
R8857:Zfyve1 UTSW 12 83,598,374 (GRCm39) missense probably damaging 1.00
R8948:Zfyve1 UTSW 12 83,594,802 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AATGGGCTCTACAGATCCTGTCTCC -3'
(R):5'- AAGTCAGCGTGGTGCCCAAAAC -3'

Sequencing Primer
(F):5'- CTACAGATCCTGTCTCCCTAAAC -3'
(R):5'- GTGGTGCCCAAAACATCTG -3'
Posted On 2015-02-04