Incidental Mutation 'R6247:Zfyve26'
ID 505718
Institutional Source Beutler Lab
Gene Symbol Zfyve26
Ensembl Gene ENSMUSG00000066440
Gene Name zinc finger, FYVE domain containing 26
Synonyms A630028O16Rik, 9330197E15Rik, LOC380767
MMRRC Submission 044366-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6247 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 79279120-79343078 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79329758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 476 (V476A)
Ref Sequence ENSEMBL: ENSMUSP00000151280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021547] [ENSMUST00000218377]
AlphaFold Q5DU37
Predicted Effect probably benign
Transcript: ENSMUST00000021547
AA Change: V476A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000021547
Gene: ENSMUSG00000066440
AA Change: V476A

DomainStartEndE-ValueType
low complexity region 8 24 N/A INTRINSIC
low complexity region 233 244 N/A INTRINSIC
low complexity region 752 775 N/A INTRINSIC
low complexity region 778 796 N/A INTRINSIC
low complexity region 982 1001 N/A INTRINSIC
low complexity region 1073 1091 N/A INTRINSIC
low complexity region 1104 1115 N/A INTRINSIC
low complexity region 1151 1163 N/A INTRINSIC
low complexity region 1177 1192 N/A INTRINSIC
low complexity region 1228 1241 N/A INTRINSIC
low complexity region 1565 1584 N/A INTRINSIC
low complexity region 1743 1770 N/A INTRINSIC
FYVE 1794 1863 1.49e-27 SMART
low complexity region 2486 2498 N/A INTRINSIC
low complexity region 2517 2528 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000218377
AA Change: V476A

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219842
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which contains a FYVE zinc finger binding domain. The presence of this domain is thought to target these proteins to membrane lipids through interaction with phospholipids in the membrane. Mutations in this gene are associated with autosomal recessive spastic paraplegia-15. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygoys for a null allele display a late-onset spastic gait disorder with cerebellar ataxia, axon degeneration, and progressive loss of cortical motoneurons and Purkinje cells preceded by accumulation of autofluorescent, electron-dense, membrane-enclosed material in lysosomal structures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,049,768 (GRCm39) D871G probably benign Het
A4galt G T 15: 83,112,020 (GRCm39) H254Q probably damaging Het
AA986860 C A 1: 130,670,780 (GRCm39) T334K possibly damaging Het
Abca13 T C 11: 9,353,874 (GRCm39) I3732T probably benign Het
Abcf1 C T 17: 36,271,956 (GRCm39) D353N probably damaging Het
Adss1 A G 12: 112,594,790 (GRCm39) H83R probably damaging Het
Amer2 C A 14: 60,616,321 (GRCm39) A172E probably damaging Het
Ankhd1 A G 18: 36,787,199 (GRCm39) T2300A probably benign Het
Ano5 G A 7: 51,215,879 (GRCm39) probably null Het
Apob G A 12: 8,051,801 (GRCm39) G1109D probably damaging Het
Arhgef26 A T 3: 62,288,381 (GRCm39) N484Y probably damaging Het
C6 A G 15: 4,793,023 (GRCm39) D376G probably damaging Het
Caml T C 13: 55,772,986 (GRCm39) probably null Het
Capn12 T C 7: 28,588,077 (GRCm39) L473S probably benign Het
Cdk6 G A 5: 3,394,553 (GRCm39) probably null Het
Cers5 A T 15: 99,643,805 (GRCm39) C153S probably benign Het
Cfap206 T C 4: 34,692,530 (GRCm39) M499V probably benign Het
Chd6 A G 2: 160,791,968 (GRCm39) M2463T probably damaging Het
Chn1 T C 2: 73,537,350 (GRCm39) E58G possibly damaging Het
Clec4a1 T C 6: 122,905,001 (GRCm39) V100A probably benign Het
Col7a1 G C 9: 108,810,130 (GRCm39) probably benign Het
Csmd1 A G 8: 16,246,249 (GRCm39) V1050A possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dennd5a A T 7: 109,497,889 (GRCm39) C1044S probably damaging Het
Dnah7b A G 1: 46,265,048 (GRCm39) T2181A probably benign Het
Dnai1 T C 4: 41,605,775 (GRCm39) V255A probably benign Het
Dync2h1 A G 9: 7,135,078 (GRCm39) C1518R probably damaging Het
Dysf T C 6: 84,043,981 (GRCm39) V273A probably damaging Het
Eif1 C T 11: 100,211,223 (GRCm39) probably benign Het
Eml3 T C 19: 8,908,313 (GRCm39) I58T probably benign Het
Fam171b T A 2: 83,709,552 (GRCm39) I408N probably damaging Het
Fchsd2 A G 7: 100,902,747 (GRCm39) E351G probably benign Het
Focad G A 4: 88,325,377 (GRCm39) A81T possibly damaging Het
Fpr-rs4 G A 17: 18,242,748 (GRCm39) V252I probably benign Het
Fryl A G 5: 73,222,824 (GRCm39) L1919P probably damaging Het
Gm12185 C T 11: 48,806,735 (GRCm39) R152H probably damaging Het
Gm14410 C T 2: 176,885,517 (GRCm39) G249E probably damaging Het
Gm6685 A T 11: 28,289,706 (GRCm39) S37T possibly damaging Het
Greb1 G A 12: 16,766,676 (GRCm39) P374L probably damaging Het
Hdac4 A T 1: 91,940,560 (GRCm39) probably null Het
Hecw1 A T 13: 14,409,010 (GRCm39) L1099* probably null Het
Hivep1 T C 13: 42,310,966 (GRCm39) S1069P probably benign Het
Itgad T C 7: 127,784,959 (GRCm39) I288T possibly damaging Het
Kif9 A G 9: 110,317,612 (GRCm39) M96V possibly damaging Het
Kncn T A 4: 115,741,987 (GRCm39) V18E probably damaging Het
Lrrc74a G A 12: 86,805,330 (GRCm39) G384D probably damaging Het
Ltb4r2 T C 14: 56,000,108 (GRCm39) V243A probably damaging Het
Mtnr1b T A 9: 15,774,082 (GRCm39) I326L probably benign Het
Mylip C T 13: 45,561,957 (GRCm39) T253I probably damaging Het
Necap1 T A 6: 122,857,611 (GRCm39) probably null Het
Nedd4 C T 9: 72,633,720 (GRCm39) P409S probably damaging Het
Npat A T 9: 53,456,538 (GRCm39) E36D probably damaging Het
Ovch2 C T 7: 107,384,648 (GRCm39) V490M probably damaging Het
Pax9 T C 12: 56,756,480 (GRCm39) S273P probably benign Het
Plce1 A G 19: 38,734,289 (GRCm39) E1563G probably damaging Het
Podxl2 C A 6: 88,826,299 (GRCm39) G336* probably null Het
Prdm1 A G 10: 44,322,782 (GRCm39) probably null Het
Psme4 T C 11: 30,803,245 (GRCm39) I29T possibly damaging Het
Ptprd A T 4: 75,984,528 (GRCm39) D780E probably benign Het
Retsat T C 6: 72,581,918 (GRCm39) M294T probably benign Het
Robo2 A T 16: 73,764,672 (GRCm39) V652D probably damaging Het
Rptn C G 3: 93,305,437 (GRCm39) H923Q possibly damaging Het
Serpinb3d G T 1: 107,010,490 (GRCm39) T66K probably benign Het
Setd1b A T 5: 123,296,461 (GRCm39) probably benign Het
Slc7a10 G T 7: 34,886,012 (GRCm39) A36S possibly damaging Het
Sstr3 T A 15: 78,423,788 (GRCm39) I320F probably damaging Het
Syne1 G T 10: 5,299,071 (GRCm39) A1005E probably damaging Het
Syngap1 C A 17: 27,181,931 (GRCm39) S975* probably null Het
Tinagl1 C T 4: 130,066,725 (GRCm39) C124Y probably null Het
Tm9sf1 C T 14: 55,873,827 (GRCm39) R557H probably damaging Het
Tmed2 T A 5: 124,685,055 (GRCm39) I68K possibly damaging Het
Tmem104 A G 11: 115,134,819 (GRCm39) T451A probably benign Het
Tmem141 T C 2: 25,511,693 (GRCm39) probably null Het
Tmem184a C A 5: 139,798,827 (GRCm39) V41L probably benign Het
Tmem39b C T 4: 129,580,584 (GRCm39) V303I possibly damaging Het
Tsn T C 1: 118,232,939 (GRCm39) I122V probably benign Het
Ttc41 G T 10: 86,612,527 (GRCm39) V1267L probably benign Het
Uggt1 A T 1: 36,202,309 (GRCm39) L1096Q probably damaging Het
Usp50 A T 2: 126,617,713 (GRCm39) I244N probably benign Het
Vil1 A G 1: 74,471,498 (GRCm39) S760G probably benign Het
Wasf1 T A 10: 40,813,741 (GRCm39) V541E unknown Het
Zc3h13 G T 14: 75,581,176 (GRCm39) S1721I probably benign Het
Zfp180 G T 7: 23,804,530 (GRCm39) K316N probably damaging Het
Zfp582 T C 7: 6,356,945 (GRCm39) C253R probably damaging Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Zfp759 A G 13: 67,288,524 (GRCm39) T692A probably benign Het
Other mutations in Zfyve26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Zfyve26 APN 12 79,296,234 (GRCm39) unclassified probably benign
IGL00940:Zfyve26 APN 12 79,327,674 (GRCm39) missense probably benign
IGL01148:Zfyve26 APN 12 79,307,644 (GRCm39) missense probably benign 0.01
IGL01347:Zfyve26 APN 12 79,298,957 (GRCm39) splice site probably null
IGL01472:Zfyve26 APN 12 79,323,117 (GRCm39) missense probably benign 0.01
IGL01490:Zfyve26 APN 12 79,291,147 (GRCm39) missense probably damaging 1.00
IGL01516:Zfyve26 APN 12 79,334,625 (GRCm39) missense probably benign 0.37
IGL01642:Zfyve26 APN 12 79,308,348 (GRCm39) splice site probably null
IGL01689:Zfyve26 APN 12 79,330,827 (GRCm39) missense possibly damaging 0.71
IGL01877:Zfyve26 APN 12 79,334,218 (GRCm39) missense probably damaging 1.00
IGL01997:Zfyve26 APN 12 79,291,174 (GRCm39) missense probably benign 0.00
IGL02077:Zfyve26 APN 12 79,323,169 (GRCm39) missense possibly damaging 0.54
IGL02437:Zfyve26 APN 12 79,315,621 (GRCm39) missense probably benign 0.01
IGL02933:Zfyve26 APN 12 79,326,854 (GRCm39) missense possibly damaging 0.94
IGL02937:Zfyve26 APN 12 79,285,794 (GRCm39) missense probably benign 0.08
IGL02982:Zfyve26 APN 12 79,310,644 (GRCm39) missense probably damaging 0.99
IGL03064:Zfyve26 APN 12 79,308,565 (GRCm39) missense probably damaging 1.00
IGL03086:Zfyve26 APN 12 79,342,338 (GRCm39) missense probably damaging 0.96
IGL03146:Zfyve26 APN 12 79,330,846 (GRCm39) nonsense probably null
challenge UTSW 12 79,317,610 (GRCm39) critical splice donor site probably null
fourteener UTSW 12 79,302,037 (GRCm39) missense probably damaging 1.00
IGL02799:Zfyve26 UTSW 12 79,320,084 (GRCm39) missense probably benign 0.28
R0318:Zfyve26 UTSW 12 79,323,055 (GRCm39) missense probably damaging 1.00
R0513:Zfyve26 UTSW 12 79,291,258 (GRCm39) missense probably damaging 1.00
R0582:Zfyve26 UTSW 12 79,292,996 (GRCm39) missense probably damaging 1.00
R0586:Zfyve26 UTSW 12 79,315,502 (GRCm39) missense possibly damaging 0.96
R0718:Zfyve26 UTSW 12 79,312,576 (GRCm39) splice site probably benign
R0738:Zfyve26 UTSW 12 79,342,308 (GRCm39) missense probably damaging 1.00
R0781:Zfyve26 UTSW 12 79,326,841 (GRCm39) missense probably damaging 0.99
R0894:Zfyve26 UTSW 12 79,320,372 (GRCm39) missense possibly damaging 0.80
R1109:Zfyve26 UTSW 12 79,318,901 (GRCm39) missense probably damaging 1.00
R1110:Zfyve26 UTSW 12 79,326,841 (GRCm39) missense probably damaging 0.99
R1186:Zfyve26 UTSW 12 79,310,723 (GRCm39) missense probably damaging 1.00
R1295:Zfyve26 UTSW 12 79,321,694 (GRCm39) missense probably damaging 1.00
R1430:Zfyve26 UTSW 12 79,329,591 (GRCm39) missense probably benign 0.07
R1439:Zfyve26 UTSW 12 79,298,937 (GRCm39) missense probably benign 0.03
R1517:Zfyve26 UTSW 12 79,298,925 (GRCm39) missense probably damaging 0.98
R1553:Zfyve26 UTSW 12 79,334,535 (GRCm39) missense probably benign 0.00
R1721:Zfyve26 UTSW 12 79,308,573 (GRCm39) missense possibly damaging 0.94
R1758:Zfyve26 UTSW 12 79,285,718 (GRCm39) missense probably damaging 1.00
R1779:Zfyve26 UTSW 12 79,325,237 (GRCm39) missense probably damaging 1.00
R1785:Zfyve26 UTSW 12 79,315,208 (GRCm39) missense possibly damaging 0.48
R1786:Zfyve26 UTSW 12 79,315,208 (GRCm39) missense possibly damaging 0.48
R1826:Zfyve26 UTSW 12 79,315,823 (GRCm39) missense probably damaging 1.00
R1833:Zfyve26 UTSW 12 79,333,032 (GRCm39) missense probably benign 0.36
R1868:Zfyve26 UTSW 12 79,308,573 (GRCm39) missense possibly damaging 0.94
R1900:Zfyve26 UTSW 12 79,311,125 (GRCm39) missense probably damaging 1.00
R1928:Zfyve26 UTSW 12 79,286,744 (GRCm39) nonsense probably null
R1982:Zfyve26 UTSW 12 79,302,017 (GRCm39) missense possibly damaging 0.55
R2062:Zfyve26 UTSW 12 79,330,806 (GRCm39) splice site probably null
R2071:Zfyve26 UTSW 12 79,334,220 (GRCm39) missense possibly damaging 0.95
R2130:Zfyve26 UTSW 12 79,315,208 (GRCm39) missense possibly damaging 0.48
R2132:Zfyve26 UTSW 12 79,315,208 (GRCm39) missense possibly damaging 0.48
R2133:Zfyve26 UTSW 12 79,315,208 (GRCm39) missense possibly damaging 0.48
R2135:Zfyve26 UTSW 12 79,292,826 (GRCm39) missense possibly damaging 0.80
R2207:Zfyve26 UTSW 12 79,292,861 (GRCm39) missense probably damaging 0.99
R2280:Zfyve26 UTSW 12 79,321,814 (GRCm39) missense probably damaging 1.00
R2352:Zfyve26 UTSW 12 79,330,890 (GRCm39) missense probably damaging 1.00
R2398:Zfyve26 UTSW 12 79,329,573 (GRCm39) splice site probably null
R3084:Zfyve26 UTSW 12 79,312,457 (GRCm39) splice site probably benign
R3086:Zfyve26 UTSW 12 79,312,457 (GRCm39) splice site probably benign
R4626:Zfyve26 UTSW 12 79,315,844 (GRCm39) missense possibly damaging 0.95
R4727:Zfyve26 UTSW 12 79,291,170 (GRCm39) missense probably benign 0.16
R4908:Zfyve26 UTSW 12 79,296,469 (GRCm39) splice site probably null
R4926:Zfyve26 UTSW 12 79,321,785 (GRCm39) missense probably benign
R4990:Zfyve26 UTSW 12 79,334,607 (GRCm39) missense probably damaging 1.00
R4999:Zfyve26 UTSW 12 79,327,159 (GRCm39) nonsense probably null
R5029:Zfyve26 UTSW 12 79,333,097 (GRCm39) missense probably damaging 0.99
R5070:Zfyve26 UTSW 12 79,302,135 (GRCm39) missense probably damaging 1.00
R5100:Zfyve26 UTSW 12 79,326,832 (GRCm39) nonsense probably null
R5252:Zfyve26 UTSW 12 79,315,756 (GRCm39) missense probably damaging 1.00
R5318:Zfyve26 UTSW 12 79,317,624 (GRCm39) missense probably benign 0.35
R5509:Zfyve26 UTSW 12 79,293,295 (GRCm39) missense probably damaging 1.00
R5574:Zfyve26 UTSW 12 79,286,698 (GRCm39) missense possibly damaging 0.63
R5735:Zfyve26 UTSW 12 79,320,147 (GRCm39) missense probably damaging 0.96
R5756:Zfyve26 UTSW 12 79,311,131 (GRCm39) missense probably damaging 1.00
R5773:Zfyve26 UTSW 12 79,334,511 (GRCm39) missense probably damaging 1.00
R5834:Zfyve26 UTSW 12 79,313,311 (GRCm39) missense probably benign 0.30
R6075:Zfyve26 UTSW 12 79,340,628 (GRCm39) missense possibly damaging 0.74
R6184:Zfyve26 UTSW 12 79,315,501 (GRCm39) missense probably damaging 0.98
R6235:Zfyve26 UTSW 12 79,296,373 (GRCm39) missense probably damaging 1.00
R6320:Zfyve26 UTSW 12 79,286,776 (GRCm39) missense probably damaging 0.97
R6548:Zfyve26 UTSW 12 79,285,109 (GRCm39) missense probably damaging 1.00
R6887:Zfyve26 UTSW 12 79,313,223 (GRCm39) missense probably damaging 1.00
R7133:Zfyve26 UTSW 12 79,330,926 (GRCm39) missense probably benign 0.06
R7152:Zfyve26 UTSW 12 79,325,888 (GRCm39) missense probably benign 0.42
R7165:Zfyve26 UTSW 12 79,327,179 (GRCm39) missense probably damaging 1.00
R7181:Zfyve26 UTSW 12 79,315,182 (GRCm39) missense probably benign 0.00
R7223:Zfyve26 UTSW 12 79,292,945 (GRCm39) missense probably damaging 0.99
R7296:Zfyve26 UTSW 12 79,325,146 (GRCm39) splice site probably null
R7299:Zfyve26 UTSW 12 79,329,758 (GRCm39) missense probably benign 0.01
R7301:Zfyve26 UTSW 12 79,329,758 (GRCm39) missense probably benign 0.01
R7302:Zfyve26 UTSW 12 79,297,942 (GRCm39) missense probably damaging 1.00
R7355:Zfyve26 UTSW 12 79,286,828 (GRCm39) missense probably damaging 1.00
R7466:Zfyve26 UTSW 12 79,334,581 (GRCm39) missense probably benign 0.00
R7540:Zfyve26 UTSW 12 79,315,450 (GRCm39) missense probably damaging 0.99
R7552:Zfyve26 UTSW 12 79,337,731 (GRCm39) missense probably damaging 0.97
R7762:Zfyve26 UTSW 12 79,315,409 (GRCm39) missense probably benign 0.02
R7806:Zfyve26 UTSW 12 79,327,129 (GRCm39) critical splice donor site probably null
R7821:Zfyve26 UTSW 12 79,302,098 (GRCm39) missense probably damaging 1.00
R8141:Zfyve26 UTSW 12 79,315,331 (GRCm39) missense possibly damaging 0.79
R8190:Zfyve26 UTSW 12 79,327,610 (GRCm39) missense probably benign 0.00
R8207:Zfyve26 UTSW 12 79,307,605 (GRCm39) missense probably damaging 1.00
R8210:Zfyve26 UTSW 12 79,302,037 (GRCm39) missense probably damaging 1.00
R8500:Zfyve26 UTSW 12 79,334,454 (GRCm39) missense probably damaging 0.99
R8686:Zfyve26 UTSW 12 79,334,227 (GRCm39) missense probably benign
R8758:Zfyve26 UTSW 12 79,311,083 (GRCm39) critical splice donor site probably benign
R8826:Zfyve26 UTSW 12 79,285,742 (GRCm39) missense probably benign 0.05
R8877:Zfyve26 UTSW 12 79,334,152 (GRCm39) missense probably benign 0.05
R9067:Zfyve26 UTSW 12 79,318,915 (GRCm39) missense probably damaging 0.99
R9195:Zfyve26 UTSW 12 79,311,168 (GRCm39) missense probably benign 0.12
R9269:Zfyve26 UTSW 12 79,323,076 (GRCm39) missense possibly damaging 0.73
R9273:Zfyve26 UTSW 12 79,317,610 (GRCm39) critical splice donor site probably null
R9340:Zfyve26 UTSW 12 79,321,680 (GRCm39) nonsense probably null
R9348:Zfyve26 UTSW 12 79,315,231 (GRCm39) missense possibly damaging 0.81
R9482:Zfyve26 UTSW 12 79,291,239 (GRCm39) missense probably damaging 1.00
R9536:Zfyve26 UTSW 12 79,298,046 (GRCm39) missense probably benign 0.32
R9653:Zfyve26 UTSW 12 79,334,418 (GRCm39) missense probably benign
R9676:Zfyve26 UTSW 12 79,330,959 (GRCm39) missense probably benign 0.01
R9797:Zfyve26 UTSW 12 79,293,006 (GRCm39) missense probably damaging 0.98
RF010:Zfyve26 UTSW 12 79,302,112 (GRCm39) missense probably damaging 1.00
X0020:Zfyve26 UTSW 12 79,285,779 (GRCm39) missense probably damaging 1.00
Z1176:Zfyve26 UTSW 12 79,315,307 (GRCm39) missense probably benign 0.07
Z1177:Zfyve26 UTSW 12 79,334,149 (GRCm39) missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- AAGGTGTCTGCGTATGCCAG -3'
(R):5'- AGTGGAGGCCTGCATCAGATAG -3'

Sequencing Primer
(F):5'- AGGGAAGCGCTGTACCTG -3'
(R):5'- CCTGCATCAGATAGAAGGAAGACTG -3'
Posted On 2018-02-28