Incidental Mutation 'R4908:Zfyve26'
ID 379227
Institutional Source Beutler Lab
Gene Symbol Zfyve26
Ensembl Gene ENSMUSG00000066440
Gene Name zinc finger, FYVE domain containing 26
Synonyms A630028O16Rik, 9330197E15Rik, LOC380767
MMRRC Submission 042510-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4908 (G1)
Quality Score 165
Status Not validated
Chromosome 12
Chromosomal Location 79279120-79343078 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 79296469 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021547] [ENSMUST00000218377] [ENSMUST00000219912]
AlphaFold Q5DU37
Predicted Effect probably null
Transcript: ENSMUST00000021547
SMART Domains Protein: ENSMUSP00000021547
Gene: ENSMUSG00000066440

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 null
Transcript: ENSMUST00000218377
Predicted Effect probably benign
Transcript: ENSMUST00000219912
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220092
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.0%
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059G10Rik T A 9: 122,778,008 (GRCm39) I79L probably benign Het
Ablim2 C T 5: 35,959,766 (GRCm39) R73C possibly damaging Het
Acaa1a G A 9: 119,177,772 (GRCm39) S218N probably benign Het
Acsm5 A T 7: 119,137,314 (GRCm39) I377F probably damaging Het
Ahnak2 T C 12: 112,741,706 (GRCm39) T789A probably benign Het
Ak9 A T 10: 41,296,678 (GRCm39) T1475S unknown Het
AU040320 A T 4: 126,747,081 (GRCm39) N1028Y probably damaging Het
Bahcc1 T A 11: 120,178,580 (GRCm39) S2380T probably benign Het
Cadps A G 14: 12,536,386 (GRCm38) Y525H probably damaging Het
Casp8ap2 A G 4: 32,639,905 (GRCm39) T320A possibly damaging Het
Ccdc138 A G 10: 58,380,817 (GRCm39) N483D possibly damaging Het
Ccdc39 G A 3: 33,893,242 (GRCm39) probably null Het
Cd300c2 T C 11: 114,887,772 (GRCm39) N210S probably damaging Het
Cd84 A G 1: 171,700,432 (GRCm39) D183G probably damaging Het
Cep95 C T 11: 106,702,172 (GRCm39) P390S probably damaging Het
Chd9 A T 8: 91,741,877 (GRCm39) H1622L possibly damaging Het
Cilp C A 9: 65,185,302 (GRCm39) Q466K probably benign Het
Cinp T A 12: 110,850,487 (GRCm39) T5S probably damaging Het
Clec4a2 T C 6: 123,119,462 (GRCm39) L238S probably damaging Het
Cntrob T C 11: 69,211,732 (GRCm39) Y164C probably damaging Het
Col6a3 A G 1: 90,735,246 (GRCm39) L1408P probably damaging Het
Cul3 G A 1: 80,258,632 (GRCm39) S468L possibly damaging Het
Dnah11 T A 12: 118,090,618 (GRCm39) D1081V probably benign Het
Dnah2 C A 11: 69,411,973 (GRCm39) V263L probably benign Het
Efna3 C G 3: 89,222,805 (GRCm39) R185P probably damaging Het
F5 A T 1: 164,039,389 (GRCm39) I2000F probably damaging Het
Fancm G A 12: 65,141,645 (GRCm39) G422E probably benign Het
Gcnt2 A T 13: 41,014,210 (GRCm39) D127V probably damaging Het
Gm21798 G T 15: 64,689,618 (GRCm39) probably benign Het
Gramd1a A C 7: 30,838,292 (GRCm39) S320R probably benign Het
Grn T C 11: 102,327,344 (GRCm39) probably benign Het
Helq A T 5: 100,910,507 (GRCm39) probably null Het
Herc2 A G 7: 55,827,660 (GRCm39) I2914V probably benign Het
Hnrnph1 T C 11: 50,269,237 (GRCm39) V27A probably damaging Het
Hs1bp3 G T 12: 8,374,007 (GRCm39) G182C probably damaging Het
Idnk C T 13: 58,311,267 (GRCm39) P78L probably benign Het
Il10ra T C 9: 45,166,919 (GRCm39) D544G probably benign Het
Inpp5e T C 2: 26,290,918 (GRCm39) D383G probably damaging Het
Jak1 A T 4: 101,036,911 (GRCm39) V243D probably damaging Het
Kcnma1 A T 14: 23,359,220 (GRCm39) S1036T probably damaging Het
Kif26a G A 12: 112,123,776 (GRCm39) C127Y probably damaging Het
Kif2c T C 4: 117,023,608 (GRCm39) E368G probably damaging Het
Lasp1 T A 11: 97,724,530 (GRCm39) probably null Het
Lcor T A 19: 41,572,601 (GRCm39) V452D probably benign Het
Lrrtm1 C G 6: 77,221,661 (GRCm39) H373D probably benign Het
Matr3 T A 18: 35,705,754 (GRCm39) D226E probably damaging Het
Mmp17 G A 5: 129,682,730 (GRCm39) W456* probably null Het
Mpp4 T C 1: 59,164,748 (GRCm39) E463G probably damaging Het
Myh6 A C 14: 55,194,419 (GRCm39) F737V probably damaging Het
Nars2 T A 7: 96,672,948 (GRCm39) D271E probably benign Het
Nav2 A G 7: 49,254,258 (GRCm39) E2352G probably damaging Het
Nckap1 A G 2: 80,353,718 (GRCm39) probably null Het
Nckap5 A T 1: 125,955,324 (GRCm39) S477R probably damaging Het
Nek11 T G 9: 105,175,488 (GRCm39) I319L probably benign Het
Neto2 A G 8: 86,396,393 (GRCm39) I84T probably damaging Het
Nlrp9a A T 7: 26,250,369 (GRCm39) I45F probably damaging Het
Numa1 G A 7: 101,662,012 (GRCm39) R548H probably damaging Het
Or10a5 A C 7: 106,635,364 (GRCm39) M1L probably benign Het
Or14c39 A C 7: 86,344,395 (GRCm39) I244L probably benign Het
Or2ag1b A T 7: 106,288,740 (GRCm39) L66H probably damaging Het
Or4c10 A T 2: 89,760,923 (GRCm39) M257L probably benign Het
Or4c100 T A 2: 88,356,254 (GRCm39) I109N probably damaging Het
Or4k36 T A 2: 111,146,574 (GRCm39) F250Y probably benign Het
Or7g25 A G 9: 19,160,149 (GRCm39) V182A probably benign Het
Or9m1 A T 2: 87,733,533 (GRCm39) N162K probably damaging Het
Pcdhb16 T A 18: 37,612,894 (GRCm39) probably null Het
Pdcd10 T C 3: 75,448,553 (GRCm39) T4A probably damaging Het
Pgc A T 17: 48,039,819 (GRCm39) Y71F probably damaging Het
Phlpp1 G A 1: 106,317,481 (GRCm39) G1234E probably damaging Het
Prr27 T C 5: 87,990,888 (GRCm39) F167L probably benign Het
Prrc2b T A 2: 32,116,330 (GRCm39) S1421T possibly damaging Het
Pxmp2 A G 5: 110,431,518 (GRCm39) V75A probably benign Het
Pygl A T 12: 70,243,807 (GRCm39) M545K probably null Het
Ranbp9 A G 13: 43,574,733 (GRCm39) Y412H possibly damaging Het
Rcc1 A G 4: 132,065,064 (GRCm39) V140A probably damaging Het
Reln A G 5: 22,184,718 (GRCm39) V1599A probably benign Het
Rhebl1 A T 15: 98,776,903 (GRCm39) D122E probably damaging Het
Rock2 C T 12: 17,009,492 (GRCm39) L676F probably benign Het
Scn9a A T 2: 66,357,087 (GRCm39) D1062E probably benign Het
Sec63 T C 10: 42,681,186 (GRCm39) I390T probably damaging Het
Slc10a6 T C 5: 103,754,493 (GRCm39) E346G probably benign Het
Slc12a3 G A 8: 95,075,216 (GRCm39) V737M possibly damaging Het
Slc12a8 T C 16: 33,426,629 (GRCm39) probably null Het
Slc25a38 T A 9: 119,949,354 (GRCm39) I102N probably damaging Het
Spg7 T A 8: 123,807,394 (GRCm39) V390E probably damaging Het
Tbc1d20 T C 2: 152,144,228 (GRCm39) V75A probably benign Het
Tesk1 T A 4: 43,445,555 (GRCm39) C243* probably null Het
Ttk T A 9: 83,725,739 (GRCm39) N220K possibly damaging Het
Ttll5 A G 12: 85,965,948 (GRCm39) E651G probably benign Het
Tubd1 T C 11: 86,457,879 (GRCm39) Y426H probably damaging Het
Uba6 T C 5: 86,288,293 (GRCm39) silent Het
Ube2ql1 G A 13: 69,852,289 (GRCm39) R263W probably damaging Het
Vmn2r117 C T 17: 23,678,812 (GRCm39) G804D probably damaging Het
Vmn2r25 C T 6: 123,805,406 (GRCm39) E484K probably benign Het
Vmn2r4 T A 3: 64,296,476 (GRCm39) I770F possibly damaging Het
Vmn2r82 G A 10: 79,214,589 (GRCm39) V191M probably benign Het
Zbtb45 C T 7: 12,742,037 (GRCm39) V74M probably damaging Het
Zfp366 T C 13: 99,370,609 (GRCm39) V443A possibly damaging Het
Zfyve1 A T 12: 83,598,345 (GRCm39) C628S probably damaging 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
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
R6247:Zfyve26 UTSW 12 79,329,758 (GRCm39) missense probably benign 0.04
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'- TTGACGAACATCATCTTGGCAC -3'
(R):5'- TGTGTGACAAAACCTAGCAGC -3'

Sequencing Primer
(F):5'- CATCATCTTGGCACTGAAGAGTAGC -3'
(R):5'- GTGACAAAACCTAGCAGCCAGAG -3'
Posted On 2016-04-15