Incidental Mutation 'R1982:Zfyve26'
ID 220001
Institutional Source Beutler Lab
Gene Symbol Zfyve26
Ensembl Gene ENSMUSG00000066440
Gene Name zinc finger, FYVE domain containing 26
Synonyms A630028O16Rik, 9330197E15Rik, LOC380767
MMRRC Submission 039994-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1982 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 79279120-79343078 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79302017 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 431 (Y431H)
Ref Sequence ENSEMBL: ENSMUSP00000151290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021547] [ENSMUST00000218377] [ENSMUST00000219912]
AlphaFold Q5DU37
Predicted Effect probably benign
Transcript: ENSMUST00000021547
AA Change: Y1860H

PolyPhen 2 Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000021547
Gene: ENSMUSG00000066440
AA Change: Y1860H

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 noncoding transcript
Transcript: ENSMUST00000217723
Predicted Effect probably benign
Transcript: ENSMUST00000218377
Predicted Effect possibly damaging
Transcript: ENSMUST00000219912
AA Change: Y431H

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220092
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk G T 11: 119,904,340 (GRCm39) P252Q probably damaging Het
Adamts4 T C 1: 171,086,503 (GRCm39) V765A probably benign Het
Agfg2 A T 5: 137,662,515 (GRCm39) V184E possibly damaging Het
Alas1 A T 9: 106,115,384 (GRCm39) I48N probably damaging Het
Anks1 T C 17: 28,204,095 (GRCm39) V181A probably damaging Het
Anxa8 A T 14: 33,818,527 (GRCm39) R261S probably damaging Het
Aqp4 T C 18: 15,526,608 (GRCm39) D291G probably damaging Het
Atrn A G 2: 130,812,142 (GRCm39) R696G probably benign Het
Barx2 A C 9: 31,824,308 (GRCm39) I27S probably damaging Het
Btnl1 A T 17: 34,598,725 (GRCm39) I114L possibly damaging Het
Casq1 C T 1: 172,043,097 (GRCm39) A200T probably damaging Het
Ccdc33 T A 9: 58,024,451 (GRCm39) E225D probably benign Het
Cd84 C A 1: 171,712,152 (GRCm39) probably null Het
Ceacam9 T G 7: 16,459,232 (GRCm39) L177R probably benign Het
Cenpi T A X: 133,218,782 (GRCm39) F161L possibly damaging Het
Cep63 T C 9: 102,480,079 (GRCm39) K251E probably damaging Het
Cetn3 A G 13: 81,932,816 (GRCm39) E25G probably damaging Het
Crybg3 T C 16: 59,364,488 (GRCm39) D2378G possibly damaging Het
Ddx19b T C 8: 111,735,975 (GRCm39) T357A possibly damaging Het
Dpep2 A C 8: 106,716,087 (GRCm39) Y266* probably null Het
Dqx1 G A 6: 83,035,558 (GRCm39) D24N probably damaging Het
Dsg4 A T 18: 20,604,269 (GRCm39) Y912F probably damaging Het
Fezf2 G T 14: 12,344,405 (GRCm38) P261T probably benign Het
Fmo1 T C 1: 162,667,325 (GRCm39) I163M possibly damaging Het
Garin1a A G 6: 29,285,921 (GRCm39) T69A probably benign Het
Gatad2a G A 8: 70,365,782 (GRCm39) R428* probably null Het
Gfpt1 T A 6: 87,031,612 (GRCm39) F85I possibly damaging Het
Gimap7 A T 6: 48,701,175 (GRCm39) I254F possibly damaging Het
Glcci1 T C 6: 8,592,980 (GRCm39) S261P probably damaging Het
Glis3 A T 19: 28,508,674 (GRCm39) F437I probably damaging Het
Glp1r C A 17: 31,144,601 (GRCm39) S258* probably null Het
Gpt2 C T 8: 86,242,832 (GRCm39) A288V possibly damaging Het
Grin2c G T 11: 115,151,731 (GRCm39) S76R possibly damaging Het
Guf1 T A 5: 69,724,569 (GRCm39) Y447* probably null Het
H2-T9 T A 17: 36,439,614 (GRCm39) D122V probably damaging Het
Hectd1 A C 12: 51,832,624 (GRCm39) L916V probably damaging Het
Hnf4g A G 3: 3,703,268 (GRCm39) K96E probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ifi207 T G 1: 173,562,805 (GRCm39) M114L probably benign Het
Ifi35 A T 11: 101,349,112 (GRCm39) E252V probably damaging Het
Igsf9b G A 9: 27,233,535 (GRCm39) R345H possibly damaging Het
Itih3 T C 14: 30,645,540 (GRCm39) probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Kidins220 A T 12: 25,101,193 (GRCm39) M1252L probably benign Het
Kifap3 T A 1: 163,689,591 (GRCm39) L525* probably null Het
Limk2 A T 11: 3,305,461 (GRCm39) D35E probably benign Het
Lrrc37a G A 11: 103,389,792 (GRCm39) P1878S probably benign Het
Mansc4 T A 6: 146,977,173 (GRCm39) I148F probably benign Het
Mei1 A G 15: 81,987,513 (GRCm39) N859S probably benign Het
Mib1 A G 18: 10,812,064 (GRCm39) D987G probably damaging Het
Mroh8 A G 2: 157,113,895 (GRCm39) V132A possibly damaging Het
Npnt T C 3: 132,653,893 (GRCm39) I29M probably benign Het
Nrap T C 19: 56,372,537 (GRCm39) D138G probably damaging Het
Or10a3m A G 7: 108,312,902 (GRCm39) Y102C probably damaging Het
Or1e16 A T 11: 73,285,918 (GRCm39) I310N probably benign Het
Or2h1 T A 17: 37,404,700 (GRCm39) E22V probably damaging Het
Or6z7 T C 7: 6,483,931 (GRCm39) M75V probably benign Het
Osbpl5 A C 7: 143,295,408 (GRCm39) probably null Het
Pcna-ps2 T C 19: 9,261,047 (GRCm39) V102A possibly damaging Het
Pik3c2g T C 6: 139,599,546 (GRCm39) S221P probably damaging Het
Plppr3 A G 10: 79,702,259 (GRCm39) I271T probably damaging Het
Ppp4r3c1 A T X: 88,975,051 (GRCm39) V382E probably damaging Het
Pramel25 C A 4: 143,521,720 (GRCm39) H445Q probably benign Het
Prkar1b C T 5: 139,113,398 (GRCm39) A41T probably benign Het
Prkcsh A G 9: 21,924,164 (GRCm39) D458G probably damaging Het
Prr14 G T 7: 127,074,662 (GRCm39) R398L possibly damaging Het
Ptafr A G 4: 132,307,296 (GRCm39) R229G probably damaging Het
Rbp3 T C 14: 33,676,502 (GRCm39) F150S probably damaging Het
Rel C T 11: 23,692,761 (GRCm39) G424D probably benign Het
Rlf T C 4: 121,007,309 (GRCm39) Y557C probably damaging Het
Samt3 A C X: 85,090,740 (GRCm39) M211L probably benign Het
Selenop A T 15: 3,305,176 (GRCm39) I111F probably damaging Het
Slc2a2 G A 3: 28,771,590 (GRCm39) M173I probably benign Het
Slc43a1 G T 2: 84,687,233 (GRCm39) G361V possibly damaging Het
Slit2 G A 5: 48,407,178 (GRCm39) V870M probably damaging Het
Ssxb10 A G X: 8,197,258 (GRCm39) D77G probably benign Het
Stk32b T A 5: 37,806,458 (GRCm39) I29F probably damaging Het
Stra6l T A 4: 45,867,237 (GRCm39) C161* probably null Het
Tecpr2 T A 12: 110,921,219 (GRCm39) M1264K probably benign Het
Tfap2c A T 2: 172,399,156 (GRCm39) I468F probably damaging Het
Ticam1 C T 17: 56,578,555 (GRCm39) R180H probably damaging Het
Tlr4 T A 4: 66,759,272 (GRCm39) N688K probably benign Het
Tmem35b A T 4: 127,019,846 (GRCm39) probably benign Het
Ugt2b34 T C 5: 87,054,172 (GRCm39) E203G probably damaging Het
Vegfa A C 17: 46,329,786 (GRCm39) *393G probably null Het
Vmn2r16 T C 5: 109,511,890 (GRCm39) V699A probably benign Het
Zfp324 T C 7: 12,705,145 (GRCm39) S445P probably damaging Het
Zfp982 T A 4: 147,597,049 (GRCm39) C135* probably null Het
Zfp990 A C 4: 145,263,439 (GRCm39) N146H 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
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
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'- AGCCTGTGAGAGCTCTGAAC -3'
(R):5'- AGTGCCCAGTATTCTTAATTGACC -3'

Sequencing Primer
(F):5'- TGTGAGAGCTCTGAACACTCC -3'
(R):5'- TATACACACATATGAGTGACAGTCTC -3'
Posted On 2014-08-25