Incidental Mutation 'R8826:Zfyve26'
ID 673481
Institutional Source Beutler Lab
Gene Symbol Zfyve26
Ensembl Gene ENSMUSG00000066440
Gene Name zinc finger, FYVE domain containing 26
Synonyms A630028O16Rik, 9330197E15Rik, LOC380767
MMRRC Submission 068729-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8826 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 79279120-79343078 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79285742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 2345 (V2345A)
Ref Sequence ENSEMBL: ENSMUSP00000021547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021547] [ENSMUST00000218377]
AlphaFold Q5DU37
Predicted Effect probably benign
Transcript: ENSMUST00000021547
AA Change: V2345A

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000021547
Gene: ENSMUSG00000066440
AA Change: V2345A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (91/91)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta1 T C 8: 124,619,978 (GRCm39) M121V probably damaging Het
AI987944 A T 7: 41,024,627 (GRCm39) H120Q possibly damaging Het
Aldh9a1 C G 1: 167,184,119 (GRCm39) P205A probably damaging Het
Ank2 A T 3: 126,740,951 (GRCm39) N1644K unknown Het
Arfgef2 A T 2: 166,677,386 (GRCm39) probably benign Het
Bpifb4 G T 2: 153,783,817 (GRCm39) V54L probably benign Het
Cacna1c T A 6: 118,711,836 (GRCm39) M456L Het
Cbln1 T C 8: 88,198,420 (GRCm39) N95S probably benign Het
Ccl11 G T 11: 81,953,044 (GRCm39) R67S possibly damaging Het
Cd200 G A 16: 45,215,157 (GRCm39) R165C probably benign Het
Cd2bp2 A T 7: 126,793,257 (GRCm39) M283K probably damaging Het
Cd86 G T 16: 36,435,650 (GRCm39) L256I possibly damaging Het
Ces2f T A 8: 105,679,734 (GRCm39) F409Y probably benign Het
Cisd3 A T 11: 97,579,158 (GRCm39) Q100L probably damaging Het
Cntnap1 C T 11: 101,077,655 (GRCm39) R1106C probably damaging Het
Col6a2 A T 10: 76,439,433 (GRCm39) M777K probably damaging Het
Cp A G 3: 20,039,739 (GRCm39) Y852C probably damaging Het
Ddx1 T C 12: 13,277,332 (GRCm39) E523G probably damaging Het
Ddx60 T A 8: 62,398,990 (GRCm39) D236E probably benign Het
Dnah9 A T 11: 65,740,742 (GRCm39) F4148Y probably benign Het
Dusp6 G T 10: 99,099,469 (GRCm39) probably benign Het
Eif2a C A 3: 58,456,049 (GRCm39) Y349* probably null Het
Enpep G A 3: 129,065,067 (GRCm39) T874I probably damaging Het
Eps15 A G 4: 109,169,505 (GRCm39) D105G possibly damaging Het
Ess2 A T 16: 17,722,954 (GRCm39) M320K probably damaging Het
Exosc10 G A 4: 148,653,159 (GRCm39) probably null Het
Fam13b A T 18: 34,631,070 (GRCm39) N36K probably damaging Het
Fanca T C 8: 123,995,209 (GRCm39) D1431G probably benign Het
Fgg A G 3: 82,921,625 (GRCm39) D436G probably benign Het
Fip1l1 C T 5: 74,725,188 (GRCm39) T251I probably benign Het
Galnt2 A G 8: 125,032,347 (GRCm39) N104S probably damaging Het
Gmip T C 8: 70,268,748 (GRCm39) S458P possibly damaging Het
Herc2 A G 7: 55,756,144 (GRCm39) D728G probably benign Het
Hif3a A G 7: 16,788,671 (GRCm39) L100P probably damaging Het
Hmox2 C G 16: 4,583,866 (GRCm39) P282R possibly damaging Het
Hook1 A T 4: 95,880,432 (GRCm39) H90L probably benign Het
Igf2bp2 C A 16: 21,883,866 (GRCm39) G473C probably damaging Het
Ip6k2 T C 9: 108,675,379 (GRCm39) probably null Het
Ipo5 G T 14: 121,157,366 (GRCm39) R68L probably damaging Het
Kif19b A G 5: 140,455,434 (GRCm39) M347V probably damaging Het
Klhdc1 G T 12: 69,305,392 (GRCm39) W234L probably damaging Het
Krt8 A G 15: 101,909,870 (GRCm39) V178A possibly damaging Het
Lgi3 T A 14: 70,768,712 (GRCm39) probably null Het
Litaf T G 16: 10,784,421 (GRCm39) N30H probably benign Het
Lman2 C A 13: 55,510,368 (GRCm39) W12L unknown Het
Macf1 A G 4: 123,276,022 (GRCm39) L6182P probably damaging Het
Magi3 A T 3: 103,992,662 (GRCm39) M270K probably benign Het
Mapre2 A T 18: 23,886,888 (GRCm39) probably benign Het
Minar1 T A 9: 89,483,234 (GRCm39) E721V probably damaging Het
Mllt10 T A 2: 18,167,353 (GRCm39) V426D probably benign Het
Mrgprf A G 7: 144,862,046 (GRCm39) I203V probably benign Het
Mrnip G A 11: 50,067,688 (GRCm39) C27Y probably damaging Het
Mrpl24 C T 3: 87,829,701 (GRCm39) R96* probably null Het
Nbas T A 12: 13,402,875 (GRCm39) probably benign Het
Nipal4 G A 11: 46,045,470 (GRCm39) T131M possibly damaging Het
Nlrp12 T C 7: 3,289,621 (GRCm39) D297G possibly damaging Het
Nol6 A C 4: 41,121,823 (GRCm39) M237R probably benign Het
Olig1 A G 16: 91,067,027 (GRCm39) E88G probably benign Het
Or1j19 T A 2: 36,676,855 (GRCm39) L106* probably null Het
Parg A G 14: 31,931,175 (GRCm39) D265G possibly damaging Het
Pcdhgb8 A T 18: 37,895,301 (GRCm39) I124L probably damaging Het
Pign A G 1: 105,481,827 (GRCm39) F822L probably damaging Het
Plch2 T C 4: 155,071,140 (GRCm39) T1080A probably benign Het
Pld4 A T 12: 112,733,210 (GRCm39) Y262F possibly damaging Het
Ppp1r12b A G 1: 134,693,730 (GRCm39) V977A probably benign Het
Ppp6r3 C T 19: 3,521,984 (GRCm39) E565K Het
Psmg2 A G 18: 67,787,158 (GRCm39) probably benign Het
Ptcd3 C T 6: 71,885,645 (GRCm39) G27D probably benign Het
Retreg2 G T 1: 75,119,525 (GRCm39) G7C unknown Het
Rlbp1 A T 7: 79,027,114 (GRCm39) F182Y probably benign Het
Rnf148 G C 6: 23,654,378 (GRCm39) S206C probably benign Het
Sash1 A G 10: 8,637,869 (GRCm39) M1T probably null Het
Shank3 A T 15: 89,433,598 (GRCm39) T1448S probably damaging Het
Sipa1l1 A G 12: 82,389,207 (GRCm39) K478E probably damaging Het
Slitrk6 A G 14: 110,988,801 (GRCm39) I302T probably benign Het
Smc1b A G 15: 84,950,529 (GRCm39) V1165A probably damaging Het
Sncaip A T 18: 53,048,381 (GRCm39) H939L probably benign Het
Stn1 T C 19: 47,524,709 (GRCm39) D27G probably damaging Het
Sugct T G 13: 17,427,180 (GRCm39) probably null Het
Tmem259 A G 10: 79,814,983 (GRCm39) S214P probably damaging Het
Trdv4 G A 14: 54,312,946 (GRCm39) G107S probably damaging Het
Ttc3 C T 16: 94,232,829 (GRCm39) L957F possibly damaging Het
Ttn A G 2: 76,711,471 (GRCm39) Y8357H unknown Het
Twnk T C 19: 44,996,434 (GRCm39) V289A probably benign Het
Umodl1 A G 17: 31,202,958 (GRCm39) D437G possibly damaging Het
Upf1 T C 8: 70,790,930 (GRCm39) T590A probably benign Het
Vmn2r63 A T 7: 42,576,441 (GRCm39) D457E probably benign Het
Wdr82 A T 9: 106,061,975 (GRCm39) T213S probably benign Het
Zfp267 T C 3: 36,218,255 (GRCm39) Y93H possibly damaging Het
Zfp672 A T 11: 58,220,590 (GRCm39) M3K unknown 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
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
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'- TAACCTGGATGGAGAGGGAC -3'
(R):5'- TTTCCATTGCTGTGATGAACC -3'

Sequencing Primer
(F):5'- AGATCATGCTGGCCTTGAAC -3'
(R):5'- TGCTGTGATGAACCAGTCAC -3'
Posted On 2021-07-15