Incidental Mutation 'R7806:Zfyve26'
ID 600799
Institutional Source Beutler Lab
Gene Symbol Zfyve26
Ensembl Gene ENSMUSG00000066440
Gene Name zinc finger, FYVE domain containing 26
Synonyms A630028O16Rik, 9330197E15Rik, LOC380767
MMRRC Submission 045861-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7806 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 79279120-79343078 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 79327129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000021547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021547] [ENSMUST00000218377]
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 benign
Transcript: ENSMUST00000218377
Meta Mutation Damage Score 0.9496 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (83/85)
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
2810004N23Rik C A 8: 125,569,143 (GRCm39) V144F probably benign Het
Aar2 T A 2: 156,393,031 (GRCm39) I140N possibly damaging Het
Abca15 A G 7: 119,932,059 (GRCm39) N104S probably damaging Het
Adam22 A T 5: 8,142,825 (GRCm39) N803K probably damaging Het
Adk A G 14: 21,376,679 (GRCm39) N26S Het
Ak9 A C 10: 41,309,080 (GRCm39) probably null Het
Alpk2 T C 18: 65,482,487 (GRCm39) D40G probably benign Het
Ankrd65 A T 4: 155,877,437 (GRCm39) H316L probably benign Het
Cabp7 C T 11: 4,688,889 (GRCm39) A194T probably damaging Het
Ccdc180 A C 4: 45,912,801 (GRCm39) K593N possibly damaging Het
Cd80 A G 16: 38,294,315 (GRCm39) D66G probably benign Het
Cdh5 T C 8: 104,867,448 (GRCm39) V575A probably damaging Het
Cep350 T C 1: 155,737,809 (GRCm39) Q2678R probably benign Het
Cideb G A 14: 55,992,625 (GRCm39) T97M probably damaging Het
Clca4b T C 3: 144,638,157 (GRCm39) D35G probably benign Het
Clpx T C 9: 65,207,213 (GRCm39) V37A probably benign Het
Cmya5 A C 13: 93,230,770 (GRCm39) S1439R probably benign Het
Cndp2 T A 18: 84,688,945 (GRCm39) H279L probably benign Het
Cngb1 A T 8: 96,025,432 (GRCm39) probably null Het
Cpq T A 15: 33,497,443 (GRCm39) N394K possibly damaging Het
Dedd T C 1: 171,166,062 (GRCm39) L60P probably benign Het
Dennd3 C A 15: 73,442,624 (GRCm39) L1216M possibly damaging Het
Dntt A T 19: 41,018,071 (GRCm39) N65I probably benign Het
Fap T A 2: 62,333,758 (GRCm39) E662V probably damaging Het
Fasn A T 11: 120,700,821 (GRCm39) M2066K probably benign Het
Fggy G A 4: 95,489,203 (GRCm39) G69E probably benign Het
Foxc1 G T 13: 31,992,739 (GRCm39) G517C unknown Het
Gas2l3 A G 10: 89,249,232 (GRCm39) Y629H probably benign Het
Gcnt2 A G 13: 41,071,717 (GRCm39) N120S probably damaging Het
Gfpt2 A G 11: 49,714,142 (GRCm39) T300A probably benign Het
Glud1 A G 14: 34,065,606 (GRCm39) R535G probably damaging Het
Gm3248 T A 14: 5,943,883 (GRCm38) I114L probably benign Het
Gm3278 G A 14: 16,082,211 (GRCm39) probably null Het
Gm3402 A C 5: 146,451,090 (GRCm39) K44Q probably damaging Het
Gm3696 C G 14: 18,433,094 (GRCm39) R188S probably benign Het
Gm3696 C A 14: 18,433,095 (GRCm39) R188M probably benign Het
Gmppa T C 1: 75,415,581 (GRCm39) L113P probably damaging Het
Gmps A G 3: 63,890,091 (GRCm39) probably null Het
Gnal T A 18: 67,346,145 (GRCm39) M275K probably damaging Het
Gopc G C 10: 52,229,525 (GRCm39) N231K probably damaging Het
Gpr152 T C 19: 4,193,487 (GRCm39) S343P probably benign Het
Gpr17 T C 18: 32,080,593 (GRCm39) I157V probably benign Het
Grm7 T A 6: 111,223,314 (GRCm39) Y451* probably null Het
Ikbke T C 1: 131,199,635 (GRCm39) E286G probably damaging Het
Inpp5b A T 4: 124,678,881 (GRCm39) probably null Het
Iqgap2 G A 13: 95,818,765 (GRCm39) L664F probably benign Het
Kif17 A G 4: 138,015,507 (GRCm39) E552G possibly damaging Het
Lamtor1 T A 7: 101,555,220 (GRCm39) Y5* probably null Het
Lpin2 A G 17: 71,552,166 (GRCm39) I829V probably damaging Het
Lrg1 T G 17: 56,426,967 (GRCm39) D335A probably benign Het
Lrriq3 T C 3: 154,804,444 (GRCm39) Y35H probably damaging Het
Mkx T A 18: 7,000,607 (GRCm39) M112L probably benign Het
Mlxipl A C 5: 135,163,397 (GRCm39) D760A possibly damaging Het
Muc6 T C 7: 141,217,387 (GRCm39) T2429A possibly damaging Het
N4bp2l2 A G 5: 150,566,715 (GRCm39) C134R unknown Het
Nanos1 A G 19: 60,744,972 (GRCm39) E90G probably benign Het
Nckap1 T C 2: 80,371,843 (GRCm39) D329G probably damaging Het
Or13a18 T C 7: 140,190,685 (GRCm39) I194T probably benign Het
Or14j9 A C 17: 37,875,112 (GRCm39) L30R probably damaging Het
Or8b12c T C 9: 37,715,872 (GRCm39) S222P probably damaging Het
Or8g51 G T 9: 38,609,567 (GRCm39) L32I probably benign Het
Osbpl7 A G 11: 96,946,954 (GRCm39) H419R probably benign Het
Otog C T 7: 45,935,200 (GRCm39) T1395I probably benign Het
Pigq T A 17: 26,150,700 (GRCm39) I451F probably benign Het
Ptgfrn A G 3: 100,984,448 (GRCm39) V248A possibly damaging Het
Rdh19 G T 10: 127,692,740 (GRCm39) V136L probably damaging Het
Rfesd T C 13: 76,156,308 (GRCm39) T33A possibly damaging Het
Rnf213 G A 11: 119,302,371 (GRCm39) V432M Het
Rpl22l1 T A 3: 28,860,962 (GRCm39) L60Q probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGGGGCGGCGG 7: 97,229,127 (GRCm39) probably benign Het
Samd3 A G 10: 26,120,425 (GRCm39) T140A probably benign Het
Sbf1 A G 15: 89,189,623 (GRCm39) V419A possibly damaging Het
Serpinb6a T C 13: 34,119,548 (GRCm39) probably null Het
Slc22a4 A G 11: 53,881,476 (GRCm39) L414P probably damaging Het
Smarcd3 A T 5: 24,798,260 (GRCm39) V420D probably benign Het
Tcaim A G 9: 122,663,995 (GRCm39) D495G probably damaging Het
Tep1 A G 14: 51,074,266 (GRCm39) V1873A possibly damaging Het
Tmcc2 T C 1: 132,288,527 (GRCm39) N387D probably damaging Het
Tmed8 A T 12: 87,219,204 (GRCm39) I322N probably damaging Het
Tmod4 A C 3: 95,034,915 (GRCm39) D168A probably benign Het
Trgc2 A T 13: 19,491,390 (GRCm39) probably benign Het
Trp53bp1 C T 2: 121,035,542 (GRCm39) E1520K probably damaging Het
Trpv5 T A 6: 41,651,867 (GRCm39) I183F probably damaging Het
Vmn2r70 A T 7: 85,208,401 (GRCm39) I692K probably benign Het
Vmn2r87 T A 10: 130,315,679 (GRCm39) Y129F probably benign Het
Vps8 A G 16: 21,278,501 (GRCm39) D253G probably damaging Het
Ythdc2 T C 18: 44,977,353 (GRCm39) I383T possibly damaging Het
Ythdc2 T C 18: 44,983,491 (GRCm39) S553P probably benign Het
Zic1 G A 9: 91,247,024 (GRCm39) T16I 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
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
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'- AGGCGGGGTGATCTTCATTAC -3'
(R):5'- TGAATGGATTCCTGGCCGATG -3'

Sequencing Primer
(F):5'- TACGCTTTGGGACCTGTAGCAC -3'
(R):5'- TGCAATGGGAGCGTTCCTCAG -3'
Posted On 2019-11-26