Incidental Mutation 'R7133:Zfyve26'
ID 552842
Institutional Source Beutler Lab
Gene Symbol Zfyve26
Ensembl Gene ENSMUSG00000066440
Gene Name zinc finger, FYVE domain containing 26
Synonyms A630028O16Rik, 9330197E15Rik, LOC380767
MMRRC Submission 045218-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7133 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 79279120-79343078 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 79330926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 431 (D431G)
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: D431G

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000021547
Gene: ENSMUSG00000066440
AA Change: D431G

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: D431G

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (91/93)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T A 10: 78,902,473 (GRCm39) K614N probably benign Het
2610008E11Rik T G 10: 78,902,474 (GRCm39) K614T probably benign Het
Ahsa1 T A 12: 87,317,116 (GRCm39) S120R probably benign Het
Anapc16 G A 10: 59,832,302 (GRCm39) T37I possibly damaging Het
Arid2 C A 15: 96,276,756 (GRCm39) P1606H probably damaging Het
Ash1l TATCTCCTTTTCCAAAAA TA 3: 88,890,764 (GRCm39) probably null Het
Asic1 T A 15: 99,569,968 (GRCm39) N96K probably damaging Het
Asph A T 4: 9,484,575 (GRCm39) D582E probably benign Het
Astn1 A G 1: 158,400,557 (GRCm39) D528G probably damaging Het
Atp9b A G 18: 80,952,871 (GRCm39) V164A Het
Cbx6 C T 15: 79,712,866 (GRCm39) G187D possibly damaging Het
Cct7 A G 6: 85,443,627 (GRCm39) T332A probably benign Het
Clca4a A T 3: 144,667,651 (GRCm39) L440* probably null Het
Crybg2 A T 4: 133,792,754 (GRCm39) I130F probably benign Het
Crybg3 T C 16: 59,357,167 (GRCm39) E798G probably damaging Het
Ctnnd2 A G 15: 30,480,995 (GRCm39) E81G possibly damaging Het
Cwc22 C T 2: 77,759,822 (GRCm39) R75H possibly damaging Het
Cym T G 3: 107,121,530 (GRCm39) D254A probably damaging Het
Dcaf11 T A 14: 55,806,383 (GRCm39) probably null Het
Dctn1 A T 6: 83,157,026 (GRCm39) probably null Het
Dennd5a C T 7: 109,495,449 (GRCm39) probably null Het
Dmpk T A 7: 18,821,232 (GRCm39) C217S probably damaging Het
Dnah1 C A 14: 31,008,033 (GRCm39) V2125L probably benign Het
Exoc4 G A 6: 33,415,408 (GRCm39) A427T probably benign Het
Farp2 G T 1: 93,548,956 (GRCm39) V1021F probably damaging Het
Flg2 T C 3: 93,127,069 (GRCm39) S1994P unknown Het
Fmnl1 T C 11: 103,072,610 (GRCm39) probably null Het
Frem2 T A 3: 53,479,760 (GRCm39) I1978F possibly damaging Het
Gan T A 8: 117,913,969 (GRCm39) C122* probably null Het
Gpr25 T A 1: 136,188,559 (GRCm39) Y18F probably damaging Het
Hoxa7 C T 6: 52,192,720 (GRCm39) E223K probably benign Het
Hypk A G 2: 121,283,961 (GRCm39) probably null Het
Ibsp A T 5: 104,450,172 (GRCm39) K27* probably null Het
Ighv6-5 T A 12: 114,380,395 (GRCm39) T41S probably benign Het
Ighv9-4 T C 12: 114,263,757 (GRCm39) M59V probably benign Het
Il17rb T C 14: 29,718,828 (GRCm39) D418G probably damaging Het
Ints5 T A 19: 8,872,923 (GRCm39) V294E probably damaging Het
Irx6 G A 8: 93,405,041 (GRCm39) C303Y probably damaging Het
Itih3 T A 14: 30,639,655 (GRCm39) I389F probably damaging Het
Lama1 C T 17: 68,089,141 (GRCm39) T1604I Het
Lama3 C A 18: 12,672,843 (GRCm39) Q873K probably benign Het
Lhx1 T G 11: 84,410,746 (GRCm39) S284R probably benign Het
Lrba T A 3: 86,302,238 (GRCm39) probably null Het
Lrg1 C T 17: 56,427,592 (GRCm39) G127R possibly damaging Het
Macir G A 1: 97,573,645 (GRCm39) P140L probably benign Het
Mapre1 T A 2: 153,606,883 (GRCm39) L205H probably benign Het
Meltf A G 16: 31,711,617 (GRCm39) N581S probably damaging Het
Mgat5 A C 1: 127,292,926 (GRCm39) M149L probably benign Het
Myh1 A G 11: 67,093,412 (GRCm39) T168A probably benign Het
Naalad2 C T 9: 18,238,673 (GRCm39) V681I probably benign Het
Or51e2 A G 7: 102,391,524 (GRCm39) S229P probably damaging Het
Or52r1c T A 7: 102,735,205 (GRCm39) L155Q probably damaging Het
Pcnx2 T C 8: 126,528,243 (GRCm39) T1326A probably benign Het
Peg3 A T 7: 6,711,944 (GRCm39) C1093S probably damaging Het
Pidd1 T C 7: 141,019,813 (GRCm39) S650G probably benign Het
Pik3c2b T C 1: 133,017,972 (GRCm39) S945P possibly damaging Het
Plec T C 15: 76,060,227 (GRCm39) T3237A possibly damaging Het
Prpf3 A T 3: 95,741,052 (GRCm39) probably null Het
Prpf4b C A 13: 35,085,477 (GRCm39) H974Q probably benign Het
Ptpn3 T C 4: 57,225,863 (GRCm39) T451A probably benign Het
Ptprs A G 17: 56,724,429 (GRCm39) Y1577H probably damaging Het
Rgr C T 14: 36,770,882 (GRCm39) M1I probably null Het
Rxrg A T 1: 167,458,678 (GRCm39) N257I probably benign Het
Sbno2 T C 10: 79,922,146 (GRCm39) D9G probably damaging Het
Scd1 T C 19: 44,395,034 (GRCm39) K64E probably damaging Het
Serpinb1a T A 13: 33,034,308 (GRCm39) I28F possibly damaging Het
Sfmbt2 A T 2: 10,406,818 (GRCm39) E39V probably damaging Het
Slc29a1 A G 17: 45,900,897 (GRCm39) M89T possibly damaging Het
Slco4a1 T A 2: 180,113,856 (GRCm39) V431E possibly damaging Het
Smg1 C T 7: 117,752,131 (GRCm39) C2698Y unknown Het
Sptlc2 C T 12: 87,397,151 (GRCm39) D212N probably benign Het
St6galnac1 T C 11: 116,657,899 (GRCm39) T334A possibly damaging Het
Stim2 A T 5: 54,156,263 (GRCm39) D13V possibly damaging Het
Syne1 A G 10: 5,181,592 (GRCm39) W4248R probably damaging Het
Tanc1 T C 2: 59,627,953 (GRCm39) Y584H probably benign Het
Thoc6 C A 17: 23,892,634 (GRCm39) probably null Het
Trim30a T A 7: 104,078,533 (GRCm39) N181I possibly damaging Het
Trip11 T A 12: 101,850,329 (GRCm39) Q1245L probably damaging Het
Tshz3 A G 7: 36,469,994 (GRCm39) D661G probably benign Het
Ttll8 C A 15: 88,799,630 (GRCm39) V604L probably damaging Het
Ubtfl1 A G 9: 18,320,931 (GRCm39) D153G probably damaging Het
Ufsp2 C A 8: 46,436,661 (GRCm39) N137K probably benign Het
Ugt2a3 A G 5: 87,473,393 (GRCm39) I508T possibly damaging Het
Uso1 G A 5: 92,306,324 (GRCm39) E94K probably benign Het
Usp54 A G 14: 20,611,310 (GRCm39) S1169P probably benign Het
Vmn1r235 C T 17: 21,482,292 (GRCm39) P206S probably benign Het
Vmn1r69 T C 7: 10,314,995 (GRCm39) probably benign Het
Zfp263 T A 16: 3,567,255 (GRCm39) C523* probably null Het
Zfp799 G T 17: 33,039,210 (GRCm39) T352K probably benign Het
Zfr T A 15: 12,180,724 (GRCm39) V951E probably damaging Het
Zswim9 C A 7: 12,993,664 (GRCm39) A831S 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
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'- GCAGCCACGTCTAGACTAATCTC -3'
(R):5'- TCCTTCAAGGTGAATAAATGCCATC -3'

Sequencing Primer
(F):5'- TCTCATACTGCAGGAGACATGTG -3'
(R):5'- AATGCCATCTTTTATCCTAGACCTAG -3'
Posted On 2019-05-15