Incidental Mutation 'IGL01642:Zfyve26'
ID93719
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zfyve26
Ensembl Gene ENSMUSG00000066440
Gene Namezinc finger, FYVE domain containing 26
SynonymsA630028O16Rik, LOC380767, 9330197E15Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01642
Quality Score
Status
Chromosome12
Chromosomal Location79232346-79296304 bp(-) (GRCm38)
Type of Mutationsplice site (4 bp from exon)
DNA Base Change (assembly) T to C at 79261574 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021547] [ENSMUST00000218377] [ENSMUST00000219912]
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 noncoding transcript
Transcript: ENSMUST00000217723
Predicted Effect probably benign
Transcript: ENSMUST00000218377
Predicted Effect probably null
Transcript: ENSMUST00000219912
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220092
Coding Region Coverage
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aanat A G 11: 116,595,688 T18A possibly damaging Het
Abat A T 16: 8,600,919 I126F possibly damaging Het
Adcy6 G A 15: 98,594,509 A958V possibly damaging Het
Ago2 T C 15: 73,123,390 I447V probably benign Het
Arid1a A G 4: 133,681,844 V1784A unknown Het
Atp1b1 A G 1: 164,457,761 F33L probably benign Het
Bpnt1 G A 1: 185,354,041 V198I probably benign Het
C87414 A G 5: 93,636,295 Y437H possibly damaging Het
Clip3 G A 7: 30,298,862 M244I probably benign Het
Clip3 A T 7: 30,297,069 probably benign Het
Cyp2a22 A T 7: 26,938,759 N107K possibly damaging Het
Cyp2c23 A T 19: 44,005,556 L457Q probably damaging Het
Dbr1 A G 9: 99,575,978 Y17C probably damaging Het
Drc7 G A 8: 95,059,139 V208I probably benign Het
Dst T A 1: 34,189,389 L2021Q probably damaging Het
E2f4 C A 8: 105,301,336 P299T probably damaging Het
Eef1b2 T C 1: 63,177,831 L53P probably damaging Het
Enpp3 T C 10: 24,798,269 T378A probably damaging Het
Eps15 A G 4: 109,366,473 N302S probably benign Het
Esrrg G A 1: 188,210,915 V362M probably benign Het
Gcc2 T A 10: 58,280,612 N1014K probably benign Het
Gm3099 T A 14: 4,000,508 M114K possibly damaging Het
Gnptab C T 10: 88,436,132 T928I possibly damaging Het
Gpd2 A T 2: 57,268,071 R31* probably null Het
Impdh1 T C 6: 29,207,166 T60A possibly damaging Het
Kcnab3 A G 11: 69,330,430 E191G probably benign Het
Kcnh5 A G 12: 74,965,169 S659P probably damaging Het
Kl T C 5: 150,980,869 I362T possibly damaging Het
Kpna4 A G 3: 69,085,784 V414A probably damaging Het
Magi1 G A 6: 93,686,624 P1111S possibly damaging Het
Mb21d1 G A 9: 78,437,398 P247L probably damaging Het
Myo18a A G 11: 77,864,732 D1965G probably benign Het
Nadsyn1 G A 7: 143,797,878 P673S probably damaging Het
Naip2 A G 13: 100,160,937 S864P probably damaging Het
Olfr1330 A G 4: 118,893,461 Y126C probably damaging Het
Olfr453 G T 6: 42,744,552 V172L probably benign Het
Olfr715b A T 7: 107,106,822 I13N possibly damaging Het
Paics T A 5: 76,961,510 probably benign Het
Papss1 G T 3: 131,583,235 probably benign Het
Pax3 A G 1: 78,196,663 probably null Het
Pgbd5 T G 8: 124,384,202 Q159P probably benign Het
Pkd1 A G 17: 24,581,292 Y3009C probably damaging Het
Pla2g4d T C 2: 120,280,636 T161A probably damaging Het
Podxl2 T A 6: 88,843,547 Y521F probably damaging Het
Prmt2 C T 10: 76,222,493 G161S probably damaging Het
Rft1 C T 14: 30,676,868 T265I probably damaging Het
Rims2 T A 15: 39,457,796 L736M probably damaging Het
Slf1 C T 13: 77,049,915 A747T probably benign Het
Snx2 A G 18: 53,216,447 K427E probably damaging Het
Tmem131l A T 3: 83,938,050 D424E possibly damaging Het
Tmem2 T A 19: 21,823,901 I794N probably damaging Het
Tnxb A G 17: 34,718,514 T3826A probably damaging Het
Tpp2 T C 1: 43,954,653 Y233H probably damaging Het
Ubl4b C A 3: 107,554,831 E38* probably null Het
Usp5 A T 6: 124,820,453 I486N probably damaging Het
Vmn1r193 A C 13: 22,219,624 L66R probably damaging Het
Vps13b T C 15: 35,792,072 I2162T probably benign Het
Wdr66 T C 5: 123,288,698 V383A possibly damaging Het
Wipf2 T C 11: 98,890,824 V63A probably benign Het
Zfp735 G T 11: 73,710,479 C83F possibly damaging Het
Other mutations in Zfyve26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Zfyve26 APN 12 79249460 unclassified probably benign
IGL00940:Zfyve26 APN 12 79280900 missense probably benign
IGL01148:Zfyve26 APN 12 79260870 missense probably benign 0.01
IGL01347:Zfyve26 APN 12 79252183 intron probably null
IGL01472:Zfyve26 APN 12 79276343 missense probably benign 0.01
IGL01490:Zfyve26 APN 12 79244373 missense probably damaging 1.00
IGL01516:Zfyve26 APN 12 79287851 missense probably benign 0.37
IGL01689:Zfyve26 APN 12 79284053 missense possibly damaging 0.71
IGL01877:Zfyve26 APN 12 79287444 missense probably damaging 1.00
IGL01997:Zfyve26 APN 12 79244400 missense probably benign 0.00
IGL02077:Zfyve26 APN 12 79276395 missense possibly damaging 0.54
IGL02437:Zfyve26 APN 12 79268847 missense probably benign 0.01
IGL02933:Zfyve26 APN 12 79280080 missense possibly damaging 0.94
IGL02937:Zfyve26 APN 12 79239020 missense probably benign 0.08
IGL02982:Zfyve26 APN 12 79263870 missense probably damaging 0.99
IGL03064:Zfyve26 APN 12 79261791 missense probably damaging 1.00
IGL03086:Zfyve26 APN 12 79295564 missense probably damaging 0.96
IGL03146:Zfyve26 APN 12 79284072 nonsense probably null
IGL02799:Zfyve26 UTSW 12 79273310 missense probably benign 0.28
R0318:Zfyve26 UTSW 12 79276281 missense probably damaging 1.00
R0513:Zfyve26 UTSW 12 79244484 missense probably damaging 1.00
R0582:Zfyve26 UTSW 12 79246222 missense probably damaging 1.00
R0586:Zfyve26 UTSW 12 79268728 missense possibly damaging 0.96
R0718:Zfyve26 UTSW 12 79265802 splice site probably benign
R0738:Zfyve26 UTSW 12 79295534 missense probably damaging 1.00
R0781:Zfyve26 UTSW 12 79280067 missense probably damaging 0.99
R0894:Zfyve26 UTSW 12 79273598 missense possibly damaging 0.80
R1109:Zfyve26 UTSW 12 79272127 missense probably damaging 1.00
R1110:Zfyve26 UTSW 12 79280067 missense probably damaging 0.99
R1186:Zfyve26 UTSW 12 79263949 missense probably damaging 1.00
R1295:Zfyve26 UTSW 12 79274920 missense probably damaging 1.00
R1430:Zfyve26 UTSW 12 79282817 missense probably benign 0.07
R1439:Zfyve26 UTSW 12 79252163 missense probably benign 0.03
R1517:Zfyve26 UTSW 12 79252151 missense probably damaging 0.98
R1553:Zfyve26 UTSW 12 79287761 missense probably benign 0.00
R1721:Zfyve26 UTSW 12 79261799 missense possibly damaging 0.94
R1758:Zfyve26 UTSW 12 79238944 missense probably damaging 1.00
R1779:Zfyve26 UTSW 12 79278463 missense probably damaging 1.00
R1785:Zfyve26 UTSW 12 79268434 missense possibly damaging 0.48
R1786:Zfyve26 UTSW 12 79268434 missense possibly damaging 0.48
R1826:Zfyve26 UTSW 12 79269049 missense probably damaging 1.00
R1833:Zfyve26 UTSW 12 79286258 missense probably benign 0.36
R1868:Zfyve26 UTSW 12 79261799 missense possibly damaging 0.94
R1900:Zfyve26 UTSW 12 79264351 missense probably damaging 1.00
R1928:Zfyve26 UTSW 12 79239970 nonsense probably null
R1982:Zfyve26 UTSW 12 79255243 missense possibly damaging 0.55
R2062:Zfyve26 UTSW 12 79284032 splice site probably null
R2071:Zfyve26 UTSW 12 79287446 missense possibly damaging 0.95
R2130:Zfyve26 UTSW 12 79268434 missense possibly damaging 0.48
R2132:Zfyve26 UTSW 12 79268434 missense possibly damaging 0.48
R2133:Zfyve26 UTSW 12 79268434 missense possibly damaging 0.48
R2135:Zfyve26 UTSW 12 79246052 missense possibly damaging 0.80
R2207:Zfyve26 UTSW 12 79246087 missense probably damaging 0.99
R2280:Zfyve26 UTSW 12 79275040 missense probably damaging 1.00
R2352:Zfyve26 UTSW 12 79284116 missense probably damaging 1.00
R2398:Zfyve26 UTSW 12 79282799 splice site probably null
R3084:Zfyve26 UTSW 12 79265683 splice site probably benign
R3086:Zfyve26 UTSW 12 79265683 splice site probably benign
R4626:Zfyve26 UTSW 12 79269070 missense possibly damaging 0.95
R4727:Zfyve26 UTSW 12 79244396 missense probably benign 0.16
R4908:Zfyve26 UTSW 12 79249695 intron probably null
R4926:Zfyve26 UTSW 12 79275011 missense probably benign
R4990:Zfyve26 UTSW 12 79287833 missense probably damaging 1.00
R4999:Zfyve26 UTSW 12 79280385 nonsense probably null
R5029:Zfyve26 UTSW 12 79286323 missense probably damaging 0.99
R5070:Zfyve26 UTSW 12 79255361 missense probably damaging 1.00
R5100:Zfyve26 UTSW 12 79280058 nonsense probably null
R5252:Zfyve26 UTSW 12 79268982 missense probably damaging 1.00
R5318:Zfyve26 UTSW 12 79270850 missense probably benign 0.35
R5509:Zfyve26 UTSW 12 79246521 missense probably damaging 1.00
R5574:Zfyve26 UTSW 12 79239924 missense possibly damaging 0.63
R5735:Zfyve26 UTSW 12 79273373 missense probably damaging 0.96
R5756:Zfyve26 UTSW 12 79264357 missense probably damaging 1.00
R5773:Zfyve26 UTSW 12 79287737 missense probably damaging 1.00
R5834:Zfyve26 UTSW 12 79266537 missense probably benign 0.30
R6075:Zfyve26 UTSW 12 79293854 missense possibly damaging 0.74
R6184:Zfyve26 UTSW 12 79268727 missense probably damaging 0.98
R6235:Zfyve26 UTSW 12 79249599 missense probably damaging 1.00
R6247:Zfyve26 UTSW 12 79282984 missense probably benign 0.04
R6320:Zfyve26 UTSW 12 79240002 missense probably damaging 0.97
R6548:Zfyve26 UTSW 12 79238335 missense probably damaging 1.00
R6887:Zfyve26 UTSW 12 79266449 missense probably damaging 1.00
R7133:Zfyve26 UTSW 12 79284152 missense probably benign 0.06
R7152:Zfyve26 UTSW 12 79279114 missense probably benign 0.42
R7165:Zfyve26 UTSW 12 79280405 missense probably damaging 1.00
R7181:Zfyve26 UTSW 12 79268408 missense probably benign 0.00
R7223:Zfyve26 UTSW 12 79246171 missense probably damaging 0.99
R7299:Zfyve26 UTSW 12 79282984 missense probably benign 0.01
R7301:Zfyve26 UTSW 12 79282984 missense probably benign 0.01
R7302:Zfyve26 UTSW 12 79251168 missense probably damaging 1.00
R7355:Zfyve26 UTSW 12 79240054 missense probably damaging 1.00
R7466:Zfyve26 UTSW 12 79287807 missense probably benign 0.00
R7540:Zfyve26 UTSW 12 79268676 missense probably damaging 0.99
R7552:Zfyve26 UTSW 12 79290957 missense probably damaging 0.97
X0020:Zfyve26 UTSW 12 79239005 missense probably damaging 1.00
Posted On2013-12-09