Incidental Mutation 'IGL01593:Atp6v1e2'
ID91650
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp6v1e2
Ensembl Gene ENSMUSG00000053375
Gene NameATPase, H+ transporting, lysosomal V1 subunit E2
SynonymsE1, Atp6e1, 4930500C14Rik, lysosomal 31kDa
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.203) question?
Stock #IGL01593
Quality Score
Status
Chromosome17
Chromosomal Location86944109-86947887 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 86944299 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 224 (F224I)
Ref Sequence ENSEMBL: ENSMUSP00000065285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065758]
Predicted Effect probably damaging
Transcript: ENSMUST00000065758
AA Change: F224I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000065285
Gene: ENSMUSG00000053375
AA Change: F224I

DomainStartEndE-ValueType
Pfam:vATP-synt_E 18 216 1e-67 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A T 8: 86,557,650 I310N probably damaging Het
Ackr4 C T 9: 104,085,931 probably benign Het
Ankib1 A T 5: 3,732,590 D346E probably benign Het
Armc4 T C 18: 7,127,345 K956R probably benign Het
Asap2 G T 12: 21,213,202 A273S probably null Het
Atp6v0d2 C A 4: 19,881,436 R219L probably damaging Het
Bnc2 T C 4: 84,276,241 probably null Het
Btbd11 T A 10: 85,654,475 probably benign Het
Cd33 A G 7: 43,530,281 L241P possibly damaging Het
Clec4g A T 8: 3,719,474 probably null Het
Dym C T 18: 75,114,781 probably benign Het
Enpp5 A G 17: 44,080,721 T14A probably benign Het
Ggt1 T C 10: 75,585,287 probably null Het
Gm17541 T A 12: 4,689,868 probably benign Het
Gpr39 A T 1: 125,677,451 I39F probably benign Het
Kcnb1 G T 2: 167,106,207 F240L probably damaging Het
Kcnt1 T A 2: 25,898,754 V400E probably damaging Het
Klhdc7a A G 4: 139,966,814 I274T probably damaging Het
Lrwd1 A T 5: 136,134,629 L71Q probably damaging Het
Mycbp2 A T 14: 103,291,287 probably null Het
Nckap1 A T 2: 80,520,570 M725K probably benign Het
Olfr1535 T A 13: 21,555,219 I268F probably damaging Het
Pole2 C T 12: 69,223,099 probably null Het
Prss32 A G 17: 23,856,008 T111A probably benign Het
Rgs9 A G 11: 109,249,049 probably benign Het
Slc2a4 A G 11: 69,944,828 C361R probably damaging Het
Ston1 G A 17: 88,637,010 G615R probably null Het
Tas2r139 T G 6: 42,140,957 W8G probably benign Het
Tmem101 A T 11: 102,155,878 L55Q probably damaging Het
Tnni3k T C 3: 154,941,029 probably null Het
Uba2 A G 7: 34,146,264 V478A probably damaging Het
Vps13a T C 19: 16,762,181 D52G probably damaging Het
Other mutations in Atp6v1e2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02016:Atp6v1e2 APN 17 86944394 missense probably damaging 1.00
IGL02706:Atp6v1e2 APN 17 86944934 missense probably damaging 1.00
R0505:Atp6v1e2 UTSW 17 86944578 missense probably benign 0.04
R4749:Atp6v1e2 UTSW 17 86944707 missense probably benign 0.10
R4819:Atp6v1e2 UTSW 17 86944538 missense probably benign 0.38
R5829:Atp6v1e2 UTSW 17 86944716 missense probably benign 0.01
R7010:Atp6v1e2 UTSW 17 86944345 missense probably benign 0.05
R7726:Atp6v1e2 UTSW 17 86944385 missense probably damaging 1.00
Posted On2013-12-09