Incidental Mutation 'IGL01387:Atp6v1e1'
ID79096
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp6v1e1
Ensembl Gene ENSMUSG00000019210
Gene NameATPase, H+ transporting, lysosomal V1 subunit E1
Synonyms2410029D23Rik, E2, Atp6e2, Atp6e, H+ ATPase subunit E, H(+)-ATPase E-like protein, Atp6v1e, lysosomal 31kDa, D6Ertd385e
Accession Numbers

Genbank: NM_007510; MGI: 894326 

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01387
Quality Score
Status
Chromosome6
Chromosomal Location120794305-120822793 bp(-) (GRCm38)
Type of Mutationunclassified (1435 bp from exon)
DNA Base Change (assembly) A to G at 120795771 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019354] [ENSMUST00000112682] [ENSMUST00000203783]
Predicted Effect probably benign
Transcript: ENSMUST00000019354
SMART Domains Protein: ENSMUSP00000019354
Gene: ENSMUSG00000019210

DomainStartEndE-ValueType
Pfam:vATP-synt_E 18 216 7.6e-80 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000112682
SMART Domains Protein: ENSMUSP00000108302
Gene: ENSMUSG00000004902

DomainStartEndE-ValueType
Pfam:Mito_carr 9 102 6.8e-27 PFAM
Pfam:Mito_carr 104 218 1.2e-17 PFAM
Pfam:Mito_carr 222 310 7.9e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176615
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203527
Predicted Effect probably benign
Transcript: ENSMUST00000203783
SMART Domains Protein: ENSMUSP00000145324
Gene: ENSMUSG00000019210

DomainStartEndE-ValueType
Pfam:vATP-synt_E 7 118 2.5e-39 PFAM
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 component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. This gene encodes alternate transcriptional splice variants, encoding different V1 domain E subunit isoforms. Pseudogenes for this gene have been found in the genome. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(18) : Gene trapped(18)

Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,999,762 I288T possibly damaging Het
Akr1c13 T A 13: 4,197,795 probably null Het
Ano2 T C 6: 126,013,277 L787P probably damaging Het
Arf4 A T 14: 26,653,145 I73F possibly damaging Het
Ccdc9 A C 7: 16,284,499 M1R probably null Het
Cep162 A G 9: 87,211,811 L838S probably benign Het
Cfi T A 3: 129,874,913 probably benign Het
Creb3l3 T C 10: 81,091,276 T107A probably benign Het
Erlin2 T C 8: 27,036,548 L312P probably benign Het
Etv1 T G 12: 38,861,327 M384R probably damaging Het
Exph5 G T 9: 53,373,965 S782I possibly damaging Het
Fsd1 C T 17: 55,996,733 S491F probably damaging Het
Fsip2 A G 2: 82,992,982 N6353S possibly damaging Het
Gk5 T C 9: 96,177,554 probably null Het
Gm11168 T G 9: 3,005,128 S202R possibly damaging Het
Hdlbp T C 1: 93,413,588 D1016G possibly damaging Het
Kpna4 A G 3: 69,102,257 probably benign Het
Lrrn2 T C 1: 132,938,358 V387A possibly damaging Het
Olfr1084 T C 2: 86,639,250 T153A probably benign Het
Olfr1249 T A 2: 89,630,620 R93* probably null Het
Olfr1350 A G 7: 6,570,855 Y288C probably damaging Het
Olfr820 T A 10: 130,017,841 M160K probably damaging Het
Olfr937 A G 9: 39,060,321 L115S probably damaging Het
Plekhs1 A G 19: 56,470,971 Q51R probably benign Het
Rab27b T A 18: 69,985,309 D179V possibly damaging Het
Rprd2 C T 3: 95,765,319 R924H probably benign Het
Shprh T C 10: 11,170,254 I905T probably damaging Het
Trpm8 T C 1: 88,343,287 L433P probably damaging Het
Urb1 A G 16: 90,757,761 L1861S possibly damaging Het
Vmn2r124 C A 17: 18,062,926 T294K probably damaging Het
Wdr66 T A 5: 123,283,546 I654N probably damaging Het
Znrf3 A T 11: 5,338,656 C37* probably null Het
Other mutations in Atp6v1e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01020:Atp6v1e1 APN 6 120808411 missense possibly damaging 0.92
IGL01447:Atp6v1e1 APN 6 120795693 utr 3 prime probably benign
IGL02372:Atp6v1e1 APN 6 120801123 missense probably benign 0.00
R0595:Atp6v1e1 UTSW 6 120801130 missense probably benign 0.02
R3801:Atp6v1e1 UTSW 6 120801059 missense probably benign 0.02
R4897:Atp6v1e1 UTSW 6 120804083 missense probably null 0.88
R5291:Atp6v1e1 UTSW 6 120818333 critical splice donor site probably null
R5690:Atp6v1e1 UTSW 6 120808356 splice site probably null
R6726:Atp6v1e1 UTSW 6 120804050 critical splice donor site probably null
R7080:Atp6v1e1 UTSW 6 120822389 intron probably benign
Posted On2013-11-05