Incidental Mutation 'IGL01447:Atp6v1e1'
ID 84485
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp6v1e1
Ensembl Gene ENSMUSG00000019210
Gene Name ATPase, H+ transporting, lysosomal V1 subunit E1
Synonyms lysosomal 31kDa, H+ ATPase subunit E, Atp6v1e, 2410029D23Rik, Atp6e2, Atp6e, E2, D6Ertd385e, H(+)-ATPase E-like protein
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01447
Quality Score
Status
Chromosome 6
Chromosomal Location 120772205-120799659 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to C at 120772654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145324 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019354] [ENSMUST00000112682] [ENSMUST00000203783]
AlphaFold P50518
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 benign
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apbb1ip T G 2: 22,743,194 (GRCm39) I342S probably damaging Het
Armh4 A T 14: 50,005,923 (GRCm39) S591T probably damaging Het
Brwd1 A T 16: 95,848,579 (GRCm39) C533* probably null Het
Cacna2d4 A G 6: 119,219,865 (GRCm39) S212G probably damaging Het
Ccn5 A G 2: 163,670,942 (GRCm39) R150G probably damaging Het
Cit T C 5: 116,011,902 (GRCm39) probably benign Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Cmklr1 T C 5: 113,752,282 (GRCm39) T240A probably benign Het
D630003M21Rik T C 2: 158,059,276 (GRCm39) D208G probably benign Het
Egr3 C A 14: 70,316,732 (GRCm39) P143Q probably damaging Het
Fbxw18 T A 9: 109,530,675 (GRCm39) S41C probably damaging Het
Focad T A 4: 88,244,465 (GRCm39) I815N unknown Het
Heatr5b T C 17: 79,137,026 (GRCm39) T165A probably benign Het
Iqub G T 6: 24,505,627 (GRCm39) L94I probably benign Het
Lrrc32 T C 7: 98,147,583 (GRCm39) L121P probably damaging Het
Mansc1 G A 6: 134,594,289 (GRCm39) L118F probably damaging Het
Mtor A G 4: 148,615,214 (GRCm39) H1693R possibly damaging Het
Muc5b A G 7: 141,416,831 (GRCm39) Q3259R probably benign Het
Nmnat2 A G 1: 152,988,189 (GRCm39) S273G possibly damaging Het
Npr2 T C 4: 43,640,554 (GRCm39) C336R possibly damaging Het
Or10al6 C T 17: 38,083,122 (GRCm39) L193F probably damaging Het
Or1f19 A G 16: 3,410,848 (GRCm39) N196S possibly damaging Het
Or1j11 A T 2: 36,311,466 (GRCm39) I19F probably damaging Het
Or56b1b A G 7: 108,164,216 (GRCm39) V262A possibly damaging Het
Or5aq1 A T 2: 86,966,343 (GRCm39) Y107* probably null Het
Or5d36 T C 2: 87,901,468 (GRCm39) N86S possibly damaging Het
Rad54l2 C T 9: 106,579,971 (GRCm39) A967T probably damaging Het
Rspo1 T C 4: 124,898,829 (GRCm39) V50A possibly damaging Het
Sar1b C T 11: 51,682,274 (GRCm39) probably benign Het
Scamp1 C T 13: 94,340,530 (GRCm39) A280T probably damaging Het
Spcs2 A G 7: 99,488,911 (GRCm39) I251T probably benign Het
Sspo G T 6: 48,441,600 (GRCm39) probably null Het
Tpm2 T A 4: 43,518,251 (GRCm39) K251* probably null Het
Ttn A G 2: 76,571,250 (GRCm39) S26548P probably damaging Het
Ugcg T G 4: 59,213,865 (GRCm39) V149G possibly damaging Het
Unc79 T A 12: 103,045,177 (GRCm39) N784K probably damaging Het
Vit A G 17: 78,932,633 (GRCm39) D580G probably damaging Het
Vmn1r83 T C 7: 12,055,424 (GRCm39) K211R probably benign Het
Zbtb3 A G 19: 8,781,680 (GRCm39) Y431C probably damaging Het
Zfp608 T C 18: 55,032,083 (GRCm39) D619G possibly damaging Het
Other mutations in Atp6v1e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01020:Atp6v1e1 APN 6 120,785,372 (GRCm39) missense possibly damaging 0.92
IGL01387:Atp6v1e1 APN 6 120,772,732 (GRCm39) splice site probably null
IGL02372:Atp6v1e1 APN 6 120,778,084 (GRCm39) missense probably benign 0.00
R0595:Atp6v1e1 UTSW 6 120,778,091 (GRCm39) missense probably benign 0.02
R3801:Atp6v1e1 UTSW 6 120,778,020 (GRCm39) missense probably benign 0.02
R4897:Atp6v1e1 UTSW 6 120,781,044 (GRCm39) missense probably null 0.88
R5291:Atp6v1e1 UTSW 6 120,795,294 (GRCm39) critical splice donor site probably null
R5690:Atp6v1e1 UTSW 6 120,785,317 (GRCm39) splice site probably null
R6726:Atp6v1e1 UTSW 6 120,781,011 (GRCm39) critical splice donor site probably null
R7080:Atp6v1e1 UTSW 6 120,799,350 (GRCm39) intron probably benign
Z1176:Atp6v1e1 UTSW 6 120,799,410 (GRCm39) intron probably benign
Z1176:Atp6v1e1 UTSW 6 120,781,080 (GRCm39) missense probably benign 0.35
Posted On 2013-11-11