Incidental Mutation 'R7080:Atp6v1e1'
ID 568351
Institutional Source Beutler Lab
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
MMRRC Submission 045174-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7080 (G1)
Quality Score 59.0078
Status Validated
Chromosome 6
Chromosomal Location 120772205-120799659 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to A at 120799350 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019354] [ENSMUST00000203783] [ENSMUST00000204699] [ENSMUST00000205049]
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: ENSMUST00000203783
SMART Domains Protein: ENSMUSP00000145324
Gene: ENSMUSG00000019210

DomainStartEndE-ValueType
Pfam:vATP-synt_E 7 118 2.5e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204699
SMART Domains Protein: ENSMUSP00000145437
Gene: ENSMUSG00000019210

DomainStartEndE-ValueType
Pfam:vATP-synt_E 4 78 4.6e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205049
SMART Domains Protein: ENSMUSP00000145353
Gene: ENSMUSG00000019210

DomainStartEndE-ValueType
Pfam:vATP-synt_E 5 87 1e-26 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 94% (47/50)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,336,116 (GRCm39) E2162G probably benign Het
Ackr4 A G 9: 103,976,761 (GRCm39) V62A probably damaging Het
Atox1 T A 11: 55,341,365 (GRCm39) K57* probably null Het
Bmpr2 T C 1: 59,906,842 (GRCm39) V645A probably benign Het
Brwd1 T C 16: 95,810,730 (GRCm39) T1602A probably benign Het
Cdc42bpg T C 19: 6,365,219 (GRCm39) V692A probably damaging Het
Cdca2 T C 14: 67,935,551 (GRCm39) D388G probably damaging Het
Celsr1 G A 15: 85,816,652 (GRCm39) R1764C possibly damaging Het
Copz2 G T 11: 96,747,538 (GRCm39) V174L probably benign Het
Dnaaf1 T C 8: 120,309,335 (GRCm39) L141P probably damaging Het
Fam170a T A 18: 50,413,740 (GRCm39) probably null Het
Fshr A T 17: 89,404,539 (GRCm39) probably null Het
Gbx1 C T 5: 24,731,298 (GRCm39) A173T probably benign Het
Gm3604 G A 13: 62,518,109 (GRCm39) A83V probably damaging Het
Gpr19 A T 6: 134,847,419 (GRCm39) V88D probably damaging Het
Hnrnpd C T 5: 100,124,392 (GRCm39) probably null Het
Homez T C 14: 55,095,112 (GRCm39) S199G probably benign Het
Kit T C 5: 75,767,941 (GRCm39) I108T probably damaging Het
Lrrc34 A C 3: 30,688,705 (GRCm39) Y199D probably damaging Het
Mapk12 T C 15: 89,017,350 (GRCm39) D208G probably damaging Het
Mon1a A G 9: 107,778,985 (GRCm39) D403G probably damaging Het
Myo1d C T 11: 80,565,460 (GRCm39) E426K probably damaging Het
Nol11 G A 11: 107,070,878 (GRCm39) T307I probably damaging Het
Or10d5 A G 9: 39,861,444 (GRCm39) C208R probably damaging Het
Or52b4 A T 7: 102,184,172 (GRCm39) I73F possibly damaging Het
Or5aq1b A G 2: 86,902,083 (GRCm39) Y132H probably damaging Het
Or6d15 A T 6: 116,559,314 (GRCm39) F198I probably damaging Het
Or8k28 A T 2: 86,285,835 (GRCm39) L260* probably null Het
Pcdhb16 C T 18: 37,611,516 (GRCm39) Q159* probably null Het
Phf19 G A 2: 34,788,724 (GRCm39) probably null Het
Qrfpr C T 3: 36,234,198 (GRCm39) R381H probably benign Het
Rad51ap2 A G 12: 11,506,366 (GRCm39) D96G probably benign Het
Ranbp1 T C 16: 18,063,097 (GRCm39) D93G possibly damaging Het
Reep1 A G 6: 71,757,749 (GRCm39) D116G possibly damaging Het
Rinl T C 7: 28,496,101 (GRCm39) C361R probably damaging Het
Rps6kb1 T C 11: 86,397,666 (GRCm39) D393G probably damaging Het
Slc2a12 T C 10: 22,541,216 (GRCm39) V357A probably benign Het
Spryd3 T C 15: 102,026,627 (GRCm39) D348G probably benign Het
Syne2 G A 12: 76,099,501 (GRCm39) A569T probably benign Het
Tcstv5 T C 13: 120,411,270 (GRCm39) D112G probably benign Het
Thoc6 C T 17: 23,892,503 (GRCm39) R6Q probably null Het
Tyw3 G C 3: 154,299,426 (GRCm39) S94R probably benign Het
Unc13b C T 4: 43,171,926 (GRCm39) T918I unknown Het
Unc80 A T 1: 66,685,680 (GRCm39) H2268L possibly damaging Het
Urod C T 4: 116,849,838 (GRCm39) A187T probably damaging Het
Usp46 G T 5: 74,177,344 (GRCm39) N205K probably benign Het
Wapl T C 14: 34,414,313 (GRCm39) F392L probably benign Het
Zim1 T C 7: 6,680,305 (GRCm39) T453A 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
IGL01447:Atp6v1e1 APN 6 120,772,654 (GRCm39) utr 3 prime probably benign
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
Z1176:Atp6v1e1 UTSW 6 120,799,410 (GRCm39) intron probably benign
Z1176:Atp6v1e1 UTSW 6 120,781,080 (GRCm39) missense probably benign 0.35
Predicted Primers PCR Primer
(F):5'- AACGCAAGCTGCTCTTTCCC -3'
(R):5'- TCAGCGATGCAGATGTACAG -3'

Sequencing Primer
(F):5'- CTTTCCTGTACTATAGTGAAATAGCG -3'
(R):5'- CAGGTGAGGGCCAGGTTG -3'
Posted On 2019-07-03