Incidental Mutation 'R5690:Atp6v1e1'
ID443622
Institutional Source Beutler Lab
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
MMRRC Submission 043323-MU
Accession Numbers

Genbank: NM_007510; MGI: 894326 

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5690 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location120794305-120822793 bp(-) (GRCm38)
Type of Mutationsplice site (6 bp from exon)
DNA Base Change (assembly) A to T at 120808356 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019354] [ENSMUST00000203783] [ENSMUST00000203783] [ENSMUST00000204699] [ENSMUST00000204699] [ENSMUST00000205049] [ENSMUST00000205049]
Predicted Effect probably null
Transcript: ENSMUST00000019354
SMART Domains Protein: ENSMUSP00000019354
Gene: ENSMUSG00000019210

DomainStartEndE-ValueType
Pfam:vATP-synt_E 18 216 7.6e-80 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203432
Predicted Effect probably null
Transcript: ENSMUST00000203783
SMART Domains Protein: ENSMUSP00000145324
Gene: ENSMUSG00000019210

DomainStartEndE-ValueType
Pfam:vATP-synt_E 7 118 2.5e-39 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000203783
SMART Domains Protein: ENSMUSP00000145324
Gene: ENSMUSG00000019210

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

DomainStartEndE-ValueType
Pfam:vATP-synt_E 4 78 4.6e-29 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000204699
SMART Domains Protein: ENSMUSP00000145437
Gene: ENSMUSG00000019210

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

DomainStartEndE-ValueType
Pfam:vATP-synt_E 5 87 1e-26 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000205049
SMART Domains Protein: ENSMUSP00000145353
Gene: ENSMUSG00000019210

DomainStartEndE-ValueType
Pfam:vATP-synt_E 5 87 1e-26 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.3%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008F13Rik G A 2: 156,865,314 V58I probably benign Het
2810474O19Rik T C 6: 149,328,237 L927S possibly damaging Het
4930533K18Rik A G 10: 70,923,314 probably benign Het
Acadl T C 1: 66,853,286 Y126C probably damaging Het
Ak6 A G 13: 100,655,621 probably null Het
Ap1s1 ATCCTCCTCCTCCTCCTCCTC ATCCTCCTCCTCCTCCTC 5: 137,037,379 probably benign Het
Aqp7 G A 4: 41,035,510 T115I probably benign Het
Axin1 A G 17: 26,194,937 Y792C probably damaging Het
C1s2 T C 6: 124,631,037 N233S probably benign Het
Ccer2 C A 7: 28,756,204 probably benign Het
Cfap46 A G 7: 139,638,353 S1481P probably benign Het
Cspg4 A T 9: 56,898,735 T2277S probably benign Het
Ctsl T A 13: 64,365,208 N300I probably damaging Het
Dnah2 T C 11: 69,491,544 I1247V probably benign Het
Dsg3 A T 18: 20,522,051 Q135L probably benign Het
Efcab14 G A 4: 115,760,047 V318M possibly damaging Het
Etl4 G A 2: 20,805,836 S910N probably benign Het
Fetub C T 16: 22,932,331 R143C probably damaging Het
Frmd4b T C 6: 97,353,203 E133G possibly damaging Het
Herc2 T C 7: 56,157,705 F2514S probably benign Het
Il18rap A G 1: 40,537,112 D261G possibly damaging Het
Klk1b16 A G 7: 44,140,894 probably null Het
Lrp1b A C 2: 40,750,894 probably null Het
Mrpl45 C A 11: 97,321,586 probably benign Het
Myh13 A G 11: 67,329,275 E150G probably damaging Het
Nbas T A 12: 13,336,284 V737D probably damaging Het
Ncr1 T C 7: 4,338,297 Y59H probably damaging Het
Nt5c1a T A 4: 123,215,939 V277E probably damaging Het
Ogfod1 T A 8: 94,058,141 S343T probably damaging Het
Otogl G A 10: 107,777,117 silent Het
Pcdhb18 G A 18: 37,490,484 R289Q probably benign Het
Pnpla1 A T 17: 28,878,372 I171F probably damaging Het
Rdh8 A G 9: 20,825,489 N259S probably damaging Het
Slc22a12 A G 19: 6,536,848 M496T probably benign Het
Slc8b1 G A 5: 120,513,205 W10* probably null Het
Smarcc2 G A 10: 128,484,407 G887S probably damaging Het
Smc1b A G 15: 85,112,773 S549P probably damaging Het
Synj2 A G 17: 6,035,527 M1181V probably benign Het
Tbx15 T C 3: 99,308,850 S76P probably damaging Het
Tbx2 A T 11: 85,837,053 I271F probably damaging Het
Thap4 A G 1: 93,716,630 probably null Het
Tmc2 A G 2: 130,232,386 Y333C probably damaging Het
Trcg1 C T 9: 57,241,811 P222L probably benign Het
Tubb3 T C 8: 123,421,306 V326A probably benign Het
Unc80 A C 1: 66,640,572 I2101L probably benign Het
Vmn1r19 T C 6: 57,404,795 L111S probably benign Het
Vps16 C T 2: 130,439,091 Q226* probably null Het
Xpo4 T C 14: 57,590,989 I805V probably benign Het
Other mutations in Atp6v1e1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01020:Atp6v1e1 APN 6 120808411 missense possibly damaging 0.92
IGL01387:Atp6v1e1 APN 6 120795771 unclassified probably null
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
R6726:Atp6v1e1 UTSW 6 120804050 critical splice donor site probably null
R7080:Atp6v1e1 UTSW 6 120822389 intron probably benign
Z1176:Atp6v1e1 UTSW 6 120804119 missense probably benign 0.35
Z1176:Atp6v1e1 UTSW 6 120822449 intron probably benign
Predicted Primers PCR Primer
(F):5'- TGGCCTGGTTTCATTGACTTAAAG -3'
(R):5'- TCCTGGTTCCTGGGAGATAC -3'

Sequencing Primer
(F):5'- CTCAATGACTGAGGACGTAGCTC -3'
(R):5'- CCTGGTTCCTGGGAGATACAAATAC -3'
Posted On2016-11-09