Incidental Mutation 'R6729:Atp6v1f'
ID 529970
Institutional Source Beutler Lab
Gene Symbol Atp6v1f
Ensembl Gene ENSMUSG00000004285
Gene Name ATPase, H+ transporting, lysosomal V1 subunit F
Synonyms 1110004G16Rik
MMRRC Submission 044847-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R6729 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 29467782-29470508 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29467964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 50 (D50G)
Ref Sequence ENSEMBL: ENSMUSP00000004396 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004396] [ENSMUST00000149646] [ENSMUST00000171317]
AlphaFold Q9D1K2
Predicted Effect probably benign
Transcript: ENSMUST00000004396
AA Change: D50G

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000004396
Gene: ENSMUSG00000004285
AA Change: D50G

DomainStartEndE-ValueType
Pfam:ATP-synt_F 8 109 2.7e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143101
SMART Domains Protein: ENSMUSP00000116986
Gene: ENSMUSG00000004285

DomainStartEndE-ValueType
Pfam:ATP-synt_F 31 90 6.7e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149646
SMART Domains Protein: ENSMUSP00000145062
Gene: ENSMUSG00000004285

DomainStartEndE-ValueType
Pfam:ATP-synt_F 3 61 7e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171317
SMART Domains Protein: ENSMUSP00000127891
Gene: ENSMUSG00000090685

DomainStartEndE-ValueType
low complexity region 58 83 N/A INTRINSIC
Meta Mutation Damage Score 0.2404 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.4%
  • 20x: 95.5%
Validation Efficiency 100% (34/34)
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 and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is the V1 domain F subunit protein. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad12 A T 5: 121,745,998 (GRCm39) H230Q probably damaging Het
AI182371 G T 2: 34,974,717 (GRCm39) probably benign Het
Ank3 T C 10: 69,644,755 (GRCm39) V73A probably damaging Het
Apbb1 A T 7: 105,214,588 (GRCm39) M28K probably damaging Het
Bltp3b T A 10: 89,641,546 (GRCm39) S906T probably benign Het
Cdkal1 G A 13: 29,658,678 (GRCm39) T356M probably damaging Het
Clca3a1 A G 3: 144,711,727 (GRCm39) I756T probably damaging Het
Cplane1 T C 15: 8,218,085 (GRCm39) probably null Het
Cyp17a1 A G 19: 46,659,020 (GRCm39) V207A probably benign Het
Dnah7c A G 1: 46,711,681 (GRCm39) E2636G possibly damaging Het
Gm13090 A T 4: 151,174,085 (GRCm39) probably benign Het
Nceh1 T A 3: 27,295,420 (GRCm39) L227* probably null Het
Nedd9 A G 13: 41,469,278 (GRCm39) M625T probably damaging Het
Or10n1 A T 9: 39,525,069 (GRCm39) M69L probably benign Het
Or4d1 G A 11: 87,805,676 (GRCm39) Q19* probably null Het
Or4d10c T A 19: 12,065,860 (GRCm39) M99L probably benign Het
Or8b53 A G 9: 38,667,124 (GRCm39) I47V probably benign Het
Pcsk4 T C 10: 80,160,935 (GRCm39) N297S probably damaging Het
Psg21 T A 7: 18,386,516 (GRCm39) I157F probably damaging Het
Rabep2 T C 7: 126,039,369 (GRCm39) V294A probably benign Het
Rsph1 A G 17: 31,496,226 (GRCm39) S2P unknown Het
Sacs A G 14: 61,447,967 (GRCm39) K3338E probably damaging Het
Slc35f4 T G 14: 49,556,417 (GRCm39) N112T probably benign Het
Slc43a3 T C 2: 84,768,629 (GRCm39) F83L probably damaging Het
Slc6a15 T C 10: 103,229,775 (GRCm39) V154A probably damaging Het
Synj2 T A 17: 6,036,289 (GRCm39) M1K probably null Het
Tcp1 G A 17: 13,142,140 (GRCm39) R378Q probably damaging Het
Tead2 A G 7: 44,866,658 (GRCm39) T6A probably benign Het
Tpte G T 8: 22,845,491 (GRCm39) V514L probably damaging Het
Trpm6 A G 19: 18,807,661 (GRCm39) N1069D probably damaging Het
Vmn2r105 C A 17: 20,428,605 (GRCm39) G824C probably damaging Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zfp934 A T 13: 62,640,746 (GRCm39) N2K probably damaging Het
Other mutations in Atp6v1f
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4902:Atp6v1f UTSW 6 29,470,271 (GRCm39) unclassified probably benign
R5107:Atp6v1f UTSW 6 29,468,198 (GRCm39) splice site probably null
R5898:Atp6v1f UTSW 6 29,467,957 (GRCm39) missense probably benign 0.22
R7408:Atp6v1f UTSW 6 29,470,194 (GRCm39) missense probably damaging 0.96
R7423:Atp6v1f UTSW 6 29,468,105 (GRCm39) missense probably null
R7585:Atp6v1f UTSW 6 29,467,927 (GRCm39) missense possibly damaging 0.50
R9471:Atp6v1f UTSW 6 29,467,941 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GCATCACAGGTGTTTGGGAAG -3'
(R):5'- CAATCATGTGATGGGGAAAGTTC -3'

Sequencing Primer
(F):5'- TTTGGGAAGCGCTCTGC -3'
(R):5'- AAAGTTCGTGGACCTGCG -3'
Posted On 2018-08-01