Incidental Mutation 'R5107:Atp6v1f'
ID 393601
Institutional Source Beutler Lab
Gene Symbol Atp6v1f
Ensembl Gene ENSMUSG00000004285
Gene Name ATPase, H+ transporting, lysosomal V1 subunit F
Synonyms 1110004G16Rik
MMRRC Submission 042695-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R5107 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 29467782-29470508 bp(+) (GRCm39)
Type of Mutation splice site (32 bp from exon)
DNA Base Change (assembly) T to A at 29468198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000145062 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004396] [ENSMUST00000149646] [ENSMUST00000171317]
AlphaFold Q9D1K2
Predicted Effect probably benign
Transcript: ENSMUST00000004396
SMART Domains Protein: ENSMUSP00000004396
Gene: ENSMUSG00000004285

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

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

DomainStartEndE-ValueType
Pfam:ATP-synt_F 3 61 7e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159482
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 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.7%
Validation Efficiency 98% (56/57)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik T C 13: 61,001,472 (GRCm39) N85S possibly damaging Het
Adgre1 A G 17: 57,708,977 (GRCm39) Y56C possibly damaging Het
Agbl5 C A 5: 31,049,822 (GRCm39) P257Q probably damaging Het
Angptl2 A T 2: 33,118,615 (GRCm39) M130L probably damaging Het
Ccdc78 G A 17: 26,006,454 (GRCm39) V133M possibly damaging Het
Clpx A G 9: 65,215,821 (GRCm39) K145E possibly damaging Het
Col18a1 T C 10: 76,913,057 (GRCm39) probably null Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Igkv4-54 T C 6: 69,608,914 (GRCm39) I24V possibly damaging Het
Ikzf3 A G 11: 98,381,302 (GRCm39) Y93H probably damaging Het
Isl2 T C 9: 55,449,570 (GRCm39) V82A probably benign Het
Kcnq2 A T 2: 180,750,340 (GRCm39) probably benign Het
Krt4 A T 15: 101,831,226 (GRCm39) M225K possibly damaging Het
Ksr2 T C 5: 117,827,673 (GRCm39) V484A probably benign Het
Lrba T A 3: 86,267,086 (GRCm39) V1592E possibly damaging Het
Lrrc7 G A 3: 157,867,533 (GRCm39) P736L probably damaging Het
Mettl8 A T 2: 70,795,901 (GRCm39) F376I probably damaging Het
Muc5b T A 7: 141,409,268 (GRCm39) H1117Q unknown Het
Myh7 T A 14: 55,223,881 (GRCm39) probably benign Het
Myod1 G T 7: 46,027,218 (GRCm39) A228S probably benign Het
Ntrk1 T C 3: 87,702,280 (GRCm39) T58A probably benign Het
Or12d17 A G 17: 37,777,144 (GRCm39) T16A probably damaging Het
Pdcd11 T A 19: 47,094,893 (GRCm39) V559E probably damaging Het
Pde10a A G 17: 9,163,802 (GRCm39) N191S probably damaging Het
Phf3 A G 1: 30,870,566 (GRCm39) S161P probably benign Het
Pias1 C A 9: 62,789,510 (GRCm39) A566S probably benign Het
Pik3c2g T C 6: 139,612,623 (GRCm39) probably benign Het
Pmp22 A G 11: 63,049,237 (GRCm39) E160G probably damaging Het
Polb T C 8: 23,135,062 (GRCm39) probably null Het
Prob1 T C 18: 35,785,989 (GRCm39) N755S possibly damaging Het
Rhou A T 8: 124,387,912 (GRCm39) K215* probably null Het
Scaper A G 9: 55,487,616 (GRCm39) S749P probably damaging Het
Selenop A G 15: 3,305,075 (GRCm39) E77G probably damaging Het
Sema3a C A 5: 13,627,572 (GRCm39) S490* probably null Het
Slc26a2 A G 18: 61,331,632 (GRCm39) Y600H probably damaging Het
Slfn8 A C 11: 82,907,976 (GRCm39) I189S probably damaging Het
Stab1 T A 14: 30,885,752 (GRCm39) probably null Het
Tbc1d13 G A 2: 30,036,733 (GRCm39) E205K probably damaging Het
Tex47 C T 5: 7,354,842 (GRCm39) R8W probably benign Het
Tmem198b T C 10: 128,638,156 (GRCm39) T136A probably benign Het
Trim36 T C 18: 46,305,705 (GRCm39) Q414R probably benign Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Ttn A G 2: 76,608,496 (GRCm39) I16063T probably damaging Het
Ttn A G 2: 76,693,905 (GRCm39) V321A possibly damaging Het
Ubox5 A G 2: 130,441,688 (GRCm39) L333P probably damaging Het
Vmn2r19 T A 6: 123,286,602 (GRCm39) Y78* probably null Het
Wnk4 A G 11: 101,166,364 (GRCm39) probably benign Het
Xirp2 A G 2: 67,340,054 (GRCm39) D765G probably damaging Het
Xirp2 G T 2: 67,342,205 (GRCm39) G1482V probably damaging Het
Znhit1 A G 5: 137,015,682 (GRCm39) V2A probably benign Het
Other mutations in Atp6v1f
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4902:Atp6v1f UTSW 6 29,470,271 (GRCm39) unclassified probably benign
R5898:Atp6v1f UTSW 6 29,467,957 (GRCm39) missense probably benign 0.22
R6729:Atp6v1f UTSW 6 29,467,964 (GRCm39) missense probably benign 0.34
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'- ATTGGTGGCCTGATAACCTGG -3'
(R):5'- TACAGGACAATTGTAAGCCTCTAAG -3'

Sequencing Primer
(F):5'- CTGATAACCTGGGTGTCACG -3'
(R):5'- TGTAAGCCTCTAAGATAAATGAAGCG -3'
Posted On 2016-06-15