Incidental Mutation 'R9471:Atp6v1f'
ID 715459
Institutional Source Beutler Lab
Gene Symbol Atp6v1f
Ensembl Gene ENSMUSG00000004285
Gene Name ATPase, H+ transporting, lysosomal V1 subunit F
Synonyms 1110004G16Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R9471 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 29467782-29470508 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29467941 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 42 (D42E)
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: D42E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000004396
Gene: ENSMUSG00000004285
AA Change: D42E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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 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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b A G 5: 137,565,319 (GRCm39) K368E probably damaging Het
Adgrl2 T C 3: 148,558,365 (GRCm39) T448A probably benign Het
Aff4 C T 11: 53,271,473 (GRCm39) P337S probably benign Het
Alg12 G A 15: 88,690,621 (GRCm39) Q406* probably null Het
Anapc5 T C 5: 122,944,308 (GRCm39) Y302C probably damaging Het
Apol7a A G 15: 77,273,680 (GRCm39) S261P possibly damaging Het
Atad5 G T 11: 80,023,524 (GRCm39) K1545N possibly damaging Het
Bcl6 T A 16: 23,791,857 (GRCm39) N166Y probably benign Het
Btbd7 C T 12: 102,760,145 (GRCm39) R601Q probably damaging Het
Casp1 A G 9: 5,304,187 (GRCm39) E287G probably benign Het
Cd300c A T 11: 114,847,216 (GRCm39) V193E probably damaging Het
Cd300lg T A 11: 101,944,920 (GRCm39) S377T probably benign Het
Ceacam13 T A 7: 17,753,012 (GRCm39) *264R probably null Het
Clasrp G A 7: 19,319,172 (GRCm39) R498* probably null Het
Clec4n T A 6: 123,221,505 (GRCm39) N146K probably benign Het
Cntln T A 4: 84,968,019 (GRCm39) V746E possibly damaging Het
Defa29 T C 8: 21,816,901 (GRCm39) T31A possibly damaging Het
Egr4 A G 6: 85,489,695 (GRCm39) S122P possibly damaging Het
Fam221a T G 6: 49,349,520 (GRCm39) D28E probably damaging Het
Fanca G A 8: 124,000,897 (GRCm39) T1161I possibly damaging Het
Fcsk T C 8: 111,610,041 (GRCm39) E991G probably benign Het
Frat2 A G 19: 41,836,113 (GRCm39) S80P probably benign Het
Gse1 C A 8: 121,301,845 (GRCm39) S985R unknown Het
H2-M3 T A 17: 37,581,988 (GRCm39) I148N probably damaging Het
Hs6st3 G T 14: 119,376,235 (GRCm39) V137L probably damaging Het
Ighv1-42 T A 12: 114,900,927 (GRCm39) M53L probably benign Het
Klhl24 C T 16: 19,941,735 (GRCm39) T561I Het
Klhl26 C G 8: 70,904,803 (GRCm39) G369A probably damaging Het
Klra5 C A 6: 129,883,686 (GRCm39) W147L possibly damaging Het
Lrrd1 A T 5: 3,913,980 (GRCm39) D750V Het
Mc5r A G 18: 68,472,127 (GRCm39) D162G probably damaging Het
Mrc2 T A 11: 105,234,559 (GRCm39) S1026R probably benign Het
Nf1 A G 11: 79,436,195 (GRCm39) H1945R probably damaging Het
Nr4a2 A G 2: 57,002,114 (GRCm39) M113T probably benign Het
Obox2 G A 7: 15,131,113 (GRCm39) G73D probably damaging Het
Or1af1 G A 2: 37,110,400 (GRCm39) A300T probably damaging Het
Or2t48 A T 11: 58,420,355 (GRCm39) C152* probably null Het
Pappa2 C T 1: 158,642,029 (GRCm39) M1342I probably benign Het
Pla2g6 A T 15: 79,202,039 (GRCm39) L44Q probably damaging Het
Pnpla1 A T 17: 29,099,973 (GRCm39) Q280L probably benign Het
Pramel23 T A 4: 143,423,749 (GRCm39) T347S probably damaging Het
Prdm1 C T 10: 44,326,174 (GRCm39) G117S probably damaging Het
Prss36 A T 7: 127,545,605 (GRCm39) F6I probably benign Het
Sat2 A G 11: 69,513,725 (GRCm39) Y81C probably damaging Het
Sbspon T C 1: 15,962,677 (GRCm39) D67G probably benign Het
Shank2 G A 7: 143,964,752 (GRCm39) V787M possibly damaging Het
Stoml1 A T 9: 58,163,968 (GRCm39) I96F probably damaging Het
Tet2 C T 3: 133,191,680 (GRCm39) G918D probably damaging Het
Tgm4 A G 9: 122,869,444 (GRCm39) I8V probably benign Het
Tmem156 C T 5: 65,237,531 (GRCm39) R43K probably damaging Het
Trim44 T C 2: 102,230,651 (GRCm39) S127G unknown Het
Ttn C T 2: 76,598,846 (GRCm39) V19356M probably damaging Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Vmn2r67 A C 7: 84,799,723 (GRCm39) probably null Het
Wdr90 C A 17: 26,080,015 (GRCm39) V107L possibly damaging Het
Zfp316 T C 5: 143,241,161 (GRCm39) D286G unknown Het
Zfp981 C A 4: 146,622,080 (GRCm39) P335Q probably benign Het
Zscan18 T C 7: 12,508,343 (GRCm39) T386A possibly 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
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
Predicted Primers PCR Primer
(F):5'- AACTGCGCATGACTGAAGG -3'
(R):5'- ATCATGTGATGGGGAAAGTTCG -3'

Sequencing Primer
(F):5'- CATGACTGAAGGGCGGGGTC -3'
(R):5'- AAAGTTCGTGGACCTGCG -3'
Posted On 2022-06-15