Incidental Mutation 'R8840:Atp6v1b1'
ID 674364
Institutional Source Beutler Lab
Gene Symbol Atp6v1b1
Ensembl Gene ENSMUSG00000006269
Gene Name ATPase, H+ transporting, lysosomal V1 subunit B1
Synonyms lysosomal 56/58kDa, D630030L16Rik, Vpp-3, Vpp3, D630039P21Rik, Atp6b1
MMRRC Submission 068668-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8840 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 83719999-83735837 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 83733845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 359 (I359F)
Ref Sequence ENSEMBL: ENSMUSP00000006431 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006431] [ENSMUST00000205763]
AlphaFold Q91YH6
Predicted Effect
SMART Domains Protein: ENSMUSP00000006431
Gene: ENSMUSG00000006269
AA Change: I359F

DomainStartEndE-ValueType
Pfam:ATP-synt_ab_N 44 110 1.9e-14 PFAM
Pfam:ATP-synt_ab 167 393 9.4e-68 PFAM
Pfam:ATP-synt_ab_C 410 508 6.9e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000205763
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (46/46)
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 one of two V1 domain B subunit isoforms and is found in the kidney. Mutations in this gene cause distal renal tubular acidosis associated with sensorineural deafness. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation show impaired urinary acidification with a more severe metabolic acidosis and inappropriately alkaline urine after oral acid challenge. However, contrary to expectation, neither hearing nor inner ear morphology areimpaired. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc4 G A 5: 53,016,473 (GRCm39) D484N probably damaging Het
Antxr2 T A 5: 98,152,769 (GRCm39) L109F probably damaging Het
Arhgap9 A G 10: 127,161,009 (GRCm39) T179A possibly damaging Het
Btnl1 A G 17: 34,604,577 (GRCm39) T453A probably benign Het
Bub1 T C 2: 127,649,927 (GRCm39) I644V probably benign Het
Ccdc163 T A 4: 116,567,483 (GRCm39) probably null Het
Ccdc8 T A 7: 16,728,642 (GRCm39) F44I probably damaging Het
Ccz1 T C 5: 143,940,982 (GRCm39) I191V probably damaging Het
Cldn1 T C 16: 26,190,286 (GRCm39) K31E possibly damaging Het
Ctr9 A G 7: 110,642,237 (GRCm39) D321G probably damaging Het
Dmxl2 T C 9: 54,309,139 (GRCm39) N1871D possibly damaging Het
Dop1b A G 16: 93,607,005 (GRCm39) I2103V probably benign Het
Dscaml1 A G 9: 45,634,718 (GRCm39) E1211G probably damaging Het
Eppk1 T A 15: 75,994,094 (GRCm39) D929V probably benign Het
Fam151a T C 4: 106,602,819 (GRCm39) V246A probably benign Het
Fsip2 A G 2: 82,821,606 (GRCm39) I5780V probably benign Het
Gart A T 16: 91,433,010 (GRCm39) M313K probably benign Het
Gnl1 T G 17: 36,293,486 (GRCm39) L224V probably damaging Het
Hectd3 T C 4: 116,855,604 (GRCm39) V368A probably benign Het
Ibsp C T 5: 104,458,006 (GRCm39) A181V probably benign Het
Kdm1a T C 4: 136,287,716 (GRCm39) E421G probably damaging Het
Kmt2a A T 9: 44,721,016 (GRCm39) Y3831N unknown Het
Meltf T C 16: 31,716,020 (GRCm39) L733P probably damaging Het
Nod2 T C 8: 89,399,379 (GRCm39) F898L probably benign Het
Npr3 A T 15: 11,905,329 (GRCm39) Y133N probably damaging Het
Or8g29-ps1 G A 9: 39,201,018 (GRCm39) T56I unknown Het
Pkd1l3 T C 8: 110,349,842 (GRCm39) V229A unknown Het
Pramel25 C A 4: 143,521,638 (GRCm39) T418K probably damaging Het
Primpol A T 8: 47,046,731 (GRCm39) F188L probably damaging Het
Rbm15 A G 3: 107,240,305 (GRCm39) V31A probably benign Het
Robo2 T A 16: 73,782,570 (GRCm39) D322V probably damaging Het
Rpl3l A G 17: 24,952,711 (GRCm39) N114S probably damaging Het
Sacs A G 14: 61,429,177 (GRCm39) D412G probably benign Het
Sbno2 A G 10: 79,893,360 (GRCm39) S1314P probably damaging Het
Sez6 A G 11: 77,867,313 (GRCm39) D770G probably damaging Het
Skint7 T C 4: 111,845,183 (GRCm39) F332L probably benign Het
Spaca6 A T 17: 18,051,365 (GRCm39) I34F possibly damaging Het
Suclg2 T A 6: 95,546,615 (GRCm39) E287V probably damaging Het
Trhr2 T C 8: 123,085,621 (GRCm39) Y121C probably damaging Het
Ttn T G 2: 76,606,371 (GRCm39) D18146A probably damaging Het
Wdr3 G A 3: 100,057,253 (GRCm39) T450I probably damaging Het
Xab2 A G 8: 3,663,254 (GRCm39) F470L probably benign Het
Ythdc2 A G 18: 44,993,691 (GRCm39) H912R probably damaging Het
Zfp64 A T 2: 168,768,635 (GRCm39) S326T probably benign Het
Zswim4 C T 8: 84,940,699 (GRCm39) R800Q probably damaging Het
Other mutations in Atp6v1b1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01560:Atp6v1b1 APN 6 83,726,897 (GRCm39) splice site probably benign
IGL02005:Atp6v1b1 APN 6 83,730,896 (GRCm39) unclassified probably benign
IGL02085:Atp6v1b1 APN 6 83,730,897 (GRCm39) unclassified probably benign
IGL02100:Atp6v1b1 APN 6 83,735,426 (GRCm39) missense probably damaging 1.00
IGL02267:Atp6v1b1 APN 6 83,733,891 (GRCm39) missense probably benign 0.44
IGL02507:Atp6v1b1 APN 6 83,733,837 (GRCm39) missense possibly damaging 0.95
IGL02563:Atp6v1b1 APN 6 83,732,433 (GRCm39) missense probably benign 0.14
IGL03144:Atp6v1b1 APN 6 83,735,333 (GRCm39) missense probably benign 0.02
R0391:Atp6v1b1 UTSW 6 83,733,903 (GRCm39) missense possibly damaging 0.93
R0420:Atp6v1b1 UTSW 6 83,729,826 (GRCm39) unclassified probably benign
R0458:Atp6v1b1 UTSW 6 83,729,390 (GRCm39) missense probably damaging 1.00
R0561:Atp6v1b1 UTSW 6 83,730,793 (GRCm39) missense probably damaging 1.00
R0947:Atp6v1b1 UTSW 6 83,730,814 (GRCm39) missense probably damaging 1.00
R1241:Atp6v1b1 UTSW 6 83,733,526 (GRCm39) unclassified probably benign
R1417:Atp6v1b1 UTSW 6 83,730,862 (GRCm39) missense probably damaging 1.00
R1447:Atp6v1b1 UTSW 6 83,734,924 (GRCm39) missense possibly damaging 0.46
R1710:Atp6v1b1 UTSW 6 83,735,372 (GRCm39) missense probably benign
R1722:Atp6v1b1 UTSW 6 83,720,074 (GRCm39) missense possibly damaging 0.68
R1862:Atp6v1b1 UTSW 6 83,726,834 (GRCm39) critical splice acceptor site probably null
R2086:Atp6v1b1 UTSW 6 83,734,834 (GRCm39) missense probably benign 0.10
R3433:Atp6v1b1 UTSW 6 83,720,074 (GRCm39) missense possibly damaging 0.81
R4193:Atp6v1b1 UTSW 6 83,720,085 (GRCm39) missense probably benign 0.01
R4606:Atp6v1b1 UTSW 6 83,729,443 (GRCm39) missense probably damaging 1.00
R5901:Atp6v1b1 UTSW 6 83,735,339 (GRCm39) missense possibly damaging 0.87
R6156:Atp6v1b1 UTSW 6 83,735,115 (GRCm39) missense probably damaging 1.00
R6187:Atp6v1b1 UTSW 6 83,729,377 (GRCm39) missense probably damaging 1.00
R6717:Atp6v1b1 UTSW 6 83,730,632 (GRCm39) splice site probably null
R6727:Atp6v1b1 UTSW 6 83,728,857 (GRCm39) unclassified probably benign
R6952:Atp6v1b1 UTSW 6 83,731,792 (GRCm39) missense probably damaging 1.00
R7753:Atp6v1b1 UTSW 6 83,729,440 (GRCm39) missense probably benign 0.02
R7852:Atp6v1b1 UTSW 6 83,729,452 (GRCm39) missense possibly damaging 0.47
R8421:Atp6v1b1 UTSW 6 83,730,791 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGGTTCCATCACCCAGATCC -3'
(R):5'- CCAGAAGCTGTTTAACTTTGGG -3'

Sequencing Primer
(F):5'- ATTCTCACCATGCCTAATGATGG -3'
(R):5'- AACTTTGGGCTGGCCTCTC -3'
Posted On 2021-07-15