Incidental Mutation 'R6727:Atp6v1b1'
ID 529904
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 044845-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6727 (G1)
Quality Score 84.0076
Status Validated
Chromosome 6
Chromosomal Location 83719999-83735837 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 83728857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006431] [ENSMUST00000205763] [ENSMUST00000206911]
AlphaFold Q91YH6
Predicted Effect probably benign
Transcript: ENSMUST00000006431
SMART Domains Protein: ENSMUSP00000006431
Gene: ENSMUSG00000006269

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 unknown
Transcript: ENSMUST00000205763
AA Change: Y64C
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205867
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206652
Predicted Effect probably benign
Transcript: ENSMUST00000206911
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.1%
Validation Efficiency 98% (44/45)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010109A12Rik A G 5: 93,354,434 (GRCm39) probably benign Het
4930563M21Rik C T 9: 55,896,760 (GRCm39) V283I possibly damaging Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Allc T A 12: 28,607,388 (GRCm39) H288L probably damaging Het
Atg16l1 T C 1: 87,702,576 (GRCm39) I279T possibly damaging Het
Barhl1 G A 2: 28,805,495 (GRCm39) P66L probably benign Het
Brd8dc T A 18: 34,713,894 (GRCm39) M244L probably benign Het
Cfap58 A T 19: 47,943,856 (GRCm39) D352V probably benign Het
Cyp3a44 T A 5: 145,731,781 (GRCm39) K122* probably null Het
Dnai1 G T 4: 41,625,308 (GRCm39) R424L probably benign Het
Dync1li2 G T 8: 105,167,167 (GRCm39) H79Q probably damaging Het
Fem1b A G 9: 62,704,015 (GRCm39) V415A possibly damaging Het
Fgb C T 3: 82,954,094 (GRCm39) S48N possibly damaging Het
Gm5624 T C 14: 44,799,332 (GRCm39) D31G possibly damaging Het
Gzmn T A 14: 56,403,432 (GRCm39) I226F probably damaging Het
H2-T5 A T 17: 36,476,622 (GRCm39) V284E probably damaging Het
Il31ra T C 13: 112,683,902 (GRCm39) S184G probably damaging Het
Insrr C T 3: 87,720,873 (GRCm39) R1044C probably damaging Het
Kcnj15 A G 16: 95,097,193 (GRCm39) S272G probably damaging Het
Kcnk16 C T 14: 20,312,997 (GRCm39) A106T probably benign Het
Kmt2b A G 7: 30,283,984 (GRCm39) V876A probably damaging Het
Large2 G T 2: 92,201,215 (GRCm39) probably benign Het
Maml2 A T 9: 13,532,847 (GRCm39) probably benign Het
Me1 A G 9: 86,464,851 (GRCm39) L533P possibly damaging Het
Muc16 A G 9: 18,477,986 (GRCm39) probably null Het
Nova2 C A 7: 18,692,419 (GRCm39) T516K probably damaging Het
Or1l4 T A 2: 37,092,118 (GRCm39) N288K probably damaging Het
Or56b1 T C 7: 104,285,094 (GRCm39) I71T probably damaging Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Ppp2r1a T A 17: 21,176,087 (GRCm39) V103E probably benign Het
Prl3d3 G A 13: 27,341,147 (GRCm39) probably null Het
Rhbdf1 G T 11: 32,164,042 (GRCm39) A288E possibly damaging Het
Rnf213 T C 11: 119,321,147 (GRCm39) S1202P possibly damaging Het
Slc25a17 A G 15: 81,222,154 (GRCm39) V106A probably benign Het
Slc4a4 T G 5: 89,318,624 (GRCm39) S640A probably benign Het
Smc4 T A 3: 68,924,105 (GRCm39) Y298N probably damaging Het
Tek G T 4: 94,741,732 (GRCm39) G830* probably null Het
Tgfb1 A T 7: 25,388,587 (GRCm39) probably benign Het
Themis T C 10: 28,657,903 (GRCm39) I157T probably damaging Het
Trmt12 A G 15: 58,744,514 (GRCm39) probably benign Het
Trrap T C 5: 144,793,760 (GRCm39) W3654R probably damaging Het
Tspan3 C T 9: 56,054,724 (GRCm39) G108S probably damaging Het
Ugt1a10 T A 1: 87,983,979 (GRCm39) probably null Het
Vps13b A G 15: 35,770,829 (GRCm39) K2091E probably benign Het
Wdr62 A T 7: 29,971,045 (GRCm39) V184D probably damaging Het
Zfp958 C A 8: 4,678,247 (GRCm39) Q90K probably benign 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
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
R8840:Atp6v1b1 UTSW 6 83,733,845 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- TCATCTATGATGTTGCCGTAAGC -3'
(R):5'- AAGGTGAAGCCATGCTACC -3'

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