Incidental Mutation 'R0420:Atp6v1b1'
ID 36980
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 038622-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0420 (G1)
Quality Score 187
Status Validated
Chromosome 6
Chromosomal Location 83719999-83735837 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 83729826 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 probably benign
Transcript: ENSMUST00000205763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205867
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206052
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206652
Predicted Effect probably benign
Transcript: ENSMUST00000206911
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.2%
Validation Efficiency 100% (76/76)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,991,050 (GRCm39) V870A probably benign Het
Adam6b A T 12: 113,453,614 (GRCm39) M144L probably benign Het
Adrb2 T A 18: 62,312,610 (GRCm39) I72L possibly damaging Het
Ankrd53 A T 6: 83,740,674 (GRCm39) H99L probably damaging Het
Ap4e1 C T 2: 126,891,280 (GRCm39) T17M probably damaging Het
Arnt T A 3: 95,377,705 (GRCm39) probably benign Het
Atp1a3 C T 7: 24,680,052 (GRCm39) G884E probably benign Het
Atp8a2 G T 14: 60,011,193 (GRCm39) T971K probably damaging Het
BC048562 A T 9: 108,323,165 (GRCm39) T167S probably benign Het
Brd9 A G 13: 74,103,592 (GRCm39) M491V probably benign Het
Btnl10 A T 11: 58,814,277 (GRCm39) D319V probably damaging Het
Cadps T A 14: 12,491,800 (GRCm38) R783S probably damaging Het
Ccdc149 A G 5: 52,557,581 (GRCm39) probably benign Het
Ccm2l A T 2: 152,912,782 (GRCm39) D107V probably null Het
Cep192 A G 18: 67,946,964 (GRCm39) E213G possibly damaging Het
Cyp2c37 A C 19: 39,984,238 (GRCm39) N242T probably benign Het
Dnah17 A G 11: 117,930,765 (GRCm39) V3750A probably damaging Het
Ehbp1 T A 11: 22,101,836 (GRCm39) I231L probably benign Het
Emilin3 A G 2: 160,752,799 (GRCm39) probably benign Het
Eya4 T C 10: 23,031,861 (GRCm39) N254S possibly damaging Het
Fam184b A G 5: 45,741,854 (GRCm39) S126P probably damaging Het
Fancd2 T C 6: 113,513,940 (GRCm39) L108P probably damaging Het
Fgf12 A T 16: 27,981,281 (GRCm39) M145K possibly damaging Het
Gabbr1 A G 17: 37,357,654 (GRCm39) N23S possibly damaging Het
Ggt1 T A 10: 75,412,047 (GRCm39) probably benign Het
Gm6434 T A 7: 25,581,786 (GRCm39) noncoding transcript Het
Grik4 A T 9: 42,533,392 (GRCm39) L376* probably null Het
Gvin3 T A 7: 106,203,090 (GRCm39) L51F probably damaging Het
Gzf1 A G 2: 148,525,753 (GRCm39) T75A probably benign Het
Hcn1 T C 13: 118,111,911 (GRCm39) I625T unknown Het
Hhat C T 1: 192,235,242 (GRCm39) probably null Het
Ifit1bl1 T C 19: 34,571,914 (GRCm39) E181G probably damaging Het
Kif21a T C 15: 90,852,257 (GRCm39) probably benign Het
Lrrc45 A C 11: 120,606,045 (GRCm39) S118R probably damaging Het
Mcm9 T C 10: 53,424,623 (GRCm39) I656V probably benign Het
Ms4a5 A G 19: 11,261,018 (GRCm39) L47S probably damaging Het
Mynn A T 3: 30,661,608 (GRCm39) N230I probably benign Het
Nck2 T C 1: 43,593,278 (GRCm39) S162P probably damaging Het
Nfat5 T C 8: 108,094,093 (GRCm39) F259S probably damaging Het
Obox1 T G 7: 15,290,178 (GRCm39) S174A possibly damaging Het
Ociad1 T A 5: 73,470,772 (GRCm39) probably null Het
Pgbd1 A T 13: 21,607,336 (GRCm39) V286E possibly damaging Het
Phlpp2 T C 8: 110,666,567 (GRCm39) V1032A probably damaging Het
Ppm1e C T 11: 87,131,440 (GRCm39) A318T probably damaging Het
Prex1 T A 2: 166,431,491 (GRCm39) D757V probably benign Het
Ptpdc1 C A 13: 48,742,595 (GRCm39) probably null Het
Rbbp5 T G 1: 132,421,582 (GRCm39) I94R possibly damaging Het
Rnpc3 A G 3: 113,415,518 (GRCm39) V173A probably benign Het
Sgsm1 A T 5: 113,411,625 (GRCm39) N700K probably benign Het
Slco1a8 T G 6: 141,931,203 (GRCm39) probably benign Het
Sox14 T A 9: 99,757,175 (GRCm39) H188L probably damaging Het
Spmip11 A G 15: 98,468,975 (GRCm39) S17G probably benign Het
Supt5 T A 7: 28,016,754 (GRCm39) probably benign Het
Synpo A G 18: 60,735,490 (GRCm39) S819P probably damaging Het
Tenm2 A G 11: 36,097,951 (GRCm39) probably benign Het
Tenm4 T C 7: 96,522,973 (GRCm39) V1468A possibly damaging Het
Tiam2 A G 17: 3,553,193 (GRCm39) N83S probably benign Het
Tle6 T C 10: 81,431,145 (GRCm39) probably benign Het
Tm2d2 T G 8: 25,508,130 (GRCm39) N91K probably damaging Het
Tmem132d T G 5: 127,941,710 (GRCm39) Q463H probably benign Het
Tmf1 A G 6: 97,153,102 (GRCm39) S324P probably damaging Het
Tnc T C 4: 63,918,396 (GRCm39) T1172A probably benign Het
Usp17lb A T 7: 104,489,746 (GRCm39) C393S probably benign Het
Usp42 G A 5: 143,700,616 (GRCm39) L1136F probably damaging Het
Vmn2r92 T G 17: 18,389,183 (GRCm39) M499R probably benign Het
Vps54 T A 11: 21,261,071 (GRCm39) probably benign Het
Wdr6 C T 9: 108,450,300 (GRCm39) R1076H probably benign Het
Wdr72 T A 9: 74,118,039 (GRCm39) M917K possibly damaging Het
Wee2 T C 6: 40,433,929 (GRCm39) V281A probably benign Het
Zc3h6 A G 2: 128,856,747 (GRCm39) D609G probably benign Het
Zfp345 G A 2: 150,315,163 (GRCm39) H125Y possibly damaging Het
Zhx2 A G 15: 57,685,236 (GRCm39) K202E probably damaging Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) 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
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
R8840:Atp6v1b1 UTSW 6 83,733,845 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- CAGTGGACAGGATGACCCCAAAATG -3'
(R):5'- GGGCTTATGGAACTGAAGACCACAG -3'

Sequencing Primer
(F):5'- CCAAAATGCCTTGTCTGTAGTAGC -3'
(R):5'- CATGGGGTTAGCACCACTTG -3'
Posted On 2013-05-09