Incidental Mutation 'R5843:Atp6v1h'
ID 450520
Institutional Source Beutler Lab
Gene Symbol Atp6v1h
Ensembl Gene ENSMUSG00000033793
Gene Name ATPase, H+ transporting, lysosomal V1 subunit H
Synonyms 0710001F19Rik
MMRRC Submission 043224-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5843 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 5153201-5233438 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 5232312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044369] [ENSMUST00000192698] [ENSMUST00000192847]
AlphaFold Q8BVE3
Predicted Effect probably null
Transcript: ENSMUST00000044369
SMART Domains Protein: ENSMUSP00000040756
Gene: ENSMUSG00000033793

DomainStartEndE-ValueType
Pfam:V-ATPase_H_N 17 342 3e-106 PFAM
Pfam:V-ATPase_H_C 348 464 1.9e-49 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000192698
SMART Domains Protein: ENSMUSP00000141797
Gene: ENSMUSG00000033793

DomainStartEndE-ValueType
Pfam:V-ATPase_H_N 17 324 4.4e-104 PFAM
Pfam:V-ATPase_H_C 329 447 1.7e-48 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000192847
SMART Domains Protein: ENSMUSP00000141636
Gene: ENSMUSG00000033793

DomainStartEndE-ValueType
Pfam:V-ATPase_H_N 17 342 1e-102 PFAM
Pfam:V-ATPase_H_C 332 423 2.7e-25 PFAM
Pfam:Arm_2 339 427 4.6e-5 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.5%
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 intracellular organelles. V-ATPase-dependent organelle acidification is necessary for multiple processes including protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. The encoded protein is the regulatory H subunit of the V1 domain of V-ATPase, which is required for catalysis of ATP but not the assembly of V-ATPase. Decreased expression of this gene may play a role in the development of type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice heterozygous for the allele exhbit bone loss with altered bone absorption and decreased bone formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 A G 1: 89,537,272 (GRCm39) T93A probably damaging Het
Ccnk T C 12: 108,159,989 (GRCm39) V157A probably damaging Het
Cdh10 T C 15: 18,985,286 (GRCm39) F317L possibly damaging Het
Chn1 A G 2: 73,510,092 (GRCm39) I139T probably benign Het
Creld2 A T 15: 88,710,632 (GRCm39) D349V probably damaging Het
Dnah3 TTCCTC TTC 7: 119,550,244 (GRCm39) probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Frem1 T C 4: 82,854,289 (GRCm39) D1660G probably damaging Het
Hipk3 A C 2: 104,270,569 (GRCm39) S470R possibly damaging Het
Hook2 T A 8: 85,717,912 (GRCm39) I37K probably damaging Het
Hpcal1 T C 12: 17,841,200 (GRCm39) F193L probably benign Het
Hps4 T C 5: 112,497,296 (GRCm39) probably null Het
Iqgap1 T C 7: 80,375,828 (GRCm39) N1349S probably benign Het
Khk A G 5: 31,079,275 (GRCm39) I6V possibly damaging Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Lrch3 T C 16: 32,818,896 (GRCm39) V629A probably damaging Het
Mtpn C T 6: 35,489,225 (GRCm39) D100N probably benign Het
Muc13 A G 16: 33,626,421 (GRCm39) Y320C probably damaging Het
Or2aj4 T A 16: 19,385,333 (GRCm39) Q100L probably damaging Het
Or2y1b A T 11: 49,209,076 (GRCm39) R234S probably benign Het
Or5ac21 T A 16: 59,123,724 (GRCm39) D69E probably damaging Het
Parpbp A G 10: 87,969,053 (GRCm39) L131P probably damaging Het
Prl3a1 T C 13: 27,454,093 (GRCm39) W24R probably damaging Het
Ptprk T A 10: 28,369,060 (GRCm39) N677K probably damaging Het
Rbm39 A T 2: 156,004,793 (GRCm39) D181E possibly damaging Het
Ros1 T C 10: 52,042,293 (GRCm39) T220A possibly damaging Het
Slc46a3 T C 5: 147,823,021 (GRCm39) I274V probably benign Het
Tas2r104 T A 6: 131,661,938 (GRCm39) N257I probably damaging Het
Timeless A G 10: 128,080,113 (GRCm39) probably null Het
Tmem63a T C 1: 180,800,398 (GRCm39) probably null Het
Traf5 T C 1: 191,729,446 (GRCm39) D535G possibly damaging Het
Trank1 C T 9: 111,194,928 (GRCm39) S984L possibly damaging Het
Trpm6 A G 19: 18,833,539 (GRCm39) T1573A probably benign Het
Ube3b T A 5: 114,550,360 (GRCm39) I835N probably damaging Het
Wnt16 T A 6: 22,290,947 (GRCm39) I125N probably damaging Het
Xirp2 G T 2: 67,307,129 (GRCm39) probably benign Het
Zbtb47 T C 9: 121,596,405 (GRCm39) F624S possibly damaging Het
Zc3h12c G T 9: 52,027,982 (GRCm39) T460K probably benign Het
Zfp865 C A 7: 5,033,416 (GRCm39) T467K probably benign Het
Zim1 A G 7: 6,680,697 (GRCm39) V322A possibly damaging Het
Other mutations in Atp6v1h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00671:Atp6v1h APN 1 5,194,694 (GRCm39) critical splice donor site probably null
IGL00984:Atp6v1h APN 1 5,165,905 (GRCm39) missense probably damaging 1.00
IGL01545:Atp6v1h APN 1 5,159,282 (GRCm39) missense probably benign
IGL01788:Atp6v1h APN 1 5,220,206 (GRCm39) missense possibly damaging 0.81
IGL02317:Atp6v1h APN 1 5,154,693 (GRCm39) missense possibly damaging 0.95
IGL02679:Atp6v1h APN 1 5,194,525 (GRCm39) missense probably damaging 1.00
IGL02944:Atp6v1h APN 1 5,163,578 (GRCm39) splice site probably benign
IGL03119:Atp6v1h APN 1 5,165,892 (GRCm39) missense probably benign 0.34
F5770:Atp6v1h UTSW 1 5,194,666 (GRCm39) missense possibly damaging 0.94
R0055:Atp6v1h UTSW 1 5,154,677 (GRCm39) missense probably benign 0.01
R0055:Atp6v1h UTSW 1 5,154,677 (GRCm39) missense probably benign 0.01
R0727:Atp6v1h UTSW 1 5,154,781 (GRCm39) nonsense probably null
R1452:Atp6v1h UTSW 1 5,168,360 (GRCm39) unclassified probably benign
R1465:Atp6v1h UTSW 1 5,165,911 (GRCm39) missense probably damaging 1.00
R1465:Atp6v1h UTSW 1 5,165,911 (GRCm39) missense probably damaging 1.00
R2273:Atp6v1h UTSW 1 5,187,699 (GRCm39) missense probably damaging 1.00
R4512:Atp6v1h UTSW 1 5,168,358 (GRCm39) critical splice donor site probably null
R4687:Atp6v1h UTSW 1 5,203,308 (GRCm39) missense probably damaging 1.00
R5185:Atp6v1h UTSW 1 5,165,865 (GRCm39) missense probably damaging 1.00
R5628:Atp6v1h UTSW 1 5,206,112 (GRCm39) nonsense probably null
R7037:Atp6v1h UTSW 1 5,220,215 (GRCm39) missense possibly damaging 0.77
R7505:Atp6v1h UTSW 1 5,194,561 (GRCm39) missense probably benign
R9098:Atp6v1h UTSW 1 5,163,638 (GRCm39) missense probably damaging 1.00
R9291:Atp6v1h UTSW 1 5,220,284 (GRCm39) missense probably null 0.40
R9348:Atp6v1h UTSW 1 5,187,699 (GRCm39) missense probably damaging 1.00
V7580:Atp6v1h UTSW 1 5,194,666 (GRCm39) missense possibly damaging 0.94
V7581:Atp6v1h UTSW 1 5,194,666 (GRCm39) missense possibly damaging 0.94
V7582:Atp6v1h UTSW 1 5,194,666 (GRCm39) missense possibly damaging 0.94
V7583:Atp6v1h UTSW 1 5,194,666 (GRCm39) missense possibly damaging 0.94
Z1088:Atp6v1h UTSW 1 5,168,271 (GRCm39) missense probably damaging 1.00
Z1176:Atp6v1h UTSW 1 5,165,851 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGTCCTTCATGTAAAGAGGGAAGTC -3'
(R):5'- TATTCTCCCAGGAATTACCATAGGG -3'

Sequencing Primer
(F):5'- GGAAGTCAACCCTGCAAATGGC -3'
(R):5'- TCCCAGGAATTACCATAGGGAAAAGC -3'
Posted On 2016-12-20