Incidental Mutation 'R7037:Atp6v1h'
ID 546739
Institutional Source Beutler Lab
Gene Symbol Atp6v1h
Ensembl Gene ENSMUSG00000033793
Gene Name ATPase, H+ transporting, lysosomal V1 subunit H
Synonyms 0710001F19Rik
MMRRC Submission 045137-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7037 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 5153201-5233438 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 5220215 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 423 (M423K)
Ref Sequence ENSEMBL: ENSMUSP00000141797 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044369] [ENSMUST00000192698] [ENSMUST00000192847]
AlphaFold Q8BVE3
Predicted Effect possibly damaging
Transcript: ENSMUST00000044369
AA Change: M441K

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000040756
Gene: ENSMUSG00000033793
AA Change: M441K

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 possibly damaging
Transcript: ENSMUST00000192698
AA Change: M423K

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141797
Gene: ENSMUSG00000033793
AA Change: M423K

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 possibly damaging
Transcript: ENSMUST00000192847
AA Change: M399K

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141636
Gene: ENSMUSG00000033793
AA Change: M399K

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (70/70)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 A T 7: 119,367,266 (GRCm39) N33I probably damaging Het
Ahnak2 A T 12: 112,740,712 (GRCm39) V314D probably damaging Het
Arl14epl T G 18: 47,065,510 (GRCm39) C92G probably benign Het
Baiap3 G A 17: 25,462,814 (GRCm39) R1075C probably benign Het
Baz2b C T 2: 59,764,014 (GRCm39) probably null Het
Bicral T C 17: 47,135,560 (GRCm39) H550R probably benign Het
C1rl A G 6: 124,485,598 (GRCm39) Y323C probably damaging Het
Ccr9 T A 9: 123,609,036 (GRCm39) H239Q possibly damaging Het
Cdh16 T A 8: 105,344,267 (GRCm39) R91* probably null Het
Coro1c A G 5: 113,983,457 (GRCm39) F357S possibly damaging Het
Cpsf4 G A 5: 145,112,939 (GRCm39) R141Q possibly damaging Het
Cryzl2 G A 1: 157,298,318 (GRCm39) V236I probably damaging Het
Cttnbp2 T C 6: 18,435,117 (GRCm39) E247G probably damaging Het
Dbr1 T A 9: 99,458,621 (GRCm39) probably null Het
Dclk1 T C 3: 55,370,469 (GRCm39) S23P probably damaging Het
Dpyd A T 3: 118,692,938 (GRCm39) I361F probably benign Het
Elac2 A G 11: 64,874,537 (GRCm39) E218G probably benign Het
Eml4 T A 17: 83,732,756 (GRCm39) D136E probably benign Het
Foxred1 A T 9: 35,118,844 (GRCm39) S223T probably benign Het
Garin5b G T 7: 4,761,584 (GRCm39) probably benign Het
Gask1a G T 9: 121,794,592 (GRCm39) V249L possibly damaging Het
Gm11595 A G 11: 99,663,474 (GRCm39) C69R unknown Het
Gna14 A T 19: 16,511,128 (GRCm39) H59L Het
H2-Ab1 T A 17: 34,486,963 (GRCm39) I239N probably damaging Het
Ints7 T C 1: 191,351,717 (GRCm39) S809P probably benign Het
Itgb4 T A 11: 115,896,391 (GRCm39) Y1379* probably null Het
Kank1 A G 19: 25,407,705 (GRCm39) D1233G probably damaging Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Lrrc66 A T 5: 73,764,504 (GRCm39) D846E probably benign Het
Lyst A G 13: 13,791,251 (GRCm39) H38R probably damaging Het
Mc3r T C 2: 172,091,554 (GRCm39) F259L probably damaging Het
Med25 A G 7: 44,532,206 (GRCm39) Y384H probably damaging Het
Met A T 6: 17,547,127 (GRCm39) probably benign Het
Mmp16 T C 4: 18,116,148 (GRCm39) V584A possibly damaging Het
Mrgprb3 A G 7: 48,292,942 (GRCm39) L203P probably damaging Het
Mus81 A G 19: 5,536,108 (GRCm39) L185P probably damaging Het
Naaa A G 5: 92,424,934 (GRCm39) V75A possibly damaging Het
Obscn T A 11: 58,934,755 (GRCm39) T5292S probably damaging Het
Obscn T C 11: 58,943,430 (GRCm39) S4801G probably damaging Het
Or2ag19 T C 7: 106,444,543 (GRCm39) S242P probably damaging Het
Otof T C 5: 30,538,882 (GRCm39) D1112G probably benign Het
Pals1 T A 12: 78,843,973 (GRCm39) I59N probably damaging Het
Pbx4 A G 8: 70,317,525 (GRCm39) R170G probably damaging Het
Pigt CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT 2: 164,341,589 (GRCm39) probably null Het
Plce1 A T 19: 38,690,461 (GRCm39) D715V probably damaging Het
Pms1 T C 1: 53,246,770 (GRCm39) T311A possibly damaging Het
Popdc2 A G 16: 38,194,629 (GRCm39) D350G probably damaging Het
Prex1 A G 2: 166,429,100 (GRCm39) V661A probably benign Het
Ptbp2 A G 3: 119,545,557 (GRCm39) Y130H probably damaging Het
Rev3l C T 10: 39,727,971 (GRCm39) R2707W probably damaging Het
Rpl37 G A 15: 5,147,185 (GRCm39) R75K probably null Het
Ryr3 T A 2: 112,779,475 (GRCm39) R259* probably null Het
Scai A T 2: 39,080,633 (GRCm39) S8T probably benign Het
Scn4a C A 11: 106,211,726 (GRCm39) L1430F probably damaging Het
Sema5a A G 15: 32,686,993 (GRCm39) K1035R probably damaging Het
Siah3 A G 14: 75,763,025 (GRCm39) H92R probably benign Het
Smc4 G A 3: 68,925,528 (GRCm39) V342I possibly damaging Het
Spata31d1a C T 13: 59,848,138 (GRCm39) C1330Y possibly damaging Het
St18 C A 1: 6,873,260 (GRCm39) H332N possibly damaging Het
Sycp1 T A 3: 102,806,250 (GRCm39) E480D possibly damaging Het
Tex14 A T 11: 87,388,741 (GRCm39) I323F probably damaging Het
Tm7sf2 A T 19: 6,114,107 (GRCm39) probably null Het
Tmem241 G T 18: 12,246,463 (GRCm39) H62Q probably benign Het
Tmem54 T A 4: 129,004,594 (GRCm39) probably null Het
Tomm34 A G 2: 163,912,398 (GRCm39) L39P probably damaging Het
Triml2 T A 8: 43,646,573 (GRCm39) V354D probably damaging Het
Usp19 T C 9: 108,374,157 (GRCm39) I738T possibly damaging Het
Utp25 A C 1: 192,803,031 (GRCm39) probably null Het
Utrn T A 10: 12,702,514 (GRCm39) probably null Het
Zfp1005 G T 2: 150,108,376 (GRCm39) V46F 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
R5843:Atp6v1h UTSW 1 5,232,312 (GRCm39) splice site probably null
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'- GAGTGATGTAAGATGTAATGCTAGC -3'
(R):5'- AGCTGAAGTAATTTTGGGGTATCAG -3'

Sequencing Primer
(F):5'- TGTAAGATGTAATGCTAGCTTACTTC -3'
(R):5'- GGGGTATCAGAAATCTGTACCTTTC -3'
Posted On 2019-05-13