Incidental Mutation 'R4687:Atp6v1h'
ID 500025
Institutional Source Beutler Lab
Gene Symbol Atp6v1h
Ensembl Gene ENSMUSG00000033793
Gene Name ATPase, H+ transporting, lysosomal V1 subunit H
Synonyms 0710001F19Rik
MMRRC Submission 041938-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4687 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 5070018-5162529 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 5133085 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 291 (N291I)
Ref Sequence ENSEMBL: ENSMUSP00000141636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044369] [ENSMUST00000192698] [ENSMUST00000192847]
AlphaFold Q8BVE3
Predicted Effect probably damaging
Transcript: ENSMUST00000044369
AA Change: N291I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040756
Gene: ENSMUSG00000033793
AA Change: N291I

Pfam:V-ATPase_H_N 17 342 3e-106 PFAM
Pfam:V-ATPase_H_C 348 464 1.9e-49 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000192698
AA Change: N273I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141797
Gene: ENSMUSG00000033793
AA Change: N273I

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 damaging
Transcript: ENSMUST00000192847
AA Change: N291I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141636
Gene: ENSMUSG00000033793
AA Change: N291I

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194301
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T A 17: 8,992,153 (GRCm38) Y45N probably damaging Het
Agbl3 T C 6: 34,798,326 (GRCm38) V189A probably damaging Het
Akip1 C A 7: 109,704,986 (GRCm38) S90* probably null Het
Amn A T 12: 111,276,068 (GRCm38) D439V probably benign Het
Arhgap17 T A 7: 123,321,603 (GRCm38) D149V probably damaging Het
Atp6v0a4 A T 6: 38,092,465 (GRCm38) I76N possibly damaging Het
Baiap2l2 G T 15: 79,259,253 (GRCm38) P462T probably damaging Het
Bves C T 10: 45,354,840 (GRCm38) probably null Het
Cabp7 T A 11: 4,739,265 (GRCm38) K127* probably null Het
Cacna1h A G 17: 25,393,910 (GRCm38) V313A possibly damaging Het
Camkk2 T C 5: 122,753,724 (GRCm38) H245R probably damaging Het
Celsr1 T A 15: 85,932,460 (GRCm38) S1761C possibly damaging Het
Cfap46 T C 7: 139,627,456 (GRCm38) E1849G possibly damaging Het
Ciz1 T C 2: 32,367,465 (GRCm38) L174P probably damaging Het
Crim1 G T 17: 78,303,025 (GRCm38) C303F probably damaging Het
Cyp26c1 A G 19: 37,692,937 (GRCm38) Q396R probably damaging Het
Dnajc7 G A 11: 100,599,300 (GRCm38) P43L probably damaging Het
Dpf2 T C 19: 5,907,012 (GRCm38) H16R probably damaging Het
Dsp A G 13: 38,191,619 (GRCm38) T1127A probably damaging Het
Dst T C 1: 34,201,123 (GRCm38) L1525P probably damaging Het
Ehf T A 2: 103,267,126 (GRCm38) D192V probably damaging Het
Frem1 G T 4: 83,020,631 (GRCm38) N71K probably damaging Het
Furin T A 7: 80,393,447 (GRCm38) T339S probably benign Het
Gad1 T A 2: 70,600,720 (GRCm38) I569N possibly damaging Het
Gfi1 T C 5: 107,723,810 (GRCm38) K10R probably damaging Het
Gm20775 T A Y: 10,641,258 (GRCm38) noncoding transcript Homo
Gpn3 A C 5: 122,378,575 (GRCm38) D89A possibly damaging Het
Gpr18 T A 14: 121,911,678 (GRCm38) R312* probably null Het
Gsap T C 5: 21,246,971 (GRCm38) probably benign Het
H2-Ab1 C A 17: 34,264,809 (GRCm38) T48K probably damaging Het
Hmcn2 A T 2: 31,438,285 (GRCm38) N4326I probably benign Het
Igkv4-51 A C 6: 69,681,730 (GRCm38) probably benign Het
Insr T C 8: 3,161,709 (GRCm38) H1104R probably benign Het
Ipo13 A T 4: 117,901,576 (GRCm38) N697K probably benign Het
Iqcm T G 8: 75,762,989 (GRCm38) F362V probably damaging Het
Irak4 T C 15: 94,566,823 (GRCm38) S425P probably damaging Het
Jakmip2 T C 18: 43,577,412 (GRCm38) E242G possibly damaging Het
Kdm4a T C 4: 118,144,083 (GRCm38) K829R probably damaging Het
Kdr T C 5: 75,968,792 (GRCm38) N145S possibly damaging Het
Klra9 A T 6: 130,185,517 (GRCm38) D185E probably benign Het
Lcn12 T C 2: 25,493,321 (GRCm38) N15S probably benign Het
Mei4 T A 9: 81,927,317 (GRCm38) M151K probably damaging Het
Mmp3 T A 9: 7,451,223 (GRCm38) S320T probably benign Het
Mrps5 C G 2: 127,590,770 (GRCm38) A37G probably benign Het
Mttp A G 3: 138,092,735 (GRCm38) I800T possibly damaging Het
Nags A T 11: 102,148,196 (GRCm38) Q451L probably damaging Het
Nbea T C 3: 56,058,065 (GRCm38) T476A probably damaging Het
Ndufb10 T C 17: 24,722,419 (GRCm38) E145G possibly damaging Het
Neb T G 2: 52,304,035 (GRCm38) S660R possibly damaging Het
Nppb A G 4: 147,986,296 (GRCm38) K43E probably benign Het
Nup188 A T 2: 30,330,633 (GRCm38) Q906L probably benign Het
Olfr1259 T C 2: 89,943,869 (GRCm38) D82G probably damaging Het
Olfr1413 T C 1: 92,573,330 (GRCm38) I53T possibly damaging Het
Olfr370 T A 8: 83,541,860 (GRCm38) S239T probably damaging Het
Olfr895 C A 9: 38,269,414 (GRCm38) N292K probably damaging Het
Ovch2 T A 7: 107,796,548 (GRCm38) I88F possibly damaging Het
Palm3 A G 8: 84,029,935 (GRCm38) E692G probably benign Het
Pcsk6 T C 7: 65,983,753 (GRCm38) F578L probably damaging Het
Piezo2 A C 18: 63,069,963 (GRCm38) D1535E probably damaging Het
Ppp1r15b T C 1: 133,132,135 (GRCm38) V130A probably benign Het
Proca1 T C 11: 78,204,898 (GRCm38) Y32H probably damaging Het
Prtg T A 9: 72,890,798 (GRCm38) V682E probably damaging Het
Pyroxd1 A T 6: 142,361,868 (GRCm38) M455L probably benign Het
Rasa1 T C 13: 85,226,635 (GRCm38) D739G possibly damaging Het
Scn3a T C 2: 65,464,730 (GRCm38) I1550V possibly damaging Het
Sepsecs T C 5: 52,643,871 (GRCm38) D483G probably benign Het
Setd7 T C 3: 51,550,355 (GRCm38) D17G probably damaging Het
Sipa1l2 C T 8: 125,491,245 (GRCm38) C451Y probably damaging Het
Slc31a1 A G 4: 62,388,702 (GRCm38) Y165C probably damaging Het
Smg5 T C 3: 88,342,469 (GRCm38) F68L possibly damaging Het
Sptbn5 A G 2: 120,077,208 (GRCm38) probably benign Het
Stk3 A G 15: 35,114,565 (GRCm38) I65T probably damaging Het
Tas2r115 C T 6: 132,737,284 (GRCm38) A235T possibly damaging Het
Tenm2 C T 11: 36,049,097 (GRCm38) A1400T probably benign Het
Tet1 T A 10: 62,838,791 (GRCm38) N1169Y probably benign Het
Treml2 T A 17: 48,309,397 (GRCm38) probably null Het
Tspan11 A G 6: 127,938,235 (GRCm38) E104G probably damaging Het
Wdtc1 G A 4: 133,296,431 (GRCm38) A543V probably damaging Het
Zfp148 T A 16: 33,496,819 (GRCm38) D578E probably damaging Het
Zfp735 A T 11: 73,711,856 (GRCm38) N542I probably damaging Het
Zfp735 A T 11: 73,711,855 (GRCm38) N542Y probably damaging Het
Zfp869 T A 8: 69,708,143 (GRCm38) E65D probably benign Het
Other mutations in Atp6v1h
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00671:Atp6v1h APN 1 5,124,471 (GRCm38) critical splice donor site probably null
IGL00984:Atp6v1h APN 1 5,095,682 (GRCm38) missense probably damaging 1.00
IGL01545:Atp6v1h APN 1 5,089,059 (GRCm38) missense probably benign
IGL01788:Atp6v1h APN 1 5,149,983 (GRCm38) missense possibly damaging 0.81
IGL02317:Atp6v1h APN 1 5,084,470 (GRCm38) missense possibly damaging 0.95
IGL02679:Atp6v1h APN 1 5,124,302 (GRCm38) missense probably damaging 1.00
IGL02944:Atp6v1h APN 1 5,093,355 (GRCm38) splice site probably benign
IGL03119:Atp6v1h APN 1 5,095,669 (GRCm38) missense probably benign 0.34
F5770:Atp6v1h UTSW 1 5,124,443 (GRCm38) missense possibly damaging 0.94
R0055:Atp6v1h UTSW 1 5,084,454 (GRCm38) missense probably benign 0.01
R0055:Atp6v1h UTSW 1 5,084,454 (GRCm38) missense probably benign 0.01
R0727:Atp6v1h UTSW 1 5,084,558 (GRCm38) nonsense probably null
R1452:Atp6v1h UTSW 1 5,098,137 (GRCm38) unclassified probably benign
R1465:Atp6v1h UTSW 1 5,095,688 (GRCm38) missense probably damaging 1.00
R1465:Atp6v1h UTSW 1 5,095,688 (GRCm38) missense probably damaging 1.00
R2273:Atp6v1h UTSW 1 5,117,476 (GRCm38) missense probably damaging 1.00
R4512:Atp6v1h UTSW 1 5,098,135 (GRCm38) critical splice donor site probably null
R5185:Atp6v1h UTSW 1 5,095,642 (GRCm38) missense probably damaging 1.00
R5628:Atp6v1h UTSW 1 5,135,889 (GRCm38) nonsense probably null
R5843:Atp6v1h UTSW 1 5,162,089 (GRCm38) splice site probably null
R7037:Atp6v1h UTSW 1 5,149,992 (GRCm38) missense possibly damaging 0.77
R7505:Atp6v1h UTSW 1 5,124,338 (GRCm38) missense probably benign
R9098:Atp6v1h UTSW 1 5,093,415 (GRCm38) missense probably damaging 1.00
R9291:Atp6v1h UTSW 1 5,150,061 (GRCm38) missense probably null 0.40
R9348:Atp6v1h UTSW 1 5,117,476 (GRCm38) missense probably damaging 1.00
V7580:Atp6v1h UTSW 1 5,124,443 (GRCm38) missense possibly damaging 0.94
V7581:Atp6v1h UTSW 1 5,124,443 (GRCm38) missense possibly damaging 0.94
V7582:Atp6v1h UTSW 1 5,124,443 (GRCm38) missense possibly damaging 0.94
V7583:Atp6v1h UTSW 1 5,124,443 (GRCm38) missense possibly damaging 0.94
Z1088:Atp6v1h UTSW 1 5,098,048 (GRCm38) missense probably damaging 1.00
Z1176:Atp6v1h UTSW 1 5,095,628 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2017-11-30