Incidental Mutation 'R1777:Atp6v1a'
ID 197167
Institutional Source Beutler Lab
Gene Symbol Atp6v1a
Ensembl Gene ENSMUSG00000052459
Gene Name ATPase, H+ transporting, lysosomal V1 subunit A
Synonyms Atp6a1, lysosomal 70kDa, VA68, VPP2
MMRRC Submission 039808-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R1777 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 43905765-43960055 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 43935068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 40 (Y40*)
Ref Sequence ENSEMBL: ENSMUSP00000118726 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063661] [ENSMUST00000114666] [ENSMUST00000124102] [ENSMUST00000137557] [ENSMUST00000147025]
AlphaFold P50516
Predicted Effect probably null
Transcript: ENSMUST00000063661
AA Change: Y40*
SMART Domains Protein: ENSMUSP00000066886
Gene: ENSMUSG00000052459
AA Change: Y40*

DomainStartEndE-ValueType
Pfam:ATP-synt_ab_N 21 83 8.5e-16 PFAM
low complexity region 206 217 N/A INTRINSIC
Pfam:ATP-synt_ab 229 455 4.4e-113 PFAM
Pfam:ATP-synt_ab_C 473 617 2.4e-29 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000114666
AA Change: Y40*
SMART Domains Protein: ENSMUSP00000110314
Gene: ENSMUSG00000052459
AA Change: Y40*

DomainStartEndE-ValueType
Pfam:ATP-synt_ab_N 21 83 2.4e-16 PFAM
Pfam:ATP-synt_ab_Xtn 99 221 3.3e-46 PFAM
Pfam:ATP-synt_ab 230 455 3.3e-110 PFAM
Pfam:ATP-synt_ab_C 473 617 2.4e-29 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000124102
AA Change: Y40*
SMART Domains Protein: ENSMUSP00000118429
Gene: ENSMUSG00000052459
AA Change: Y40*

DomainStartEndE-ValueType
Pfam:ATP-synt_ab_N 21 83 1.4e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130036
Predicted Effect probably null
Transcript: ENSMUST00000137557
AA Change: Y40*
SMART Domains Protein: ENSMUSP00000116923
Gene: ENSMUSG00000052459
AA Change: Y40*

DomainStartEndE-ValueType
Pfam:ATP-synt_ab_N 21 83 2e-17 PFAM
low complexity region 206 217 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000147025
AA Change: Y40*
SMART Domains Protein: ENSMUSP00000118726
Gene: ENSMUSG00000052459
AA Change: Y40*

DomainStartEndE-ValueType
Pfam:ATP-synt_ab_N 21 77 3.6e-15 PFAM
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 92.1%
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 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 A subunit isoforms and is found in all tissues. Transcript variants derived from alternative polyadenylation exist. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930444P10Rik T A 1: 16,148,813 (GRCm39) D111V possibly damaging Het
Ap2a1 G A 7: 44,553,576 (GRCm39) T597M probably damaging Het
Arhgap25 A G 6: 87,440,289 (GRCm39) S364P probably benign Het
Cdh1 T A 8: 107,383,467 (GRCm39) H235Q probably damaging Het
Cntln A G 4: 85,048,916 (GRCm39) E1376G probably benign Het
Cntnap5b T A 1: 100,297,803 (GRCm39) S781T probably benign Het
Cpne4 A G 9: 104,749,887 (GRCm39) T64A probably damaging Het
Ctsg T C 14: 56,338,058 (GRCm39) Y179C probably damaging Het
Cx3cr1 A G 9: 119,880,659 (GRCm39) Y248H probably damaging Het
Dhx37 T C 5: 125,506,995 (GRCm39) E167G probably benign Het
Dnajc21 C A 15: 10,449,693 (GRCm39) A443S probably benign Het
Drd5 T C 5: 38,477,504 (GRCm39) S166P probably damaging Het
Dscaml1 T C 9: 45,595,054 (GRCm39) L719P possibly damaging Het
Eif2ak4 T C 2: 118,261,320 (GRCm39) I542T probably damaging Het
Ephb3 G A 16: 21,035,985 (GRCm39) G291E probably damaging Het
Eva1a T A 6: 82,069,137 (GRCm39) Y155N probably damaging Het
Exog C T 9: 119,278,884 (GRCm39) P189L probably damaging Het
Fam13b A G 18: 34,590,813 (GRCm39) V455A possibly damaging Het
Fmn2 C A 1: 174,409,488 (GRCm39) Q574K unknown Het
Gm6871 A T 7: 41,195,143 (GRCm39) S531R probably benign Het
Golga2 T A 2: 32,195,482 (GRCm39) probably null Het
Hydin C T 8: 111,316,203 (GRCm39) P4365L probably benign Het
Ints8 A T 4: 11,225,600 (GRCm39) probably null Het
Kbtbd12 A C 6: 88,595,042 (GRCm39) S263A probably benign Het
Kcng4 T C 8: 120,360,226 (GRCm39) D50G probably benign Het
Klhl18 A T 9: 110,266,469 (GRCm39) C217S probably benign Het
Klk1b4 A G 7: 43,856,875 (GRCm39) probably benign Het
Klk7 G A 7: 43,462,753 (GRCm39) C186Y probably damaging Het
Krbox5 A T 13: 67,981,984 (GRCm39) R65S probably benign Het
Krit1 T C 5: 3,886,799 (GRCm39) Y635H probably damaging Het
Lipo4 A T 19: 33,476,721 (GRCm39) D342E probably damaging Het
Lsm14b T G 2: 179,673,588 (GRCm39) D199E probably benign Het
Map3k4 A T 17: 12,490,617 (GRCm39) N271K possibly damaging Het
Mast1 T A 8: 85,638,697 (GRCm39) N1544I probably benign Het
Megf6 T A 4: 154,355,147 (GRCm39) C1487* probably null Het
Mlh3 C A 12: 85,315,528 (GRCm39) K219N possibly damaging Het
Mtmr4 A G 11: 87,493,656 (GRCm39) K305E probably damaging Het
Myo15a A G 11: 60,405,762 (GRCm39) M3105V probably benign Het
Nbas A T 12: 13,563,563 (GRCm39) I1958F probably benign Het
Nepro A T 16: 44,556,216 (GRCm39) Q458L probably damaging Het
Opa3 T C 7: 18,978,837 (GRCm39) Y101H probably damaging Het
Or11g25 T A 14: 50,723,757 (GRCm39) F281I probably benign Het
Or14c41 T A 7: 86,235,272 (GRCm39) I263N probably benign Het
Or4f15 T A 2: 111,814,042 (GRCm39) I126L possibly damaging Het
Or51f1d T C 7: 102,700,583 (GRCm39) I26T probably benign Het
Or5ac16 A G 16: 59,022,379 (GRCm39) S137P probably benign Het
Or8b12 A G 9: 37,657,607 (GRCm39) Y59C possibly damaging Het
Pate3 T C 9: 35,559,412 (GRCm39) N2D probably benign Het
Pcdhb21 T A 18: 37,648,771 (GRCm39) D633E possibly damaging Het
Pgm2 C T 5: 64,285,125 (GRCm39) P589L probably benign Het
Pigg T A 5: 108,465,257 (GRCm39) D163E probably damaging Het
Polq A G 16: 36,880,586 (GRCm39) T638A possibly damaging Het
Prmt3 T A 7: 49,448,094 (GRCm39) M268K possibly damaging Het
Prmt9 T C 8: 78,291,737 (GRCm39) C370R probably benign Het
Prss57 A T 10: 79,623,219 (GRCm39) V76E possibly damaging Het
Psme3ip1 T C 8: 95,315,439 (GRCm39) E31G probably damaging Het
Pzp T C 6: 128,467,535 (GRCm39) E1089G possibly damaging Het
Qars1 T A 9: 108,385,400 (GRCm39) probably null Het
Ralgapb T C 2: 158,304,115 (GRCm39) Y625H probably damaging Het
Rgl2 G A 17: 34,150,718 (GRCm39) D59N probably benign Het
Robo1 T G 16: 72,801,555 (GRCm39) W1060G probably benign Het
Scaper A T 9: 55,771,830 (GRCm39) V362E probably benign Het
Schip1 T C 3: 68,525,017 (GRCm39) F131S probably damaging Het
Sh2b2 A T 5: 136,256,276 (GRCm39) V252D probably damaging Het
Shld2 C A 14: 33,990,130 (GRCm39) V259L probably benign Het
Slc17a6 A T 7: 51,295,957 (GRCm39) H199L possibly damaging Het
Slc29a1 A G 17: 45,898,234 (GRCm39) Y325H probably damaging Het
Slc29a4 G T 5: 142,699,817 (GRCm39) W156L probably damaging Het
Slc5a3 T A 16: 91,874,644 (GRCm39) S234T probably benign Het
Srd5a3 T G 5: 76,297,630 (GRCm39) V20G probably damaging Het
Stac A T 9: 111,433,150 (GRCm39) S223T possibly damaging Het
Sytl2 A T 7: 90,052,260 (GRCm39) T766S probably benign Het
Tas2r102 A G 6: 132,739,254 (GRCm39) D54G probably benign Het
Tbpl1 A G 10: 22,583,742 (GRCm39) V105A probably damaging Het
Tenm3 G T 8: 48,870,214 (GRCm39) P193Q probably benign Het
Tes G A 6: 17,104,754 (GRCm39) V403M probably benign Het
Tgfbr2 A C 9: 115,938,948 (GRCm39) I318S probably damaging Het
Tgfbr3 C A 5: 107,284,796 (GRCm39) V618L probably benign Het
Tmc1 C T 19: 20,793,473 (GRCm39) probably null Het
Tmem132a G A 19: 10,835,870 (GRCm39) H887Y probably damaging Het
Tmem43 C A 6: 91,454,312 (GRCm39) S33* probably null Het
Tob1 A G 11: 94,104,580 (GRCm39) K39E probably damaging Het
Tut7 A T 13: 59,939,635 (GRCm39) H705Q probably damaging Het
Unc79 T A 12: 103,078,714 (GRCm39) D1433E probably damaging Het
Usp25 T C 16: 76,878,442 (GRCm39) M622T probably damaging Het
Vmn1r158 A T 7: 22,489,855 (GRCm39) L118Q probably damaging Het
Vmn1r217 T A 13: 23,298,495 (GRCm39) I136L probably benign Het
Vmn2r15 A T 5: 109,442,136 (GRCm39) I99K possibly damaging Het
Vwa7 T A 17: 35,243,924 (GRCm39) V786E probably damaging Het
Xkr5 A G 8: 18,989,148 (GRCm39) F248S probably benign Het
Zzef1 A T 11: 72,801,098 (GRCm39) K2444M probably damaging Het
Other mutations in Atp6v1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Atp6v1a APN 16 43,931,946 (GRCm39) missense probably benign 0.00
IGL01860:Atp6v1a APN 16 43,920,319 (GRCm39) missense probably damaging 1.00
IGL02691:Atp6v1a APN 16 43,931,982 (GRCm39) missense probably damaging 1.00
IGL03256:Atp6v1a APN 16 43,931,451 (GRCm39) unclassified probably benign
IGL03307:Atp6v1a APN 16 43,931,922 (GRCm39) missense possibly damaging 0.74
R0605:Atp6v1a UTSW 16 43,931,859 (GRCm39) critical splice donor site probably null
R0696:Atp6v1a UTSW 16 43,907,834 (GRCm39) missense probably benign
R0883:Atp6v1a UTSW 16 43,922,055 (GRCm39) splice site probably benign
R2370:Atp6v1a UTSW 16 43,927,403 (GRCm39) missense probably benign 0.10
R2932:Atp6v1a UTSW 16 43,909,406 (GRCm39) missense probably benign 0.03
R3725:Atp6v1a UTSW 16 43,922,120 (GRCm39) splice site probably benign
R4224:Atp6v1a UTSW 16 43,922,174 (GRCm39) missense probably damaging 1.00
R5780:Atp6v1a UTSW 16 43,935,006 (GRCm39) missense probably benign 0.01
R5945:Atp6v1a UTSW 16 43,920,309 (GRCm39) missense probably damaging 0.99
R6032:Atp6v1a UTSW 16 43,927,303 (GRCm39) missense probably damaging 1.00
R6032:Atp6v1a UTSW 16 43,927,303 (GRCm39) missense probably damaging 1.00
R6036:Atp6v1a UTSW 16 43,919,194 (GRCm39) missense probably benign 0.02
R6036:Atp6v1a UTSW 16 43,919,194 (GRCm39) missense probably benign 0.02
R6387:Atp6v1a UTSW 16 43,907,806 (GRCm39) missense possibly damaging 0.76
R6479:Atp6v1a UTSW 16 43,919,121 (GRCm39) missense probably benign 0.00
R6756:Atp6v1a UTSW 16 43,909,421 (GRCm39) missense probably benign 0.18
R7313:Atp6v1a UTSW 16 43,934,980 (GRCm39) missense probably benign 0.00
R8508:Atp6v1a UTSW 16 43,922,225 (GRCm39) missense probably damaging 1.00
R8694:Atp6v1a UTSW 16 43,921,991 (GRCm39) missense probably damaging 1.00
R9448:Atp6v1a UTSW 16 43,931,872 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTGGATTCCGTGAAGTCTATGACACTG -3'
(R):5'- TGCTTATCTTTCAAGGGATAGCAGCAC -3'

Sequencing Primer
(F):5'- GTCTATGACACTGAATGTTAAGAGC -3'
(R):5'- GCTCTCAATTCCAATGTAAGTGCG -3'
Posted On 2014-05-23