Incidental Mutation 'R8508:Atp6v1a'
ID 655726
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 067844-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R8508 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 43905765-43960055 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 43922225 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 338 (R338C)
Ref Sequence ENSEMBL: ENSMUSP00000066886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063661] [ENSMUST00000114666]
AlphaFold P50516
Predicted Effect probably damaging
Transcript: ENSMUST00000063661
AA Change: R338C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066886
Gene: ENSMUSG00000052459
AA Change: R338C

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 damaging
Transcript: ENSMUST00000114666
AA Change: R338C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110314
Gene: ENSMUSG00000052459
AA Change: R338C

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.0%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T G 16: 90,852,500 (GRCm39) Y212S probably damaging Het
Angpt1 T C 15: 42,375,795 (GRCm39) N154D probably damaging Het
Angpt2 G A 8: 18,791,135 (GRCm39) R54* probably null Het
Ankrd27 T A 7: 35,301,051 (GRCm39) L117* probably null Het
Arhgap21 C T 2: 20,858,991 (GRCm39) M1234I probably benign Het
Arhgef33 A G 17: 80,674,764 (GRCm39) E387G probably damaging Het
Atp13a4 T A 16: 29,273,587 (GRCm39) K444* probably null Het
Canx T C 11: 50,202,474 (GRCm39) D44G possibly damaging Het
Ccdc141 T A 2: 76,962,588 (GRCm39) M119L probably benign Het
Ckmt1 A C 2: 121,193,172 (GRCm39) Q299P possibly damaging Het
Dhx16 T C 17: 36,196,812 (GRCm39) S601P probably damaging Het
Dna2 A C 10: 62,786,673 (GRCm39) R140S probably damaging Het
Dock1 A G 7: 134,384,138 (GRCm39) T670A probably benign Het
Eif1ad10 T G 12: 88,216,455 (GRCm39) E139A unknown Het
Eogt A G 6: 97,120,959 (GRCm39) S85P possibly damaging Het
Fbf1 A T 11: 116,056,707 (GRCm39) M1K probably null Het
Fbxl12 C A 9: 20,550,160 (GRCm39) R165L possibly damaging Het
Flnb G A 14: 7,950,394 (GRCm38) V2571I probably damaging Het
Gm43518 A G 5: 124,076,322 (GRCm39) E123G unknown Het
Gpatch2 A G 1: 187,036,552 (GRCm39) N374S probably benign Het
Hey1 G C 3: 8,729,836 (GRCm39) A207G probably benign Het
Hoxa11 T C 6: 52,222,782 (GRCm39) probably benign Het
Hydin G A 8: 111,308,650 (GRCm39) V3979I probably benign Het
Ighe C T 12: 113,235,413 (GRCm39) W277* probably null Het
Kmt2c G T 5: 25,519,120 (GRCm39) T2330K probably benign Het
Krt6a T A 15: 101,601,170 (GRCm39) K261M probably damaging Het
Lats2 A C 14: 57,960,162 (GRCm39) S161A probably benign Het
Med13l T A 5: 118,892,386 (GRCm39) D1936E probably benign Het
Mipol1 T C 12: 57,352,874 (GRCm39) V71A possibly damaging Het
Mphosph8 A T 14: 56,914,003 (GRCm39) K415* probably null Het
Npepps A G 11: 97,135,252 (GRCm39) probably null Het
Ntn4 A T 10: 93,576,966 (GRCm39) N545Y possibly damaging Het
Or11g1 A C 14: 50,651,132 (GRCm39) M44L probably benign Het
Or1n1b A G 2: 36,780,366 (GRCm39) S165P probably damaging Het
Or2m12 T C 16: 19,105,451 (GRCm39) D14G probably benign Het
Or9i2 A T 19: 13,815,766 (GRCm39) M257K possibly damaging Het
Osbpl2 T A 2: 179,797,136 (GRCm39) V358E possibly damaging Het
Pdcd11 C A 19: 47,108,245 (GRCm39) P1204Q probably damaging Het
Pnliprp2 A C 19: 58,751,806 (GRCm39) S184R probably damaging Het
Ppm1g G T 5: 31,361,872 (GRCm39) R373S probably damaging Het
Rnf130 A G 11: 49,978,264 (GRCm39) D275G probably damaging Het
Rps18-ps5 A G 13: 28,441,694 (GRCm39) I26V probably benign Het
Setd5 T C 6: 113,098,048 (GRCm39) S696P probably damaging Het
Sgip1 A G 4: 102,772,268 (GRCm39) Q219R probably benign Het
Slc1a2 T C 2: 102,566,430 (GRCm39) probably null Het
Slc22a12 T C 19: 6,592,467 (GRCm39) T106A probably benign Het
Slc22a14 A G 9: 119,009,651 (GRCm39) L148P probably damaging Het
Slc2a9 A T 5: 38,539,421 (GRCm39) F375I probably damaging Het
Sorbs3 A T 14: 70,440,396 (GRCm39) D117E probably benign Het
Spata31d1e A G 13: 59,891,412 (GRCm39) L136P probably benign Het
Sphkap G A 1: 83,254,221 (GRCm39) T1176I probably damaging Het
Supt16 A T 14: 52,419,046 (GRCm39) V193D probably damaging Het
Sytl3 A G 17: 6,995,690 (GRCm39) T362A probably damaging Het
Tctn1 T A 5: 122,384,674 (GRCm39) Q410L probably benign Het
Trbc2 T C 6: 41,524,711 (GRCm39) Y133H Het
Ttc28 G A 5: 111,381,207 (GRCm39) D1240N probably benign Het
Vmn2r120 A G 17: 57,832,843 (GRCm39) V112A probably benign Het
Zfp354b A T 11: 50,814,297 (GRCm39) S209R probably benign Het
Zfp362 T C 4: 128,668,399 (GRCm39) H391R 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
R1777:Atp6v1a UTSW 16 43,935,068 (GRCm39) nonsense probably null
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
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'- ACCAAGGTATGCAGGGTATCC -3'
(R):5'- CAAAAGTGGCTCTTTGGTCTTC -3'

Sequencing Primer
(F):5'- CAAGGTATGCAGGGTATCCACTATC -3'
(R):5'- TAACATGTCTGGCCATGGAAC -3'
Posted On 2020-10-20