Incidental Mutation 'IGL02691:Atp6v1a'
ID303771
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp6v1a
Ensembl Gene ENSMUSG00000052459
Gene NameATPase, H+ transporting, lysosomal V1 subunit A
SynonymsAtp6a1, VA68, VPP2, lysosomal 70kDa
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.968) question?
Stock #IGL02691
Quality Score
Status
Chromosome16
Chromosomal Location44085402-44139705 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 44111619 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 102 (I102T)
Ref Sequence ENSEMBL: ENSMUSP00000118429 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063661] [ENSMUST00000114666] [ENSMUST00000124102] [ENSMUST00000137557] [ENSMUST00000147025]
Predicted Effect probably damaging
Transcript: ENSMUST00000063661
AA Change: I102T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066886
Gene: ENSMUSG00000052459
AA Change: I102T

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: I102T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110314
Gene: ENSMUSG00000052459
AA Change: I102T

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 damaging
Transcript: ENSMUST00000124102
AA Change: I102T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118429
Gene: ENSMUSG00000052459
AA Change: I102T

DomainStartEndE-ValueType
Pfam:ATP-synt_ab_N 21 83 1.4e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130036
Predicted Effect probably damaging
Transcript: ENSMUST00000137557
AA Change: I102T

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000116923
Gene: ENSMUSG00000052459
AA Change: I102T

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

DomainStartEndE-ValueType
Pfam:ATP-synt_ab_N 21 77 3.6e-15 PFAM
Coding Region Coverage
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,761,664 S40P probably benign Het
Actl9 G T 17: 33,433,118 V51L probably damaging Het
Adcy6 A T 15: 98,604,304 F143Y probably damaging Het
Agps A T 2: 75,891,860 I465F probably benign Het
Armc3 T A 2: 19,235,484 F17L probably damaging Het
Arsk A C 13: 76,074,950 M176R probably damaging Het
Asz1 G A 6: 18,076,557 T212I probably damaging Het
Bpifb6 T A 2: 153,902,645 L2Q unknown Het
Cad A G 5: 31,055,294 Y45C probably damaging Het
Ccdc93 A G 1: 121,486,613 D451G possibly damaging Het
Cenpj A G 14: 56,552,090 I834T probably benign Het
Cyp2j12 C T 4: 96,132,994 probably null Het
Dhx8 G A 11: 101,752,004 probably benign Het
Dync1i1 A G 6: 5,800,767 probably benign Het
Ell2 T A 13: 75,756,486 D99E probably damaging Het
Enpp1 G T 10: 24,711,892 P34T probably damaging Het
Fras1 T A 5: 96,744,705 V2888E possibly damaging Het
Gm10451 T C 12: 76,451,299 noncoding transcript Het
Gmfg A G 7: 28,444,870 Y40C probably damaging Het
Gnal T C 18: 67,222,675 I369T probably damaging Het
Gzmn T C 14: 56,166,913 T156A probably benign Het
H2-DMb2 A T 17: 34,147,858 H88L probably benign Het
Ighv7-3 T C 12: 114,153,396 T49A probably benign Het
Jakmip3 C T 7: 139,026,844 Q450* probably null Het
Klhl20 A T 1: 161,106,874 probably benign Het
Klk6 A G 7: 43,828,500 T99A probably benign Het
Lhx3 A G 2: 26,203,085 C118R probably damaging Het
Mapkbp1 T C 2: 119,973,174 probably benign Het
Naa15 A G 3: 51,451,326 E294G probably damaging Het
Nfia C T 4: 98,081,808 Q373* probably null Het
Notch2 C A 3: 98,135,607 Y1429* probably null Het
Oc90 A G 15: 65,882,561 S252P probably damaging Het
Olfr1084 T C 2: 86,638,838 Y290C probably damaging Het
Olfr681 A G 7: 105,122,131 I225V probably damaging Het
Pde3b T A 7: 114,508,085 probably benign Het
Pdss1 G A 2: 22,915,241 V211I probably benign Het
Phactr1 G T 13: 43,077,737 M226I probably benign Het
Phf11c A G 14: 59,384,787 S259P probably damaging Het
Phf20l1 A G 15: 66,604,864 N269S probably damaging Het
Piezo1 A G 8: 122,501,949 V229A possibly damaging Het
Plcb2 T C 2: 118,710,963 K997R probably benign Het
Ppm1m A T 9: 106,195,369 V449E probably damaging Het
Rbm12 C T 2: 156,095,560 probably benign Het
Rgs14 A G 13: 55,379,023 probably null Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Scamp5 G T 9: 57,451,377 R39S probably damaging Het
Slc5a6 C T 5: 31,042,174 V15I probably damaging Het
Snx25 A T 8: 46,105,265 V235E possibly damaging Het
Tdrd1 G T 19: 56,843,852 E400D probably damaging Het
Tln1 T C 4: 43,539,544 R1593G probably benign Het
Trdv2-2 T C 14: 53,961,582 F110L possibly damaging Het
Ush2a A C 1: 188,734,752 Y2871S probably damaging Het
Vars2 A C 17: 35,660,248 L592R probably damaging Het
Vipr2 T A 12: 116,136,229 C239S probably benign Het
Vmn1r200 A T 13: 22,395,258 D68V probably damaging Het
Vmn1r7 A T 6: 57,024,388 S296T probably benign Het
Vmn2r95 T C 17: 18,451,858 I619T probably benign Het
Other mutations in Atp6v1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Atp6v1a APN 16 44111583 missense probably benign 0.00
IGL01860:Atp6v1a APN 16 44099956 missense probably damaging 1.00
IGL03256:Atp6v1a APN 16 44111088 unclassified probably benign
IGL03307:Atp6v1a APN 16 44111559 missense possibly damaging 0.74
R0605:Atp6v1a UTSW 16 44111496 critical splice donor site probably null
R0696:Atp6v1a UTSW 16 44087471 missense probably benign
R0883:Atp6v1a UTSW 16 44101692 splice site probably benign
R1777:Atp6v1a UTSW 16 44114705 nonsense probably null
R2370:Atp6v1a UTSW 16 44107040 missense probably benign 0.10
R2932:Atp6v1a UTSW 16 44089043 missense probably benign 0.03
R3725:Atp6v1a UTSW 16 44101757 splice site probably benign
R4224:Atp6v1a UTSW 16 44101811 missense probably damaging 1.00
R5780:Atp6v1a UTSW 16 44114643 missense probably benign 0.01
R5945:Atp6v1a UTSW 16 44099946 missense probably damaging 0.99
R6032:Atp6v1a UTSW 16 44106940 missense probably damaging 1.00
R6032:Atp6v1a UTSW 16 44106940 missense probably damaging 1.00
R6036:Atp6v1a UTSW 16 44098831 missense probably benign 0.02
R6036:Atp6v1a UTSW 16 44098831 missense probably benign 0.02
R6387:Atp6v1a UTSW 16 44087443 missense possibly damaging 0.76
R6479:Atp6v1a UTSW 16 44098758 missense probably benign 0.00
R6756:Atp6v1a UTSW 16 44089058 missense probably benign 0.18
R7313:Atp6v1a UTSW 16 44114617 missense probably benign 0.00
Posted On2015-04-16