Incidental Mutation 'IGL02939:Atp6ap1'
ID 365935
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp6ap1
Ensembl Gene ENSMUSG00000019087
Gene Name ATPase, H+ transporting, lysosomal accessory protein 1
Synonyms CF2, Atp6ip1, 16A, Atp6s1, AC45, VATPS1, XAP-3
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02939
Quality Score
Status
Chromosome X
Chromosomal Location 73340703-73348327 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73340924 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 47 (D47G)
Ref Sequence ENSEMBL: ENSMUSP00000117006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019231] [ENSMUST00000114171] [ENSMUST00000124797] [ENSMUST00000147900] [ENSMUST00000147275]
AlphaFold Q9R1Q9
Predicted Effect probably benign
Transcript: ENSMUST00000019231
AA Change: D47G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000019231
Gene: ENSMUSG00000019087
AA Change: D47G

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
low complexity region 161 175 N/A INTRINSIC
transmembrane domain 419 441 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114171
AA Change: D47G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000109808
Gene: ENSMUSG00000019087
AA Change: D47G

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:ATP-synt_S1 38 405 1.1e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124797
AA Change: D29G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000118722
Gene: ENSMUSG00000019087
AA Change: D29G

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:ATP-synt_S1 20 100 2.9e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135914
Predicted Effect unknown
Transcript: ENSMUST00000136056
AA Change: D19G
SMART Domains Protein: ENSMUSP00000117604
Gene: ENSMUSG00000019087
AA Change: D19G

DomainStartEndE-ValueType
low complexity region 1 7 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144075
Predicted Effect probably benign
Transcript: ENSMUST00000147900
AA Change: D47G

PolyPhen 2 Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000117006
Gene: ENSMUSG00000019087
AA Change: D47G

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:ATP-synt_S1 38 224 1.2e-60 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147275
AA Change: D47G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000116162
Gene: ENSMUSG00000019087
AA Change: D47G

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:ATP-synt_S1 38 157 3.2e-38 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 a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, and receptor-mediated endocytosis. The encoded protein of this gene may assist in the V-ATPase-mediated acidification of neuroendocrine secretory granules. This protein may also play a role in early development. [provided by RefSeq, Aug 2013]
PHENOTYPE: A targeted mutation in this X-linked gene was made in male ES cells, but no viable chimeric mice were produced, suggesting a requirement for this gene in prenatal development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atr T C 9: 95,747,314 (GRCm39) F199L probably benign Het
Bivm C A 1: 44,182,120 (GRCm39) H443N probably benign Het
Btnl2 A T 17: 34,580,043 (GRCm39) H192L probably benign Het
Ccdc178 A T 18: 22,253,775 (GRCm39) C155S probably benign Het
Celsr1 C A 15: 85,785,673 (GRCm39) V2934L probably benign Het
Celsr3 T C 9: 108,726,652 (GRCm39) S3294P probably damaging Het
Ddx10 T A 9: 53,115,579 (GRCm39) E585V possibly damaging Het
Elapor2 T C 5: 9,511,478 (GRCm39) Y947H probably damaging Het
Eps15l1 A T 8: 73,138,606 (GRCm39) probably benign Het
Erlin1 G T 19: 44,051,491 (GRCm39) T70K probably damaging Het
Ext2 A T 2: 93,534,964 (GRCm39) probably null Het
Fam124a G A 14: 62,793,368 (GRCm39) probably null Het
Fam53a T C 5: 33,765,103 (GRCm39) D201G probably damaging Het
Fgf14 C T 14: 124,369,891 (GRCm39) G136D possibly damaging Het
Gdi2 A T 13: 3,614,623 (GRCm39) T323S probably benign Het
Gemin5 A T 11: 58,047,556 (GRCm39) N339K probably damaging Het
Golga4 A G 9: 118,364,522 (GRCm39) E286G probably benign Het
Golga4 A C 9: 118,363,700 (GRCm39) K233T probably damaging Het
Gosr1 A G 11: 76,641,732 (GRCm39) probably benign Het
Haus8 A G 8: 71,708,361 (GRCm39) probably benign Het
Itgb3bp T C 4: 99,690,373 (GRCm39) T49A probably null Het
Ldlrad4 A G 18: 68,387,585 (GRCm39) D299G probably damaging Het
Lpo A G 11: 87,706,004 (GRCm39) M273T possibly damaging Het
Map3k4 T A 17: 12,491,036 (GRCm39) S132C probably damaging Het
Mycbp2 T G 14: 103,414,715 (GRCm39) T2566P probably benign Het
Nalcn T C 14: 123,536,284 (GRCm39) E1255G probably null Het
Nop56 A T 2: 130,120,117 (GRCm39) K157N probably damaging Het
Or10g9 C T 9: 39,912,194 (GRCm39) E110K probably benign Het
Or6c1 A T 10: 129,517,857 (GRCm39) Y250* probably null Het
Pcdh15 A G 10: 74,340,648 (GRCm39) probably benign Het
Pi4ka T C 16: 17,172,074 (GRCm39) H557R probably damaging Het
Plekha4 C T 7: 45,181,787 (GRCm39) Q64* probably null Het
Ppp2r3c G A 12: 55,345,192 (GRCm39) probably benign Het
Rgmb C T 17: 16,027,755 (GRCm39) M321I probably benign Het
Rnf31 T C 14: 55,833,131 (GRCm39) S363P probably benign Het
Sap18b T A 8: 96,552,329 (GRCm39) M113K probably benign Het
Scara3 T A 14: 66,169,105 (GRCm39) M171L probably benign Het
Slc9a2 T G 1: 40,781,863 (GRCm39) M364R probably damaging Het
Sorcs1 C T 19: 50,666,368 (GRCm39) W180* probably null Het
Stat6 T A 10: 127,482,809 (GRCm39) M10K probably benign Het
Sun1 T C 5: 139,221,243 (GRCm39) probably benign Het
Tead2 T C 7: 44,869,858 (GRCm39) probably benign Het
Tjp1 T G 7: 64,964,638 (GRCm39) E844D probably damaging Het
Tmtc2 A G 10: 105,206,411 (GRCm39) S295P probably damaging Het
Ttn G A 2: 76,612,756 (GRCm39) R17108C probably damaging Het
Ubr1 T C 2: 120,711,664 (GRCm39) probably null Het
Vmn2r108 T A 17: 20,691,545 (GRCm39) H326L probably benign Het
Xdh A G 17: 74,250,840 (GRCm39) probably null Het
Zfp385b A G 2: 77,242,403 (GRCm39) S439P probably benign Het
Zfp597 G A 16: 3,683,805 (GRCm39) S317L probably benign Het
Zfp638 A G 6: 83,946,214 (GRCm39) D1081G probably damaging Het
Zfp93 C T 7: 23,974,509 (GRCm39) H165Y possibly damaging Het
Other mutations in Atp6ap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3833:Atp6ap1 UTSW X 73,340,813 (GRCm39) missense possibly damaging 0.64
X0063:Atp6ap1 UTSW X 73,340,882 (GRCm39) missense probably benign 0.00
Posted On 2015-12-18