Incidental Mutation 'IGL02939:Atp6ap1'
ID365935
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp6ap1
Ensembl Gene ENSMUSG00000019087
Gene NameATPase, H+ transporting, lysosomal accessory protein 1
SynonymsVATPS1, XAP-3, Atp6s1, 16A, Atp6ip1, CF2, AC45
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02939
Quality Score
Status
ChromosomeX
Chromosomal Location74297097-74304721 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 74297318 bp
ZygosityHeterozygous
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] [ENSMUST00000147275] [ENSMUST00000147900]
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: 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
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
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
9330182L06Rik T C 5: 9,461,478 Y947H probably damaging Het
Atr T C 9: 95,865,261 F199L probably benign Het
Bivm C A 1: 44,142,960 H443N probably benign Het
Btnl2 A T 17: 34,361,069 H192L probably benign Het
Ccdc178 A T 18: 22,120,718 C155S probably benign Het
Celsr1 C A 15: 85,901,472 V2934L probably benign Het
Celsr3 T C 9: 108,849,453 S3294P probably damaging Het
Ddx10 T A 9: 53,204,279 E585V possibly damaging Het
Eps15l1 A T 8: 72,384,762 probably benign Het
Erlin1 G T 19: 44,063,052 T70K probably damaging Het
Ext2 A T 2: 93,704,619 probably null Het
Fam124a G A 14: 62,555,919 probably null Het
Fam53a T C 5: 33,607,759 D201G probably damaging Het
Fgf14 C T 14: 124,132,479 G136D possibly damaging Het
Gdi2 A T 13: 3,564,623 T323S probably benign Het
Gemin5 A T 11: 58,156,730 N339K probably damaging Het
Golga4 A C 9: 118,534,632 K233T probably damaging Het
Golga4 A G 9: 118,535,454 E286G probably benign Het
Gosr1 A G 11: 76,750,906 probably benign Het
Haus8 A G 8: 71,255,717 probably benign Het
Itgb3bp T C 4: 99,802,136 T49A probably null Het
Ldlrad4 A G 18: 68,254,514 D299G probably damaging Het
Lpo A G 11: 87,815,178 M273T possibly damaging Het
Map3k4 T A 17: 12,272,149 S132C probably damaging Het
Mycbp2 T G 14: 103,177,279 T2566P probably benign Het
Nalcn T C 14: 123,298,872 E1255G probably null Het
Nop56 A T 2: 130,278,197 K157N probably damaging Het
Olfr802 A T 10: 129,681,988 Y250* probably null Het
Olfr979 C T 9: 40,000,898 E110K probably benign Het
Pcdh15 A G 10: 74,504,816 probably benign Het
Pi4ka T C 16: 17,354,210 H557R probably damaging Het
Plekha4 C T 7: 45,532,363 Q64* probably null Het
Ppp2r3c G A 12: 55,298,407 probably benign Het
Rgmb C T 17: 15,807,493 M321I probably benign Het
Rnf31 T C 14: 55,595,674 S363P probably benign Het
Sap18b T A 8: 95,825,701 M113K probably benign Het
Scara3 T A 14: 65,931,656 M171L probably benign Het
Slc9a2 T G 1: 40,742,703 M364R probably damaging Het
Sorcs1 C T 19: 50,677,930 W180* probably null Het
Stat6 T A 10: 127,646,940 M10K probably benign Het
Sun1 T C 5: 139,235,488 probably benign Het
Tead2 T C 7: 45,220,434 probably benign Het
Tjp1 T G 7: 65,314,890 E844D probably damaging Het
Tmtc2 A G 10: 105,370,550 S295P probably damaging Het
Ttn G A 2: 76,782,412 R17108C probably damaging Het
Ubr1 T C 2: 120,881,183 probably null Het
Vmn2r108 T A 17: 20,471,283 H326L probably benign Het
Xdh A G 17: 73,943,845 probably null Het
Zfp385b A G 2: 77,412,059 S439P probably benign Het
Zfp597 G A 16: 3,865,941 S317L probably benign Het
Zfp638 A G 6: 83,969,232 D1081G probably damaging Het
Zfp93 C T 7: 24,275,084 H165Y possibly damaging Het
Other mutations in Atp6ap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3833:Atp6ap1 UTSW X 74297207 missense possibly damaging 0.64
X0063:Atp6ap1 UTSW X 74297276 missense probably benign 0.00
Posted On2015-12-18