Incidental Mutation 'IGL01914:Atp6v1b2'
ID179891
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp6v1b2
Ensembl Gene ENSMUSG00000006273
Gene NameATPase, H+ transporting, lysosomal V1 subunit B2
SynonymsAtp6b2, HO57
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01914
Quality Score
Status
Chromosome8
Chromosomal Location69088646-69113711 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to A at 69096280 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000006435 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006435]
Predicted Effect probably benign
Transcript: ENSMUST00000006435
SMART Domains Protein: ENSMUSP00000006435
Gene: ENSMUSG00000006273

DomainStartEndE-ValueType
Pfam:ATP-synt_ab_N 50 116 3.2e-14 PFAM
Pfam:ATP-synt_ab 173 399 1.9e-69 PFAM
Pfam:ATP-synt_ab_C 416 510 5.1e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125211
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153079
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153680
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, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of two V1 domain B subunit isoforms and is the only B isoform highly expressed in osteoclasts. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atf7 A T 15: 102,551,478 Y67* probably null Het
Cd24a T C 10: 43,582,703 S79P unknown Het
Col4a2 G A 8: 11,414,754 E340K possibly damaging Het
Dtna A T 18: 23,597,459 N301I possibly damaging Het
Ero1l T C 14: 45,306,612 D45G probably damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
H6pd A T 4: 149,994,463 probably benign Het
Htt A G 5: 34,829,709 T1091A probably benign Het
Msto1 T C 3: 88,912,903 E82G probably benign Het
Mup11 T A 4: 60,659,822 probably benign Het
Nlrp9a T A 7: 26,557,264 N13K probably benign Het
Nsun7 C T 5: 66,276,634 P209L probably damaging Het
Olfr1042 C T 2: 86,160,047 V108I probably benign Het
Olfr1045 G A 2: 86,198,672 L27F probably benign Het
Olfr209 A T 16: 59,361,931 C96S probably damaging Het
Pecam1 A G 11: 106,699,867 I27T possibly damaging Het
Prkcd T C 14: 30,607,426 E19G possibly damaging Het
Slc4a11 A T 2: 130,687,279 I417N probably damaging Het
Stat1 T C 1: 52,126,557 I104T probably benign Het
Stk17b T C 1: 53,761,067 N251D probably damaging Het
Ttll4 C T 1: 74,679,058 H23Y probably benign Het
Vmn2r79 A T 7: 87,037,363 T651S probably benign Het
Other mutations in Atp6v1b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Atp6v1b2 APN 8 69088934 splice site probably null
IGL00908:Atp6v1b2 APN 8 69096266 missense probably benign 0.00
IGL03010:Atp6v1b2 APN 8 69105882 missense probably damaging 0.97
IGL03376:Atp6v1b2 APN 8 69102159 splice site probably benign
R0127:Atp6v1b2 UTSW 8 69103460 missense probably damaging 1.00
R0427:Atp6v1b2 UTSW 8 69101432 missense probably damaging 1.00
R0523:Atp6v1b2 UTSW 8 69109985 missense possibly damaging 0.52
R1754:Atp6v1b2 UTSW 8 69101961 missense probably benign 0.25
R1932:Atp6v1b2 UTSW 8 69102807 nonsense probably null
R1954:Atp6v1b2 UTSW 8 69105903 missense possibly damaging 0.95
R2228:Atp6v1b2 UTSW 8 69102759 splice site probably null
R2229:Atp6v1b2 UTSW 8 69102759 splice site probably null
R4448:Atp6v1b2 UTSW 8 69102022 missense probably benign
R4738:Atp6v1b2 UTSW 8 69103410 missense probably benign
R5243:Atp6v1b2 UTSW 8 69103739 missense probably benign 0.07
R5388:Atp6v1b2 UTSW 8 69101437 missense probably benign 0.00
R5664:Atp6v1b2 UTSW 8 69107620 missense probably damaging 0.99
R5774:Atp6v1b2 UTSW 8 69101961 missense probably damaging 0.97
R5894:Atp6v1b2 UTSW 8 69107566 intron probably null
R6015:Atp6v1b2 UTSW 8 69102496 missense probably damaging 1.00
R6147:Atp6v1b2 UTSW 8 69102482 nonsense probably null
R6217:Atp6v1b2 UTSW 8 69109878 critical splice acceptor site probably null
R6636:Atp6v1b2 UTSW 8 69101374 missense probably damaging 1.00
R6637:Atp6v1b2 UTSW 8 69101374 missense probably damaging 1.00
R7032:Atp6v1b2 UTSW 8 69088896 missense probably benign 0.44
R7108:Atp6v1b2 UTSW 8 69102501 missense probably damaging 1.00
R7184:Atp6v1b2 UTSW 8 69102567 missense possibly damaging 0.55
R7578:Atp6v1b2 UTSW 8 69103476 missense probably benign 0.01
Posted On2014-05-07