Incidental Mutation 'IGL01490:Atp6v0b'
ID 88837
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Atp6v0b
Ensembl Gene ENSMUSG00000033379
Gene Name ATPase, H+ transporting, lysosomal V0 subunit B
Synonyms VMA16, 2310024H13Rik, Atp6f
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # IGL01490
Quality Score
Status
Chromosome 4
Chromosomal Location 117741523-117744530 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 117742303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 150 (Q150*)
Ref Sequence ENSEMBL: ENSMUSP00000119988 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030265] [ENSMUST00000030266] [ENSMUST00000036380] [ENSMUST00000084325] [ENSMUST00000106421] [ENSMUST00000150204] [ENSMUST00000132073] [ENSMUST00000136596] [ENSMUST00000167443] [ENSMUST00000171548] [ENSMUST00000183773] [ENSMUST00000153358] [ENSMUST00000149868] [ENSMUST00000147845]
AlphaFold Q91V37
Predicted Effect probably benign
Transcript: ENSMUST00000030265
SMART Domains Protein: ENSMUSP00000030265
Gene: ENSMUSG00000028540

DomainStartEndE-ValueType
Pfam:Diphthamide_syn 54 375 2.8e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000030266
SMART Domains Protein: ENSMUSP00000030266
Gene: ENSMUSG00000028541

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Glyco_transf_7N 94 228 4.2e-59 PFAM
Pfam:Glyco_transf_7C 232 310 2.1e-32 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000036380
AA Change: Q197*
SMART Domains Protein: ENSMUSP00000047682
Gene: ENSMUSG00000033379
AA Change: Q197*

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:ATP-synt_C 50 112 1.2e-15 PFAM
Pfam:ATP-synt_C 136 198 1.8e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000084325
SMART Domains Protein: ENSMUSP00000081352
Gene: ENSMUSG00000028541

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Glyco_transf_7N 94 230 1.9e-47 PFAM
Pfam:Glyco_transf_7C 232 310 2.6e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106421
SMART Domains Protein: ENSMUSP00000102029
Gene: ENSMUSG00000028541

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Glyco_transf_7N 94 230 1.9e-47 PFAM
Pfam:Glyco_transf_7C 232 310 2.6e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124974
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128263
Predicted Effect probably null
Transcript: ENSMUST00000150204
AA Change: Q150*
SMART Domains Protein: ENSMUSP00000119988
Gene: ENSMUSG00000033379
AA Change: Q150*

DomainStartEndE-ValueType
Pfam:ATP-synt_C 2 67 8.2e-19 PFAM
Pfam:ATP-synt_C 88 152 1.4e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152356
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133530
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139332
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137016
Predicted Effect probably benign
Transcript: ENSMUST00000132073
SMART Domains Protein: ENSMUSP00000137654
Gene: ENSMUSG00000033379

DomainStartEndE-ValueType
Pfam:ATP-synt_C 2 67 1.4e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000136596
Predicted Effect probably benign
Transcript: ENSMUST00000167443
SMART Domains Protein: ENSMUSP00000128771
Gene: ENSMUSG00000028541

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Glyco_transf_7N 94 188 1.1e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171548
SMART Domains Protein: ENSMUSP00000126539
Gene: ENSMUSG00000028541

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183773
Predicted Effect probably benign
Transcript: ENSMUST00000153358
SMART Domains Protein: ENSMUSP00000120571
Gene: ENSMUSG00000028541

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:Glyco_transf_7N 94 197 9.5e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149868
SMART Domains Protein: ENSMUSP00000137788
Gene: ENSMUSG00000033379

DomainStartEndE-ValueType
Pfam:ATP-synt_C 2 67 3.1e-19 PFAM
transmembrane domain 84 106 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147845
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 portion of the V0 domain of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Activity of this enzyme is necessary for such varied processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,336,023 (GRCm39) Y2131C probably damaging Het
Ano6 T A 15: 95,846,291 (GRCm39) S510T probably benign Het
Asb16 A T 11: 102,167,575 (GRCm39) N314Y probably damaging Het
Chct1 A G 11: 85,069,138 (GRCm39) D52G probably damaging Het
Clca3a1 C T 3: 144,713,539 (GRCm39) M697I probably benign Het
Cmklr2 T C 1: 63,222,455 (GRCm39) Y260C probably damaging Het
Crim1 A G 17: 78,642,725 (GRCm39) D481G possibly damaging Het
Dnajb2 T C 1: 75,213,534 (GRCm39) S3P probably damaging Het
Dnajb9 A T 12: 44,253,869 (GRCm39) S179R possibly damaging Het
Dock2 A T 11: 34,596,608 (GRCm39) I416N probably damaging Het
Dock7 G T 4: 98,833,355 (GRCm39) probably benign Het
Eif6 T C 2: 155,668,102 (GRCm39) I46V probably benign Het
Fcgr1 T C 3: 96,191,686 (GRCm39) D374G probably benign Het
Gatad2b A G 3: 90,259,385 (GRCm39) I374V possibly damaging Het
Gfpt2 T C 11: 49,717,954 (GRCm39) probably benign Het
H2-M10.2 G T 17: 36,596,377 (GRCm39) T156K probably damaging Het
Il20rb T A 9: 100,355,207 (GRCm39) I79F probably damaging Het
Kcnip3 C T 2: 127,352,799 (GRCm39) R44H probably benign Het
Lama1 A T 17: 68,057,579 (GRCm39) D551V possibly damaging Het
Mex3b C A 7: 82,519,035 (GRCm39) P450Q possibly damaging Het
Mmp20 T C 9: 7,628,330 (GRCm39) L26P probably benign Het
Msh3 G A 13: 92,436,813 (GRCm39) T499M probably damaging Het
Myo18b T C 5: 112,957,566 (GRCm39) S1466G possibly damaging Het
Myom3 A G 4: 135,538,089 (GRCm39) R1324G possibly damaging Het
Nxph3 A G 11: 95,401,919 (GRCm39) I165T possibly damaging Het
Prex2 G A 1: 11,254,769 (GRCm39) probably null Het
Ptpn6 T A 6: 124,705,307 (GRCm39) E208V probably damaging Het
Qpct T C 17: 79,397,169 (GRCm39) V354A probably benign Het
Rfx4 A G 10: 84,676,715 (GRCm39) I108V possibly damaging Het
Tmem67 A G 4: 12,057,422 (GRCm39) probably benign Het
Trappc12 A T 12: 28,796,914 (GRCm39) I206N probably damaging Het
Vmn1r173 A T 7: 23,402,132 (GRCm39) K122N probably benign Het
Wdr35 G T 12: 9,027,381 (GRCm39) G54V probably damaging Het
Zfyve26 A T 12: 79,291,147 (GRCm39) C2153S probably damaging Het
Other mutations in Atp6v0b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01556:Atp6v0b APN 4 117,743,062 (GRCm39) missense probably damaging 1.00
IGL01998:Atp6v0b APN 4 117,743,263 (GRCm39) critical splice donor site probably null
IGL02369:Atp6v0b APN 4 117,742,850 (GRCm39) missense possibly damaging 0.95
IGL02953:Atp6v0b APN 4 117,742,419 (GRCm39) missense probably damaging 1.00
PIT4362001:Atp6v0b UTSW 4 117,742,453 (GRCm39) missense possibly damaging 0.88
R0244:Atp6v0b UTSW 4 117,741,819 (GRCm39) missense probably damaging 1.00
R5636:Atp6v0b UTSW 4 117,743,582 (GRCm39) unclassified probably benign
R6974:Atp6v0b UTSW 4 117,742,864 (GRCm39) missense probably benign 0.19
R7581:Atp6v0b UTSW 4 117,742,483 (GRCm39) missense probably benign 0.00
R7851:Atp6v0b UTSW 4 117,743,062 (GRCm39) missense probably damaging 1.00
R7866:Atp6v0b UTSW 4 117,742,350 (GRCm39) missense probably damaging 1.00
X0057:Atp6v0b UTSW 4 117,743,820 (GRCm39) missense possibly damaging 0.62
Posted On 2013-11-18