Incidental Mutation 'IGL00505:Vdac3'
ID14772
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vdac3
Ensembl Gene ENSMUSG00000008892
Gene Namevoltage-dependent anion channel 3
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.447) question?
Stock #IGL00505
Quality Score
Status
Chromosome8
Chromosomal Location22577075-22593813 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 22580377 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Serine at position 172 (G172S)
Ref Sequence ENSEMBL: ENSMUSP00000009036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009036] [ENSMUST00000179233]
Predicted Effect possibly damaging
Transcript: ENSMUST00000009036
AA Change: G172S

PolyPhen 2 Score 0.887 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000009036
Gene: ENSMUSG00000008892
AA Change: G172S

DomainStartEndE-ValueType
Pfam:Porin_3 3 276 3.5e-79 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000179233
AA Change: G173S

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136273
Gene: ENSMUSG00000008892
AA Change: G173S

DomainStartEndE-ValueType
Pfam:Porin_3 3 277 4.2e-85 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210096
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211222
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 voltage-dependent anion channel (VDAC), and belongs to the mitochondrial porin family. VDACs are small, integral membrane proteins that traverse the outer mitochondrial membrane and conduct ATP and other small metabolites. They are known to bind several kinases of intermediary metabolism, thought to be involved in translocation of adenine nucleotides, and are hypothesized to form part of the mitochondrial permeability transition pore, which results in the release of cytochrome c at the onset of apoptotic cell death. Alternatively transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mutants are male sterile with reduced sperm motility and structural defects in the majority of axonemes in epididymal sperm. Mutants of both genders show deficits in behavioral tests measuring contextual or cued fear conditioning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932431P20Rik A C 7: 29,534,183 noncoding transcript Het
Abca15 T A 7: 120,369,236 probably null Het
Akap6 A G 12: 52,887,102 H459R possibly damaging Het
Anxa5 A G 3: 36,457,497 S144P possibly damaging Het
Cacna1h T G 17: 25,381,508 T1620P probably damaging Het
Cdc27 T G 11: 104,521,432 T444P probably benign Het
Cfap46 C T 7: 139,660,689 S56N probably damaging Het
Cntnap5b A G 1: 100,379,161 R868G possibly damaging Het
Cyp2j5 A T 4: 96,630,775 N421K probably damaging Het
Dhcr7 T C 7: 143,847,068 Y323H probably damaging Het
Gabrq T C X: 72,838,365 S601P probably damaging Het
Gm3404 T A 5: 146,528,285 D278E probably damaging Het
Gpr61 A G 3: 108,151,198 M49T probably damaging Het
Map3k20 T C 2: 72,389,483 F253S probably damaging Het
Ndst3 G A 3: 123,627,950 probably benign Het
Rcor3 C T 1: 192,127,971 probably benign Het
Slc15a2 C A 16: 36,753,775 C572F probably benign Het
Sp2 C T 11: 96,954,561 R578H probably damaging Het
Spaca1 A G 4: 34,029,077 I132T probably damaging Het
Spag6 C A 2: 18,734,184 N308K probably benign Het
Stac C T 9: 111,635,039 R53Q probably damaging Het
Tekt3 A G 11: 63,070,238 S78G probably benign Het
Wdr78 G T 4: 103,103,242 S70R possibly damaging Het
Other mutations in Vdac3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0633:Vdac3 UTSW 8 22580388 missense probably damaging 1.00
R1860:Vdac3 UTSW 8 22580499 missense possibly damaging 0.87
R1861:Vdac3 UTSW 8 22580499 missense possibly damaging 0.87
R1865:Vdac3 UTSW 8 22580537 nonsense probably null
R3777:Vdac3 UTSW 8 22580509 missense probably benign 0.01
R6221:Vdac3 UTSW 8 22588743 missense possibly damaging 0.62
R6821:Vdac3 UTSW 8 22580475 missense probably damaging 1.00
Posted On2012-12-06