Incidental Mutation 'IGL00505:Vdac3'
ID 14772
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Vdac3
Ensembl Gene ENSMUSG00000008892
Gene Name voltage-dependent anion channel 3
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.510) question?
Stock # IGL00505
Quality Score
Status
Chromosome 8
Chromosomal Location 23067091-23083829 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 23070393 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q60931
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
Abca15 T A 7: 119,968,459 (GRCm39) probably null Het
Akap6 A G 12: 52,933,885 (GRCm39) H459R possibly damaging Het
Anxa5 A G 3: 36,511,646 (GRCm39) S144P possibly damaging Het
Cacna1h T G 17: 25,600,482 (GRCm39) T1620P probably damaging Het
Cdc27 T G 11: 104,412,258 (GRCm39) T444P probably benign Het
Cfap46 C T 7: 139,240,605 (GRCm39) S56N probably damaging Het
Cntnap5b A G 1: 100,306,886 (GRCm39) R868G possibly damaging Het
Cyp2j5 A T 4: 96,519,012 (GRCm39) N421K probably damaging Het
Dhcr7 T C 7: 143,400,805 (GRCm39) Y323H probably damaging Het
Dnai4 G T 4: 102,960,439 (GRCm39) S70R possibly damaging Het
Gabrq T C X: 71,881,971 (GRCm39) S601P probably damaging Het
Gm3404 T A 5: 146,465,095 (GRCm39) D278E probably damaging Het
Gpr61 A G 3: 108,058,514 (GRCm39) M49T probably damaging Het
Map3k20 T C 2: 72,219,827 (GRCm39) F253S probably damaging Het
Ndst3 G A 3: 123,421,599 (GRCm39) probably benign Het
Rcor3 C T 1: 191,812,271 (GRCm39) probably benign Het
Slc15a2 C A 16: 36,574,137 (GRCm39) C572F probably benign Het
Sp2 C T 11: 96,845,387 (GRCm39) R578H probably damaging Het
Spaca1 A G 4: 34,029,077 (GRCm39) I132T probably damaging Het
Spag6 C A 2: 18,738,995 (GRCm39) N308K probably benign Het
Stac C T 9: 111,464,107 (GRCm39) R53Q probably damaging Het
Tekt3 A G 11: 62,961,064 (GRCm39) S78G probably benign Het
Wdr87-ps A C 7: 29,233,608 (GRCm39) noncoding transcript Het
Other mutations in Vdac3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0633:Vdac3 UTSW 8 23,070,404 (GRCm39) missense probably damaging 1.00
R1860:Vdac3 UTSW 8 23,070,515 (GRCm39) missense possibly damaging 0.87
R1861:Vdac3 UTSW 8 23,070,515 (GRCm39) missense possibly damaging 0.87
R1865:Vdac3 UTSW 8 23,070,553 (GRCm39) nonsense probably null
R3777:Vdac3 UTSW 8 23,070,525 (GRCm39) missense probably benign 0.01
R6221:Vdac3 UTSW 8 23,078,759 (GRCm39) missense possibly damaging 0.62
R6821:Vdac3 UTSW 8 23,070,491 (GRCm39) missense probably damaging 1.00
R7882:Vdac3 UTSW 8 23,069,073 (GRCm39) missense probably damaging 1.00
R9304:Vdac3 UTSW 8 23,070,568 (GRCm39) missense probably damaging 0.98
R9635:Vdac3 UTSW 8 23,077,575 (GRCm39) missense probably damaging 0.99
Posted On 2012-12-06