Incidental Mutation 'R8414:Vdac1'
ID 652845
Institutional Source Beutler Lab
Gene Symbol Vdac1
Ensembl Gene ENSMUSG00000020402
Gene Name voltage-dependent anion channel 1
Synonyms Vdac5
MMRRC Submission 067768-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.844) question?
Stock # R8414 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 52251905-52280224 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 52267330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 77 (T77I)
Ref Sequence ENSEMBL: ENSMUSP00000099819 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020673] [ENSMUST00000102758] [ENSMUST00000125694]
AlphaFold Q60932
PDB Structure The Crystal Structure of Mouse VDAC1 at 2.3 A resolution [X-RAY DIFFRACTION]
ATP binding to murine voltage-dependent anion channel 1 (mVDAC1). [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020673
AA Change: T90I

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000020673
Gene: ENSMUSG00000020402
AA Change: T90I

DomainStartEndE-ValueType
Pfam:Porin_3 16 289 1.7e-85 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000102758
AA Change: T77I

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099819
Gene: ENSMUSG00000020402
AA Change: T77I

DomainStartEndE-ValueType
Pfam:Porin_3 3 276 7.6e-80 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000125694
AA Change: T77I

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000116919
Gene: ENSMUSG00000020402
AA Change: T77I

DomainStartEndE-ValueType
Pfam:Porin_3 3 235 1.7e-66 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a voltage-dependent anion channel protein that is a major component of the outer mitochondrial membrane. The encoded protein facilitates the exchange of metabolites and ions across the outer mitochondrial membrane and may regulate mitochondrial functions. This protein also forms channels in the plasma membrane and may be involved in transmembrane electron transport. Multiple pseudogenes of this gene are found on chromosomes 1, 2, 3, 6, 8, 9, and X. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mutants exhibit approximately 60% embryonic mortality, with loss occurring at embryonic day 10.5-11.5. Survivors exhibit defective cued fear conditioning and spatial learning. Heterozygotes also exhibit about 12% prenatal mortality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA467197 T C 2: 122,480,237 (GRCm39) Y33H probably damaging Het
Abcc10 T C 17: 46,623,273 (GRCm39) R880G probably benign Het
Abcg2 T A 6: 58,646,221 (GRCm39) Y246N probably benign Het
Abhd18 A G 3: 40,888,061 (GRCm39) M302V probably benign Het
Ablim2 A G 5: 36,032,235 (GRCm39) D568G possibly damaging Het
Alpk2 T C 18: 65,440,542 (GRCm39) R284G possibly damaging Het
AU021092 T C 16: 5,034,649 (GRCm39) Y191C probably damaging Het
Bdp1 T A 13: 100,200,985 (GRCm39) T751S probably benign Het
Brme1 A T 8: 84,893,952 (GRCm39) E373V probably damaging Het
Ccdc136 A G 6: 29,412,929 (GRCm39) E438G probably damaging Het
Cul2 C A 18: 3,399,912 (GRCm39) N15K probably benign Het
Eml2 C A 7: 18,913,220 (GRCm39) Q73K probably damaging Het
Epha6 C A 16: 59,826,030 (GRCm39) R588S probably damaging Het
Eppk1 C T 15: 75,994,319 (GRCm39) R854Q probably benign Het
Fbxw28 C T 9: 109,155,604 (GRCm39) W389* probably null Het
Fcgbpl1 T A 7: 27,842,158 (GRCm39) C698S probably damaging Het
Gbp4 A T 5: 105,284,703 (GRCm39) V62E probably benign Het
Gtf2h1 C A 7: 46,464,768 (GRCm39) T401K possibly damaging Het
Hif1a G T 12: 73,984,428 (GRCm39) M294I probably benign Het
Irak2 A G 6: 113,663,903 (GRCm39) N484S probably benign Het
Kcnj16 A G 11: 110,916,441 (GRCm39) T368A probably benign Het
Kcnq1 G A 7: 142,917,403 (GRCm39) G588D probably damaging Het
Kcnq5 G A 1: 21,549,648 (GRCm39) R360C probably damaging Het
Nckap5 T G 1: 125,942,357 (GRCm39) E1582D probably damaging Het
Nrip3 A G 7: 109,362,735 (GRCm39) I183T possibly damaging Het
Or10g9 T A 9: 39,912,241 (GRCm39) H94L probably benign Het
Or4c117 A G 2: 88,956,058 (GRCm39) F6L probably benign Het
Pcdha2 C T 18: 37,074,619 (GRCm39) S750L probably damaging Het
Pik3r2 T C 8: 71,223,079 (GRCm39) Y447C probably damaging Het
Poteg T C 8: 27,938,068 (GRCm39) Y75H probably benign Het
Proser1 G C 3: 53,385,977 (GRCm39) G620R probably damaging Het
Prpsap1 A T 11: 116,369,439 (GRCm39) L164H probably damaging Het
Rfc3 A T 5: 151,568,381 (GRCm39) V195E possibly damaging Het
Sarm1 A T 11: 78,378,794 (GRCm39) V417D probably damaging Het
She A G 3: 89,739,174 (GRCm39) T122A probably benign Het
Spata31e1 A G 13: 49,941,273 (GRCm39) S56P probably damaging Het
Srpra A G 9: 35,126,133 (GRCm39) E442G probably benign Het
Sult2a6 T A 7: 13,984,357 (GRCm39) R124S probably damaging Het
Synm T C 7: 67,383,511 (GRCm39) T1384A probably benign Het
Tenm3 A G 8: 48,746,544 (GRCm39) V1087A probably damaging Het
Ticam1 T A 17: 56,578,340 (GRCm39) I252L probably benign Het
Trbv31 C A 6: 41,534,697 (GRCm39) D89Y possibly damaging Het
Trpc7 G A 13: 56,970,282 (GRCm39) T434I probably benign Het
Tubgcp4 T A 2: 121,024,634 (GRCm39) I603N probably benign Het
Ugt3a1 A G 15: 9,310,669 (GRCm39) N317S possibly damaging Het
Vmn2r113 A T 17: 23,177,753 (GRCm39) R846* probably null Het
Zc3h12d GCCC GCC 10: 7,715,735 (GRCm39) probably null Het
Zranb2 G T 3: 157,252,312 (GRCm39) R310S unknown Het
Other mutations in Vdac1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01350:Vdac1 APN 11 52,276,489 (GRCm39) missense probably benign 0.02
IGL02057:Vdac1 APN 11 52,267,371 (GRCm39) critical splice donor site probably null
IGL03223:Vdac1 APN 11 52,267,482 (GRCm39) missense probably benign
IGL03225:Vdac1 APN 11 52,267,482 (GRCm39) missense probably benign
R0362:Vdac1 UTSW 11 52,265,800 (GRCm39) splice site probably benign
R1612:Vdac1 UTSW 11 52,274,897 (GRCm39) missense probably benign 0.03
R1694:Vdac1 UTSW 11 52,265,190 (GRCm39) missense probably damaging 0.96
R2512:Vdac1 UTSW 11 52,274,904 (GRCm39) missense probably damaging 1.00
R3717:Vdac1 UTSW 11 52,267,473 (GRCm39) critical splice acceptor site probably null
R4592:Vdac1 UTSW 11 52,265,799 (GRCm39) splice site probably null
R5027:Vdac1 UTSW 11 52,279,305 (GRCm39) missense possibly damaging 0.75
R5209:Vdac1 UTSW 11 52,267,279 (GRCm39) missense probably damaging 0.99
R5256:Vdac1 UTSW 11 52,274,905 (GRCm39) critical splice donor site probably null
R5413:Vdac1 UTSW 11 52,265,794 (GRCm39) missense probably null 0.17
R5762:Vdac1 UTSW 11 52,278,280 (GRCm39) missense possibly damaging 0.77
R6276:Vdac1 UTSW 11 52,267,309 (GRCm39) missense possibly damaging 0.84
R6954:Vdac1 UTSW 11 52,277,200 (GRCm39) missense probably damaging 1.00
R7023:Vdac1 UTSW 11 52,265,193 (GRCm39) missense probably damaging 0.99
R7261:Vdac1 UTSW 11 52,265,761 (GRCm39) missense probably damaging 0.98
R8847:Vdac1 UTSW 11 52,267,230 (GRCm39) missense
R9276:Vdac1 UTSW 11 52,274,789 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGTTGCTTAAGGGCCTGGAC -3'
(R):5'- ATCCTCGTGGGTAAGGAGAAC -3'

Sequencing Primer
(F):5'- CTTAAGGGCCTGGACCAAGG -3'
(R):5'- AGGAGAACCTTACCCAGTGTTCG -3'
Posted On 2020-10-20