Incidental Mutation 'R1612:Vdac1'
ID 176881
Institutional Source Beutler Lab
Gene Symbol Vdac1
Ensembl Gene ENSMUSG00000020402
Gene Name voltage-dependent anion channel 1
Synonyms Vdac5
MMRRC Submission 039649-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.844) question?
Stock # R1612 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 52251905-52280224 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 52274897 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 182 (T182S)
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 probably benign
Transcript: ENSMUST00000020673
AA Change: T195S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000020673
Gene: ENSMUSG00000020402
AA Change: T195S

DomainStartEndE-ValueType
Pfam:Porin_3 16 289 1.7e-85 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102758
AA Change: T182S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000099819
Gene: ENSMUSG00000020402
AA Change: T182S

DomainStartEndE-ValueType
Pfam:Porin_3 3 276 7.6e-80 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125694
AA Change: T182S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000116919
Gene: ENSMUSG00000020402
AA Change: T182S

DomainStartEndE-ValueType
Pfam:Porin_3 3 235 1.7e-66 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153339
Meta Mutation Damage Score 0.0813 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency 97% (69/71)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579G24Rik A G 3: 79,538,451 (GRCm39) T66A probably benign Het
Actb A G 5: 142,891,350 (GRCm39) F31S probably damaging Het
Adamts7 T C 9: 90,070,750 (GRCm39) S624P possibly damaging Het
Adh7 T C 3: 137,934,642 (GRCm39) I355T possibly damaging Het
Arhgef40 A G 14: 52,241,538 (GRCm39) E106G probably damaging Het
Brd10 A G 19: 29,695,245 (GRCm39) V1483A possibly damaging Het
Cabp7 T C 11: 4,689,198 (GRCm39) D149G probably damaging Het
Cass4 A T 2: 172,268,998 (GRCm39) Q362L possibly damaging Het
Cd14 G A 18: 36,858,718 (GRCm39) Q246* probably null Het
Cdr2l A C 11: 115,284,232 (GRCm39) E189D probably benign Het
Col6a6 A G 9: 105,654,748 (GRCm39) V991A probably damaging Het
Coq7 A G 7: 118,109,134 (GRCm39) W305R unknown Het
Cracr2a G T 6: 127,580,892 (GRCm39) G23* probably null Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Epcam T C 17: 87,947,366 (GRCm39) L40P possibly damaging Het
Eps8 G A 6: 137,477,616 (GRCm39) P531S probably benign Het
Faap100 C A 11: 120,267,914 (GRCm39) L286F probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fbn2 A T 18: 58,194,824 (GRCm39) C1446S probably damaging Het
Fmo3 A G 1: 162,795,454 (GRCm39) V127A probably damaging Het
Frem3 A G 8: 81,341,490 (GRCm39) D1261G probably damaging Het
Gabbr1 A G 17: 37,381,561 (GRCm39) Y775C probably damaging Het
Gbp11 G T 5: 105,474,462 (GRCm39) Q405K possibly damaging Het
Gdi2 T A 13: 3,610,051 (GRCm39) V260E probably benign Het
Glp2r C T 11: 67,633,033 (GRCm39) V98M possibly damaging Het
Gm13741 T C 2: 87,486,431 (GRCm39) Y278C probably damaging Het
Gm7732 G A 17: 21,350,177 (GRCm39) noncoding transcript Het
Gnptab T A 10: 88,264,344 (GRCm39) probably null Het
Hbs1l T G 10: 21,234,734 (GRCm39) F596V probably damaging Het
Krt78 A T 15: 101,860,279 (GRCm39) probably null Het
Krt87 A T 15: 101,386,092 (GRCm39) L223Q probably benign Het
Lcmt2 T C 2: 120,969,601 (GRCm39) Y274C probably damaging Het
Limd1 A G 9: 123,347,219 (GRCm39) Y620C probably damaging Het
Lvrn G T 18: 47,027,770 (GRCm39) A862S probably damaging Het
Map4k2 A G 19: 6,393,371 (GRCm39) E206G probably damaging Het
Med16 A G 10: 79,735,079 (GRCm39) S461P probably damaging Het
Mrfap1 C A 5: 36,953,706 (GRCm39) A78S probably damaging Het
Nav2 T A 7: 49,220,959 (GRCm39) N1715K probably damaging Het
Ndc1 A G 4: 107,252,265 (GRCm39) probably benign Het
Ngly1 G T 14: 16,290,867 (GRCm38) G450* probably null Het
Or13c25 T A 4: 52,911,501 (GRCm39) M98L probably benign Het
Or5k3 T C 16: 58,969,987 (GRCm39) M258T probably benign Het
Pde3b T A 7: 114,118,791 (GRCm39) Y643* probably null Het
Pdilt T G 7: 119,086,198 (GRCm39) N506H possibly damaging Het
Pear1 C T 3: 87,659,160 (GRCm39) probably null Het
Pfkp A T 13: 6,638,625 (GRCm39) M582K probably damaging Het
Pigl T A 11: 62,403,820 (GRCm39) F251I probably benign Het
Plk3 A G 4: 116,989,004 (GRCm39) Y252H probably damaging Het
Prdx3 A G 19: 60,862,872 (GRCm39) S12P possibly damaging Het
Prkag2 T C 5: 25,082,026 (GRCm39) I96V probably benign Het
Pwwp3a T A 10: 80,068,889 (GRCm39) probably benign Het
Rgs3 G A 4: 62,544,172 (GRCm39) V146M probably damaging Het
Serpinh1 T C 7: 98,998,138 (GRCm39) D164G probably damaging Het
Slc35d2 T C 13: 64,259,324 (GRCm39) probably benign Het
Slc6a6 A G 6: 91,718,008 (GRCm39) N316D probably damaging Het
Snx14 A T 9: 88,258,958 (GRCm39) M973K possibly damaging Het
Sptan1 C G 2: 29,893,348 (GRCm39) R1126G probably damaging Het
Stpg3 T C 2: 25,103,866 (GRCm39) T157A probably benign Het
Tmem39b A T 4: 129,580,715 (GRCm39) M259K possibly damaging Het
Tomm40l A T 1: 171,049,471 (GRCm39) probably null Het
Tsen34 G T 7: 3,698,395 (GRCm39) G180W probably damaging Het
Ube2l6 C T 2: 84,636,717 (GRCm39) R54W probably damaging Het
Wdr3 T C 3: 100,058,515 (GRCm39) probably benign Het
Wsb1 T A 11: 79,139,411 (GRCm39) Q95L probably benign 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
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
R8414:Vdac1 UTSW 11 52,267,330 (GRCm39) missense possibly damaging 0.69
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'- GGCTGTGACGTGGACTTTGACATC -3'
(R):5'- GTGCCTGATTATCCTCAGTGTGACG -3'

Sequencing Primer
(F):5'- ACTTTGACATCGCTGGGC -3'
(R):5'- tctcccaccacccccac -3'
Posted On 2014-04-24