Incidental Mutation 'IGL02734:Bak1'
ID305586
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bak1
Ensembl Gene ENSMUSG00000057789
Gene NameBCL2-antagonist/killer 1
SynonymsN-Bak, Bak
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02734
Quality Score
Status
Chromosome17
Chromosomal Location27019810-27029009 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 27020953 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 203 (V203A)
Ref Sequence ENSEMBL: ENSMUSP00000077757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025034] [ENSMUST00000078691] [ENSMUST00000122106] [ENSMUST00000133257]
PDB Structure
STRUCTURE OF MOUSE A1 BOUND TO THE BAK BH3-DOMAIN [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000025034
SMART Domains Protein: ENSMUSP00000025034
Gene: ENSMUSG00000057789

DomainStartEndE-ValueType
SCOP:d1f16a_ 15 114 2e-18 SMART
PDB:2M5B|A 18 126 1e-50 PDB
Blast:BCL 33 66 2e-10 BLAST
Blast:BCL 76 126 2e-20 BLAST
low complexity region 127 140 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000078691
AA Change: V203A

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000077757
Gene: ENSMUSG00000057789
AA Change: V203A

DomainStartEndE-ValueType
BCL 76 175 2.2e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122106
SMART Domains Protein: ENSMUSP00000113880
Gene: ENSMUSG00000048731

DomainStartEndE-ValueType
low complexity region 3 14 N/A INTRINSIC
Pfam:Ubiquitin_3 172 260 2.4e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133257
SMART Domains Protein: ENSMUSP00000115777
Gene: ENSMUSG00000048731

DomainStartEndE-ValueType
low complexity region 144 157 N/A INTRINSIC
internal_repeat_1 264 280 1.14e-6 PROSPERO
Pfam:Ubiquitin_3 281 368 1.5e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133448
SMART Domains Protein: ENSMUSP00000122800
Gene: ENSMUSG00000057789

DomainStartEndE-ValueType
low complexity region 38 51 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142141
Predicted Effect probably benign
Transcript: ENSMUST00000143158
SMART Domains Protein: ENSMUSP00000122521
Gene: ENSMUSG00000057789

DomainStartEndE-ValueType
PDB:2YV6|A 2 64 2e-29 PDB
SCOP:d1k3ka_ 6 75 4e-14 SMART
Blast:BCL 25 64 6e-21 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151920
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form oligomers or heterodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein localizes to mitochondria, and functions to induce apoptosis. It interacts with and accelerates the opening of the mitochondrial voltage-dependent anion channel, which leads to a loss in membrane potential and the release of cytochrome c. This protein also interacts with the tumor suppressor P53 after exposure to cell stress. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene does not result in a phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A G 8: 43,569,775 V226A probably benign Het
Anapc4 T A 5: 52,861,291 V525E probably benign Het
Apip C T 2: 103,089,544 probably benign Het
Bche T A 3: 73,702,076 T6S probably benign Het
Ceacam5 T A 7: 17,750,812 V493D probably damaging Het
Cstf3 T A 2: 104,609,194 probably benign Het
Fam227a A T 15: 79,617,841 probably benign Het
Fbln1 G T 15: 85,226,981 C112F probably damaging Het
Gm12695 G A 4: 96,724,030 R499* probably null Het
Gm438 T A 4: 144,779,779 D114V probably damaging Het
Igdcc4 T G 9: 65,131,456 S887A possibly damaging Het
Itgb4 G T 11: 116,005,966 R1470L probably benign Het
Kif1a T C 1: 93,062,558 E480G probably damaging Het
Mgam T A 6: 40,662,694 F497L probably damaging Het
Olfr1019 T G 2: 85,841,539 D84A possibly damaging Het
Olfr1093 T C 2: 86,786,368 Y213H probably benign Het
Olfr1247 T C 2: 89,609,959 I48V probably benign Het
Prl7a2 A T 13: 27,659,207 D204E probably benign Het
Shd A G 17: 55,971,632 Y65C probably damaging Het
Slc25a39 A G 11: 102,404,523 V207A probably benign Het
Sptlc2 T C 12: 87,355,670 T161A probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tacc2 G T 7: 130,626,099 V1505L probably damaging Het
Taf6 T C 5: 138,183,856 K76E possibly damaging Het
Trak2 G A 1: 58,910,063 T526M probably benign Het
Zc3h4 T C 7: 16,423,924 I353T unknown Het
Other mutations in Bak1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1056:Bak1 UTSW 17 27021273 missense possibly damaging 0.83
R1806:Bak1 UTSW 17 27021268 nonsense probably null
R4135:Bak1 UTSW 17 27021270 missense possibly damaging 0.66
R4422:Bak1 UTSW 17 27021324 missense probably damaging 1.00
R4664:Bak1 UTSW 17 27022536 missense possibly damaging 0.81
R5182:Bak1 UTSW 17 27022748 missense possibly damaging 0.86
R5185:Bak1 UTSW 17 27022748 missense possibly damaging 0.86
R6469:Bak1 UTSW 17 27021319 missense probably damaging 1.00
R7155:Bak1 UTSW 17 27022460 missense possibly damaging 0.82
R7999:Bak1 UTSW 17 27021306 missense probably damaging 1.00
R8086:Bak1 UTSW 17 27020937 missense probably benign 0.21
X0066:Bak1 UTSW 17 27022569 missense probably damaging 1.00
Posted On2015-04-16