Incidental Mutation 'IGL01905:Bax'
ID 179645
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bax
Ensembl Gene ENSMUSG00000003873
Gene Name BCL2-associated X protein
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.822) question?
Stock # IGL01905
Quality Score
Status
Chromosome 7
Chromosomal Location 45111121-45116322 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45115542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 31 (I31N)
Ref Sequence ENSEMBL: ENSMUSP00000148240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011526] [ENSMUST00000033093] [ENSMUST00000210392] [ENSMUST00000211195] [ENSMUST00000211365]
AlphaFold Q07813
Predicted Effect probably benign
Transcript: ENSMUST00000011526
SMART Domains Protein: ENSMUSP00000011526
Gene: ENSMUSG00000011382

DomainStartEndE-ValueType
Pfam:GFO_IDH_MocA 3 124 2e-25 PFAM
low complexity region 307 320 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000033093
AA Change: I31N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000033093
Gene: ENSMUSG00000003873
AA Change: I31N

DomainStartEndE-ValueType
BCL 63 158 3.96e-36 SMART
Predicted Effect unknown
Transcript: ENSMUST00000210019
AA Change: I43N
Predicted Effect possibly damaging
Transcript: ENSMUST00000210392
AA Change: I12N

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect unknown
Transcript: ENSMUST00000210701
AA Change: I218N
Predicted Effect probably benign
Transcript: ENSMUST00000211195
Predicted Effect probably damaging
Transcript: ENSMUST00000211365
AA Change: I31N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211615
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 hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activator. This protein is reported to interact with, and increase the opening of, the mitochondrial voltage-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this gene is regulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Multiple alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants display hyperplasia of thymocytes and B cells, reproductive failure with abnormal germ cells and gonadal morphology, and reduced cell death in the CNS and PNS. Female mutants exhibit a prolonged ovarian lifespan. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik A T 10: 78,903,582 (GRCm39) C245S probably damaging Het
Apol10b A G 15: 77,469,559 (GRCm39) I206T possibly damaging Het
Ccdc116 C A 16: 16,960,425 (GRCm39) V131L probably damaging Het
Ces2b C A 8: 105,560,594 (GRCm39) N136K probably damaging Het
Csnk1d A T 11: 120,864,789 (GRCm39) I65N probably damaging Het
Fam167b A G 4: 129,470,892 (GRCm39) M152T probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gm5862 A C 5: 26,227,769 (GRCm39) W41G probably benign Het
Heatr6 C T 11: 83,672,538 (GRCm39) S1182L probably benign Het
Lpcat4 T C 2: 112,073,388 (GRCm39) probably null Het
Myh8 T C 11: 67,175,477 (GRCm39) Y311H possibly damaging Het
Naaladl1 G A 19: 6,165,577 (GRCm39) D744N possibly damaging Het
Pik3r4 C A 9: 105,522,077 (GRCm39) Y214* probably null Het
Proca1 A G 11: 78,095,716 (GRCm39) H29R probably damaging Het
Prrc2c T C 1: 162,532,898 (GRCm39) probably benign Het
Rcor3 G A 1: 191,785,302 (GRCm39) P489S probably damaging Het
Rela A T 19: 5,695,592 (GRCm39) N337I probably benign Het
Rnf123 C T 9: 107,948,569 (GRCm39) probably benign Het
Septin9 T A 11: 117,109,715 (GRCm39) S12T probably benign Het
Serpina1c A T 12: 103,863,318 (GRCm39) L294Q possibly damaging Het
Slc12a5 A G 2: 164,832,301 (GRCm39) D740G probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zfp473 T C 7: 44,383,151 (GRCm39) K394R probably benign Het
Zkscan7 C T 9: 122,719,826 (GRCm39) P171S possibly damaging Het
Zmynd19 T A 2: 24,841,541 (GRCm39) F36L probably benign Het
Other mutations in Bax
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01919:Bax APN 7 45,115,552 (GRCm39) splice site probably null
R1545:Bax UTSW 7 45,111,357 (GRCm39) missense probably null 0.92
R1589:Bax UTSW 7 45,114,671 (GRCm39) missense possibly damaging 0.83
R5332:Bax UTSW 7 45,116,195 (GRCm39) missense probably damaging 0.99
R5571:Bax UTSW 7 45,111,315 (GRCm39) missense probably damaging 1.00
R7916:Bax UTSW 7 45,115,539 (GRCm39) missense probably benign
R8181:Bax UTSW 7 45,115,698 (GRCm39) missense probably null 0.34
Posted On 2014-05-07