Incidental Mutation 'IGL01919:Bax'
ID 180064
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: 0.849) question?
Stock # IGL01919
Quality Score
Status
Chromosome 7
Chromosomal Location 45111121-45116322 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to C at 45115552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011526] [ENSMUST00000033093] [ENSMUST00000210392] [ENSMUST00000211195] [ENSMUST00000211365]
AlphaFold Q07813
Predicted Effect probably null
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 null
Transcript: ENSMUST00000033093
SMART Domains Protein: ENSMUSP00000033093
Gene: ENSMUSG00000003873

DomainStartEndE-ValueType
BCL 63 158 3.96e-36 SMART
Predicted Effect probably null
Transcript: ENSMUST00000210019
Predicted Effect probably null
Transcript: ENSMUST00000210392
Predicted Effect probably null
Transcript: ENSMUST00000210701
Predicted Effect probably benign
Transcript: ENSMUST00000211195
Predicted Effect probably null
Transcript: ENSMUST00000211365
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A G 18: 24,608,580 (GRCm39) probably null Het
Alms1 T C 6: 85,604,986 (GRCm39) F2212S possibly damaging Het
Anpep T C 7: 79,475,098 (GRCm39) I155V possibly damaging Het
Aoc1 G A 6: 48,885,223 (GRCm39) V653M probably damaging Het
Arl8b T C 6: 108,798,518 (GRCm39) probably benign Het
Cpne7 G A 8: 123,852,382 (GRCm39) E195K probably damaging Het
Csmd3 A G 15: 47,539,168 (GRCm39) I2330T possibly damaging Het
Dnajc16 A G 4: 141,501,940 (GRCm39) S297P probably benign Het
Farp2 A G 1: 93,504,155 (GRCm39) K311E probably damaging Het
Fhad1 A G 4: 141,691,906 (GRCm39) L410P probably damaging Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm12185 T C 11: 48,798,886 (GRCm39) T536A possibly damaging Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Hydin C T 8: 111,245,806 (GRCm39) T2173I possibly damaging Het
Kpnb1 A G 11: 97,055,556 (GRCm39) V783A probably benign Het
Krt1 A G 15: 101,754,811 (GRCm39) V509A unknown Het
Lrwd1 A T 5: 136,164,729 (GRCm39) L26* probably null Het
Mal2 T A 15: 54,451,728 (GRCm39) W50R probably damaging Het
Map3k21 A T 8: 126,668,871 (GRCm39) E819V probably damaging Het
Mrgprx3-ps T C 7: 46,959,959 (GRCm39) T11A probably benign Het
Mroh2b T C 15: 4,953,170 (GRCm39) F635L probably benign Het
Mylip G A 13: 45,562,178 (GRCm39) E327K probably damaging Het
Nfix T C 8: 85,453,103 (GRCm39) D308G probably damaging Het
Or1l8 G A 2: 36,817,824 (GRCm39) Q101* probably null Het
Or7e166 G A 9: 19,624,638 (GRCm39) V172I probably benign Het
Psma6 A G 12: 55,454,254 (GRCm39) E26G probably damaging Het
Rgs16 T A 1: 153,617,804 (GRCm39) S105T probably damaging Het
Slc25a23 T A 17: 57,354,291 (GRCm39) N372Y possibly damaging Het
Slc35e2 A G 4: 155,697,187 (GRCm39) M234V probably benign Het
Tbc1d8 A G 1: 39,431,334 (GRCm39) V346A probably damaging Het
Tgfb1i1 C T 7: 127,847,654 (GRCm39) probably benign Het
Triml2 A C 8: 43,643,349 (GRCm39) T177P probably damaging Het
Uba6 T C 5: 86,267,245 (GRCm39) T959A probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Other mutations in Bax
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01905:Bax APN 7 45,115,542 (GRCm39) missense probably damaging 1.00
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