Incidental Mutation 'IGL01919:Bax'
ID180064
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bax
Ensembl Gene ENSMUSG00000003873
Gene NameBCL2-associated X protein
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.437) question?
Stock #IGL01919
Quality Score
Status
Chromosome7
Chromosomal Location45461697-45466898 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to C at 45466128 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011526] [ENSMUST00000033093] [ENSMUST00000210392] [ENSMUST00000211195] [ENSMUST00000211365]
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: 24,475,523 probably null Het
Alms1 T C 6: 85,628,004 F2212S possibly damaging Het
Anpep T C 7: 79,825,350 I155V possibly damaging Het
Aoc1 G A 6: 48,908,289 V653M probably damaging Het
Arl8b T C 6: 108,821,557 probably benign Het
Cpne7 G A 8: 123,125,643 E195K probably damaging Het
Csmd3 A G 15: 47,675,772 I2330T possibly damaging Het
Dnajc16 A G 4: 141,774,629 S297P probably benign Het
Farp2 A G 1: 93,576,433 K311E probably damaging Het
Fhad1 A G 4: 141,964,595 L410P probably damaging Het
Gm10717 C T 9: 3,025,616 S67L probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm12185 T C 11: 48,908,059 T536A possibly damaging Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Hydin C T 8: 110,519,174 T2173I possibly damaging Het
Kpnb1 A G 11: 97,164,730 V783A probably benign Het
Krt1 A G 15: 101,846,376 V509A unknown Het
Lrwd1 A T 5: 136,135,875 L26* probably null Het
Mal2 T A 15: 54,588,332 W50R probably damaging Het
Map3k21 A T 8: 125,942,132 E819V probably damaging Het
Mrgprx3-ps T C 7: 47,310,211 T11A probably benign Het
Mroh2b T C 15: 4,923,688 F635L probably benign Het
Mylip G A 13: 45,408,702 E327K probably damaging Het
Nfix T C 8: 84,726,474 D308G probably damaging Het
Olfr355 G A 2: 36,927,812 Q101* probably null Het
Olfr857 G A 9: 19,713,342 V172I probably benign Het
Psma6 A G 12: 55,407,469 E26G probably damaging Het
Rgs16 T A 1: 153,742,058 S105T probably damaging Het
Slc25a23 T A 17: 57,047,291 N372Y possibly damaging Het
Slc35e2 A G 4: 155,612,730 M234V probably benign Het
Tbc1d8 A G 1: 39,392,253 V346A probably damaging Het
Tgfb1i1 C T 7: 128,248,482 probably benign Het
Triml2 A C 8: 43,190,312 T177P probably damaging Het
Uba6 T C 5: 86,119,386 T959A probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Other mutations in Bax
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01905:Bax APN 7 45466118 missense probably damaging 1.00
R1545:Bax UTSW 7 45461933 missense probably null 0.92
R1589:Bax UTSW 7 45465247 missense possibly damaging 0.83
R5332:Bax UTSW 7 45466771 missense probably damaging 0.99
R5571:Bax UTSW 7 45461891 missense probably damaging 1.00
Posted On2014-05-07