Incidental Mutation 'R5571:Bax'
ID 435667
Institutional Source Beutler Lab
Gene Symbol Bax
Ensembl Gene ENSMUSG00000003873
Gene Name BCL2-associated X protein
Synonyms
MMRRC Submission 044395-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.822) question?
Stock # R5571 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 45111121-45116322 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45111315 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 184 (S184P)
Ref Sequence ENSEMBL: ENSMUSP00000033093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033093] [ENSMUST00000094434] [ENSMUST00000210106] [ENSMUST00000210392] [ENSMUST00000211365] [ENSMUST00000210864] [ENSMUST00000211195]
AlphaFold Q07813
PDB Structure CRYSTAL STRUCTURE OF BCL-2 IN COMPLEX WITH A BAX BH3 PEPTIDE [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000033093
AA Change: S184P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033093
Gene: ENSMUSG00000003873
AA Change: S184P

DomainStartEndE-ValueType
BCL 63 158 3.96e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000094434
SMART Domains Protein: ENSMUSP00000092002
Gene: ENSMUSG00000050708

DomainStartEndE-ValueType
Pfam:Ferritin 14 155 4.4e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000102082
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209541
Predicted Effect probably benign
Transcript: ENSMUST00000210019
Predicted Effect probably benign
Transcript: ENSMUST00000210106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210375
Predicted Effect probably damaging
Transcript: ENSMUST00000210392
AA Change: S165P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Predicted Effect probably benign
Transcript: ENSMUST00000211365
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211500
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211694
Predicted Effect probably benign
Transcript: ENSMUST00000210701
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211615
Predicted Effect probably benign
Transcript: ENSMUST00000210864
Predicted Effect probably benign
Transcript: ENSMUST00000211195
Meta Mutation Damage Score 0.2057 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 92.9%
Validation Efficiency 100% (59/59)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 A T 3: 59,784,640 (GRCm39) H371L probably damaging Het
Atad5 T C 11: 80,002,382 (GRCm39) V1058A probably benign Het
Baiap2l2 T C 15: 79,155,783 (GRCm39) H97R probably damaging Het
Bsph1 T G 7: 13,184,840 (GRCm39) M1R probably null Het
Cbln2 A G 18: 86,731,273 (GRCm39) D27G probably benign Het
Cntnap3 G A 13: 65,051,572 (GRCm39) A28V probably damaging Het
Col6a3 C A 1: 90,715,938 (GRCm39) R1641L unknown Het
Dhrs3 T G 4: 144,620,134 (GRCm39) I17S probably benign Het
Ep300 T C 15: 81,527,418 (GRCm39) probably benign Het
Epb41 T C 4: 131,664,717 (GRCm39) probably benign Het
Fat4 A T 3: 39,064,423 (GRCm39) E4793V probably damaging Het
Fbxw22 T G 9: 109,232,156 (GRCm39) K80N probably damaging Het
Fbxw24 T C 9: 109,436,066 (GRCm39) E322G probably benign Het
Fcgbpl1 A G 7: 27,855,994 (GRCm39) D1927G probably damaging Het
Fndc7 T C 3: 108,763,724 (GRCm39) I639V possibly damaging Het
Folh1 T C 7: 86,383,328 (GRCm39) Y473C probably damaging Het
Foxb2 T A 19: 16,850,131 (GRCm39) M292L probably benign Het
Gapvd1 A G 2: 34,605,265 (GRCm39) S41P probably damaging Het
Gmds A T 13: 32,101,704 (GRCm39) probably null Het
Gp6 G T 7: 4,371,899 (GRCm39) A302D probably damaging Het
Hmgcr A T 13: 96,803,171 (GRCm39) M8K probably benign Het
Itpripl2 C T 7: 118,089,092 (GRCm39) R489Q probably damaging Het
Kmo T C 1: 175,474,760 (GRCm39) V175A possibly damaging Het
Lce1i C T 3: 92,684,988 (GRCm39) G63S unknown Het
Lrp1b T C 2: 41,298,354 (GRCm39) Q155R probably damaging Het
Mdm1 T C 10: 117,995,588 (GRCm39) S541P possibly damaging Het
Neto2 C T 8: 86,367,173 (GRCm39) D524N probably damaging Het
Oga T C 19: 45,765,445 (GRCm39) T121A probably benign Het
Or1j10 A G 2: 36,267,129 (GRCm39) T114A probably benign Het
Or2ak6 T A 11: 58,592,877 (GRCm39) F117I probably damaging Het
Or5bw2 T C 7: 6,573,824 (GRCm39) I278T possibly damaging Het
Or5h17 A T 16: 58,820,569 (GRCm39) I174L probably benign Het
Ppp4r1 C T 17: 66,110,856 (GRCm39) Q21* probably null Het
Ryr2 T A 13: 11,570,334 (GRCm39) T4930S possibly damaging Het
Scart2 T A 7: 139,829,036 (GRCm39) C232S probably damaging Het
Siae G A 9: 37,528,219 (GRCm39) G64D probably benign Het
Slc14a2 T C 18: 78,252,282 (GRCm39) M10V possibly damaging Het
Ssrp1 C G 2: 84,874,669 (GRCm39) D496E probably damaging Het
Steap2 A G 5: 5,725,912 (GRCm39) S371P probably damaging Het
Taf6l G A 19: 8,761,294 (GRCm39) R24W probably damaging Het
Tbkbp1 T C 11: 97,039,555 (GRCm39) Q118R probably damaging Het
Tln2 C T 9: 67,241,602 (GRCm39) G1001E possibly damaging Het
Tm2d3 A G 7: 65,348,872 (GRCm39) N184D probably damaging Het
Tmprss2 A T 16: 97,392,071 (GRCm39) W131R probably null Het
Ube2d2a A G 18: 35,903,531 (GRCm39) probably benign Het
Unc13d A G 11: 115,954,480 (GRCm39) Y1043H probably benign Het
Usp34 T A 11: 23,407,975 (GRCm39) I2600K probably damaging Het
Vmn1r198 A G 13: 22,539,168 (GRCm39) Y218C probably damaging Het
Vmn2r8 T C 5: 108,950,106 (GRCm39) Y247C probably damaging Het
Wdr59 A T 8: 112,192,463 (GRCm39) N699K probably damaging Het
Zcchc2 T C 1: 105,951,402 (GRCm39) V579A probably benign Het
Zfhx3 A T 8: 109,682,623 (GRCm39) Q3354L unknown Het
Other mutations in Bax
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01905:Bax APN 7 45,115,542 (GRCm39) missense probably damaging 1.00
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
R7916:Bax UTSW 7 45,115,539 (GRCm39) missense probably benign
R8181:Bax UTSW 7 45,115,698 (GRCm39) missense probably null 0.34
Predicted Primers PCR Primer
(F):5'- TGAGGTTTATTGGCGCCTCC -3'
(R):5'- ATGAGCTATCTTGCTGGCCC -3'

Sequencing Primer
(F):5'- TTATTGGCGCCTCCCCAGG -3'
(R):5'- AACTTCACAGGTTGGCATTAGGC -3'
Posted On 2016-10-24