Incidental Mutation 'R1545:Bax'
ID 172110
Institutional Source Beutler Lab
Gene Symbol Bax
Ensembl Gene ENSMUSG00000003873
Gene Name BCL2-associated X protein
Synonyms
MMRRC Submission 039584-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.822) question?
Stock # R1545 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 45111121-45116322 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 45111357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 168 (H168Q)
Ref Sequence ENSEMBL: ENSMUSP00000148240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033093] [ENSMUST00000094434] [ENSMUST00000210106] [ENSMUST00000210392] [ENSMUST00000211365] [ENSMUST00000211195] [ENSMUST00000210864]
AlphaFold Q07813
Predicted Effect possibly damaging
Transcript: ENSMUST00000033093
AA Change: W170G

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000033093
Gene: ENSMUSG00000003873
AA Change: W170G

DomainStartEndE-ValueType
BCL 63 158 3.96e-36 SMART
Predicted Effect probably null
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 possibly damaging
Transcript: ENSMUST00000210392
AA Change: W151G

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect probably null
Transcript: ENSMUST00000211365
AA Change: H168Q

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000210701
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211694
Predicted Effect probably benign
Transcript: ENSMUST00000211195
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211500
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211615
Predicted Effect probably null
Transcript: ENSMUST00000210864
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.6%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas C T 15: 102,247,641 (GRCm39) R410H probably damaging Het
Abca2 T C 2: 25,332,370 (GRCm39) C1468R probably benign Het
Actl9 T A 17: 33,652,231 (GRCm39) I97N probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Asb3 T A 11: 31,006,217 (GRCm39) M234K probably benign Het
Brinp1 A G 4: 68,681,192 (GRCm39) L446P possibly damaging Het
Cdc14a A G 3: 116,087,373 (GRCm39) probably null Het
Cfap299 C A 5: 98,477,291 (GRCm39) Q27K probably benign Het
Cpq A T 15: 33,250,146 (GRCm39) I168F probably damaging Het
Crkl A T 16: 17,301,556 (GRCm39) N270I probably damaging Het
Cul7 G A 17: 46,962,479 (GRCm39) E37K probably damaging Het
Eps15 C T 4: 109,169,526 (GRCm39) T112I probably benign Het
F5 C T 1: 164,036,529 (GRCm39) R1897* probably null Het
Fbxl5 A T 5: 43,928,140 (GRCm39) L40Q probably damaging Het
Fhip1a C T 3: 85,573,261 (GRCm39) S896N probably damaging Het
Gprc5a C A 6: 135,060,459 (GRCm39) T316K probably damaging Het
Hectd4 T A 5: 121,462,019 (GRCm39) L2299Q possibly damaging Het
Khdc3 C G 9: 73,010,942 (GRCm39) P240R probably benign Het
Kif20b A G 19: 34,906,318 (GRCm39) T69A probably damaging Het
Kptn C G 7: 15,857,888 (GRCm39) Q239E probably benign Het
Lep T C 6: 29,070,831 (GRCm39) S52P probably damaging Het
Lrig3 G A 10: 125,844,416 (GRCm39) V627M possibly damaging Het
Lrrc37 T C 11: 103,499,745 (GRCm39) K615E probably benign Het
Mdga1 G A 17: 30,061,876 (GRCm39) R792C probably damaging Het
Mink1 T C 11: 70,489,717 (GRCm39) V58A possibly damaging Het
Neu1 G A 17: 35,153,374 (GRCm39) R299Q probably benign Het
Nrg3 T A 14: 38,129,111 (GRCm39) I375F probably benign Het
Nup50 A G 15: 84,823,993 (GRCm39) T449A possibly damaging Het
Nup98 A G 7: 101,784,087 (GRCm39) S1082P possibly damaging Het
Or8b1b C A 9: 38,375,815 (GRCm39) H159Q probably benign Het
Otub1 T C 19: 7,176,571 (GRCm39) I188V probably benign Het
Pcdhac2 T C 18: 37,279,186 (GRCm39) I722T possibly damaging Het
Pcsk7 T A 9: 45,825,646 (GRCm39) D292E probably damaging Het
Peli2 T A 14: 48,490,174 (GRCm39) D215E probably benign Het
Ppp1r9a T C 6: 5,156,242 (GRCm39) probably null Het
Ppp2r1b A G 9: 50,773,725 (GRCm39) K136R possibly damaging Het
Prpf3 T C 3: 95,755,115 (GRCm39) K157E probably damaging Het
Prss50 T C 9: 110,690,336 (GRCm39) S160P probably damaging Het
Ptprb T C 10: 116,216,774 (GRCm39) V2251A probably damaging Het
Rgs6 G A 12: 83,162,951 (GRCm39) E386K probably damaging Het
Rida A G 15: 34,495,250 (GRCm39) I5T probably benign Het
Rpe A G 1: 66,740,169 (GRCm39) H35R probably damaging Het
Sema4b T A 7: 79,868,771 (GRCm39) D321E probably benign Het
Slc22a13 G A 9: 119,038,113 (GRCm39) A5V probably benign Het
Snta1 C T 2: 154,218,926 (GRCm39) probably null Het
Spdye4c T A 2: 128,437,632 (GRCm39) N220K probably benign Het
Sult1c2 G T 17: 54,269,176 (GRCm39) A280E possibly damaging Het
Tfr2 A G 5: 137,581,561 (GRCm39) E579G probably benign Het
Tmem221 A G 8: 72,011,182 (GRCm39) L91P probably damaging Het
Tspear T A 10: 77,706,253 (GRCm39) L341H possibly damaging Het
Vmn1r17 A G 6: 57,338,317 (GRCm39) V16A probably benign Het
Vmn1r188 A G 13: 22,272,603 (GRCm39) R186G probably damaging Het
Wfikkn1 A G 17: 26,097,565 (GRCm39) V253A probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- GGGACCATACAATCCAAAGTGGACC -3'
(R):5'- CATGAGCTATCTTGCTGGCCCTAAG -3'

Sequencing Primer
(F):5'- TACAATCCAAAGTGGACCTGAGG -3'
(R):5'- ttttctgagtgaggatctcaataaac -3'
Posted On 2014-04-13