Incidental Mutation 'R7916:Bax'
ID 648078
Institutional Source Beutler Lab
Gene Symbol Bax
Ensembl Gene ENSMUSG00000003873
Gene Name BCL2-associated X protein
Synonyms
MMRRC Submission 045964-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.822) question?
Stock # R7916 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 45111121-45116322 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 45115539 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 32 (Q32P)
Ref Sequence ENSEMBL: ENSMUSP00000033093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011526] [ENSMUST00000033093] [ENSMUST00000210392] [ENSMUST00000211195] [ENSMUST00000211365]
AlphaFold Q07813
PDB Structure CRYSTAL STRUCTURE OF BCL-2 IN COMPLEX WITH A BAX BH3 PEPTIDE [X-RAY DIFFRACTION]
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 benign
Transcript: ENSMUST00000033093
AA Change: Q32P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033093
Gene: ENSMUSG00000003873
AA Change: Q32P

DomainStartEndE-ValueType
BCL 63 158 3.96e-36 SMART
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000210392
AA Change: Q13P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000211195
Predicted Effect probably benign
Transcript: ENSMUST00000211365
AA Change: Q32P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T A 16: 4,682,454 (GRCm39) L195* probably null Het
Ahnak T G 19: 8,983,196 (GRCm39) D1493E possibly damaging Het
Alox12e C A 11: 70,212,111 (GRCm39) R162L probably benign Het
Cand1 A G 10: 119,052,493 (GRCm39) M204T probably benign Het
Chd9 T A 8: 91,761,684 (GRCm39) Y2256* probably null Het
Chuk A G 19: 44,085,420 (GRCm39) I242T probably damaging Het
Cic T C 7: 24,987,715 (GRCm39) S1468P probably damaging Het
Col27a1 A G 4: 63,142,789 (GRCm39) H159R probably damaging Het
Cux1 T C 5: 136,311,815 (GRCm39) K1174E probably damaging Het
Dnah2 C A 11: 69,311,974 (GRCm39) probably null Het
Dpp3 C A 19: 4,967,052 (GRCm39) E351* probably null Het
Dyrk1a A G 16: 94,474,200 (GRCm39) Y319C probably damaging Het
E130308A19Rik T C 4: 59,719,841 (GRCm39) S458P probably damaging Het
Ehmt1 G A 2: 24,746,708 (GRCm39) L425F probably damaging Het
Emp2 C A 16: 10,102,437 (GRCm39) R125L possibly damaging Het
Farsb A G 1: 78,435,200 (GRCm39) probably null Het
Frk A T 10: 34,360,021 (GRCm39) R7S possibly damaging Het
Glb1l2 T C 9: 26,678,720 (GRCm39) T483A probably benign Het
Gm5773 T C 3: 93,680,586 (GRCm39) V86A possibly damaging Het
Gm7324 T G 14: 43,952,003 (GRCm39) D215E probably benign Het
Gng13 A T 17: 25,937,932 (GRCm39) K44* probably null Het
Gprin1 C T 13: 54,887,263 (GRCm39) G337D possibly damaging Het
Ighv1-84 G T 12: 115,944,609 (GRCm39) Q22K probably benign Het
Il20rb T C 9: 100,348,304 (GRCm39) H210R probably benign Het
Iqcm C T 8: 76,304,578 (GRCm39) S113L probably benign Het
Kat6b AGAGGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGA 14: 21,712,417 (GRCm39) probably benign Het
Kmo G T 1: 175,487,236 (GRCm39) G430W probably damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Ldhd T G 8: 112,356,023 (GRCm39) D120A possibly damaging Het
Lyst T C 13: 13,821,657 (GRCm39) S1344P possibly damaging Het
Mb T A 15: 76,900,257 (GRCm39) I112F probably damaging Het
Mbd5 G A 2: 49,147,118 (GRCm39) V443M probably damaging Het
Milr1 A G 11: 106,654,688 (GRCm39) K180R possibly damaging Het
Mst1r T C 9: 107,784,777 (GRCm39) F145S probably damaging Het
Mthfd2 A T 6: 83,286,455 (GRCm39) I251K possibly damaging Het
Nfx1 T A 4: 40,977,142 (GRCm39) M272K probably benign Het
Nlrp3 A G 11: 59,442,689 (GRCm39) D747G probably benign Het
Odr4 C T 1: 150,260,249 (GRCm39) R123K probably benign Het
Or2y1 A T 11: 49,385,543 (GRCm39) Y61F probably benign Het
Or5p60 C A 7: 107,724,329 (GRCm39) S47I possibly damaging Het
Or8k18 A T 2: 86,085,202 (GRCm39) Y278* probably null Het
Pcdha11 A G 18: 37,140,441 (GRCm39) E690G probably benign Het
Pcdhga4 T A 18: 37,818,502 (GRCm39) I17N probably benign Het
Peg10 T TCCG 6: 4,756,451 (GRCm39) probably benign Het
Phf20 A G 2: 156,129,858 (GRCm39) K477E probably damaging Het
Pik3c2b T A 1: 133,028,642 (GRCm39) I1377N probably benign Het
Polr3h T C 15: 81,806,613 (GRCm39) K69E probably benign Het
Rpgrip1 A G 14: 52,368,641 (GRCm39) H280R possibly damaging Het
Rpp40 C A 13: 36,086,034 (GRCm39) R132L probably benign Het
Ryr1 G A 7: 28,790,364 (GRCm39) Q1488* probably null Het
Sh3bp1 A G 15: 78,791,421 (GRCm39) M403V probably benign Het
Slc20a1 G A 2: 129,049,757 (GRCm39) D340N probably benign Het
Snrnp200 T A 2: 127,074,979 (GRCm39) N1517K possibly damaging Het
Srek1ip1 T A 13: 104,973,981 (GRCm39) H129Q possibly damaging Het
Thumpd2 A T 17: 81,334,116 (GRCm39) C491S probably benign Het
Tle3 A T 9: 61,314,410 (GRCm39) N204I probably benign Het
Tmem131 A G 1: 36,862,167 (GRCm39) V677A probably benign Het
Topaz1 T G 9: 122,576,499 (GRCm39) L30R probably benign Het
Trim35 T A 14: 66,546,309 (GRCm39) C359S probably damaging Het
Ttn A C 2: 76,774,865 (GRCm39) V2105G unknown Het
Ube2o A G 11: 116,471,884 (GRCm39) V119A probably benign Het
Ubr2 A T 17: 47,279,308 (GRCm39) probably null Het
Uhmk1 A G 1: 170,032,757 (GRCm39) V347A possibly damaging Het
Utp4 C T 8: 107,649,497 (GRCm39) P649S probably damaging Het
Vmn2r28 G A 7: 5,483,818 (GRCm39) T794I probably damaging Het
Vmn2r61 T G 7: 41,949,935 (GRCm39) F785C probably damaging Het
Xpot C A 10: 121,458,848 (GRCm39) probably benign Het
Zfp729a C T 13: 67,768,294 (GRCm39) R645H probably benign 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
R5571:Bax UTSW 7 45,111,315 (GRCm39) missense probably damaging 1.00
R8181:Bax UTSW 7 45,115,698 (GRCm39) missense probably null 0.34
Predicted Primers PCR Primer
(F):5'- GAACAACAGTGCCCAGTTCG -3'
(R):5'- GGTTATGAGCCTACCTATCCATCCC -3'

Sequencing Primer
(F):5'- TTCGGCAGGAGACCCCTTG -3'
(R):5'- GAGTCCAGGCACCCCTTTC -3'
Posted On 2020-09-15