Incidental Mutation 'IGL02426:Bad'
ID292917
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bad
Ensembl Gene ENSMUSG00000024959
Gene NameBCL2-associated agonist of cell death
SynonymsBbc2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.169) question?
Stock #IGL02426
Quality Score
Status
Chromosome19
Chromosomal Location6941861-6951898 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 6951417 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 128 (S128G)
Ref Sequence ENSEMBL: ENSMUSP00000109050 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025910] [ENSMUST00000025912] [ENSMUST00000113423] [ENSMUST00000113426]
Predicted Effect probably damaging
Transcript: ENSMUST00000025910
AA Change: S170G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025910
Gene: ENSMUSG00000024959
AA Change: S170G

DomainStartEndE-ValueType
Pfam:Bcl-2_BAD 43 204 5e-93 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000025912
SMART Domains Protein: ENSMUSP00000025912
Gene: ENSMUSG00000024960

DomainStartEndE-ValueType
Pfam:EF-hand_like 225 316 6.6e-23 PFAM
PLCXc 317 468 4.26e-73 SMART
low complexity region 488 515 N/A INTRINSIC
low complexity region 553 578 N/A INTRINSIC
PLCYc 591 707 3.88e-76 SMART
C2 728 826 4.52e-14 SMART
low complexity region 917 936 N/A INTRINSIC
Pfam:PLC-beta_C 1029 1202 5.5e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113423
AA Change: S128G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109050
Gene: ENSMUSG00000024959
AA Change: S128G

DomainStartEndE-ValueType
Pfam:Bcl-2_BAD 1 162 9.1e-92 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113426
SMART Domains Protein: ENSMUSP00000109053
Gene: ENSMUSG00000024959

DomainStartEndE-ValueType
Pfam:Bcl-2_BAD 43 172 5.7e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141410
SMART Domains Protein: ENSMUSP00000114597
Gene: ENSMUSG00000024959

DomainStartEndE-ValueType
Pfam:Bcl-2_BAD 1 134 2.9e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145463
SMART Domains Protein: ENSMUSP00000121778
Gene: ENSMUSG00000024959

DomainStartEndE-ValueType
Pfam:Bcl-2_BAD 1 51 1.4e-11 PFAM
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 is a member of the BCL-2 family. BCL-2 family members are known to be regulators of programmed cell death. This protein positively regulates cell apoptosis by forming heterodimers with BCL-xL and BCL-2, and reversing their death repressor activity. Proapoptotic activity of this protein is regulated through its phosphorylation. Protein kinases AKT and MAP kinase, as well as protein phosphatase calcineurin were found to be involved in the regulation of this protein. Alternative splicing of this gene results in two transcript variants which encode the same isoform. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene are grossly normal and fertile. Both T and B cells show increased sensitivity to gamma irradiation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G A 16: 20,338,925 T1294M probably damaging Het
Casp9 T G 4: 141,812,204 probably null Het
Ccdc39 T C 3: 33,825,398 K507R possibly damaging Het
Cep76 A G 18: 67,634,917 S182P probably benign Het
Cmtr2 A G 8: 110,221,690 M211V possibly damaging Het
Cobl T A 11: 12,254,351 K777* probably null Het
Cul9 T G 17: 46,523,258 T1253P possibly damaging Het
Dmd T A X: 84,848,736 L3002H probably damaging Het
Dnah9 C T 11: 66,125,153 V421I probably benign Het
Eif4a2 A G 16: 23,110,649 I234V probably benign Het
Epha4 T C 1: 77,444,877 M323V probably benign Het
Fam47c A G X: 78,738,337 D175G probably benign Het
Gm13101 T C 4: 143,966,659 D83G possibly damaging Het
Gm14178 T C 11: 99,747,515 Het
Gpr1 T C 1: 63,183,668 Y136C probably damaging Het
Hes3 T C 4: 152,286,940 N184S probably benign Het
Kdm6a A G X: 18,246,310 E45G probably damaging Het
Kdr T C 5: 75,974,466 K33E probably benign Het
Olfr1097 A G 2: 86,890,620 L185S probably damaging Het
Olfr1281 A T 2: 111,328,575 D52V probably damaging Het
Olfr1295 A T 2: 111,564,538 I302K probably benign Het
Olfr437 A C 6: 43,167,088 D10A probably benign Het
Olfr503 A G 7: 108,544,980 T150A probably benign Het
Pi4ka A T 16: 17,378,432 probably benign Het
Pigk T A 3: 152,742,483 probably null Het
Pikfyve A G 1: 65,251,612 T1197A possibly damaging Het
Plppr4 T C 3: 117,322,295 I638V probably benign Het
Rtl9 T C X: 143,103,102 V1170A probably damaging Het
Ryr3 A G 2: 112,900,905 S687P possibly damaging Het
Skint5 T C 4: 113,940,784 T201A probably benign Het
Socs5 G T 17: 87,134,892 R420L probably damaging Het
Sos1 C T 17: 80,434,943 S385N possibly damaging Het
Tomm34 A T 2: 164,064,955 V106D probably damaging Het
Tubal3 T C 13: 3,932,750 S177P probably damaging Het
Wbp2nl G A 15: 82,306,173 A101T probably damaging Het
Other mutations in Bad
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3437:Bad UTSW 19 6942431 missense probably benign 0.16
R4419:Bad UTSW 19 6950685 missense probably benign 0.14
R6662:Bad UTSW 19 6951070 intron probably benign
R6886:Bad UTSW 19 6951334 unclassified probably benign
Posted On2015-04-16