Incidental Mutation 'IGL01368:Bcl2a1a'
ID 76007
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcl2a1a
Ensembl Gene ENSMUSG00000102037
Gene Name B cell leukemia/lymphoma 2 related protein A1a
Synonyms Hbpa1, Bfl-1, A1, Bcl2a1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # IGL01368
Quality Score
Status
Chromosome 9
Chromosomal Location 88838973-88844469 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88839500 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 133 (W133R)
Ref Sequence ENSEMBL: ENSMUSP00000096086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098485]
AlphaFold Q07440
PDB Structure STRUCTURE OF MOUSE A1 BOUND TO THE PUMA BH3-DOMAIN [X-RAY DIFFRACTION]
STRUCTURE OF MOUSE A1 BOUND TO THE BMF BH3-DOMAIN [X-RAY DIFFRACTION]
STRUCTURE OF MOUSE A1 BOUND TO THE BAK BH3-DOMAIN [X-RAY DIFFRACTION]
STRUCTURE OF MOUSE A1 BOUND TO THE BID BH3-DOMAIN [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000098485
AA Change: W133R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096086
Gene: ENSMUSG00000102037
AA Change: W133R

DomainStartEndE-ValueType
BCL 37 140 2.45e-41 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mutants show enhanced spontaneous apoptosis of neutrophils, while both heterozygous and homozygous null mutants lack LPS-induced neutrophil apoptosis inhibition. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 T A 14: 103,288,770 (GRCm39) D93E probably damaging Het
Adam22 T C 5: 8,177,411 (GRCm39) Y566C probably damaging Het
Atp8b3 G A 10: 80,370,063 (GRCm39) probably benign Het
Babam1 T A 8: 71,851,050 (GRCm39) D104E probably damaging Het
Ckm C T 7: 19,150,712 (GRCm39) Q184* probably null Het
Clk4 T A 11: 51,171,999 (GRCm39) Y246* probably null Het
Cyp3a57 T C 5: 145,305,878 (GRCm39) S121P probably damaging Het
Eif1ad15 C T 12: 88,287,858 (GRCm39) D132N unknown Het
Gm8011 T C 14: 42,287,831 (GRCm39) probably benign Het
Gpr153 T C 4: 152,367,451 (GRCm39) F434S probably benign Het
Gpr158 G T 2: 21,831,909 (GRCm39) W1003L probably damaging Het
Ighv5-9-1 T C 12: 113,700,010 (GRCm39) E34G probably damaging Het
Igkv16-104 G T 6: 68,402,594 (GRCm39) R2S possibly damaging Het
Map3k3 T C 11: 106,041,215 (GRCm39) F395L probably benign Het
Myof T A 19: 37,924,905 (GRCm39) T1161S probably damaging Het
Nlrp9a T C 7: 26,257,299 (GRCm39) S217P probably damaging Het
Nol9 T A 4: 152,142,848 (GRCm39) N687K probably benign Het
Or10ad1 T C 15: 98,105,381 (GRCm39) I295V probably damaging Het
Or11h23 T C 14: 50,948,450 (GRCm39) V221A possibly damaging Het
Or2ag15 T C 7: 106,340,829 (GRCm39) E104G probably benign Het
Or8g33 A T 9: 39,337,476 (GRCm39) V297D probably damaging Het
Prss1l A G 6: 41,373,620 (GRCm39) D161G possibly damaging Het
Rrh T C 3: 129,602,618 (GRCm39) D229G probably benign Het
Sclt1 T C 3: 41,665,610 (GRCm39) T153A probably damaging Het
Slc41a1 G A 1: 131,766,862 (GRCm39) V127I probably damaging Het
Smarca2 C T 19: 26,751,694 (GRCm39) S214L possibly damaging Het
Tmem63a T C 1: 180,797,797 (GRCm39) V616A possibly damaging Het
Ubr1 A G 2: 120,771,612 (GRCm39) probably benign Het
Vmn1r228 A G 17: 20,996,774 (GRCm39) L248P probably benign Het
Zdhhc16 T A 19: 41,929,945 (GRCm39) probably null Het
Other mutations in Bcl2a1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02942:Bcl2a1a APN 9 88,839,095 (GRCm39) utr 5 prime probably benign
R0064:Bcl2a1a UTSW 9 88,839,516 (GRCm39) missense probably damaging 1.00
R1672:Bcl2a1a UTSW 9 88,839,503 (GRCm39) missense probably damaging 1.00
R2511:Bcl2a1a UTSW 9 88,839,506 (GRCm39) missense probably damaging 1.00
R4616:Bcl2a1a UTSW 9 88,839,506 (GRCm39) missense probably damaging 1.00
R4618:Bcl2a1a UTSW 9 88,839,357 (GRCm39) missense probably damaging 1.00
R4947:Bcl2a1a UTSW 9 88,839,335 (GRCm39) missense probably damaging 1.00
R7584:Bcl2a1a UTSW 9 88,839,345 (GRCm39) missense probably damaging 1.00
R8867:Bcl2a1a UTSW 9 88,839,503 (GRCm39) missense probably damaging 1.00
R8900:Bcl2a1a UTSW 9 88,839,311 (GRCm39) missense probably benign 0.17
R9685:Bcl2a1a UTSW 9 88,839,185 (GRCm39) missense probably benign 0.00
Z1177:Bcl2a1a UTSW 9 88,839,519 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07