Incidental Mutation 'IGL02942:Bcl2a1a'
ID 364569
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 A1, Hbpa1, Bcl2a1, Bfl-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.111) question?
Stock # IGL02942
Quality Score
Status
Chromosome 9
Chromosomal Location 88956900-88962419 bp(+) (GRCm38)
Type of Mutation utr 5 prime
DNA Base Change (assembly) C to T at 88957042 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
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 benign
Transcript: ENSMUST00000098485
SMART Domains Protein: ENSMUSP00000096086
Gene: ENSMUSG00000102037

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A C 15: 91,149,175 D679E probably damaging Het
Adh6a A T 3: 138,324,881 D88V probably damaging Het
Ank3 G A 10: 69,973,877 V1123I probably damaging Het
Apba1 T C 19: 23,944,971 V801A possibly damaging Het
Brd8 A G 18: 34,610,627 V215A possibly damaging Het
Cdk17 G A 10: 93,238,968 V454I probably benign Het
Chd5 G A 4: 152,385,725 G1876D probably damaging Het
Clec4g T C 8: 3,718,356 E125G probably damaging Het
Col24a1 G A 3: 145,541,665 G1602D probably damaging Het
Depdc7 A C 2: 104,728,094 L194R probably damaging Het
Dgke T G 11: 89,055,369 N202H probably benign Het
Dkk2 T A 3: 132,178,037 C233S probably damaging Het
Dmpk A C 7: 19,092,241 D542A probably damaging Het
Epb41l4a G A 18: 33,874,201 R246W probably damaging Het
Frmpd1 A T 4: 45,285,493 Q1438L probably damaging Het
Gcgr A G 11: 120,536,817 probably null Het
Gm10295 T C 7: 71,350,502 K110R unknown Het
Ifrd1 A G 12: 40,217,376 probably null Het
Inpp5f A G 7: 128,694,900 T365A probably benign Het
Kcnn3 A G 3: 89,652,076 K551R probably benign Het
Lama2 A T 10: 27,041,220 N2236K probably damaging Het
Larp7 A T 3: 127,544,195 I405N possibly damaging Het
Meltf C A 16: 31,890,778 Y432* probably null Het
Mst1r C A 9: 107,913,153 T655K possibly damaging Het
Myh1 C T 11: 67,202,482 P133L probably damaging Het
Nrn1 C A 13: 36,730,106 probably null Het
Olfr1454 A T 19: 13,064,188 Q259L probably benign Het
Olfr2 A G 7: 107,001,354 S169P possibly damaging Het
Olfr584 A T 7: 103,086,198 M222L probably benign Het
Pfkl A T 10: 78,000,133 probably null Het
Plekhb2 T C 1: 34,876,992 M204T probably damaging Het
Ptp4a2 G A 4: 129,845,193 probably null Het
Rtp4 A G 16: 23,612,954 T79A probably benign Het
Senp3 T C 11: 69,677,989 D410G probably benign Het
Slc16a5 T C 11: 115,469,350 F120L possibly damaging Het
Snrpe T C 1: 133,608,931 E37G probably damaging Het
Sorcs1 T C 19: 50,475,437 T192A probably damaging Het
Spef2 T A 15: 9,668,874 H742L possibly damaging Het
Syt12 T C 19: 4,447,830 S375G probably benign Het
Tas2r117 T C 6: 132,803,694 L265P probably benign Het
Tcp10a T A 17: 7,329,919 D158E probably damaging Het
Tesk2 A T 4: 116,771,820 H122L probably damaging Het
Unc93b1 T A 19: 3,948,686 M535K probably damaging Het
Vangl1 C A 3: 102,184,031 R246S probably damaging Het
Xpo5 C T 17: 46,208,133 T166I probably damaging Het
Zcchc6 T G 13: 59,811,521 N378H probably damaging Het
Zmiz2 T C 11: 6,399,500 probably benign Het
Other mutations in Bcl2a1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01368:Bcl2a1a APN 9 88957447 missense probably damaging 1.00
R0064:Bcl2a1a UTSW 9 88957463 missense probably damaging 1.00
R1672:Bcl2a1a UTSW 9 88957450 missense probably damaging 1.00
R2511:Bcl2a1a UTSW 9 88957453 missense probably damaging 1.00
R4616:Bcl2a1a UTSW 9 88957453 missense probably damaging 1.00
R4618:Bcl2a1a UTSW 9 88957304 missense probably damaging 1.00
R4947:Bcl2a1a UTSW 9 88957282 missense probably damaging 1.00
R7584:Bcl2a1a UTSW 9 88957292 missense probably damaging 1.00
R8867:Bcl2a1a UTSW 9 88957450 missense probably damaging 1.00
R8900:Bcl2a1a UTSW 9 88957258 missense probably benign 0.17
R9685:Bcl2a1a UTSW 9 88957132 missense probably benign 0.00
Z1177:Bcl2a1a UTSW 9 88957466 missense probably damaging 1.00
Posted On 2015-12-18