Incidental Mutation 'R2511:Bcl2a1a'
ID 252962
Institutional Source Beutler Lab
Gene Symbol Bcl2a1a
Ensembl Gene ENSMUSG00000102037
Gene Name B cell leukemia/lymphoma 2 related protein A1a
Synonyms A1, Hbpa1, Bcl2a1, Bfl-1
MMRRC Submission 040417-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R2511 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 88956900-88962419 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 88957453 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 135 (R135W)
Ref Sequence ENSEMBL: ENSMUSP00000096086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098485]
AlphaFold Q07440
Predicted Effect probably damaging
Transcript: ENSMUST00000098485
AA Change: R135W

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096086
Gene: ENSMUSG00000102037
AA Change: R135W

BCL 37 140 2.45e-41 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.7%
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,221,906 (GRCm38) C100S probably damaging Het
Abcc8 C T 7: 46,150,780 (GRCm38) R526H probably damaging Het
Acad10 G A 5: 121,631,567 (GRCm38) P609S probably benign Het
Acod1 A T 14: 103,051,339 (GRCm38) D95V probably damaging Het
Acsm5 A T 7: 119,530,454 (GRCm38) I130F possibly damaging Het
Ago4 A T 4: 126,517,071 (GRCm38) D208E probably damaging Het
Agrn A T 4: 156,166,424 (GRCm38) probably null Het
Ankar A T 1: 72,658,694 (GRCm38) I791K probably damaging Het
Ano10 A G 9: 122,258,945 (GRCm38) V364A probably damaging Het
Arhgap9 T C 10: 127,328,985 (GRCm38) probably null Het
Arsi G A 18: 60,916,594 (GRCm38) C183Y probably damaging Het
Ascl2 T G 7: 142,968,216 (GRCm38) E97A probably damaging Het
Bms1 C T 6: 118,391,153 (GRCm38) probably null Het
Bysl T A 17: 47,604,335 (GRCm38) T163S probably benign Het
Card10 A G 15: 78,780,273 (GRCm38) I821T probably benign Het
Cc2d2a A T 5: 43,735,395 (GRCm38) Q1433L probably damaging Het
Cchcr1 T C 17: 35,530,513 (GRCm38) S809P probably benign Het
Ccz1 G T 5: 144,012,997 (GRCm38) T70K probably damaging Het
Cdc25c G C 18: 34,738,239 (GRCm38) L275V probably damaging Het
Cep164 A T 9: 45,775,249 (GRCm38) L729Q probably damaging Het
Clcn6 A G 4: 148,017,494 (GRCm38) probably null Het
Clcn7 T A 17: 25,155,446 (GRCm38) V507E probably damaging Het
Cracdl T C 1: 37,625,300 (GRCm38) M506V probably benign Het
Ctso A C 3: 81,932,734 (GRCm38) T24P probably damaging Het
Dis3l2 A T 1: 86,990,258 (GRCm38) N543I probably benign Het
Dnah12 A T 14: 26,769,950 (GRCm38) Y1114F possibly damaging Het
Emx1 A G 6: 85,204,051 (GRCm38) D250G probably benign Het
Epha4 G A 1: 77,511,702 (GRCm38) A47V possibly damaging Het
Fam149b A C 14: 20,378,456 (GRCm38) N341T probably damaging Het
Fsip2 A G 2: 82,951,657 (GRCm38) K62R probably damaging Het
Fsip2 T C 2: 82,986,438 (GRCm38) S4172P probably benign Het
Gbp3 A G 3: 142,570,582 (GRCm38) R480G probably benign Het
Get3 A G 8: 85,019,766 (GRCm38) V151A possibly damaging Het
Gja8 T G 3: 96,919,717 (GRCm38) T210P probably damaging Het
Gm5431 T A 11: 48,888,709 (GRCm38) N740I probably benign Het
Gm9930 T C 10: 9,534,702 (GRCm38) noncoding transcript Het
Gstt4 C T 10: 75,815,125 (GRCm38) C221Y probably benign Het
Gzmg A T 14: 56,158,375 (GRCm38) D42E probably benign Het
Hoxd12 G A 2: 74,675,471 (GRCm38) A129T possibly damaging Het
Hs2st1 G A 3: 144,569,930 (GRCm38) probably benign Het
Ifnlr1 G T 4: 135,705,248 (GRCm38) D332Y probably damaging Het
Igsf10 T C 3: 59,331,866 (GRCm38) D298G probably damaging Het
Irf1 T C 11: 53,773,791 (GRCm38) V108A probably damaging Het
Jsrp1 C G 10: 80,812,306 (GRCm38) S36T probably benign Het
Kcnq5 T A 1: 21,505,782 (GRCm38) R233* probably null Het
Kif7 T C 7: 79,702,264 (GRCm38) K917E probably damaging Het
Krt7 A C 15: 101,412,657 (GRCm38) I62L probably benign Het
Lifr A G 15: 7,166,916 (GRCm38) T194A probably benign Het
Ltbp2 T C 12: 84,804,409 (GRCm38) probably null Het
Maco1 A G 4: 134,804,388 (GRCm38) S657P probably damaging Het
Man2c1 A G 9: 57,141,388 (GRCm38) probably null Het
Met T C 6: 17,491,967 (GRCm38) S243P probably damaging Het
Mllt10 C A 2: 18,065,124 (GRCm38) D30E possibly damaging Het
Mre11a A C 9: 14,795,769 (GRCm38) probably null Het
Mroh9 A G 1: 163,038,945 (GRCm38) S710P probably benign Het
Mvk C A 5: 114,450,398 (GRCm38) Y116* probably null Het
Myh1 A G 11: 67,205,597 (GRCm38) I301V probably benign Het
Ncf1 T C 5: 134,225,698 (GRCm38) D184G probably damaging Het
Nxpe4 T C 9: 48,393,233 (GRCm38) F207L probably damaging Het
Or2ag18 G T 7: 106,805,961 (GRCm38) P167H probably damaging Het
Or2y1b T G 11: 49,318,221 (GRCm38) L225R probably damaging Het
Or4k51 T A 2: 111,754,316 (GRCm38) N22K probably benign Het
Or52b1 A T 7: 105,329,610 (GRCm38) I194N probably damaging Het
Or5b24 T A 19: 12,935,173 (GRCm38) M145K possibly damaging Het
Or5w14 T C 2: 87,711,048 (GRCm38) N286S probably damaging Het
Pcdh1 G A 18: 38,199,479 (GRCm38) T296M possibly damaging Het
Pcdh15 A G 10: 74,645,996 (GRCm38) D391G possibly damaging Het
Pcdha7 C A 18: 36,974,733 (GRCm38) D270E probably damaging Het
Pgam1 C A 19: 41,915,876 (GRCm38) S137R probably damaging Het
Pitpnm2 T C 5: 124,136,326 (GRCm38) E240G probably damaging Het
Plce1 T G 19: 38,760,054 (GRCm38) I1729S probably damaging Het
Plppr4 G T 3: 117,331,706 (GRCm38) N161K probably damaging Het
Pramel27 G A 4: 143,851,991 (GRCm38) V274I probably benign Het
Prkce T A 17: 86,625,326 (GRCm38) I578N probably damaging Het
Prss58 A C 6: 40,897,800 (GRCm38) S36A probably damaging Het
Ptprm T C 17: 66,693,778 (GRCm38) H1128R probably damaging Het
Rgs9 T C 11: 109,268,972 (GRCm38) Y178C probably benign Het
Rubcn T C 16: 32,847,254 (GRCm38) N179S probably damaging Het
Sh3bp1 C T 15: 78,911,506 (GRCm38) P612S probably damaging Het
Sh3bp5 G A 14: 31,411,629 (GRCm38) T82M probably damaging Het
Shank2 A G 7: 144,411,577 (GRCm38) Y974C probably damaging Het
Slc9c1 T C 16: 45,544,736 (GRCm38) I144T possibly damaging Het
Slf2 T C 19: 44,941,606 (GRCm38) I374T possibly damaging Het
Snx13 A G 12: 35,138,081 (GRCm38) D786G probably benign Het
Spcs3 A G 8: 54,523,354 (GRCm38) V151A possibly damaging Het
Sstr2 A T 11: 113,624,923 (GRCm38) I223F probably damaging Het
Stac3 T C 10: 127,503,918 (GRCm38) probably null Het
Tas1r2 A G 4: 139,659,851 (GRCm38) N207S probably damaging Het
Tectb C G 19: 55,180,999 (GRCm38) probably benign Het
Tgm5 T C 2: 121,076,948 (GRCm38) E98G possibly damaging Het
Tktl2 A G 8: 66,512,852 (GRCm38) E354G probably benign Het
Tmem94 G A 11: 115,791,961 (GRCm38) R608H probably damaging Het
Tnrc6a G A 7: 123,171,092 (GRCm38) V702I probably damaging Het
Trappc10 A G 10: 78,211,523 (GRCm38) S380P possibly damaging Het
Trim24 G A 6: 37,903,652 (GRCm38) probably null Het
Ugt1a2 A G 1: 88,201,124 (GRCm38) Y163C probably damaging Het
Vmn1r215 A G 13: 23,076,173 (GRCm38) I128V probably benign Het
Vmn2r50 T A 7: 10,047,713 (GRCm38) E368D possibly damaging Het
Vmn2r59 T C 7: 42,043,766 (GRCm38) N470S probably damaging Het
Vps45 T C 3: 96,041,445 (GRCm38) T333A probably benign Het
Zbtb44 T A 9: 31,054,243 (GRCm38) D316E probably damaging Het
Zdhhc1 C T 8: 105,483,558 (GRCm38) V76M probably benign Het
Zfp235 T C 7: 24,142,124 (GRCm38) F656S probably damaging Het
Other mutations in Bcl2a1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01368:Bcl2a1a APN 9 88,957,447 (GRCm38) missense probably damaging 1.00
IGL02942:Bcl2a1a APN 9 88,957,042 (GRCm38) utr 5 prime probably benign
R0064:Bcl2a1a UTSW 9 88,957,463 (GRCm38) missense probably damaging 1.00
R1672:Bcl2a1a UTSW 9 88,957,450 (GRCm38) missense probably damaging 1.00
R4616:Bcl2a1a UTSW 9 88,957,453 (GRCm38) missense probably damaging 1.00
R4618:Bcl2a1a UTSW 9 88,957,304 (GRCm38) missense probably damaging 1.00
R4947:Bcl2a1a UTSW 9 88,957,282 (GRCm38) missense probably damaging 1.00
R7584:Bcl2a1a UTSW 9 88,957,292 (GRCm38) missense probably damaging 1.00
R8867:Bcl2a1a UTSW 9 88,957,450 (GRCm38) missense probably damaging 1.00
R8900:Bcl2a1a UTSW 9 88,957,258 (GRCm38) missense probably benign 0.17
R9685:Bcl2a1a UTSW 9 88,957,132 (GRCm38) missense probably benign 0.00
Z1177:Bcl2a1a UTSW 9 88,957,466 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-12-04