Incidental Mutation 'R1672:Bcl2a1a'
ID 187713
Institutional Source Beutler Lab
Gene Symbol Bcl2a1a
Ensembl Gene ENSMUSG00000102037
Gene Name B cell leukemia/lymphoma 2 related protein A1a
Synonyms Hbpa1, Bfl-1, A1, Bcl2a1
MMRRC Submission 039708-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # R1672 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 88838973-88844469 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 88839503 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 134 (I134L)
Ref Sequence ENSEMBL: ENSMUSP00000096086 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098485]
AlphaFold Q07440
Predicted Effect probably damaging
Transcript: ENSMUST00000098485
AA Change: I134L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096086
Gene: ENSMUSG00000102037
AA Change: I134L

BCL 37 140 2.45e-41 SMART
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
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
2310079G19Rik G A 16: 88,424,096 (GRCm39) Q132* probably null Het
Aadacl4 T A 4: 144,349,889 (GRCm39) L382* probably null Het
Afg3l2 A G 18: 67,540,493 (GRCm39) I672T probably benign Het
Aftph A T 11: 20,676,762 (GRCm39) D282E probably benign Het
Agpat5 A G 8: 18,920,930 (GRCm39) N161S probably benign Het
Alpk2 C T 18: 65,414,030 (GRCm39) E1562K probably damaging Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Apobr A G 7: 126,186,723 (GRCm39) R745G probably benign Het
Arrdc5 T C 17: 56,607,144 (GRCm39) T34A possibly damaging Het
Astl T C 2: 127,189,163 (GRCm39) L163P probably damaging Het
Atf7ip2 A T 16: 10,027,005 (GRCm39) H91L probably damaging Het
Atp13a3 A T 16: 30,151,092 (GRCm39) S1073T possibly damaging Het
Brinp1 T C 4: 68,747,520 (GRCm39) probably null Het
Capn9 A G 8: 125,340,570 (GRCm39) N578S probably benign Het
Casp2 T A 6: 42,245,842 (GRCm39) D166E probably damaging Het
Ccr1l1 A T 9: 123,777,544 (GRCm39) I301N probably damaging Het
Chtop T A 3: 90,414,874 (GRCm39) T15S probably damaging Het
Coq5 T A 5: 115,417,975 (GRCm39) probably null Het
Crbn G A 6: 106,772,886 (GRCm39) P34L probably damaging Het
Crisp1 G T 17: 40,619,760 (GRCm39) D59E possibly damaging Het
Cyp4f14 A T 17: 33,128,210 (GRCm39) D268E probably benign Het
D5Ertd579e T C 5: 36,770,621 (GRCm39) D1258G possibly damaging Het
Dcp1b T C 6: 119,194,872 (GRCm39) S531P probably benign Het
Defb25 T C 2: 152,464,410 (GRCm39) M45V probably benign Het
Dffa T C 4: 149,190,702 (GRCm39) L77P probably damaging Het
Dixdc1 T C 9: 50,601,164 (GRCm39) Q361R probably damaging Het
Dnah1 A G 14: 30,998,157 (GRCm39) L2560P probably damaging Het
Fabp5 A G 3: 10,080,601 (GRCm39) T108A probably benign Het
Fam149a T G 8: 45,792,411 (GRCm39) probably null Het
Fam20c A G 5: 138,793,056 (GRCm39) Y430C probably damaging Het
Fat1 A G 8: 45,489,872 (GRCm39) T3595A probably damaging Het
Fbp1 A G 13: 63,015,245 (GRCm39) Y245H probably damaging Het
Frem1 C T 4: 82,917,128 (GRCm39) R605H probably benign Het
Fscb A G 12: 64,518,292 (GRCm39) I1058T unknown Het
Fyb2 A G 4: 104,808,059 (GRCm39) K373R probably benign Het
Ggta1 A T 2: 35,292,145 (GRCm39) Y387* probably null Het
Gm18856 T C 13: 14,140,342 (GRCm39) probably benign Het
Gm572 T C 4: 148,752,966 (GRCm39) S282P possibly damaging Het
Gpd2 A T 2: 57,247,712 (GRCm39) I552F probably damaging Het
Grk5 T C 19: 61,074,653 (GRCm39) probably null Het
Hivep1 T C 13: 42,313,760 (GRCm39) V2000A probably damaging Het
Ipo5 C T 14: 121,170,714 (GRCm39) L466F probably damaging Het
Itgb1 G A 8: 129,458,526 (GRCm39) S785N probably damaging Het
Itpr3 G A 17: 27,307,987 (GRCm39) R258K probably benign Het
Kcnk12 A G 17: 88,053,747 (GRCm39) V305A probably benign Het
Klf5 C T 14: 99,538,986 (GRCm39) T133I probably damaging Het
Lrig2 A G 3: 104,399,128 (GRCm39) I178T probably damaging Het
Lyrm4 A T 13: 36,276,907 (GRCm39) M30K probably benign Het
Mpv17 A G 5: 31,311,063 (GRCm39) Y7H probably damaging Het
Mrps22 T C 9: 98,478,869 (GRCm39) probably null Het
Myof A T 19: 37,931,927 (GRCm39) W967R probably damaging Het
Naip1 C T 13: 100,559,657 (GRCm39) D1116N probably benign Het
Or1e33 T C 11: 73,738,781 (GRCm39) T57A probably benign Het
Or6c66b C A 10: 129,376,561 (GRCm39) H52N probably benign Het
Or8g50 G A 9: 39,648,492 (GRCm39) C127Y probably damaging Het
Or9k2b T C 10: 130,016,261 (GRCm39) T163A probably benign Het
Ovol2 T C 2: 144,147,710 (GRCm39) Y180C probably damaging Het
Pacs1 T C 19: 5,202,337 (GRCm39) S418G probably benign Het
Pcdh1 T C 18: 38,325,233 (GRCm39) E903G probably damaging Het
Pcdhb15 A T 18: 37,607,713 (GRCm39) Y315F probably damaging Het
Pex1 T C 5: 3,676,085 (GRCm39) L891P probably damaging Het
Potefam1 T A 2: 111,051,119 (GRCm39) M226L probably benign Het
Ppfia2 G A 10: 106,666,429 (GRCm39) M378I possibly damaging Het
Ppp1r9a T A 6: 5,143,491 (GRCm39) probably null Het
Prm3 T C 16: 10,608,563 (GRCm39) E64G possibly damaging Het
Prmt6 T C 3: 110,157,887 (GRCm39) D134G possibly damaging Het
Prss42 G A 9: 110,629,996 (GRCm39) G250D probably damaging Het
Pwwp2b G A 7: 138,834,747 (GRCm39) V63I probably benign Het
Rbm17 T C 2: 11,590,530 (GRCm39) D375G possibly damaging Het
Rhbdl1 A T 17: 26,055,383 (GRCm39) probably null Het
Rims2 T A 15: 39,155,584 (GRCm39) D128E probably benign Het
Rock2 A G 12: 17,015,653 (GRCm39) K850R probably benign Het
Rreb1 T C 13: 38,114,513 (GRCm39) I624T probably benign Het
Rrp36 A T 17: 46,983,340 (GRCm39) D91E probably damaging Het
Scn7a C T 2: 66,527,944 (GRCm39) D849N possibly damaging Het
Sec24a A T 11: 51,634,775 (GRCm39) Y50* probably null Het
Sh2d4b A G 14: 40,614,921 (GRCm39) M1T probably null Het
Slc4a7 A G 14: 14,760,247 (GRCm38) I561V possibly damaging Het
Slc7a12 T C 3: 14,564,337 (GRCm39) V70A possibly damaging Het
Slfnl1 A T 4: 120,392,972 (GRCm39) I355F probably damaging Het
Spata2 C T 2: 167,325,439 (GRCm39) R460H probably damaging Het
Stk11ip C T 1: 75,505,629 (GRCm39) Q433* probably null Het
Susd1 T C 4: 59,411,395 (GRCm39) Y146C probably damaging Het
Susd5 A T 9: 113,897,890 (GRCm39) D115V probably damaging Het
Tas2r110 T A 6: 132,845,029 (GRCm39) V20E probably damaging Het
Tbc1d4 T C 14: 101,712,651 (GRCm39) Y694C possibly damaging Het
Tmem131 T C 1: 36,863,840 (GRCm39) E640G probably damaging Het
Togaram1 A G 12: 65,068,342 (GRCm39) T1782A probably benign Het
Trim24 T C 6: 37,892,214 (GRCm39) L249P probably damaging Het
Ttf1 T C 2: 28,957,164 (GRCm39) I478T probably damaging Het
Upf2 T A 2: 6,044,908 (GRCm39) probably null Het
Urb1 A T 16: 90,584,285 (GRCm39) C566S probably damaging Het
Vmn1r191 T C 13: 22,363,262 (GRCm39) N164S probably benign Het
Vmn2r81 T A 10: 79,104,112 (GRCm39) V245E probably damaging Het
Vwce T A 19: 10,630,459 (GRCm39) F506Y possibly damaging Het
Wnt8b T C 19: 44,499,715 (GRCm39) F155L probably damaging Het
Xrra1 A T 7: 99,547,647 (GRCm39) I279F probably benign Het
Zfp229 T C 17: 21,964,828 (GRCm39) S353P probably damaging Het
Zfp607b C T 7: 27,391,948 (GRCm39) H8Y possibly damaging Het
Zfp933 A T 4: 147,910,476 (GRCm39) H373Q probably damaging Het
Zfp938 A G 10: 82,060,982 (GRCm39) L546P probably benign Het
Zfp988 C T 4: 147,415,739 (GRCm39) R58C probably benign Het
Zkscan14 C T 5: 145,138,464 (GRCm39) V8I probably benign Het
Other mutations in Bcl2a1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01368:Bcl2a1a APN 9 88,839,500 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-05-09