Incidental Mutation 'R0064:Bcl2a1a'
ID 34410
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 038356-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # R0064 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 88956900-88962419 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to C at 88957463 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Alanine at position 138 (G138A)
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: G138A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096086
Gene: ENSMUSG00000102037
AA Change: G138A

DomainStartEndE-ValueType
BCL 37 140 2.45e-41 SMART
Meta Mutation Damage Score 0.5824 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 100% (55/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 G T 11: 110,144,872 (GRCm38) L641M probably damaging Het
Abca9 A C 11: 110,144,871 (GRCm38) L641R probably damaging Het
Abhd18 A G 3: 40,933,853 (GRCm38) I377M probably benign Het
Arhgef17 C A 7: 100,881,354 (GRCm38) M1408I probably benign Het
C4b A G 17: 34,738,856 (GRCm38) L617P probably damaging Het
Ccdc25 T A 14: 65,854,112 (GRCm38) I60K possibly damaging Het
Cdk1 T C 10: 69,345,077 (GRCm38) D101G probably benign Het
Cdon A G 9: 35,489,227 (GRCm38) H1079R probably benign Het
Cep126 A T 9: 8,130,182 (GRCm38) probably benign Het
Cic T A 7: 25,287,140 (GRCm38) S1299T probably damaging Het
Cic C A 7: 25,287,141 (GRCm38) S1299Y probably damaging Het
Clstn1 G A 4: 149,634,796 (GRCm38) V361M probably damaging Het
Crlf3 A G 11: 80,057,902 (GRCm38) I239T possibly damaging Het
Cstf2t T A 19: 31,083,299 (GRCm38) N78K probably damaging Het
Cul1 A G 6: 47,502,415 (GRCm38) probably benign Het
D430041D05Rik T G 2: 104,249,157 (GRCm38) T1194P probably damaging Het
Fbp2 A T 13: 62,854,048 (GRCm38) F118I probably damaging Het
Fbxw14 A T 9: 109,287,592 (GRCm38) Y16* probably null Het
Fgd3 T G 13: 49,296,425 (GRCm38) D116A possibly damaging Het
Gm7168 C T 17: 13,949,859 (GRCm38) T496I probably benign Het
Hsh2d G A 8: 72,200,460 (GRCm38) D229N probably benign Het
Klhl5 T A 5: 65,141,288 (GRCm38) S137T probably benign Het
Knl1 T A 2: 119,076,243 (GRCm38) N1604K probably benign Het
Lpcat1 T A 13: 73,514,466 (GRCm38) N463K probably damaging Het
Lpl A G 8: 68,892,704 (GRCm38) H120R probably damaging Het
Man1a2 A T 3: 100,591,883 (GRCm38) S412T possibly damaging Het
Mcc C G 18: 44,519,516 (GRCm38) probably benign Het
Myo18a G T 11: 77,847,344 (GRCm38) R1704L probably damaging Het
Nlrc3 G T 16: 3,964,087 (GRCm38) T486K possibly damaging Het
Nrip1 T A 16: 76,294,670 (GRCm38) probably benign Het
Nutf2 A G 8: 105,878,809 (GRCm38) D92G probably damaging Het
Obscn A C 11: 59,027,466 (GRCm38) V6260G probably damaging Het
Olfr320 G A 11: 58,684,475 (GRCm38) V201M probably benign Het
Olfr714 T C 7: 107,074,280 (GRCm38) F151L probably benign Het
Plce1 T C 19: 38,780,784 (GRCm38) probably null Het
Pmpca C A 2: 26,395,507 (GRCm38) D498E probably benign Het
Pnpla7 G T 2: 24,997,227 (GRCm38) E28* probably null Het
Polg C A 7: 79,461,884 (GRCm38) W206C probably damaging Het
Ptprt C T 2: 161,927,791 (GRCm38) probably benign Het
Slc7a14 T C 3: 31,227,060 (GRCm38) D367G probably damaging Het
Spata31 T C 13: 64,922,098 (GRCm38) Y687H probably damaging Het
Sybu T A 15: 44,672,993 (GRCm38) T646S probably benign Het
Thbs1 A T 2: 118,123,914 (GRCm38) probably null Het
Tie1 A G 4: 118,489,701 (GRCm38) V2A possibly damaging Het
Tma16 A T 8: 66,476,805 (GRCm38) I179K possibly damaging Het
Tns3 G A 11: 8,435,856 (GRCm38) Q1381* probably null Het
Trank1 A G 9: 111,343,195 (GRCm38) D84G probably damaging Het
Ttc3 A T 16: 94,422,247 (GRCm38) H197L possibly damaging Het
Urb1 A G 16: 90,779,140 (GRCm38) F843L probably benign Het
Vmn1r24 T G 6: 57,956,018 (GRCm38) I172L probably benign Het
Vmn2r1 T A 3: 64,104,788 (GRCm38) I690N possibly damaging Het
Vmn2r111 T A 17: 22,572,072 (GRCm38) I82L probably benign Het
Zfp287 A T 11: 62,714,938 (GRCm38) L370H possibly damaging Het
Zfp608 A T 18: 54,898,816 (GRCm38) I684N probably benign 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
R1672:Bcl2a1a UTSW 9 88,957,450 (GRCm38) missense probably damaging 1.00
R2511:Bcl2a1a UTSW 9 88,957,453 (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
(F):5'- TGGCATCATTAACTGGGGAAGGATTG -3'
(R):5'- CAACCATGCACTTCAAACTGGTAAAGG -3'

Sequencing Primer
(F):5'- GGAAGGATTGTGACTATATTTGCC -3'
(R):5'- TATAGGCCATTGGAAATGACCC -3'
Posted On 2013-05-09