Incidental Mutation 'PIT4243001:Bcl2l11'
ID 554445
Institutional Source Beutler Lab
Gene Symbol Bcl2l11
Ensembl Gene ENSMUSG00000027381
Gene Name BCL2 like 11
Synonyms Bim, Bod, 1500006F24Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.536) question?
Stock # PIT4243001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 127967958-128004467 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 127989026 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 135 (E135G)
Ref Sequence ENSEMBL: ENSMUSP00000105970 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019281] [ENSMUST00000103210] [ENSMUST00000103211] [ENSMUST00000110341]
AlphaFold O54918
Predicted Effect probably benign
Transcript: ENSMUST00000019281
AA Change: E49G

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000019281
Gene: ENSMUSG00000027381
AA Change: E49G

DomainStartEndE-ValueType
Pfam:Bim_N 4 40 1.2e-24 PFAM
Pfam:Bclx_interact 41 79 1.1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103210
AA Change: E79G

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000099499
Gene: ENSMUSG00000027381
AA Change: E79G

DomainStartEndE-ValueType
Pfam:Bim_N 4 40 6.7e-24 PFAM
Pfam:Bclx_interact 71 109 9.7e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103211
AA Change: E49G

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099500
Gene: ENSMUSG00000027381
AA Change: E49G

DomainStartEndE-ValueType
Pfam:Bim_N 4 40 1.2e-24 PFAM
Pfam:Bclx_interact 41 79 1.1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110341
AA Change: E135G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000105970
Gene: ENSMUSG00000027381
AA Change: E135G

DomainStartEndE-ValueType
Pfam:Bim_N 4 40 1.3e-24 PFAM
low complexity region 80 90 N/A INTRINSIC
Pfam:Bclx_interact 128 165 3.6e-23 PFAM
Coding Region Coverage
  • 1x: 92.7%
  • 3x: 90.5%
  • 10x: 85.2%
  • 20x: 74.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains a Bcl-2 homology domain 3 (BH3). It has been shown to interact with other members of the BCL-2 protein family and to act as an apoptotic activator. The expression of this gene can be induced by nerve growth factor (NGF), as well as by the forkhead transcription factor FKHR-L1, which suggests a role of this gene in neuronal and lymphocyte apoptosis. Transgenic studies of the mouse counterpart suggested that this gene functions as an essential initiator of apoptosis in thymocyte-negative selection. Several alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2013]
PHENOTYPE: Consistent with this gene's role in hematopoietic homeostasis, homozygous null mutants accumulate lymphoid and myeloid cells and succumb to autoimmune kidney disease. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A T 5: 88,119,999 (GRCm39) E252V possibly damaging Het
Abhd13 T C 8: 10,037,967 (GRCm39) F188S possibly damaging Het
Abtb1 A G 6: 88,815,708 (GRCm39) V225A probably benign Het
Accs A G 2: 93,671,679 (GRCm39) M237T probably benign Het
Adcy9 A G 16: 4,236,271 (GRCm39) I380T probably damaging Het
Add3 T C 19: 53,225,121 (GRCm39) S414P probably benign Het
Ak3 C T 19: 29,015,271 (GRCm39) probably null Het
Atg14 T C 14: 47,792,031 (GRCm39) E132G possibly damaging Het
Brwd1 G A 16: 95,803,871 (GRCm39) Q2100* probably null Het
Card11 A C 5: 140,894,359 (GRCm39) V90G possibly damaging Het
Celsr3 T C 9: 108,709,507 (GRCm39) V1451A probably benign Het
Clip4 T C 17: 72,113,723 (GRCm39) I291T probably damaging Het
Clk1 C T 1: 58,458,836 (GRCm39) D179N probably damaging Het
Cyp11b2 A G 15: 74,723,302 (GRCm39) L454P probably damaging Het
Cyp2a12 C A 7: 26,734,198 (GRCm39) S377Y probably benign Het
Ep400 A G 5: 110,883,446 (GRCm39) S663P unknown Het
Erich6 G A 3: 58,537,300 (GRCm39) T238I possibly damaging Het
Herc1 T A 9: 66,279,489 (GRCm39) H132Q probably benign Het
Hk2 A G 6: 82,707,858 (GRCm39) C704R probably damaging Het
Ift74 A T 4: 94,575,141 (GRCm39) R531W possibly damaging Het
Ism2 T C 12: 87,333,832 (GRCm39) E71G probably benign Het
Lipe A C 7: 25,094,971 (GRCm39) S22A probably benign Het
Myl10 A G 5: 136,723,147 (GRCm39) D32G probably benign Het
Nomo1 A G 7: 45,693,705 (GRCm39) H179R probably damaging Het
Or1ad6 T C 11: 50,860,379 (GRCm39) F178S probably damaging Het
Or2n1b T C 17: 38,460,394 (GRCm39) F305S probably benign Het
Pdpn T A 4: 142,997,108 (GRCm39) T129S probably damaging Het
Pold1 C T 7: 44,191,582 (GRCm39) V135I possibly damaging Het
Rasgrp3 T A 17: 75,807,134 (GRCm39) N199K probably damaging Het
Skil T C 3: 31,167,714 (GRCm39) S449P probably damaging Het
Spag16 T C 1: 69,892,540 (GRCm39) L107P probably damaging Het
Tbccd1 A G 16: 22,641,087 (GRCm39) M430T probably damaging Het
Tnfaip3 G A 10: 18,887,322 (GRCm39) L68F probably damaging Het
Trrap G A 5: 144,733,781 (GRCm39) R878H probably benign Het
Vasn T C 16: 4,467,480 (GRCm39) S476P probably damaging Het
Vmn2r110 T A 17: 20,802,379 (GRCm39) M499L probably benign Het
Wwp1 T C 4: 19,638,631 (GRCm39) T571A probably damaging Het
Zfp608 C A 18: 55,031,096 (GRCm39) G948V probably damaging Het
Zswim5 A G 4: 116,841,975 (GRCm39) I852V probably benign Het
Other mutations in Bcl2l11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01794:Bcl2l11 APN 2 127,970,568 (GRCm39) missense probably damaging 1.00
R1656:Bcl2l11 UTSW 2 128,000,176 (GRCm39) missense probably benign 0.07
R4548:Bcl2l11 UTSW 2 127,971,566 (GRCm39) missense probably benign 0.03
R4871:Bcl2l11 UTSW 2 127,970,961 (GRCm39) intron probably benign
R5941:Bcl2l11 UTSW 2 127,969,703 (GRCm39) unclassified probably benign
R7112:Bcl2l11 UTSW 2 128,000,235 (GRCm39) missense probably damaging 1.00
R7878:Bcl2l11 UTSW 2 127,970,608 (GRCm39) nonsense probably null
R8080:Bcl2l11 UTSW 2 127,970,586 (GRCm39) missense probably damaging 1.00
R8529:Bcl2l11 UTSW 2 127,970,796 (GRCm39) missense possibly damaging 0.95
R8980:Bcl2l11 UTSW 2 128,000,200 (GRCm39) missense possibly damaging 0.94
R9051:Bcl2l11 UTSW 2 128,000,221 (GRCm39) missense probably damaging 0.99
Z1177:Bcl2l11 UTSW 2 127,989,113 (GRCm39) missense probably damaging 1.00
Z1177:Bcl2l11 UTSW 2 127,970,915 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGTTCTAAACACAGGGTCGAG -3'
(R):5'- TTCACACTCTATCTCAGTTAAAGCC -3'

Sequencing Primer
(F):5'- TTCTAAACACAGGGTCGAGAGTTCC -3'
(R):5'- CCTTAGATGCACCAGGTCAGAG -3'
Posted On 2019-06-07