Incidental Mutation 'R5171:Bcl2l12'
ID 398713
Institutional Source Beutler Lab
Gene Symbol Bcl2l12
Ensembl Gene ENSMUSG00000003190
Gene Name BCL2 like 12
Synonyms 2810475P17Rik, 5430429M05Rik, Bcl-L12, Bcl2-L12
MMRRC Submission 042751-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5171 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 44640646-44647011 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 44640818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003290] [ENSMUST00000107843] [ENSMUST00000207443] [ENSMUST00000208829] [ENSMUST00000207755] [ENSMUST00000207370]
AlphaFold Q9D3J3
Predicted Effect probably benign
Transcript: ENSMUST00000003290
SMART Domains Protein: ENSMUSP00000003290
Gene: ENSMUSG00000003190

DomainStartEndE-ValueType
low complexity region 47 61 N/A INTRINSIC
low complexity region 123 139 N/A INTRINSIC
low complexity region 170 197 N/A INTRINSIC
SCOP:d1maz__ 227 243 4e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107843
SMART Domains Protein: ENSMUSP00000103474
Gene: ENSMUSG00000109324

DomainStartEndE-ValueType
Pfam:PRMT5 41 343 1.9e-8 PFAM
Pfam:MTS 78 162 1.1e-6 PFAM
Pfam:PrmA 79 181 1.3e-9 PFAM
Pfam:Methyltransf_31 86 226 4e-10 PFAM
Pfam:Methyltransf_18 88 192 6.2e-9 PFAM
Pfam:Methyltransf_11 93 192 1e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123517
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128816
AA Change: S475F
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141011
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150613
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152595
Predicted Effect probably benign
Transcript: ENSMUST00000207443
Predicted Effect probably benign
Transcript: ENSMUST00000208829
Predicted Effect probably benign
Transcript: ENSMUST00000207755
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208128
Predicted Effect probably benign
Transcript: ENSMUST00000207370
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207213
Meta Mutation Damage Score 0.0616 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins containing a Bcl-2 homology domain 2 (BH2). The encoded protein is an anti-apoptotic factor that acts as an inhibitor of caspases 3 and 7 in the cytoplasm. In the nucleus, it binds to the p53 tumor suppressor protein, preventing its association with target genes. Overexpression of this gene has been detected in a number of different cancers. There is a pseudogene for this gene on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C A 1: 130,670,584 (GRCm39) Q269K probably benign Het
Acad9 T A 3: 36,128,547 (GRCm39) I136N possibly damaging Het
Adtrp A G 13: 41,931,039 (GRCm39) S183P probably damaging Het
Atp11b C T 3: 35,887,086 (GRCm39) T690I probably damaging Het
Btnl7-ps T A 17: 34,752,503 (GRCm39) noncoding transcript Het
Ccl12 T C 11: 81,993,460 (GRCm39) C33R probably damaging Het
Cdc25a T A 9: 109,706,229 (GRCm39) S57R probably benign Het
Coro2a T A 4: 46,542,372 (GRCm39) probably benign Het
Cpne6 T C 14: 55,749,605 (GRCm39) V55A possibly damaging Het
Ddn A G 15: 98,704,207 (GRCm39) S362P possibly damaging Het
Dmpk C G 7: 18,821,944 (GRCm39) L301V probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Donson A G 16: 91,478,181 (GRCm39) V258A possibly damaging Het
Gm3336 G A 8: 71,174,524 (GRCm39) V163I probably benign Het
Gper1 C T 5: 139,412,413 (GRCm39) R253C probably damaging Het
Gpsm1 T A 2: 26,217,476 (GRCm39) probably benign Het
Hip1 A G 5: 135,469,156 (GRCm39) S251P probably damaging Het
Ifi214 A G 1: 173,354,200 (GRCm39) S157P possibly damaging Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Kntc1 T C 5: 123,937,907 (GRCm39) V1535A probably benign Het
Mbd3l1 A G 9: 18,396,430 (GRCm39) N185S probably benign Het
Mnx1 T C 5: 29,679,851 (GRCm39) Q252R unknown Het
Mroh3 A T 1: 136,119,394 (GRCm39) L463Q possibly damaging Het
Myom1 T C 17: 71,406,967 (GRCm39) V1030A possibly damaging Het
Or3a1d T C 11: 74,237,640 (GRCm39) T257A probably benign Het
Or5ak20 T C 2: 85,184,114 (GRCm39) D52G probably benign Het
Or5w1 T G 2: 87,486,888 (GRCm39) I126L possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Ranbp17 A G 11: 33,167,419 (GRCm39) Y1015H probably benign Het
Rasal1 C T 5: 120,801,829 (GRCm39) T256I probably benign Het
Rexo5 T A 7: 119,423,002 (GRCm39) I278N probably damaging Het
Rims2 T A 15: 39,300,499 (GRCm39) S77T probably damaging Het
Sdk2 C T 11: 113,741,808 (GRCm39) A804T probably benign Het
Slc24a2 T A 4: 86,914,871 (GRCm39) I589F probably benign Het
Slc25a38 T A 9: 119,951,181 (GRCm39) I217K probably benign Het
Slc5a7 T C 17: 54,583,704 (GRCm39) T529A probably benign Het
Spata22 T A 11: 73,227,034 (GRCm39) S83T probably damaging Het
Spata31e4 A T 13: 50,854,414 (GRCm39) T91S possibly damaging Het
Stac2 A T 11: 97,934,324 (GRCm39) C127S possibly damaging Het
Tep1 T C 14: 51,062,259 (GRCm39) H2531R probably benign Het
Tmem151a G T 19: 5,132,061 (GRCm39) R382S probably damaging Het
Trim60 T C 8: 65,453,176 (GRCm39) T358A probably benign Het
Unc13c T A 9: 73,665,236 (GRCm39) M1048L probably benign Het
Usp29 T C 7: 6,965,074 (GRCm39) S306P probably damaging Het
Zfp26 T C 9: 20,356,203 (GRCm39) K35R probably benign Het
Zfp462 T A 4: 55,016,986 (GRCm39) probably null Het
Other mutations in Bcl2l12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02475:Bcl2l12 APN 7 44,646,317 (GRCm39) missense possibly damaging 0.46
IGL02675:Bcl2l12 APN 7 44,640,824 (GRCm39) unclassified probably benign
R0684:Bcl2l12 UTSW 7 44,646,025 (GRCm39) missense probably benign 0.09
R1548:Bcl2l12 UTSW 7 44,642,242 (GRCm39) missense probably damaging 1.00
R4612:Bcl2l12 UTSW 7 44,646,009 (GRCm39) missense probably damaging 1.00
R4995:Bcl2l12 UTSW 7 44,643,615 (GRCm39) splice site probably null
R5910:Bcl2l12 UTSW 7 44,645,967 (GRCm39) critical splice donor site probably null
R5918:Bcl2l12 UTSW 7 44,640,888 (GRCm39) unclassified probably benign
R7112:Bcl2l12 UTSW 7 44,646,338 (GRCm39) missense probably damaging 1.00
R7471:Bcl2l12 UTSW 7 44,645,977 (GRCm39) missense possibly damaging 0.83
R9401:Bcl2l12 UTSW 7 44,643,674 (GRCm39) missense possibly damaging 0.92
R9671:Bcl2l12 UTSW 7 44,642,301 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TTCGTGCATTCACTCCAGTG -3'
(R):5'- GCTTAACCTCCGTCCTTAGAG -3'

Sequencing Primer
(F):5'- GTGCATTCACTCCAGTGCAAATG -3'
(R):5'- TCCGTCCTTAGAGCAGGGAC -3'
Posted On 2016-07-06