Incidental Mutation 'R9671:Bcl2l12'
ID 728046
Institutional Source Beutler Lab
Gene Symbol Bcl2l12
Ensembl Gene ENSMUSG00000003190
Gene Name BCL2 like 12
Synonyms 2810475P17Rik, 5430429M05Rik, Bcl-L12, Bcl2-L12
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9671 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 44640646-44647011 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 44642301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 195 (P195Q)
Ref Sequence ENSEMBL: ENSMUSP00000003290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003284] [ENSMUST00000003290] [ENSMUST00000207342] [ENSMUST00000207443] [ENSMUST00000207755] [ENSMUST00000209066]
AlphaFold Q9D3J3
Predicted Effect probably benign
Transcript: ENSMUST00000003284
SMART Domains Protein: ENSMUSP00000003284
Gene: ENSMUSG00000003184

DomainStartEndE-ValueType
IRF 1 112 6.92e-50 SMART
IRF-3 195 373 4.87e-73 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000003290
AA Change: P195Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000003290
Gene: ENSMUSG00000003190
AA Change: P195Q

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: ENSMUST00000207342
Predicted Effect probably benign
Transcript: ENSMUST00000207443
Predicted Effect probably benign
Transcript: ENSMUST00000207755
Predicted Effect probably benign
Transcript: ENSMUST00000209066
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
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
0610040J01Rik T A 5: 64,055,948 (GRCm39) L228* probably null Het
Acsf2 T C 11: 94,460,802 (GRCm39) D368G probably benign Het
Adat2 T A 10: 13,438,452 (GRCm39) N177K probably damaging Het
Adgrf5 G T 17: 43,760,795 (GRCm39) R830M probably damaging Het
Apoh G A 11: 108,286,792 (GRCm39) W72* probably null Het
Cacna1b T C 2: 24,596,282 (GRCm39) M470V probably benign Het
Ccdc188 A T 16: 18,036,268 (GRCm39) R79* probably null Het
Cd34 T A 1: 194,641,501 (GRCm39) M309K probably damaging Het
Clec4a2 A T 6: 123,101,942 (GRCm39) K32N possibly damaging Het
Csmd3 G T 15: 47,845,299 (GRCm39) P88H Het
Def6 A G 17: 28,438,755 (GRCm39) S154G probably benign Het
Dot1l T C 10: 80,620,613 (GRCm39) L530P probably damaging Het
Fam13a A G 6: 58,951,014 (GRCm39) probably null Het
Fat3 G A 9: 16,286,871 (GRCm39) A884V possibly damaging Het
Frem3 C A 8: 81,339,134 (GRCm39) H476N probably benign Het
Gm3404 T C 5: 146,463,031 (GRCm39) V71A probably benign Het
Hnf4g T G 3: 3,703,273 (GRCm39) S53R probably benign Het
Ighv13-2 T C 12: 114,321,796 (GRCm39) N15D probably benign Het
Jak1 T C 4: 101,034,926 (GRCm39) K339E possibly damaging Het
Klhl35 C G 7: 99,117,702 (GRCm39) P82R probably benign Het
Klhl40 T A 9: 121,607,743 (GRCm39) V301E probably benign Het
Knl1 A T 2: 118,901,089 (GRCm39) N930I probably damaging Het
Ltbp1 A G 17: 75,603,217 (GRCm39) probably null Het
Mapk7 T C 11: 61,382,498 (GRCm39) D68G probably damaging Het
Myo3b A G 2: 70,086,908 (GRCm39) H852R probably damaging Het
Or51a6 A T 7: 102,604,633 (GRCm39) H58Q probably benign Het
Pkd2 A G 5: 104,637,256 (GRCm39) D623G probably damaging Het
Pramel14 A C 4: 143,719,687 (GRCm39) I226S probably benign Het
Rfxank T C 8: 70,588,198 (GRCm39) T118A probably benign Het
Rxrb T A 17: 34,252,020 (GRCm39) probably null Het
Sec14l3 G A 11: 4,025,486 (GRCm39) V337M probably damaging Het
Sema3e A G 5: 14,212,217 (GRCm39) T98A probably benign Het
Ska1 A T 18: 74,333,010 (GRCm39) M136K probably damaging Het
Slc19a3 T C 1: 83,000,297 (GRCm39) D240G probably benign Het
Snph T C 2: 151,436,331 (GRCm39) Y199C probably damaging Het
Sorl1 A T 9: 41,943,077 (GRCm39) I933N possibly damaging Het
Spag16 C A 1: 69,883,495 (GRCm39) H75N probably benign Het
Spice1 C T 16: 44,199,671 (GRCm39) R708C probably benign Het
Tet3 C A 6: 83,381,136 (GRCm39) S344I possibly damaging Het
Trav5-4 A G 14: 53,941,816 (GRCm39) E63G possibly damaging Het
Trp73 G A 4: 154,148,403 (GRCm39) P337L probably benign Het
Ttn A G 2: 76,778,359 (GRCm39) F1343L unknown Het
Vipas39 T C 12: 87,292,985 (GRCm39) H320R probably benign Het
Vmn2r4 T C 3: 64,317,271 (GRCm39) I156V probably benign Het
Wdr81 T C 11: 75,345,189 (GRCm39) D26G probably damaging Het
Zscan4d A T 7: 10,898,945 (GRCm39) F111I probably damaging 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
R5171:Bcl2l12 UTSW 7 44,640,818 (GRCm39) unclassified probably benign
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
Predicted Primers PCR Primer
(F):5'- GGCGTTCTGGAAGAAAACCTG -3'
(R):5'- GTGGTAGCTTACACTGTTCCTC -3'

Sequencing Primer
(F):5'- CCTGTCAACTGTCAAGATGTCAG -3'
(R):5'- CTCTGCCCCTCAGCTGG -3'
Posted On 2022-10-06