Incidental Mutation 'IGL02675:Bcl2l12'
ID 303109
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcl2l12
Ensembl Gene ENSMUSG00000003190
Gene Name BCL2 like 12
Synonyms 2810475P17Rik, 5430429M05Rik, Bcl-L12, Bcl2-L12
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02675
Quality Score
Status
Chromosome 7
Chromosomal Location 44640646-44647011 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 44640824 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147098 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003290] [ENSMUST00000107843] [ENSMUST00000207443] [ENSMUST00000207755] [ENSMUST00000207370] [ENSMUST00000208829]
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: ENSMUST00000141011
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150613
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152595
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207213
Predicted Effect probably benign
Transcript: ENSMUST00000207443
Predicted Effect probably benign
Transcript: ENSMUST00000207755
Predicted Effect probably benign
Transcript: ENSMUST00000207370
Predicted Effect probably benign
Transcript: ENSMUST00000208829
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208128
Coding Region Coverage
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano8 A G 8: 71,936,184 (GRCm39) I204T probably damaging Het
Anxa8 A G 14: 33,815,371 (GRCm39) D150G probably damaging Het
Arel1 T C 12: 84,977,002 (GRCm39) T438A probably damaging Het
Asphd1 T C 7: 126,546,006 (GRCm39) probably benign Het
Cand1 A G 10: 119,055,602 (GRCm39) I87T probably damaging Het
Ccdc80 A C 16: 44,936,695 (GRCm39) T707P probably damaging Het
Ccn6 A G 10: 39,027,236 (GRCm39) V332A possibly damaging Het
Cdh9 T A 15: 16,849,162 (GRCm39) probably null Het
Chrd T C 16: 20,558,699 (GRCm39) probably benign Het
Cpn1 T C 19: 43,969,369 (GRCm39) Q98R probably benign Het
D630045J12Rik A G 6: 38,172,420 (GRCm39) S583P possibly damaging Het
Dnah7a A G 1: 53,543,183 (GRCm39) I2329T possibly damaging Het
Egln3 A G 12: 54,249,996 (GRCm39) S118P probably benign Het
Gfra1 G A 19: 58,441,787 (GRCm39) T48I probably damaging Het
Hapln3 C T 7: 78,767,596 (GRCm39) probably null Het
Heatr3 T C 8: 88,871,185 (GRCm39) F180L possibly damaging Het
Herc2 T A 7: 55,813,849 (GRCm39) S2661T probably damaging Het
Hook3 A T 8: 26,551,462 (GRCm39) L126Q possibly damaging Het
Hoxd8 T G 2: 74,536,930 (GRCm39) L214R probably damaging Het
Ifna1 T G 4: 88,768,670 (GRCm39) L116R probably damaging Het
Il31ra T A 13: 112,660,886 (GRCm39) T487S probably benign Het
Kifc2 C T 15: 76,547,179 (GRCm39) R252W probably damaging Het
Meox2 A G 12: 37,228,333 (GRCm39) D290G probably damaging Het
Micu2 A G 14: 58,182,834 (GRCm39) probably benign Het
Myh9 T C 15: 77,673,130 (GRCm39) T406A possibly damaging Het
Naip1 T A 13: 100,545,626 (GRCm39) M1301L probably benign Het
Pbrm1 T C 14: 30,828,244 (GRCm39) L1341P possibly damaging Het
Pcna-ps2 C A 19: 9,261,323 (GRCm39) A194E probably benign Het
Pdcd10 G A 3: 75,434,901 (GRCm39) T130I probably damaging Het
Pprc1 G A 19: 46,051,946 (GRCm39) G491D probably damaging Het
Prss57 A G 10: 79,623,309 (GRCm39) V46A probably benign Het
Ptcd3 A G 6: 71,860,426 (GRCm39) probably null Het
Riok1 C T 13: 38,234,219 (GRCm39) P262S probably damaging Het
Rnf13 A G 3: 57,686,817 (GRCm39) N70S probably benign Het
Skint7 T A 4: 111,839,178 (GRCm39) D157E probably benign Het
Sri T C 5: 8,117,534 (GRCm39) F191S probably damaging Het
Stat5b T C 11: 100,678,200 (GRCm39) R638G probably benign Het
Suds3 C T 5: 117,232,970 (GRCm39) probably null Het
Tmem19 A G 10: 115,178,478 (GRCm39) L281P probably damaging Het
Tmf1 A G 6: 97,141,003 (GRCm39) probably benign Het
Trio A G 15: 27,768,125 (GRCm39) probably benign Het
Usp28 T C 9: 48,950,391 (GRCm39) I940T possibly damaging Het
Zfp280d T A 9: 72,219,504 (GRCm39) I227K probably benign Het
Zfp335 A G 2: 164,752,609 (GRCm39) V45A probably benign Het
Other mutations in Bcl2l12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02475:Bcl2l12 APN 7 44,646,317 (GRCm39) missense possibly damaging 0.46
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
R9671:Bcl2l12 UTSW 7 44,642,301 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16