Incidental Mutation 'R1548:Bcl2l12'
ID172328
Institutional Source Beutler Lab
Gene Symbol Bcl2l12
Ensembl Gene ENSMUSG00000003190
Gene NameBCL2-like 12 (proline rich)
Synonyms2810475P17Rik, Bcl-L12, Bcl2-L12, 5430429M05Rik
MMRRC Submission 039587-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1548 (G1)
Quality Score225
Status Validated
Chromosome7
Chromosomal Location44991222-44998712 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to G at 44992818 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Arginine at position 215 (G215R)
Ref Sequence ENSEMBL: ENSMUSP00000003290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003284] [ENSMUST00000003290] [ENSMUST00000207342] [ENSMUST00000207443] [ENSMUST00000207755] [ENSMUST00000209066]
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: G215R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000003290
Gene: ENSMUSG00000003190
AA Change: G215R

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 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: ENSMUST00000207342
Predicted Effect probably benign
Transcript: ENSMUST00000207443
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207476
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207555
Predicted Effect probably benign
Transcript: ENSMUST00000207755
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208128
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209006
Predicted Effect probably benign
Transcript: ENSMUST00000209066
Meta Mutation Damage Score 0.354 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.3%
Validation Efficiency 99% (69/70)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610203C20Rik T C 9: 41,581,376 L116P probably damaging Het
A830018L16Rik A T 1: 11,518,594 R78S probably damaging Het
Acad10 G T 5: 121,626,040 probably benign Het
Acad10 G C 5: 121,626,041 probably benign Het
Ang2 C A 14: 51,195,533 E131* probably null Het
Ankfn1 T C 11: 89,526,541 N82D probably damaging Het
Anks1b T C 10: 90,049,985 I181T possibly damaging Het
Bnc2 A G 4: 84,275,957 Y1044H probably damaging Het
Cacna1s T C 1: 136,110,937 F1172S probably damaging Het
Cct8 A G 16: 87,485,584 I482T probably damaging Het
Cfap74 C T 4: 155,434,045 T580I probably benign Het
Cib1 A T 7: 80,228,414 Y105* probably null Het
Cpa1 G A 6: 30,642,335 G245D probably damaging Het
Csmd3 A G 15: 47,981,975 V801A possibly damaging Het
Ddx10 T C 9: 53,149,561 probably null Het
Ddx4 T C 13: 112,599,997 N613S probably damaging Het
Drd3 A G 16: 43,821,341 D340G probably benign Het
E2f4 A G 8: 105,304,688 *411W probably null Het
Fmnl2 A G 2: 53,105,537 E424G probably damaging Het
Foxp1 A T 6: 98,945,420 I450N probably damaging Het
Gm10229 G A 16: 89,015,389 probably benign Het
Gm5771 G T 6: 41,396,011 L72F probably damaging Het
Gm813 A T 16: 58,615,839 D40E probably benign Het
Gpr19 A G 6: 134,870,084 F175S possibly damaging Het
Gpr21 C T 2: 37,518,072 T210M probably damaging Het
Grhl2 C T 15: 37,336,323 A488V probably benign Het
Hif3a T C 7: 17,044,403 T435A probably benign Het
Hoxb4 C T 11: 96,318,899 R44* probably null Het
Ifi47 A G 11: 49,095,871 D155G probably damaging Het
Igdcc4 T C 9: 65,135,227 L142P probably benign Het
Ints6 G A 14: 62,713,692 P296L probably damaging Het
Itga3 A G 11: 95,046,919 probably null Het
Klra3 G C 6: 130,333,144 R138G probably benign Het
Lgals12 A T 19: 7,604,312 H50Q probably benign Het
Lrp12 A G 15: 39,872,506 S696P probably damaging Het
Lrp6 G A 6: 134,459,429 T1258I possibly damaging Het
Meis2 C T 2: 116,058,702 D190N probably damaging Het
Mon2 C T 10: 123,036,007 probably benign Het
Muc6 G T 7: 141,638,772 T1996N possibly damaging Het
Muc6 A G 7: 141,652,103 probably benign Het
Myo15 A G 11: 60,488,238 H1394R probably damaging Het
Myo5a A T 9: 75,171,746 I929F probably damaging Het
Nek6 T A 2: 38,568,895 Y141N probably damaging Het
Notch4 T A 17: 34,568,422 C319S probably damaging Het
Nwd2 A T 5: 63,800,182 D285V probably benign Het
Olfml1 T C 7: 107,590,375 S216P possibly damaging Het
Pabpc1l G T 2: 164,037,171 V313F possibly damaging Het
Pfkfb2 G T 1: 130,698,083 H453Q probably benign Het
Pigt C T 2: 164,501,519 T305I probably benign Het
Plxnb1 C T 9: 109,100,900 L275F possibly damaging Het
Ppm1d C T 11: 85,339,605 R350C probably damaging Het
Rassf1 C A 9: 107,551,846 P84T probably benign Het
Rgl3 G T 9: 21,980,706 R361S probably benign Het
Rnf213 G A 11: 119,442,707 R2914H probably damaging Het
Ryr2 A T 13: 11,554,549 C4956* probably null Het
Scaper C T 9: 55,816,670 R668H probably damaging Het
Spata6 T C 4: 111,779,006 F165L probably benign Het
Tcirg1 A T 19: 3,896,845 W694R probably benign Het
Tmem245 A T 4: 56,906,233 Y160* probably null Het
Tshr T C 12: 91,534,031 Y279H probably damaging Het
Ttf1 A C 2: 29,065,138 K171N probably damaging Het
Ubap2 C T 4: 41,199,872 A752T probably benign Het
Ugcg C T 4: 59,207,798 P46S probably benign Het
Xdh A G 17: 73,913,901 V611A probably damaging Het
Zfp142 G T 1: 74,570,104 H1408N probably damaging Het
Other mutations in Bcl2l12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02475:Bcl2l12 APN 7 44996893 missense possibly damaging 0.46
IGL02675:Bcl2l12 APN 7 44991400 unclassified probably benign
R0684:Bcl2l12 UTSW 7 44996601 missense probably benign 0.09
R4612:Bcl2l12 UTSW 7 44996585 missense probably damaging 1.00
R4995:Bcl2l12 UTSW 7 44994191 splice site probably null
R5171:Bcl2l12 UTSW 7 44991394 unclassified probably benign
R5910:Bcl2l12 UTSW 7 44996543 critical splice donor site probably null
R5918:Bcl2l12 UTSW 7 44991464 unclassified probably benign
R7112:Bcl2l12 UTSW 7 44996914 missense probably damaging 1.00
R7471:Bcl2l12 UTSW 7 44996553 missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- TCACAATTGCTGGTTCAAGCCAGAG -3'
(R):5'- GCTTGGTGGTAGCTTACACTGTTCC -3'

Sequencing Primer
(F):5'- ggcatacagcaggtgctc -3'
(R):5'- CGGCTCTGCATCGTAAACTG -3'
Posted On2014-04-13