Incidental Mutation 'R7112:Bcl2l12'
ID551560
Institutional Source Beutler Lab
Gene Symbol Bcl2l12
Ensembl Gene ENSMUSG00000003190
Gene NameBCL2-like 12 (proline rich)
Synonyms2810475P17Rik, Bcl-L12, Bcl2-L12, 5430429M05Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7112 (G1)
Quality Score225.009
Status Not validated
Chromosome7
Chromosomal Location44991222-44998712 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 44996914 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 24 (G24D)
Ref Sequence ENSEMBL: ENSMUSP00000003290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003284] [ENSMUST00000003290] [ENSMUST00000107834] [ENSMUST00000207128] [ENSMUST00000207342] [ENSMUST00000207443] [ENSMUST00000207521] [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: G24D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000003290
Gene: ENSMUSG00000003190
AA Change: G24D

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: ENSMUST00000107834
SMART Domains Protein: ENSMUSP00000103465
Gene: ENSMUSG00000003184

DomainStartEndE-ValueType
IRF 1 112 6.92e-50 SMART
IRF-3 195 373 4.87e-73 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000207128
Predicted Effect probably benign
Transcript: ENSMUST00000207129
Predicted Effect probably damaging
Transcript: ENSMUST00000207342
AA Change: G24D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000207443
AA Change: G24D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000207521
Predicted Effect probably damaging
Transcript: ENSMUST00000207755
AA Change: G24D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000208958
Predicted Effect probably benign
Transcript: ENSMUST00000209066
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak2 G T 12: 112,783,119 A1036E Het
Baz2b A T 2: 59,962,184 H533Q possibly damaging Het
Bcl2l11 T A 2: 128,158,315 W193R probably damaging Het
Cacna1b A G 2: 24,690,761 V691A probably damaging Het
Cdh8 T C 8: 99,196,352 D304G probably damaging Het
Ces3a A T 8: 105,057,962 Q525H probably damaging Het
Csmd1 C A 8: 16,101,128 C1391F probably damaging Het
Cul7 G T 17: 46,651,698 G85V probably damaging Het
Dnah8 G A 17: 30,871,392 V4623I possibly damaging Het
Dnhd1 T A 7: 105,713,985 L3918Q probably damaging Het
Exoc4 A T 6: 33,921,488 N881Y probably damaging Het
Flt1 G C 5: 147,603,569 A770G probably damaging Het
Fndc5 A G 4: 129,142,122 N184S probably benign Het
Folh1 A G 7: 86,775,637 probably null Het
Frem3 A T 8: 80,612,031 T318S probably damaging Het
Gba2 A G 4: 43,568,453 V671A probably benign Het
Gm7102 T G 19: 61,175,559 D146A probably damaging Het
Gpt2 G A 8: 85,518,052 E325K probably benign Het
Jph2 G A 2: 163,375,784 T324M probably damaging Het
Kank4 A G 4: 98,761,521 V937A probably damaging Het
Kdm3a T A 6: 71,632,170 E24D probably benign Het
Kidins220 T A 12: 25,004,019 L464Q probably damaging Het
Loxhd1 T A 18: 77,388,514 V1159E probably damaging Het
Malrd1 A G 2: 15,925,176 N1498D unknown Het
Mrgprb5 C T 7: 48,168,907 V27I probably benign Het
Mtfr2 A G 10: 20,357,566 N294D probably damaging Het
Muc6 A T 7: 141,649,277 L498H probably damaging Het
N4bp2 A G 5: 65,790,707 T227A possibly damaging Het
Nin C T 12: 70,102,799 R12Q Het
Obscn G C 11: 59,029,325 A27G Het
Olfr284 T A 15: 98,340,540 M150L possibly damaging Het
Olfr582 G A 7: 103,041,655 D54N probably damaging Het
Olfr729 T G 14: 50,147,935 E313A probably benign Het
Olfr746 T A 14: 50,654,126 D296E probably benign Het
Olfr912 T A 9: 38,582,034 Y252* probably null Het
Polr2a A G 11: 69,735,309 S1672P unknown Het
Qprt A G 7: 127,108,189 V245A probably damaging Het
Rab11fip5 T A 6: 85,348,194 E377V probably damaging Het
Rere A G 4: 150,406,604 T71A probably benign Het
Ret A T 6: 118,197,102 L11Q possibly damaging Het
Rp1 C T 1: 4,349,018 V624I probably benign Het
Scaf8 T A 17: 3,163,029 L131H unknown Het
Scgb2a2 A G 19: 9,851,657 R58G probably benign Het
Scn11a A G 9: 119,754,809 I1580T probably damaging Het
Slco4c1 T G 1: 96,841,141 K332T probably damaging Het
Sntg1 T G 1: 8,448,065 Y368S possibly damaging Het
Stim1 A G 7: 102,408,408 T143A probably benign Het
Tbr1 A G 2: 61,811,816 D475G probably benign Het
Tcp1 A G 17: 12,917,873 D47G probably damaging Het
Tpgs2 T C 18: 25,149,137 D119G probably damaging Het
Trim40 C A 17: 36,882,642 R225M probably null Het
Tro GCAGTGCTTGGTCCTCCGAAGCCACCTCCAGTGCTTGGTCCTCCGAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTATTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCC GCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTATTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCC X: 150,645,856 probably benign Het
Trpm1 A T 7: 64,235,845 N870Y probably damaging Het
Tsr3 A G 17: 25,240,471 D47G probably benign Het
Vil1 G A 1: 74,416,002 G38R probably damaging Het
Vmn2r91 A T 17: 18,105,618 Q166L possibly damaging Het
Wdr33 C T 18: 31,893,003 T919I unknown Het
Wdr36 T C 18: 32,839,451 V64A probably benign Het
Xpnpep1 T C 19: 53,010,107 I237V probably benign Het
Zfp780b A T 7: 27,963,141 I663N probably damaging Het
Zfyve9 G A 4: 108,650,322 A513V probably benign 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
R1548:Bcl2l12 UTSW 7 44992818 missense probably damaging 1.00
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
R7471:Bcl2l12 UTSW 7 44996553 missense possibly damaging 0.83
Predicted Primers PCR Primer
(F):5'- TCCTAGGGACAAGAACCTCG -3'
(R):5'- CACCTTTTCCTTGGAGTTAGGC -3'

Sequencing Primer
(F):5'- GAACCTCGGAGTTATCCCGAAG -3'
(R):5'- TGGAGTTAGGCGCCCTCTTC -3'
Posted On2019-05-15