Incidental Mutation 'IGL03372:Bcl2l10'
ID 420359
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bcl2l10
Ensembl Gene ENSMUSG00000032191
Gene Name Bcl2-like 10
Synonyms Diva, Boo
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03372
Quality Score
Status
Chromosome 9
Chromosomal Location 75255040-75258922 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 75255329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 49 (I49V)
Ref Sequence ENSEMBL: ENSMUSP00000034709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034709] [ENSMUST00000076889] [ENSMUST00000213990] [ENSMUST00000215875]
AlphaFold Q9Z0F3
PDB Structure Solution structure of a divergent Bcl-2 protein [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000034709
AA Change: I49V

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000034709
Gene: ENSMUSG00000032191
AA Change: I49V

DomainStartEndE-ValueType
BCL 42 151 1.35e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000076889
SMART Domains Protein: ENSMUSP00000076155
Gene: ENSMUSG00000032192

DomainStartEndE-ValueType
WD40 94 133 3.52e-9 SMART
WD40 136 175 9.94e-1 SMART
WD40 184 223 9.9e-4 SMART
WD40 226 267 2.42e-7 SMART
WD40 270 309 1.99e-8 SMART
WD40 312 353 5.97e-1 SMART
WD40 356 395 6.04e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000213990
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215346
Predicted Effect probably benign
Transcript: ENSMUST00000215875
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216290
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains conserved BH4, BH1 and BH2 domains. This protein can interact with other members of BCL-2 protein family including BCL2, BCL2L1/BCL-X(L), and BAX. Overexpression of this gene has been shown to suppress cell apoptosis possibly through the prevention of cytochrome C release from the mitochondria, and thus activating caspase-3 activation. The mouse counterpart of this protein is found to interact with Apaf1 and forms a protein complex with Caspase 9, which suggests the involvement of this protein in APAF1 and CASPASE 9 related apoptotic pathway. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation exhibit no obvious abnormalities. They are viable and fertile with normal reproductive capacity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb2 C T 4: 129,911,362 (GRCm39) A1161V probably benign Het
Alpi A G 1: 87,028,350 (GRCm39) probably benign Het
Asxl1 A T 2: 153,242,333 (GRCm39) N961I probably damaging Het
Bod1l T C 5: 41,962,578 (GRCm39) probably benign Het
Ccl20 A G 1: 83,095,597 (GRCm39) M54V probably benign Het
Cep72 A C 13: 74,191,637 (GRCm39) L200V possibly damaging Het
Clic4 T C 4: 134,945,925 (GRCm39) D164G probably damaging Het
Col5a3 G A 9: 20,686,624 (GRCm39) P1334S unknown Het
Dab2 T C 15: 6,459,030 (GRCm39) L293P probably damaging Het
Ddx50 A T 10: 62,479,109 (GRCm39) S140T probably benign Het
Dnah6 A T 6: 73,052,833 (GRCm39) M2897K probably benign Het
Dnmt3a A G 12: 3,952,666 (GRCm39) E721G probably damaging Het
Esyt3 A T 9: 99,218,109 (GRCm39) probably benign Het
Fat4 G T 3: 38,943,283 (GRCm39) K725N possibly damaging Het
Fezf1 T C 6: 23,246,909 (GRCm39) I308V probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gapdhs T C 7: 30,432,674 (GRCm39) probably benign Het
Gm10109 A T 7: 43,871,126 (GRCm39) probably benign Het
Gpd2 G A 2: 57,245,519 (GRCm39) V405I probably damaging Het
Gtf2e1 T C 16: 37,356,077 (GRCm39) probably benign Het
Iqca1 A G 1: 90,072,691 (GRCm39) I63T possibly damaging Het
Kcmf1 A C 6: 72,826,546 (GRCm39) L161R probably damaging Het
Kif19a G T 11: 114,670,044 (GRCm39) V80L probably damaging Het
Kif21a A T 15: 90,840,579 (GRCm39) M1179K probably benign Het
Krtap19-2 A G 16: 88,670,774 (GRCm39) probably benign Het
Ksr2 T A 5: 117,840,783 (GRCm39) I575N possibly damaging Het
L3mbtl1 A T 2: 162,813,077 (GRCm39) probably benign Het
Larp1b A T 3: 40,978,962 (GRCm39) H6L possibly damaging Het
Map4k2 T A 19: 6,392,279 (GRCm39) probably benign Het
Mdh1b T C 1: 63,759,154 (GRCm39) H146R possibly damaging Het
Morc2a T C 11: 3,631,813 (GRCm39) probably benign Het
Mvd A G 8: 123,170,113 (GRCm39) probably benign Het
Myo7b C T 18: 32,131,654 (GRCm39) S514N probably damaging Het
Nav1 A T 1: 135,378,641 (GRCm39) I1610K probably damaging Het
Nbas T C 12: 13,584,473 (GRCm39) L2095P probably damaging Het
Nrros T C 16: 31,963,588 (GRCm39) N115S probably damaging Het
Or5p52 T C 7: 107,502,577 (GRCm39) Y218H probably damaging Het
Otud6b A C 4: 14,812,519 (GRCm39) I276R possibly damaging Het
P2rx6 G A 16: 17,385,356 (GRCm39) E150K probably damaging Het
Pan2 T A 10: 128,150,996 (GRCm39) L771Q probably benign Het
Pbrm1 T A 14: 30,806,976 (GRCm39) N1087K probably benign Het
Pcdhb5 G T 18: 37,453,713 (GRCm39) R31L probably benign Het
Proser3 A C 7: 30,242,993 (GRCm39) S195A probably damaging Het
Rad50 T C 11: 53,586,121 (GRCm39) K292E probably benign Het
Rbm27 G A 18: 42,438,781 (GRCm39) R394H probably damaging Het
Samd9l A G 6: 3,375,314 (GRCm39) I649T probably damaging Het
Skint3 G A 4: 112,113,103 (GRCm39) probably benign Het
Slc4a4 T A 5: 89,304,285 (GRCm39) L576Q probably damaging Het
Snx2 A G 18: 53,349,463 (GRCm39) D408G probably damaging Het
Taar2 T C 10: 23,817,069 (GRCm39) V203A probably benign Het
Tdrd6 C T 17: 43,936,459 (GRCm39) V1530M probably damaging Het
Tsc2 A C 17: 24,838,444 (GRCm39) L515R probably damaging Het
Unc13a A T 8: 72,108,353 (GRCm39) M500K probably damaging Het
Vmn1r75 A G 7: 11,614,496 (GRCm39) D76G probably benign Het
Whrn T C 4: 63,336,855 (GRCm39) D127G probably damaging Het
Other mutations in Bcl2l10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03134:Bcl2l10 UTSW 9 75,255,480 (GRCm39) missense probably damaging 1.00
R5065:Bcl2l10 UTSW 9 75,255,261 (GRCm39) missense possibly damaging 0.94
R6274:Bcl2l10 UTSW 9 75,258,354 (GRCm39) missense possibly damaging 0.84
R7026:Bcl2l10 UTSW 9 75,258,364 (GRCm39) missense probably benign 0.03
R8292:Bcl2l10 UTSW 9 75,255,160 (GRCm39) unclassified probably benign
R9193:Bcl2l10 UTSW 9 75,255,333 (GRCm39) missense probably benign 0.18
Posted On 2016-08-02