|Institutional Source||Beutler Lab|
|Gene Name||Bcl2-like 10|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7026 (G1)|
|Chromosomal Location||75347758-75351632 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 75351082 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 175 (F175L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034709 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034709]|
|Predicted Effect||probably benign
AA Change: F175L
PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
AA Change: F175L
|Coding Region Coverage||
|Validation Efficiency||99% (69/70)|
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||
|Other mutations in Bcl2l10||
(F):5'- CTGAGCTAGCCCTTTATGTGG -3'
(R):5'- CTCCATGTAGCATGCAGGTAGAAATG -3'
(F):5'- CAGACAGTGCTCTTAACTTCGGAG -3'
(R):5'- CATGCAGGTAGAAATGTCTCTAGGC -3'