|Institutional Source||Beutler Lab|
|Gene Name||B cell leukemia/lymphoma 10|
|Synonyms||mE10, cE10, BCL-10|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7853 (G1)|
|Chromosomal Location||145922804-145934356 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 145924511 bp|
|Amino Acid Change||Lysine to Arginine at position 18 (K18R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029842 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029842]|
|Predicted Effect||possibly damaging
AA Change: K18R
PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: K18R
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by its translocation in a case of mucosa-associated lymphoid tissue (MALT) lymphoma. The protein encoded by this gene contains a caspase recruitment domain (CARD), and has been shown to induce apoptosis and to activate NF-kappaB. This protein is reported to interact with other CARD domain containing proteins including CARD9, 10, 11 and 14, which are thought to function as upstream regulators in NF-kappaB signaling. This protein is found to form a complex with MALT1, a protein encoded by another gene known to be translocated in MALT lymphoma. MALT1 and this protein are thought to synergize in the activation of NF-kappaB, and the deregulation of either of them may contribute to the same pathogenetic process that leads to the malignancy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: About one-third of homozygous null embryos die exhibiting exencephaly. Surviving mutants display immunological defects including severe immunodeficiency, abnormal B cell development and function, and impaired humoral response to bacterial infection. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bcl10||
(F):5'- GTACTGATTGGCTGGCACGTAG -3'
(R):5'- TGGCAAGGAAACATCCAAGC -3'
(F):5'- ACCTCCTCGTCCGTGAG -3'
(R):5'- ACAGGCTTAACCGCGGACTC -3'