|Institutional Source||Beutler Lab|
|Gene Name||caspase recruitment domain family, member 6|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0943 (G1)|
|Chromosomal Location||5095981-5108539 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 5100286 bp|
|Amino Acid Change||Serine to Proline at position 543 (S543P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000112833 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000118365] [ENSMUST00000141020]|
|Predicted Effect||probably damaging
AA Change: S543P
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: S543P
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.6277|
|Coding Region Coverage||
|Validation Efficiency||97% (36/37)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a caspase recruitment domain (CARD), an antiparallel six-helical bundle that mediates homotypic protein-protein interactions. The encoded protein is a microtubule-associated protein that has been shown to interact with receptor-interacting protein kinases and positively modulate signal transduction pathways converging on activation of the inducible transcription factor NF-kB. [provided by RefSeq, Jul 2008]
PHENOTYPE: Knockout mice are viable and grossly normal with no deficits in thymocytes, granulocytes, macrophages, NK cells or T- and B-cell subsets. Various signaling pathways mediating innate and adaptive immune responses appear unaltered. Mice are normally resistant to infection by a wide range of pathogens. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Card6||
(F):5'- CGGCTTCCTCTACTTCCCAAAACAG -3'
(R):5'- TGCTCAGCTCCTCTCGACAGAAAC -3'
(F):5'- AACAGTAGCTGTGATGGCCTC -3'
(R):5'- GAAACCACACACGTTTTTCCTC -3'