|Institutional Source||Beutler Lab|
|Gene Name||TBC1 domain family, member 10c|
|Is this an essential gene?||Probably non essential (E-score: 0.135)|
|Stock #||R5694 (G1)|
|Chromosomal Location||4184358-4191047 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 4184964 bp|
|Amino Acid Change||Leucine to Histidine at position 366 (L366H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000042660 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045864]|
|Predicted Effect||probably damaging
AA Change: L366H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L366H
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has an N-terminal Rab-GTPase domain and a binding site at the C-terminus for calcineurin, and is an inhibitor of both the Ras signaling pathway and calcineurin, a phosphatase regulated by calcium and calmodulin. Genes encoding similar proteins are located on chromosomes 16 and 22. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit spontaneous T cell activation and increased B cell response to ovalbumin, NP-LPS and Borrelia burgdorferi infection, and increased autoimmune response to CpG-DNA. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tbc1d10c||
(F):5'- GCACTTAGAATCGGGTGTCCAG -3'
(R):5'- AAGGCTTCCTACTTCCTGACAC -3'
(F):5'- CTTAGAATCGGGTGTCCAGGAAAG -3'
(R):5'- CCCCAGTCCAGGCAAAGTTAG -3'