|Institutional Source||Beutler Lab|
|Gene Name||toll-like receptor adaptor molecule 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1981 (G1)|
|Chromosomal Location||56269319-56276786 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 56271555 bp|
|Amino Acid Change||Arginine to Histidine at position 180 (R180H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000055104 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000058136]|
|Predicted Effect||probably damaging
AA Change: R180H
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: R180H
|Meta Mutation Damage Score||0.102|
|Coding Region Coverage||
|Validation Efficiency||99% (80/81)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adaptor protein containing a Toll/interleukin-1 receptor (TIR) homology domain, which is an intracellular signaling domain that mediates protein-protein interactions between the Toll-like receptors (TLRs) and signal-transduction components. This protein is involved in native immunity against invading pathogens. It specifically interacts with toll-like receptor 3, but not with other TLRs, and this association mediates dsRNA induction of interferon-beta through activation of nuclear factor kappa-B, during an antiviral immune response. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous null mice are viable but exhibit abnormalities of the innate immune system. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ticam1||
(F):5'- ATCTCCTCAGGTTCTTGGCAG -3'
(R):5'- TCCACAAGGGACATGGCTTAC -3'
(F):5'- CAGGTTCTTGGCAGCCTTCAG -3'
(R):5'- TTACCAGGTGGCCCTTCGTG -3'