|Institutional Source||Beutler Lab|
|Gene Name||transmembrane protein 173|
|Synonyms||2610307O08Rik, MPYS, Sting, ERIS|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2102 (G1)|
|Chromosomal Location||35733678-35740554 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 35735237 bp|
|Amino Acid Change||Methionine to Lysine at position 270 (M270K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000111393 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000097617] [ENSMUST00000115728]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: M270K
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: M270K
|Coding Region Coverage||
|MGI Phenotype||Strain: 3817418; 4939597
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a five transmembrane protein that functions as a major regulator of the innate immune response to viral and bacterial infections. The encoded protein is a pattern recognition receptor that detects cytosolic nucleic acids and transmits signals that activate type I interferon responses. The encoded protein has also been shown to play a role in apoptotic signaling by associating with type II major histocompatibility complex. Mutations in this gene are the cause of infantile-onset STING-associated vasculopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to viral infection and abnormal innate immunity. Mice homozygous for an ENU-induced allele exhibit altered response to bacterial and viral infection. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tmem173||
(F):5'- ACCTCTGTGAGATGCTGCTATTC -3'
(R):5'- CAGCCCAGGCCTAAAGTTAG -3'
(F):5'- GAGATGCTGCTATTCCTGATTCCTG -3'
(R):5'- GCATCAGAGGCCCTAGCAG -3'