|Institutional Source||Beutler Lab|
|Gene Name||unc-93 homolog B1 (C. elegans)|
|Synonyms||unc-93 homolog B, unc-93 related protein|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4964 (G1)|
|Chromosomal Location||3935186-3949340 bp(+) (GRCm38)|
|Type of Mutation||splice site (6 bp from exon)|
|DNA Base Change (assembly)||T to C at 3942023 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000128751 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000162708] [ENSMUST00000165711]|
|AlphaFold||no structure available at present|
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||98% (100/102)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is involved in innate and adaptive immune response by regulating toll-like receptor signaling. The encoded protein traffics nucleotide sensing toll-like receptors to the endolysosome from the endoplasmic reticulum. Deficiency of the encoded protein has been associated with herpes simplex encephalitis. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice with a transmembrane domain point mutation have no overt phenotype but fail to mount a normal cytokine response and exhibit increased susceptibility to mouse cytomegalovirus, Lysteria monocytogenes and Staphlococcus aureus. Antigen presentation by MHC class I and II is impaired. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Unc93b1||
(F):5'- AACCTTTTACTCTGCTGGGC -3'
(R):5'- GAGAACTTCCTCCTGAGCAC -3'
(F):5'- TTCCCCTGTGAAGCTGGCTAG -3'
(R):5'- TTCCTCCTGAGCACTGTGGAAG -3'