|Institutional Source||Beutler Lab|
|Gene Name||OTU deubiquitinase with linear linkage specificity|
|Synonyms||m3Sapc, m7-1Sapc, Fam105b, gumby|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R8319 (G1)|
|Chromosomal Location||27542635-27630693 bp(-) (GRCm38)|
|Type of Mutation||frame shift|
|DNA Base Change (assembly)||AT to ATT at 27606318 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000057893 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000059662]|
|Predicted Effect||probably null
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase C65 family of ubiquitin isopeptidases. Members of this family remove ubiquitin from proteins. The encoded enzyme specifically recognizes and removes M1(Met1)-linked, or linear, ubiquitin chains from protein substrates. Linear ubiquitin chains are known to regulate the NF-kappa B signaling pathway in the context of immunity and inflammation. Mutations in this gene cause a potentially fatal autoinflammatory syndrome in human patients. [provided by RefSeq, Sep 2016]
PHENOTYPE: Embryos homozygous for an ENU-induced mutation exhibit micrognathia, microcephaly, paucity of blood, and abnormal facial and vestibulocochlear nerve morphology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Otulin||
(F):5'- GTGAAGGCTTGGCTAATTAATTCTC -3'
(R):5'- TGGCTTCCCTCAGAACACTC -3'
(F):5'- GCTAGTCTTCAGAACATAATGGTCC -3'
(R):5'- GGCTTCCCTCAGAACACTCATTTG -3'