|Institutional Source||Beutler Lab|
|Gene Name||serine (or cysteine) peptidase inhibitor, clade B, member 1a|
|Synonyms||MNEI, LEI, 1190005M04Rik, EIA, ovalbumin, M/NEI, ELANH2|
|Essential gene?||Probably non essential (E-score: 0.215)|
|Stock #||R6274 (G1)|
|Chromosomal Location||32842092-32851185 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 32842866 bp (GRCm38)|
|Amino Acid Change||Histidine to Glutamine at position 364 (H364Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000075690 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000076352] [ENSMUST00000091668]|
AA Change: H364Q
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: H364Q
|Coding Region Coverage||
|Validation Efficiency||100% (56/56)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the serpin family of proteinase inhibitors. Members of this family maintain homeostasis by neutralizing overexpressed proteinase activity through their function as suicide substrates. This protein inhibits the neutrophil-derived proteinases neutrophil elastase, cathepsin G, and proteinase-3 and thus protects tissues from damage at inflammatory sites. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
PHENOTYPE: Homozygous null mice fail to clear P. aeruginosa lung infection and show increased mortality associated with late-onset failed bacterial clearance, partly due to elevated neutrophil necrosis, release of neutrophil protease activity, higher cytokine production and proteolysis of surfactant protein-D. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Serpinb1a||
(F):5'- ACCCATGCCAAAAGTCATGG -3'
(R):5'- TCTCTGGCATGTCAGGATCC -3'
(F):5'- CCATGCCAAAAGTCATGGATATAAAG -3'
(R):5'- GCATGTCAGGATCCAGAGATCTTTTC -3'