|Institutional Source||Beutler Lab|
|Gene Name||serine (or cysteine) peptidase inhibitor, clade B, member 1a|
|Synonyms||MNEI, LEI, 1190005M04Rik, EIA, ovalbumin, M/NEI, ELANH2|
|Is this an essential gene?||Probably non essential (E-score: 0.166)|
|Stock #||R7994 (G1)|
|Chromosomal Location||32842092-32851185 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 32843050 bp|
|Amino Acid Change||Aspartic acid to Valine at position 303 (D303V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000075690 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000076352] [ENSMUST00000091668]|
|Predicted Effect||probably damaging
AA Change: D303V
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D303V
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.9191|
|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'- TGAACGGATGGTCCACTGTG -3'
(R):5'- AGGGTTTGGCACATAGTAATTACC -3'
(F):5'- AACGGATGGTCCACTGTGAATTC -3'
(R):5'- ACACACCTGCTTTATATTAATTCCAG -3'