|Institutional Source||Beutler Lab|
|Gene Name||serine (or cysteine) peptidase inhibitor, clade I, member 1|
|Synonyms||Neuroserpin, Spi17, Ns, PI12|
|Is this an essential gene?||Probably non essential (E-score: 0.081)|
|Stock #||R3418 (G1)|
|Chromosomal Location||75557547-75643495 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 75640282 bp|
|Amino Acid Change||Tyrosine to Cysteine at position 367 (Y367C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029423 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029423]|
|PDB Structure||Crystal Structure of Mouse Neuroserpin (Cleaved form) [X-RAY DIFFRACTION]|
|Predicted Effect||probably damaging
AA Change: Y367C
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: Y367C
|Meta Mutation Damage Score||0.1722|
|Coding Region Coverage||
|Validation Efficiency||98% (61/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serpin superfamily of serine proteinase inhibitors. The protein is primarily secreted by axons in the brain, and preferentially reacts with and inhibits tissue-type plasminogen activator. It is thought to play a role in the regulation of axonal growth and the development of synaptic plasticity. Mutations in this gene result in familial encephalopathy with neuroserpin inclusion bodies (FENIB), which is a dominantly inherited form of familial encephalopathy and epilepsy characterized by the accumulation of mutant neuroserpin polymers. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene show no change in brain morphology or histology. However, they show an increase avoidance of novel stimuli and increased anxiety responses in some situations. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Serpini1||
(F):5'- AGACATTTCTTCCTTAAAACCCCTG -3'
(R):5'- TGAGACCTATATTTCCTGGAAGCAATG -3'
(F):5'- CTTAAAACCCCTGCTTTCTGC -3'
(R):5'- TTCCTGGAAGCAATGTTTGGAAAAG -3'