|Institutional Source||Beutler Lab|
|Gene Name||serine peptidase inhibitor, Kazal type 1|
|Synonyms||Spink3, p12, prostatic secretory glycoprotein|
|Is this an essential gene?||Not available|
|Stock #||R2426 (G1)|
|Chromosomal Location||43728069-43737237 bp(-) (GRCm38)|
|Type of Mutation||nonsense|
|DNA Base Change (assembly)||G to T at 43735222 bp|
|Amino Acid Change||Serine to Stop codon at position 23 (S23*)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025381 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025381]|
|Predicted Effect||probably null
AA Change: S23*
AA Change: S23*
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a trypsin inhibitor, which is secreted from pancreatic acinar cells into pancreatic juice. It is thought to function in the prevention of trypsin-catalyzed premature activation of zymogens within the pancreas and the pancreatic duct. Mutations in this gene are associated with hereditary pancreatitis and tropical calcific pancreatitis. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene results in postnatal lethality, growth retardation, dehydration, autophagic degeneration of acinar cells resulting in pancreas trophy, small intestine degeneration, and a small spleen. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Spink1||
(F):5'- TACTGGATCAAACAGTTTCAGTCTG -3'
(R):5'- TTTCAAAATCTTAGCAGGCAGAGAG -3'
(F):5'- GGTGTGTGCCTTTAATCCCAGC -3'
(R):5'- GTGAAGAAAACTCATCTGGTGTCC -3'