|Institutional Source||Beutler Lab|
|Gene Name||trypsin 10|
|Is this an essential gene?||Probably non essential (E-score: 0.076)|
|Stock #||R6103 (G1)|
|Chromosomal Location||41354105-41357914 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 41356550 bp|
|Amino Acid Change||Histidine to Glutamine at position 76 (H76Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000071976 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000072103]|
|Predicted Effect||probably damaging
AA Change: H76Q
PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: H76Q
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||100% (55/55)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is secreted by the pancreas and cleaved to its active form in the small intestine. It is active on peptide linkages involving the carboxyl group of lysine or arginine. Mutations in this gene are associated with hereditary pancreatitis. This gene and several other trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Try10||
(F):5'- CCCCACCTTTTGAAGCAGAG -3'
(R):5'- TTCTGGAAAGTTGTAAAGGAAGCC -3'
(F):5'- CACCTTTTGAAGCAGAGAGTAATTGG -3'
(R):5'- AGAGCTCAAGGTGTTGCC -3'