|Institutional Source||Beutler Lab|
|Gene Name||chymotrypsin-like elastase family, member 3B|
|Synonyms||2310074F01Rik, Ela3b, Ela3, 0910001F22Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.076)|
|Stock #||R0669 (G1)|
|Chromosomal Location||137420999-137430540 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 137428530 bp|
|Amino Acid Change||Histidine to Arginine at position 22 (H22R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099581 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102522]|
|Predicted Effect||probably benign
AA Change: H22R
PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
AA Change: H22R
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||99% (80/81)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, elastase 3B has little elastolytic activity. Like most of the human elastases, elastase 3B is secreted from the pancreas as a zymogen and, like other serine proteases such as trypsin, chymotrypsin and kallikrein, it has a digestive function in the intestine. Elastase 3B preferentially cleaves proteins after alanine residues. Elastase 3B may also function in the intestinal transport and metabolism of cholesterol. Both elastase 3A and elastase 3B have been referred to as protease E and as elastase 1, and excretion of this protein in fecal material is frequently used as a measure of pancreatic function in clinical assays. [provided by RefSeq, May 2009]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cela3b||
(F):5'- AATCCCAGCCGAGATTGCAGATG -3'
(R):5'- TGAGATAAAAGAGACCCTGCCCTCC -3'
(F):5'- TTGCAGATGGAACAGTTACAACC -3'
(R):5'- ctccccctcctcttcctc -3'