|Institutional Source||Beutler Lab|
|Gene Name||kallikrein 1-related petidase b26|
|Synonyms||EGF-BP type B, Egfbp2, PRECE-2, Klk26, mGK-26|
|Is this an essential gene?||Probably non essential (E-score: 0.050)|
|Stock #||R6816 (G1)|
|Chromosomal Location||44012168-44016968 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 44016868 bp|
|Amino Acid Change||Asparagine to Serine at position 245 (N245S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000047488 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000048945]|
|Predicted Effect||probably benign
AA Change: N245S
PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
AA Change: N245S
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||96% (49/51)|
|MGI Phenotype||FUNCTION: This gene encodes a member of the kallikrein subfamily of the peptidase S1 family of serine proteases. The kallikrein genes are present in a large gene cluster on chromosome 7. The encoded preproprotein is proteolytically processed to generate a mature protein product. Expression of this gene in the submandibular gland is sexually dimorphic likely due to both transcriptional and post-transcriptional regulation. This gene is thought to be distinct from the Egfbp2 gene (Gene ID: 13647), with which it shares 98% identity (PMIDs: 1959648, 9685728), however, it is not clear if both genes are present in all strains of mice. [provided by RefSeq, Sep 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Klk1b26||
(F):5'- CCTGTATTAATCGCCTTGGGAATC -3'
(R):5'- CATGTACACCTGTCCCTAGC -3'
(F):5'- CAGTTCCAGGTGGTCTACTAGAATC -3'
(R):5'- ACTTTGGAAGTCCTGACCTTAG -3'