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|Institutional Source||Beutler Lab|
|Gene Name||kallikrein 1-related peptidase b9|
|Synonyms||Klk9, Egfbp3, mGk-9, Egfbp-3|
|Is this an essential gene?||Probably non essential (E-score: 0.059)|
|Stock #||R7726 (G1)|
|Chromosomal Location||43976061-43980376 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 43978416 bp|
|Amino Acid Change||Asparagine to Isoleucine at position 46 (N46I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000080133 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000081399]|
|Predicted Effect||possibly damaging
AA Change: N46I
PolyPhen 2 Score 0.470 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: N46I
|Coding Region Coverage||
|Validation Efficiency||100% (65/65)|
|MGI Phenotype||FUNCTION: This gene encodes a member of the kallikrein subfamily of serine proteases that are involved in diverse physiological functions such as skin desquamation, tooth enamel formation, seminal liquefaction, synaptic neural plasticity and brain function. The encoded preproprotein undergoes proteolytic cleavage of the activation peptide to generate the functional enzyme. This gene is located in a cluster of several related kallikrein genes on chromosome 7. [provided by RefSeq, Feb 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Klk1b9||
(F):5'- TGACAATGTCCCCTGAACCC -3'
(R):5'- TACTCTGAACCCAAGACTGGATG -3'
(F):5'- TGAACCCCATCCTGCTTAAC -3'
(R):5'- TCACAGATAAACTTTCATCCAGTCC -3'