|Institutional Source||Beutler Lab|
|Gene Name||kallikrein 1-related peptidase b1|
|Synonyms||mGK-1, tissue kallikrein, TK, Klk1, mK1|
|Is this an essential gene?||Probably non essential (E-score: 0.058)|
|Stock #||R8320 (G1)|
|Chromosomal Location||43966751-43971318 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 43970343 bp|
|Amino Acid Change||Arginine to Cysteine at position 109 (R109C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000077879 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000078835]|
|Predicted Effect||possibly damaging
AA Change: R109C
PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: R109C
|Coding Region Coverage||
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]
PHENOTYPE: Homozygous null mice display decreased left ventricular contractility, cardiac output, and stroke volume, a thin left ventricular wall, and impaired vasodilation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Klk1b1||
(F):5'- TACAGACCTGTCCTAGCTGC -3'
(R):5'- TGCTTGGACCAGACTCACAC -3'
(F):5'- TGAGCAGCTCTCAGGTCTG -3'
(R):5'- CACTTGACAGGTATAATGCTGCC -3'