Incidental Mutation 'R6589:Klk1b16'
ID 524508
Institutional Source Beutler Lab
Gene Symbol Klk1b16
Ensembl Gene ENSMUSG00000038968
Gene Name kallikrein 1-related peptidase b16
Synonyms mGk-16, Klk16
MMRRC Submission 044713-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R6589 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 43786191-43791034 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43790894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 232 (D232G)
Ref Sequence ENSEMBL: ENSMUSP00000005933 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005933]
AlphaFold P04071
Predicted Effect probably benign
Transcript: ENSMUST00000005933
AA Change: D232G

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000005933
Gene: ENSMUSG00000038968
AA Change: D232G

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 24 253 7.64e-80 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.0%
Validation Efficiency 100% (26/26)
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
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd55 G A 13: 112,485,397 (GRCm39) probably null Het
Asic2 G T 11: 80,777,430 (GRCm39) A427D possibly damaging Het
B3gnt2 T A 11: 22,787,117 (GRCm39) I24F probably damaging Het
BC030500 T C 8: 59,365,956 (GRCm39) probably benign Het
Cdh4 G A 2: 179,523,789 (GRCm39) probably null Het
Cramp1 T C 17: 25,196,466 (GRCm39) probably null Het
Fam72a A T 1: 131,461,554 (GRCm39) I80F probably damaging Het
Fbxo43 T C 15: 36,162,686 (GRCm39) T174A probably damaging Het
Fgf11 C A 11: 69,690,261 (GRCm39) V109L probably damaging Het
Fggy A G 4: 95,485,875 (GRCm39) I74V probably benign Het
Fshr T C 17: 89,296,035 (GRCm39) D224G probably damaging Het
Gm6465 A G 5: 11,898,128 (GRCm39) T81A possibly damaging Het
Hdac9 T C 12: 34,265,028 (GRCm39) E908G probably damaging Het
Hspa4l T G 3: 40,711,487 (GRCm39) L121V probably damaging Het
Lpl G T 8: 69,349,459 (GRCm39) M328I probably benign Het
Mgat4a T C 1: 37,483,976 (GRCm39) E498G probably damaging Het
Mup11 T A 4: 60,615,540 (GRCm39) Q91L possibly damaging Het
Myoc T A 1: 162,476,188 (GRCm39) Y297* probably null Het
Or14j5 T A 17: 38,161,727 (GRCm39) Y81* probably null Het
Semp2l1 A T 1: 32,585,792 (GRCm39) D39E probably benign Het
Siva1 A G 12: 112,613,272 (GRCm39) E40G probably damaging Het
Smarca2 T A 19: 26,597,284 (GRCm39) H55Q possibly damaging Het
Taf1b A G 12: 24,606,527 (GRCm39) E449G possibly damaging Het
Tafa2 T A 10: 123,540,297 (GRCm39) V51E probably damaging Het
Tcaf3 A T 6: 42,570,995 (GRCm39) N252K possibly damaging Het
Trim3 A G 7: 105,267,167 (GRCm39) L404P probably damaging Het
Vmn2r114 T C 17: 23,510,642 (GRCm39) T613A probably damaging Het
Vmn2r-ps158 T A 7: 42,673,022 (GRCm39) S142T possibly damaging Het
Zfp358 T A 8: 3,545,907 (GRCm39) F163Y probably damaging Het
Other mutations in Klk1b16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01068:Klk1b16 APN 7 43,790,102 (GRCm39) missense probably damaging 0.98
IGL01529:Klk1b16 APN 7 43,790,163 (GRCm39) missense probably benign 0.18
R1105:Klk1b16 UTSW 7 43,788,937 (GRCm39) missense probably damaging 0.98
R1106:Klk1b16 UTSW 7 43,788,937 (GRCm39) missense probably damaging 0.98
R1559:Klk1b16 UTSW 7 43,790,425 (GRCm39) missense probably benign 0.00
R3883:Klk1b16 UTSW 7 43,788,887 (GRCm39) missense possibly damaging 0.86
R3884:Klk1b16 UTSW 7 43,788,887 (GRCm39) missense possibly damaging 0.86
R4152:Klk1b16 UTSW 7 43,789,973 (GRCm39) missense probably benign 0.09
R4398:Klk1b16 UTSW 7 43,790,851 (GRCm39) missense probably damaging 1.00
R5231:Klk1b16 UTSW 7 43,786,771 (GRCm39) missense probably damaging 1.00
R5389:Klk1b16 UTSW 7 43,790,412 (GRCm39) missense possibly damaging 0.83
R5470:Klk1b16 UTSW 7 43,786,755 (GRCm39) missense probably damaging 0.99
R5532:Klk1b16 UTSW 7 43,790,950 (GRCm39) missense probably benign 0.00
R5690:Klk1b16 UTSW 7 43,790,318 (GRCm39) critical splice acceptor site probably null
R5717:Klk1b16 UTSW 7 43,788,913 (GRCm39) missense probably benign 0.00
R5749:Klk1b16 UTSW 7 43,790,210 (GRCm39) missense probably benign 0.03
R7084:Klk1b16 UTSW 7 43,788,910 (GRCm39) missense probably benign 0.01
R7336:Klk1b16 UTSW 7 43,790,907 (GRCm39) missense probably benign 0.05
R8281:Klk1b16 UTSW 7 43,790,971 (GRCm39) missense probably benign
R8358:Klk1b16 UTSW 7 43,790,185 (GRCm39) missense probably damaging 1.00
R9002:Klk1b16 UTSW 7 43,790,189 (GRCm39) missense possibly damaging 0.88
R9010:Klk1b16 UTSW 7 43,790,177 (GRCm39) missense probably benign 0.40
R9013:Klk1b16 UTSW 7 43,790,332 (GRCm39) missense probably benign 0.03
X0026:Klk1b16 UTSW 7 43,790,368 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGATGGCCACCTAAGAGCTG -3'
(R):5'- TTGTATACCGCACTCCAGTAGG -3'

Sequencing Primer
(F):5'- GGATTCCCTCAGCTACTGAATAGAG -3'
(R):5'- CACTCCAGTAGGACGGAGAATGTC -3'
Posted On 2018-06-22