Incidental Mutation 'R4398:Klk1b16'
ID 325583
Institutional Source Beutler Lab
Gene Symbol Klk1b16
Ensembl Gene ENSMUSG00000038968
Gene Name kallikrein 1-related peptidase b16
Synonyms mGk-16, Klk16
MMRRC Submission 041130-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R4398 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 43786191-43791034 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43790851 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 218 (I218F)
Ref Sequence ENSEMBL: ENSMUSP00000005933 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005933]
AlphaFold P04071
Predicted Effect probably damaging
Transcript: ENSMUST00000005933
AA Change: I218F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000005933
Gene: ENSMUSG00000038968
AA Change: I218F

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 24 253 7.64e-80 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 96% (53/55)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 C A 15: 94,231,576 (GRCm39) R871L possibly damaging Het
Adcy5 G A 16: 35,089,363 (GRCm39) C520Y probably damaging Het
AI661453 G A 17: 47,779,042 (GRCm39) probably benign Het
Bptf T C 11: 107,001,670 (GRCm39) K481E probably damaging Het
Cnot10 T A 9: 114,460,949 (GRCm39) K74* probably null Het
Ctc1 C T 11: 68,913,697 (GRCm39) P200S probably damaging Het
Dact1 T C 12: 71,363,959 (GRCm39) Y210H probably damaging Het
Dbn1 T C 13: 55,623,194 (GRCm39) T430A probably benign Het
Dmd A C X: 82,765,624 (GRCm39) T657P probably benign Het
Efnb2 C T 8: 8,670,832 (GRCm39) R256H possibly damaging Het
Eif4a1 T C 11: 69,560,070 (GRCm39) I116M possibly damaging Het
F730035P03Rik A T 7: 99,429,475 (GRCm39) noncoding transcript Het
Fbn1 C T 2: 125,239,701 (GRCm39) V329I probably benign Het
Gpr20 G A 15: 73,568,125 (GRCm39) T88I probably benign Het
Herc1 T G 9: 66,386,735 (GRCm39) V3783G probably benign Het
Khdc1a A G 1: 21,420,617 (GRCm39) D79G possibly damaging Het
Malrd1 C T 2: 16,155,594 (GRCm39) T2001I unknown Het
Mia3 A G 1: 183,111,733 (GRCm39) S556P probably damaging Het
Myo3a T A 2: 22,467,854 (GRCm39) D369E probably benign Het
Nelfa T C 5: 34,058,623 (GRCm39) D279G possibly damaging Het
Ntrk3 A T 7: 77,900,517 (GRCm39) C607* probably null Het
Or13a20 T C 7: 140,232,741 (GRCm39) V283A possibly damaging Het
Pclo A T 5: 14,825,380 (GRCm39) Q1371L probably damaging Het
Pdzd2 A T 15: 12,376,061 (GRCm39) V1358E probably benign Het
Pgr T C 9: 8,903,750 (GRCm39) probably null Het
Prag1 A G 8: 36,570,809 (GRCm39) D464G probably damaging Het
Prickle4 A G 17: 48,001,456 (GRCm39) probably benign Het
Prim2 A G 1: 33,551,192 (GRCm39) Y309H probably damaging Het
Prkaa1 A G 15: 5,206,642 (GRCm39) Q464R possibly damaging Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rint1 T A 5: 23,999,445 (GRCm39) I78K possibly damaging Het
Rnf130 T A 11: 49,962,205 (GRCm39) F217Y probably benign Het
Smad7 T C 18: 75,527,234 (GRCm39) V360A probably damaging Het
Sp110 A C 1: 85,505,050 (GRCm39) F434C probably benign Het
Stag1 A G 9: 100,838,659 (GRCm39) probably benign Het
Tlr12 T A 4: 128,509,988 (GRCm39) D754V probably benign Het
Tmf1 G A 6: 97,155,857 (GRCm39) P43L probably damaging Het
Togaram1 A G 12: 65,027,630 (GRCm39) N873S probably benign Het
Tsn C T 1: 118,238,799 (GRCm39) probably benign Het
Ubn1 A G 16: 4,882,289 (GRCm39) K250R probably damaging Het
Vmn1r25 A T 6: 57,955,812 (GRCm39) V159D probably damaging Het
Vmn2r89 T C 14: 51,689,551 (GRCm39) L18P probably damaging Het
Vps8 T G 16: 21,323,216 (GRCm39) N689K probably damaging Het
Ythdc1 T A 5: 86,963,513 (GRCm39) D30E possibly damaging Het
Ythdc1 G T 5: 86,983,679 (GRCm39) probably benign Het
Zfp407 G A 18: 84,580,856 (GRCm39) Q86* probably null Het
Zfp521 C T 18: 13,979,601 (GRCm39) E271K probably benign 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
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
R6589:Klk1b16 UTSW 7 43,790,894 (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'- CCACAACCTCATGTTCCTGG -3'
(R):5'- ACGGAGAATGTCAGACCTTGAAC -3'

Sequencing Primer
(F):5'- CAACCTCATGTTCCTGGAAGAGATG -3'
(R):5'- GAATGTCAGACCTTGAACTCATTTGC -3'
Posted On 2015-07-06