Incidental Mutation 'IGL01771:Klk1b8'
ID 153836
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klk1b8
Ensembl Gene ENSMUSG00000063089
Gene Name kallikrein 1-related peptidase b8
Synonyms mGK-8, Klk8, TADG14
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # IGL01771
Quality Score
Chromosome 7
Chromosomal Location 43600088-43604365 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43604290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 253 (I253L)
Ref Sequence ENSEMBL: ENSMUSP00000072063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072204]
AlphaFold P07628
Predicted Effect probably damaging
Transcript: ENSMUST00000072204
AA Change: I253L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000072063
Gene: ENSMUSG00000063089
AA Change: I253L

signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 24 253 1.03e-85 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206099
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206172
Coding Region Coverage
Validation Efficiency
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Capn10 T A 1: 92,868,087 (GRCm39) W185R probably damaging Het
Frmd8 A G 19: 5,919,603 (GRCm39) L148P probably damaging Het
Gk5 T C 9: 96,059,488 (GRCm39) C447R probably damaging Het
Hip1r T A 5: 124,137,606 (GRCm39) V704D possibly damaging Het
Kcnj10 C A 1: 172,197,150 (GRCm39) H221Q probably benign Het
Or10aa4-ps1 T C 1: 173,878,887 (GRCm39) probably benign Het
Or1ad8 A G 11: 50,898,593 (GRCm39) T265A probably benign Het
Or1e29 A T 11: 73,667,490 (GRCm39) I221N probably damaging Het
Or5ac22 T C 16: 59,134,891 (GRCm39) N293S probably damaging Het
Or8k40 C T 2: 86,584,626 (GRCm39) C152Y probably benign Het
Pdp2 A T 8: 105,320,754 (GRCm39) Y201F probably benign Het
Ppfia1 A T 7: 144,036,094 (GRCm39) I1112K probably benign Het
Ppwd1 A G 13: 104,353,624 (GRCm39) I378T probably damaging Het
Rhbdd1 T A 1: 82,355,313 (GRCm39) D248E probably benign Het
Sec14l5 T C 16: 4,996,494 (GRCm39) probably null Het
Sel1l3 T G 5: 53,279,183 (GRCm39) D960A probably damaging Het
Slc35f3 T C 8: 127,115,951 (GRCm39) Y293H probably benign Het
Wwc1 A G 11: 35,744,185 (GRCm39) probably null Het
Zan T C 5: 137,391,330 (GRCm39) N4718S unknown Het
Zfyve16 T C 13: 92,658,680 (GRCm39) I410M probably benign Het
Other mutations in Klk1b8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00820:Klk1b8 APN 7 43,604,210 (GRCm39) missense probably benign 0.40
IGL01076:Klk1b8 APN 7 43,604,279 (GRCm39) missense probably damaging 1.00
IGL01486:Klk1b8 APN 7 43,453,113 (GRCm39) missense probably benign 0.14
IGL01685:Klk1b8 APN 7 43,604,294 (GRCm39) missense possibly damaging 0.88
IGL02272:Klk1b8 APN 7 43,602,217 (GRCm39) missense probably damaging 1.00
IGL02596:Klk1b8 APN 7 43,602,187 (GRCm39) missense probably damaging 1.00
R0783:Klk1b8 UTSW 7 43,451,621 (GRCm39) missense probably damaging 1.00
R0789:Klk1b8 UTSW 7 43,595,151 (GRCm39) unclassified probably benign
R1005:Klk1b8 UTSW 7 43,603,758 (GRCm39) nonsense probably null
R1628:Klk1b8 UTSW 7 43,603,565 (GRCm39) splice site probably null
R1688:Klk1b8 UTSW 7 43,595,229 (GRCm39) unclassified probably benign
R1733:Klk1b8 UTSW 7 43,451,545 (GRCm39) missense possibly damaging 0.94
R1954:Klk1b8 UTSW 7 43,603,272 (GRCm39) splice site probably benign
R2020:Klk1b8 UTSW 7 43,448,640 (GRCm39) missense probably benign
R4036:Klk1b8 UTSW 7 43,447,511 (GRCm39) missense probably null 0.00
R4344:Klk1b8 UTSW 7 43,595,186 (GRCm39) unclassified probably benign
R5648:Klk1b8 UTSW 7 43,448,068 (GRCm39) missense possibly damaging 0.95
R6237:Klk1b8 UTSW 7 43,448,094 (GRCm39) nonsense probably null
R6294:Klk1b8 UTSW 7 43,602,196 (GRCm39) missense probably damaging 1.00
R6941:Klk1b8 UTSW 7 43,602,213 (GRCm39) missense possibly damaging 0.83
R7609:Klk1b8 UTSW 7 43,451,603 (GRCm39) missense probably damaging 1.00
R7871:Klk1b8 UTSW 7 43,448,750 (GRCm39) splice site probably null
R8925:Klk1b8 UTSW 7 43,604,206 (GRCm39) missense probably damaging 1.00
R8927:Klk1b8 UTSW 7 43,604,206 (GRCm39) missense probably damaging 1.00
R9184:Klk1b8 UTSW 7 43,602,158 (GRCm39) missense probably benign 0.03
R9401:Klk1b8 UTSW 7 43,603,674 (GRCm39) missense probably benign 0.01
R9456:Klk1b8 UTSW 7 43,453,177 (GRCm39) missense probably benign 0.00
R9505:Klk1b8 UTSW 7 43,451,605 (GRCm39) missense probably damaging 1.00
Z1176:Klk1b8 UTSW 7 43,453,149 (GRCm39) missense possibly damaging 0.75
Posted On 2014-02-04