Incidental Mutation 'IGL01771:Klk1b8'
ID153836
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klk1b8
Ensembl Gene ENSMUSG00000063089
Gene Namekallikrein 1-related peptidase b8
SynonymsmGK-8, Klk8, TADG14
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL01771
Quality Score
Status
Chromosome7
Chromosomal Location43950664-43954941 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 43954866 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 253 (I253L)
Ref Sequence ENSEMBL: ENSMUSP00000072063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072204]
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

DomainStartEndE-ValueType
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: 92,940,365 W185R probably damaging Het
Frmd8 A G 19: 5,869,575 L148P probably damaging Het
Gk5 T C 9: 96,177,435 C447R probably damaging Het
Hip1r T A 5: 123,999,543 V704D possibly damaging Het
Kcnj10 C A 1: 172,369,583 H221Q probably benign Het
Olfr1090 C T 2: 86,754,282 C152Y probably benign Het
Olfr204 T C 16: 59,314,528 N293S probably damaging Het
Olfr389 A T 11: 73,776,664 I221N probably damaging Het
Olfr431-ps1 T C 1: 174,051,321 probably benign Het
Olfr51 A G 11: 51,007,766 T265A probably benign Het
Pdp2 A T 8: 104,594,122 Y201F probably benign Het
Ppfia1 A T 7: 144,482,357 I1112K probably benign Het
Ppwd1 A G 13: 104,217,116 I378T probably damaging Het
Rhbdd1 T A 1: 82,377,592 D248E probably benign Het
Sec14l5 T C 16: 5,178,630 probably null Het
Sel1l3 T G 5: 53,121,841 D960A probably damaging Het
Slc35f3 T C 8: 126,389,212 Y293H probably benign Het
Wwc1 A G 11: 35,853,358 probably null Het
Zan T C 5: 137,393,068 N4718S unknown Het
Zfyve16 T C 13: 92,522,172 I410M probably benign Het
Other mutations in Klk1b8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00820:Klk1b8 APN 7 43954786 missense probably benign 0.40
IGL01076:Klk1b8 APN 7 43954855 missense probably damaging 1.00
IGL01685:Klk1b8 APN 7 43954870 missense possibly damaging 0.88
IGL02272:Klk1b8 APN 7 43952793 missense probably damaging 1.00
IGL02596:Klk1b8 APN 7 43952763 missense probably damaging 1.00
R0789:Klk1b8 UTSW 7 43945727 unclassified probably benign
R1005:Klk1b8 UTSW 7 43954334 nonsense probably null
R1628:Klk1b8 UTSW 7 43954141 splice site probably null
R1688:Klk1b8 UTSW 7 43945805 unclassified probably benign
R1954:Klk1b8 UTSW 7 43953848 splice site probably benign
R4344:Klk1b8 UTSW 7 43945762 unclassified probably benign
R6294:Klk1b8 UTSW 7 43952772 missense probably damaging 1.00
R6941:Klk1b8 UTSW 7 43952789 missense possibly damaging 0.83
Posted On2014-02-04