Incidental Mutation 'IGL02596:Klk1b8'
ID299842
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: 0.055) question?
Stock #IGL02596
Quality Score
Status
Chromosome7
Chromosomal Location43950664-43954941 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 43952763 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 40 (V40M)
Ref Sequence ENSEMBL: ENSMUSP00000072063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072204]
Predicted Effect probably damaging
Transcript: ENSMUST00000072204
AA Change: V40M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000072063
Gene: ENSMUSG00000063089
AA Change: V40M

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 24 253 1.03e-85 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206172
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206764
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik T G 4: 73,950,667 Q11H possibly damaging Het
4931408C20Rik T A 1: 26,684,002 H699L probably benign Het
Armcx5 T A X: 135,746,519 I448K probably damaging Het
Atp4b T A 8: 13,393,471 Y69F possibly damaging Het
Ccdc7b T A 8: 129,072,478 V12E probably benign Het
Cdc5l C A 17: 45,424,604 probably benign Het
Clptm1l C T 13: 73,613,666 R330C probably benign Het
Cpq C T 15: 33,213,014 R60W probably damaging Het
Cpvl T C 6: 53,932,010 Y256C probably damaging Het
Cryzl2 A T 1: 157,464,969 D107V probably damaging Het
Cyp2e1 G A 7: 140,770,118 V239M probably damaging Het
Cyp2j7 T A 4: 96,215,422 D292V possibly damaging Het
Dcaf1 A G 9: 106,863,021 Y1202C probably damaging Het
Dnah3 T C 7: 119,938,914 N3616S probably benign Het
Enam A G 5: 88,503,026 D723G probably benign Het
Eps8l1 G A 7: 4,470,872 R226H probably damaging Het
Erich2 A G 2: 70,512,803 probably benign Het
Esyt3 A C 9: 99,328,015 L271V probably benign Het
Fer1l4 T C 2: 156,039,132 N838S probably benign Het
Gad1 T C 2: 70,594,684 Y441H probably damaging Het
Gja1 G T 10: 56,388,252 V236F possibly damaging Het
Gpr156 T C 16: 37,978,724 I100T probably benign Het
Hace1 A G 10: 45,700,640 T803A possibly damaging Het
Jagn1 G A 6: 113,447,601 V145I probably benign Het
Kdm4b C A 17: 56,399,706 T899K probably benign Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Mast1 G T 8: 84,917,771 A843E probably benign Het
Mbd1 T A 18: 74,276,797 probably benign Het
Mdga1 A G 17: 29,832,405 probably benign Het
Mlh3 A G 12: 85,240,958 probably null Het
Olfr1115 C A 2: 87,252,129 T64K probably damaging Het
Olfr1463 A T 19: 13,234,399 I50F probably damaging Het
Pwp1 A G 10: 85,872,018 probably null Het
Rbm12 C T 2: 156,095,560 probably benign Het
Slc12a7 T A 13: 73,785,123 V100E probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tgfb1i1 T A 7: 128,248,896 M1K probably null Het
Tubgcp6 T A 15: 89,100,914 E1657V probably damaging Het
Zfp770 A G 2: 114,195,827 V587A probably benign Het
Zxdc A G 6: 90,373,709 probably null 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
IGL01771:Klk1b8 APN 7 43954866 missense probably damaging 0.99
IGL02272:Klk1b8 APN 7 43952793 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
R8925:Klk1b8 UTSW 7 43954782 missense probably damaging 1.00
R8927:Klk1b8 UTSW 7 43954782 missense probably damaging 1.00
Posted On2015-04-16