Incidental Mutation 'IGL01488:Klk10'
ID88788
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klk10
Ensembl Gene ENSMUSG00000030693
Gene Namekallikrein related-peptidase 10
SynonymsNES1, PRSSL1, 2300002A13Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL01488
Quality Score
Status
Chromosome7
Chromosomal Location43781035-43785410 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 43784976 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 264 (I264N)
Ref Sequence ENSEMBL: ENSMUSP00000014058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014058]
Predicted Effect probably damaging
Transcript: ENSMUST00000014058
AA Change: I264N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000014058
Gene: ENSMUSG00000030693
AA Change: I264N

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Tryp_SPc 46 271 1.35e-71 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181454
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Its encoded protein is secreted and may play a role in suppression of tumorigenesis in breast and prostate cancers. Alternate splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc3 T C 11: 101,337,478 F424L possibly damaging Het
Cep170 A G 1: 176,756,375 S813P probably benign Het
Clca1 C T 3: 145,007,778 M697I probably benign Het
Dag1 C A 9: 108,208,303 E546D probably benign Het
Espl1 G A 15: 102,298,739 D213N probably benign Het
Fbxo47 A G 11: 97,868,678 probably benign Het
Gcnt7 A G 2: 172,454,289 V205A probably damaging Het
Il1b A G 2: 129,367,234 probably benign Het
Lemd3 A T 10: 120,933,399 C646* probably null Het
Mcm3 A T 1: 20,813,056 V313D possibly damaging Het
Mylk3 C T 8: 85,352,027 V413I probably damaging Het
Olfr59 T C 11: 74,288,688 L14P probably damaging Het
Olfr731 A T 14: 50,238,138 M249K possibly damaging Het
Rfx2 T A 17: 56,805,398 Q45L probably damaging Het
Selplg T A 5: 113,819,636 E203V possibly damaging Het
Slc12a6 A G 2: 112,353,064 probably null Het
Slc4a3 A G 1: 75,548,876 S207G probably benign Het
Trhde C T 10: 114,446,158 V805I possibly damaging Het
Vav3 A C 3: 109,657,944 I159L probably damaging Het
Other mutations in Klk10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01657:Klk10 APN 7 43781589 missense possibly damaging 0.49
IGL02049:Klk10 APN 7 43784458 splice site probably benign
IGL02725:Klk10 APN 7 43781620 missense probably damaging 1.00
IGL03382:Klk10 APN 7 43784459 splice site probably benign
R0433:Klk10 UTSW 7 43781565 missense possibly damaging 0.51
R1521:Klk10 UTSW 7 43782880 missense probably benign 0.00
R1580:Klk10 UTSW 7 43782862 missense probably damaging 1.00
R4825:Klk10 UTSW 7 43783598 missense probably damaging 1.00
R5969:Klk10 UTSW 7 43784985 missense probably damaging 1.00
R6437:Klk10 UTSW 7 43782817 missense probably benign 0.04
R6641:Klk10 UTSW 7 43784900 missense possibly damaging 0.94
R7589:Klk10 UTSW 7 43783627 missense probably benign 0.00
R7599:Klk10 UTSW 7 43784427 missense probably benign 0.03
R7902:Klk10 UTSW 7 43783518 missense probably benign 0.34
R7985:Klk10 UTSW 7 43783518 missense probably benign 0.34
Posted On2013-11-18