Incidental Mutation 'IGL01501:Klk1b11'
ID88929
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klk1b11
Ensembl Gene ENSMUSG00000044485
Gene Namekallikrein 1-related peptidase b11
SynonymsKlk11, mGK-11
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL01501
Quality Score
Status
Chromosome7
Chromosomal Location43995877-43999875 bp(+) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) A to T at 43999834 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000007156 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007156]
Predicted Effect probably benign
Transcript: ENSMUST00000007156
SMART Domains Protein: ENSMUSP00000007156
Gene: ENSMUSG00000044485

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 24 253 6.47e-101 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205597
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206650
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 T A 8: 24,914,353 N212I probably damaging Het
Adgre4 T G 17: 55,802,002 probably benign Het
Amer3 G A 1: 34,588,317 V546M probably benign Het
Arfgef3 A G 10: 18,600,560 S1504P possibly damaging Het
D630003M21Rik G A 2: 158,201,067 A851V probably benign Het
Ddhd2 A T 8: 25,735,830 M500K probably damaging Het
Fig4 A G 10: 41,270,374 S191P probably benign Het
Gabrg3 T C 7: 56,724,466 T451A probably damaging Het
Gzme T A 14: 56,119,401 M35L probably damaging Het
Il6st A G 13: 112,480,059 I47V probably benign Het
Lztr1 G A 16: 17,522,391 probably null Het
Olfr1307 A G 2: 111,944,518 *313Q probably null Het
Olfr152 T A 2: 87,783,136 W199R possibly damaging Het
Ptprz1 A T 6: 22,973,082 N283I probably damaging Het
Slc25a33 T C 4: 149,756,158 probably benign Het
Snap91 T C 9: 86,838,125 M120V probably damaging Het
Tbc1d8 G A 1: 39,389,335 R510C probably damaging Het
Thoc1 T C 18: 9,986,321 L351P possibly damaging Het
Tmco5b A G 2: 113,291,381 K180R probably null Het
Zfp553 G T 7: 127,236,215 S314I probably damaging Het
Zgrf1 G A 3: 127,602,562 probably null Het
Other mutations in Klk1b11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00565:Klk1b11 APN 7 43999819 missense probably damaging 1.00
IGL02054:Klk1b11 APN 7 43998827 missense possibly damaging 0.90
IGL02267:Klk1b11 APN 7 43999741 missense probably damaging 1.00
R0125:Klk1b11 UTSW 7 43999051 missense probably benign 0.10
R0449:Klk1b11 UTSW 7 43997792 missense probably damaging 1.00
R0708:Klk1b11 UTSW 7 43997728 missense possibly damaging 0.59
R4361:Klk1b11 UTSW 7 43995954 splice site probably null
R4452:Klk1b11 UTSW 7 43995911 missense probably damaging 0.96
R5120:Klk1b11 UTSW 7 43999022 missense probably benign 0.29
R5214:Klk1b11 UTSW 7 43997842 missense probably benign 0.02
R5219:Klk1b11 UTSW 7 43999696 missense probably damaging 1.00
R6348:Klk1b11 UTSW 7 43997851 critical splice donor site probably null
R6803:Klk1b11 UTSW 7 43997837 missense probably damaging 1.00
R7065:Klk1b11 UTSW 7 43998962 missense probably benign 0.22
R7172:Klk1b11 UTSW 7 43999247 missense possibly damaging 0.92
Posted On2013-12-03