Incidental Mutation 'IGL01632:Klk1b27'
ID93510
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klk1b27
Ensembl Gene ENSMUSG00000063177
Gene Namekallikrein 1-related peptidase b27
SynonymsmGK-27, Klk27, Klk21l
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.054) question?
Stock #IGL01632
Quality Score
Status
Chromosome7
Chromosomal Location44052290-44056712 bp(+) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) C to T at 44056673 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000078786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079859]
Predicted Effect probably benign
Transcript: ENSMUST00000079859
SMART Domains Protein: ENSMUSP00000078786
Gene: ENSMUSG00000063177

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 24 255 1.87e-97 SMART
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra2 G A 8: 27,118,733 A540T possibly damaging Het
Alms1 T A 6: 85,627,946 C1724S probably benign Het
Anapc10 T C 8: 79,713,166 M1T probably null Het
Antxrl A G 14: 34,067,947 N332S probably damaging Het
Ccdc105 T C 10: 78,748,702 S329G probably benign Het
Cdkl3 A G 11: 52,005,072 R49G probably damaging Het
Chodl A G 16: 78,944,564 probably benign Het
Clca1 G T 3: 145,027,441 A102D probably damaging Het
Clip1 T C 5: 123,617,496 E1029G probably damaging Het
Cpeb2 T A 5: 43,237,422 I581N probably benign Het
Dmxl1 T C 18: 49,863,025 V406A probably damaging Het
Dnah17 C T 11: 118,033,881 R3960Q probably damaging Het
Fstl5 A G 3: 76,707,828 D732G probably benign Het
Fyb2 G T 4: 104,995,811 V499L probably benign Het
Gm43191 A T 3: 116,651,467 H39Q probably damaging Het
Hspg2 A G 4: 137,514,773 K606R probably damaging Het
Mdga2 T C 12: 66,629,898 probably benign Het
Mup14 A T 4: 61,303,384 F56L probably benign Het
Myh15 A G 16: 49,061,511 K39E probably benign Het
Olfr1024 A G 2: 85,904,370 I228T probably benign Het
Olfr338 A T 2: 36,377,564 N263Y probably benign Het
Ppp1r3a T A 6: 14,754,811 I146F probably damaging Het
Ryr2 A G 13: 11,594,968 I759T probably damaging Het
Sfmbt1 T C 14: 30,817,712 I819T probably damaging Het
Siglec1 A G 2: 131,083,820 V322A probably benign Het
Spata3 T C 1: 86,022,308 V87A possibly damaging Het
Tacstd2 A G 6: 67,534,799 V303A possibly damaging Het
Taok3 T A 5: 117,265,928 F723I possibly damaging Het
Vmn1r210 A T 13: 22,827,196 *307R probably null Het
Vmn2r70 T C 7: 85,566,072 I85V probably benign Het
Zfp384 T C 6: 125,024,761 I123T probably damaging Het
Other mutations in Klk1b27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00333:Klk1b27 APN 7 44056143 critical splice donor site probably null
IGL01328:Klk1b27 APN 7 44055879 missense probably damaging 1.00
IGL01552:Klk1b27 APN 7 44054615 missense probably damaging 1.00
R0574:Klk1b27 UTSW 7 44056101 missense probably damaging 1.00
R4723:Klk1b27 UTSW 7 44056532 missense probably damaging 1.00
R5800:Klk1b27 UTSW 7 44055664 missense probably benign 0.21
R6002:Klk1b27 UTSW 7 44055690 missense probably benign
R6244:Klk1b27 UTSW 7 44054550 missense probably benign 0.05
R6513:Klk1b27 UTSW 7 44055745 missense probably benign 0.00
R6584:Klk1b27 UTSW 7 44054511 missense possibly damaging 0.84
R6633:Klk1b27 UTSW 7 44055810 missense probably damaging 0.98
R7074:Klk1b27 UTSW 7 44056553 missense probably damaging 1.00
R7495:Klk1b27 UTSW 7 44056076 missense probably benign
R7830:Klk1b27 UTSW 7 44055726 missense probably benign 0.00
R8002:Klk1b27 UTSW 7 44056021 missense probably benign 0.01
X0024:Klk1b27 UTSW 7 44056593 missense probably benign 0.08
Posted On2013-12-09