Incidental Mutation 'IGL02500:Klk1b24'
ID296022
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klk1b24
Ensembl Gene ENSMUSG00000063713
Gene Namekallikrein 1-related peptidase b24
SynonymsmGk-24, Klk24
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL02500
Quality Score
Status
Chromosome7
Chromosomal Location44188236-44192455 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 44188324 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000073392 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073713]
Predicted Effect probably benign
Transcript: ENSMUST00000073713
SMART Domains Protein: ENSMUSP00000073392
Gene: ENSMUSG00000063713

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 24 255 1.22e-96 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206937
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A T 14: 118,618,926 I409N possibly damaging Het
Aoc3 T A 11: 101,337,389 L674* probably null Het
Arhgef10 G A 8: 14,961,238 E265K probably damaging Het
Cd53 A G 3: 106,768,826 I75T probably damaging Het
Col26a1 A T 5: 136,754,339 L235* probably null Het
Crem G T 18: 3,273,477 Q60K probably damaging Het
Cyp2j8 T C 4: 96,470,650 D344G probably damaging Het
Cyr61 T C 3: 145,648,700 K152R probably damaging Het
Dchs1 T C 7: 105,755,806 T2510A probably benign Het
Dnajc4 T C 19: 6,988,088 Q215R possibly damaging Het
Espl1 A G 15: 102,315,800 H1262R probably benign Het
Exoc2 G T 13: 30,911,196 T239K probably damaging Het
Fzd6 A T 15: 39,031,386 S316C probably damaging Het
Htra1 A G 7: 130,984,974 K429R probably benign Het
Il1rapl2 C T X: 138,846,503 T647I possibly damaging Het
Kcnn3 T A 3: 89,661,112 probably benign Het
Kiz G A 2: 146,863,813 V98I probably benign Het
Lrrc30 T A 17: 67,631,862 N241I probably damaging Het
Map2k4 A G 11: 65,696,310 V288A probably damaging Het
Mefv T C 16: 3,713,577 H459R probably damaging Het
Mettl21a G T 1: 64,608,054 Q115K probably benign Het
Msra A G 14: 64,285,188 probably benign Het
Myh8 G A 11: 67,305,710 R1752H probably benign Het
Nrp1 T C 8: 128,425,799 F163S possibly damaging Het
Ntng1 T A 3: 110,135,330 Y60F probably damaging Het
Pax6 G T 2: 105,692,770 R317L probably benign Het
Pcdh17 A G 14: 84,533,469 E1129G probably benign Het
Phlpp2 C T 8: 109,913,618 H472Y probably benign Het
Pip5k1c C A 10: 81,317,321 probably null Het
Prkce A G 17: 86,168,914 N108D probably benign Het
Prkdc T G 16: 15,714,282 probably null Het
Ptprm T C 17: 66,920,048 Y702C probably damaging Het
Rbbp8nl T C 2: 180,279,329 T421A possibly damaging Het
Retnlg A T 16: 48,872,960 L33F probably benign Het
Slc16a7 T A 10: 125,230,933 Y279F probably damaging Het
Slc8a1 T C 17: 81,388,713 Y964C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Sspo C A 6: 48,478,379 C3047* probably null Het
Tmprss11b C T 5: 86,667,323 probably null Het
Txnrd1 T G 10: 82,879,217 W98G probably damaging Het
Ulk1 A T 5: 110,809,134 I66N probably damaging Het
Ush2a A G 1: 188,822,696 Y3557C probably damaging Het
Vmn2r57 T A 7: 41,428,226 H172L probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp592 T A 7: 81,041,726 C1218S probably benign Het
Other mutations in Klk1b24
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01994:Klk1b24 APN 7 44191633 missense probably damaging 0.96
IGL02394:Klk1b24 APN 7 44191870 missense possibly damaging 0.65
IGL03030:Klk1b24 APN 7 44191366 missense probably benign
R1458:Klk1b24 UTSW 7 44191466 missense possibly damaging 0.49
R1465:Klk1b24 UTSW 7 44191361 missense probably benign 0.24
R1465:Klk1b24 UTSW 7 44191361 missense probably benign 0.24
R1714:Klk1b24 UTSW 7 44191515 missense probably damaging 1.00
R1771:Klk1b24 UTSW 7 44188229 unclassified probably null
R1791:Klk1b24 UTSW 7 44190428 splice site probably null
R3690:Klk1b24 UTSW 7 44191819 missense probably benign
R4726:Klk1b24 UTSW 7 44190396 missense probably damaging 1.00
R5654:Klk1b24 UTSW 7 44191465 missense probably benign 0.00
R5883:Klk1b24 UTSW 7 44190363 missense probably benign 0.00
R6775:Klk1b24 UTSW 7 44191465 missense probably benign 0.05
R7083:Klk1b24 UTSW 7 44191801 missense probably damaging 1.00
R7484:Klk1b24 UTSW 7 44190264 critical splice acceptor site probably null
Posted On2015-04-16