Incidental Mutation 'IGL02015:Klk1b21'
ID183687
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klk1b21
Ensembl Gene ENSMUSG00000066516
Gene Namekallikrein 1-related peptidase b21
SynonymsKlk21, mGk-21
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.051) question?
Stock #IGL02015
Quality Score
Status
Chromosome7
Chromosomal Location44102328-44106583 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 44104358 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 22 (Q22L)
Ref Sequence ENSEMBL: ENSMUSP00000082582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085455]
Predicted Effect probably benign
Transcript: ENSMUST00000085455
AA Change: Q22L

PolyPhen 2 Score 0.409 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000082582
Gene: ENSMUSG00000066516
AA Change: Q22L

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 24 253 9.09e-96 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205984
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206908
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl9l C A 9: 44,508,801 probably null Het
C1qtnf12 A G 4: 155,962,744 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
D430041D05Rik A G 2: 104,230,404 Y1382H probably damaging Het
Fut1 A T 7: 45,618,975 M118L probably damaging Het
Fzd5 A T 1: 64,736,342 C87S probably damaging Het
Gmcl1 A G 6: 86,707,457 V361A possibly damaging Het
Inpp4a T G 1: 37,389,712 F700V probably damaging Het
Lrp2 T A 2: 69,527,578 Q369L probably benign Het
Mtor C T 4: 148,540,113 Q2117* probably null Het
Naip2 A T 13: 100,161,607 S640R possibly damaging Het
Nt5e T C 9: 88,367,237 I408T probably damaging Het
Olfr509 T A 7: 108,646,013 N188Y probably damaging Het
Olfr572 G A 7: 102,928,192 R188H probably benign Het
Olfr924 T C 9: 38,848,794 S227P probably damaging Het
Plxna1 A G 6: 89,342,451 L590P probably damaging Het
Ppp1r35 T C 5: 137,780,031 probably benign Het
Prmt2 G A 10: 76,226,255 Q39* probably null Het
Ptprg A T 14: 12,237,782 N1413I possibly damaging Het
Ranbp10 C A 8: 105,779,990 G233C probably damaging Het
Rapgef2 A G 3: 79,092,064 probably benign Het
Rilpl2 T C 5: 124,469,813 T115A probably benign Het
Scaf4 T C 16: 90,258,846 S108G unknown Het
Scn10a C T 9: 119,664,951 V430M probably benign Het
Sf3b3 T C 8: 110,816,290 E845G possibly damaging Het
Skint2 C T 4: 112,624,128 R63* probably null Het
Slc35b4 A T 6: 34,170,548 V35D probably damaging Het
Slc6a3 A T 13: 73,544,714 Y151F possibly damaging Het
Susd1 G A 4: 59,315,745 T689I possibly damaging Het
Tbx21 T C 11: 97,098,914 D484G probably benign Het
Tln2 C T 9: 67,361,439 probably benign Het
Traf3 A G 12: 111,252,740 N242S probably benign Het
Xiap T A X: 42,096,610 probably benign Het
Zcchc6 A G 13: 59,789,258 Y790H probably damaging Het
Other mutations in Klk1b21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00731:Klk1b21 APN 7 44105923 missense possibly damaging 0.81
IGL01710:Klk1b21 APN 7 44106495 missense probably benign 0.13
R0138:Klk1b21 UTSW 7 44105895 missense probably damaging 1.00
R0384:Klk1b21 UTSW 7 44105493 missense probably benign 0.03
R1456:Klk1b21 UTSW 7 44105499 missense probably benign 0.01
R2021:Klk1b21 UTSW 7 44105994 nonsense probably null
R2119:Klk1b21 UTSW 7 44105769 missense probably benign
R2265:Klk1b21 UTSW 7 44104439 missense possibly damaging 0.51
R2267:Klk1b21 UTSW 7 44104439 missense possibly damaging 0.51
R2269:Klk1b21 UTSW 7 44104439 missense possibly damaging 0.51
R5499:Klk1b21 UTSW 7 44105676 missense probably benign 0.07
R5623:Klk1b21 UTSW 7 44105565 missense probably damaging 0.98
R8151:Klk1b21 UTSW 7 44104363 nonsense probably null
Posted On2014-05-07