Incidental Mutation 'IGL02015:Klk1b21'
ID 183687
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klk1b21
Ensembl Gene ENSMUSG00000066516
Gene Name kallikrein 1-related peptidase b21
Synonyms mGk-21, Klk21
Accession Numbers
Essential gene? Probably non essential (E-score: 0.050) question?
Stock # IGL02015
Quality Score
Status
Chromosome 7
Chromosomal Location 43751752-43756007 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43753782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 22 (Q22L)
Ref Sequence ENSEMBL: ENSMUSP00000082582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085455]
AlphaFold Q61759
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: 44,420,098 (GRCm39) probably null Het
C1qtnf12 A G 4: 156,047,201 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
D430041D05Rik A G 2: 104,060,749 (GRCm39) Y1382H probably damaging Het
Fut1 A T 7: 45,268,399 (GRCm39) M118L probably damaging Het
Fzd5 A T 1: 64,775,501 (GRCm39) C87S probably damaging Het
Gmcl1 A G 6: 86,684,439 (GRCm39) V361A possibly damaging Het
Inpp4a T G 1: 37,428,793 (GRCm39) F700V probably damaging Het
Lrp2 T A 2: 69,357,922 (GRCm39) Q369L probably benign Het
Mtor C T 4: 148,624,570 (GRCm39) Q2117* probably null Het
Naip2 A T 13: 100,298,115 (GRCm39) S640R possibly damaging Het
Nt5e T C 9: 88,249,290 (GRCm39) I408T probably damaging Het
Or10ab5 T A 7: 108,245,220 (GRCm39) N188Y probably damaging Het
Or51h5 G A 7: 102,577,399 (GRCm39) R188H probably benign Het
Or8d2 T C 9: 38,760,090 (GRCm39) S227P probably damaging Het
Plxna1 A G 6: 89,319,433 (GRCm39) L590P probably damaging Het
Ppp1r35 T C 5: 137,778,293 (GRCm39) probably benign Het
Prmt2 G A 10: 76,062,089 (GRCm39) Q39* probably null Het
Ptprg A T 14: 12,237,782 (GRCm38) N1413I possibly damaging Het
Ranbp10 C A 8: 106,506,622 (GRCm39) G233C probably damaging Het
Rapgef2 A G 3: 78,999,371 (GRCm39) probably benign Het
Rilpl2 T C 5: 124,607,876 (GRCm39) T115A probably benign Het
Scaf4 T C 16: 90,055,734 (GRCm39) S108G unknown Het
Scn10a C T 9: 119,494,017 (GRCm39) V430M probably benign Het
Sf3b3 T C 8: 111,542,922 (GRCm39) E845G possibly damaging Het
Skint2 C T 4: 112,481,325 (GRCm39) R63* probably null Het
Slc35b4 A T 6: 34,147,483 (GRCm39) V35D probably damaging Het
Slc6a3 A T 13: 73,692,833 (GRCm39) Y151F possibly damaging Het
Susd1 G A 4: 59,315,745 (GRCm39) T689I possibly damaging Het
Tbx21 T C 11: 96,989,740 (GRCm39) D484G probably benign Het
Tln2 C T 9: 67,268,721 (GRCm39) probably benign Het
Traf3 A G 12: 111,219,174 (GRCm39) N242S probably benign Het
Tut7 A G 13: 59,937,072 (GRCm39) Y790H probably damaging Het
Xiap T A X: 41,185,487 (GRCm39) probably benign Het
Other mutations in Klk1b21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00731:Klk1b21 APN 7 43,755,347 (GRCm39) missense possibly damaging 0.81
IGL01710:Klk1b21 APN 7 43,755,919 (GRCm39) missense probably benign 0.13
R0138:Klk1b21 UTSW 7 43,755,319 (GRCm39) missense probably damaging 1.00
R0384:Klk1b21 UTSW 7 43,754,917 (GRCm39) missense probably benign 0.03
R1456:Klk1b21 UTSW 7 43,754,923 (GRCm39) missense probably benign 0.01
R2021:Klk1b21 UTSW 7 43,755,418 (GRCm39) nonsense probably null
R2119:Klk1b21 UTSW 7 43,755,193 (GRCm39) missense probably benign
R2265:Klk1b21 UTSW 7 43,753,863 (GRCm39) missense possibly damaging 0.51
R2267:Klk1b21 UTSW 7 43,753,863 (GRCm39) missense possibly damaging 0.51
R2269:Klk1b21 UTSW 7 43,753,863 (GRCm39) missense possibly damaging 0.51
R5499:Klk1b21 UTSW 7 43,755,100 (GRCm39) missense probably benign 0.07
R5623:Klk1b21 UTSW 7 43,754,989 (GRCm39) missense probably damaging 0.98
R8151:Klk1b21 UTSW 7 43,753,787 (GRCm39) nonsense probably null
R8754:Klk1b21 UTSW 7 43,755,912 (GRCm39) missense probably benign 0.09
R9139:Klk1b21 UTSW 7 43,754,924 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07