Incidental Mutation 'IGL00731:Klk1b21'
ID 11662
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 # IGL00731
Quality Score
Status
Chromosome 7
Chromosomal Location 43751752-43756007 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43755347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 182 (E182G)
Ref Sequence ENSEMBL: ENSMUSP00000082582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085455]
AlphaFold Q61759
Predicted Effect possibly damaging
Transcript: ENSMUST00000085455
AA Change: E182G

PolyPhen 2 Score 0.813 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000082582
Gene: ENSMUSG00000066516
AA Change: E182G

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 24 253 9.09e-96 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205984
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A G 8: 111,771,501 (GRCm39) probably benign Het
Adcy10 T C 1: 165,400,183 (GRCm39) F1531L probably benign Het
Cgas G A 9: 78,342,770 (GRCm39) P344L probably damaging Het
Dab2 T C 15: 6,465,191 (GRCm39) S463P possibly damaging Het
Ehf C T 2: 103,097,185 (GRCm39) probably null Het
Fnbp4 G T 2: 90,598,987 (GRCm39) V704L probably benign Het
Gbp7 T C 3: 142,252,189 (GRCm39) S591P probably benign Het
Gpr155 A G 2: 73,192,957 (GRCm39) L498P probably damaging Het
Igll1 T C 16: 16,678,783 (GRCm39) T176A probably benign Het
Npat G A 9: 53,473,386 (GRCm39) E393K probably damaging Het
Npnt C T 3: 132,610,418 (GRCm39) probably null Het
Pde2a A G 7: 101,157,306 (GRCm39) Y693C probably benign Het
Ralgapa1 A G 12: 55,749,237 (GRCm39) S1269P possibly damaging Het
Rasal2 A C 1: 156,985,334 (GRCm39) D804E probably benign Het
Rdh10 A G 1: 16,178,099 (GRCm39) N124D probably benign Het
Slit3 G T 11: 35,512,981 (GRCm39) D536Y probably damaging Het
Snx24 C T 18: 53,517,681 (GRCm39) probably benign Het
Spink12 G A 18: 44,241,177 (GRCm39) probably benign Het
Other mutations in Klk1b21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01710:Klk1b21 APN 7 43,755,919 (GRCm39) missense probably benign 0.13
IGL02015:Klk1b21 APN 7 43,753,782 (GRCm39) missense probably benign 0.41
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 2012-12-06