Incidental Mutation 'IGL01710:Klk1b21'
ID 104736
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 # IGL01710
Quality Score
Status
Chromosome 7
Chromosomal Location 43751752-43756007 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 43755919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 249 (F249L)
Ref Sequence ENSEMBL: ENSMUSP00000082582 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085455]
AlphaFold Q61759
Predicted Effect probably benign
Transcript: ENSMUST00000085455
AA Change: F249L

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000082582
Gene: ENSMUSG00000066516
AA Change: F249L

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 G A 18: 62,004,645 (GRCm39) T48I probably damaging Het
Ccpg1 T C 9: 72,904,723 (GRCm39) probably benign Het
Chkb G A 15: 89,310,843 (GRCm39) Q379* probably null Het
Chst15 T A 7: 131,872,236 (GRCm39) D15V probably benign Het
Cntn4 G A 6: 106,527,392 (GRCm39) V425I possibly damaging Het
Cpa6 T A 1: 10,395,497 (GRCm39) N390I probably damaging Het
Efhd2 A G 4: 141,587,872 (GRCm39) F193S probably damaging Het
Ell3 T C 2: 121,271,993 (GRCm39) H128R probably damaging Het
Ercc5 T G 1: 44,203,235 (GRCm39) L291V probably damaging Het
Eva1c A G 16: 90,701,235 (GRCm39) Y302C probably damaging Het
Fmo3 A C 1: 162,810,612 (GRCm39) L26R probably damaging Het
Galntl6 T A 8: 58,989,002 (GRCm39) D17V probably damaging Het
Gm6483 C T 8: 19,741,629 (GRCm39) P55S probably damaging Het
Gstt2 A G 10: 75,669,579 (GRCm39) probably benign Het
Hmcn2 T A 2: 31,233,114 (GRCm39) L221Q probably damaging Het
Hoxa3 T C 6: 52,147,554 (GRCm39) probably benign Het
Kctd12b T C X: 152,472,479 (GRCm39) D70G probably damaging Het
Kdm7a T A 6: 39,152,320 (GRCm39) E125D probably benign Het
Mrpl41 T C 2: 24,864,429 (GRCm39) D81G possibly damaging Het
Nomo1 T A 7: 45,687,980 (GRCm39) L82Q probably damaging Het
Or5p58 G T 7: 107,694,449 (GRCm39) F109L probably benign Het
Papolg A T 11: 23,814,026 (GRCm39) S718T probably damaging Het
Pex6 A G 17: 47,036,252 (GRCm39) probably benign Het
Pi4k2a T A 19: 42,093,418 (GRCm39) L253Q probably damaging Het
Prdx6b T A 2: 80,123,490 (GRCm39) F100I probably damaging Het
Prr36 G A 8: 4,265,243 (GRCm39) P169L probably damaging Het
Ptgfrn T C 3: 100,980,404 (GRCm39) E312G probably damaging Het
Rasgrf1 A G 9: 89,873,745 (GRCm39) I685V probably benign Het
Setdb1 T C 3: 95,246,164 (GRCm39) E586G probably damaging Het
Sez6l2 C A 7: 126,567,388 (GRCm39) T841K probably damaging Het
Slc25a17 A T 15: 81,211,527 (GRCm39) L163* probably null Het
Slc35f3 A T 8: 127,115,900 (GRCm39) I276F probably benign Het
Tcerg1l T A 7: 137,996,789 (GRCm39) K149N possibly damaging Het
Tex28 T A X: 73,195,939 (GRCm39) K278* probably null Het
Tmprss9 A G 10: 80,733,793 (GRCm39) probably benign Het
Tnfaip8l1 A G 17: 56,478,782 (GRCm39) K24R probably benign Het
Trim36 T C 18: 46,321,455 (GRCm39) probably benign Het
Uba1 C T X: 20,537,604 (GRCm39) T274I possibly damaging Het
Ubr2 T C 17: 47,254,335 (GRCm39) T1439A probably benign Het
Ubr4 A G 4: 139,145,772 (GRCm39) D1523G possibly damaging Het
Uchl4 A T 9: 64,142,788 (GRCm39) T90S probably benign Het
Other mutations in Klk1b21
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00731:Klk1b21 APN 7 43,755,347 (GRCm39) missense possibly damaging 0.81
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 2014-01-21