Incidental Mutation 'IGL02365:Klk13'
ID 290707
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klk13
Ensembl Gene ENSMUSG00000054046
Gene Name kallikrein related-peptidase 13
Synonyms mGk-13
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL02365
Quality Score
Status
Chromosome 7
Chromosomal Location 43361991-43376958 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 43373290 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Threonine at position 107 (K107T)
Ref Sequence ENSEMBL: ENSMUSP00000145875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066834] [ENSMUST00000205457] [ENSMUST00000206554]
AlphaFold Q8CGR6
Predicted Effect possibly damaging
Transcript: ENSMUST00000066834
AA Change: K208T

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000065308
Gene: ENSMUSG00000054046
AA Change: K208T

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Tryp_SPc 36 259 4.47e-95 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181454
Predicted Effect possibly damaging
Transcript: ENSMUST00000205457
AA Change: K107T

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000206554
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Kallikreins are serine proteases encoded by a cluster of highly related genes on chromosome 7. When genomic sequence became available, it was possible to clarify the gene-to-sequence relationship for this family. Until January, 2006, NM_010115 was called kallikrein 13. After that time, NM_001039042 was called Klk13 and NM_010115 was called Klk1b26. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acyp2 A T 11: 30,599,318 (GRCm39) V21E probably damaging Het
Adgrl3 A G 5: 81,660,428 (GRCm39) D331G probably damaging Het
Arfgef1 A T 1: 10,270,108 (GRCm39) I347N probably benign Het
Bfsp1 T G 2: 143,668,656 (GRCm39) E647A probably damaging Het
Bhmt A T 13: 93,754,146 (GRCm39) N354K probably benign Het
Brinp3 A T 1: 146,776,860 (GRCm39) T436S probably benign Het
Capza1b T C X: 168,559,526 (GRCm39) N272D probably benign Het
Cog7 C A 7: 121,576,959 (GRCm39) M66I possibly damaging Het
Csf2rb2 A T 15: 78,171,260 (GRCm39) M333K possibly damaging Het
Cyp2u1 A G 3: 131,091,878 (GRCm39) V214A probably damaging Het
Dcaf5 A T 12: 80,445,547 (GRCm39) H177Q probably benign Het
Dchs1 T C 7: 105,404,395 (GRCm39) T2716A probably benign Het
Dsc1 T C 18: 20,241,873 (GRCm39) Q156R probably damaging Het
Dspp G T 5: 104,323,927 (GRCm39) G357W probably damaging Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Fto T G 8: 92,195,003 (GRCm39) S265R probably damaging Het
Gphb5 A G 12: 75,462,591 (GRCm39) probably benign Het
Iars1 T C 13: 49,844,975 (GRCm39) V162A probably benign Het
Kpna7 T A 5: 144,922,543 (GRCm39) D507V possibly damaging Het
Lamb1 A T 12: 31,368,344 (GRCm39) E1158V probably damaging Het
Lonp2 A T 8: 87,442,993 (GRCm39) D818V possibly damaging Het
Med15 A G 16: 17,489,470 (GRCm39) probably benign Het
Or5p51 T A 7: 107,444,119 (GRCm39) N274Y probably damaging Het
Or6c69b T C 10: 129,627,404 (GRCm39) D18G possibly damaging Het
Or8g52 A T 9: 39,630,970 (GRCm39) Y149F possibly damaging Het
Or8g52 G A 9: 39,631,396 (GRCm39) S291N probably damaging Het
Plpbp A G 8: 27,535,952 (GRCm39) I82V probably benign Het
Ptprcap A G 19: 4,206,267 (GRCm39) I117V probably benign Het
Rhox12 T A X: 37,196,758 (GRCm39) D88V possibly damaging Het
Rnpc3 A G 3: 113,402,048 (GRCm39) S500P probably damaging Het
Sdhd A T 9: 50,510,125 (GRCm39) Y84N possibly damaging Het
Sema6d G A 2: 124,498,788 (GRCm39) V233I probably benign Het
Vegfb A T 19: 6,962,855 (GRCm39) I140N probably benign Het
Vldlr A G 19: 27,223,025 (GRCm39) Y732C probably damaging Het
Vmn2r17 T A 5: 109,601,175 (GRCm39) F824L probably damaging Het
Xdh A T 17: 74,250,885 (GRCm39) N22K probably benign Het
Zc3h11a A C 1: 133,565,151 (GRCm39) N249K probably benign Het
Zwilch T A 9: 64,068,206 (GRCm39) D203V probably damaging Het
Other mutations in Klk13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01452:Klk13 APN 7 43,376,060 (GRCm39) missense possibly damaging 0.88
IGL02792:Klk13 APN 7 43,370,838 (GRCm39) missense possibly damaging 0.67
IGL03105:Klk13 APN 7 43,370,904 (GRCm39) missense probably benign 0.01
IGL03246:Klk13 APN 7 43,370,422 (GRCm39) missense probably damaging 0.98
R0254:Klk13 UTSW 7 43,373,245 (GRCm39) missense probably benign 0.00
R0973:Klk13 UTSW 7 43,370,582 (GRCm39) critical splice donor site probably null
R0973:Klk13 UTSW 7 43,370,582 (GRCm39) critical splice donor site probably null
R0974:Klk13 UTSW 7 43,370,582 (GRCm39) critical splice donor site probably null
R1960:Klk13 UTSW 7 43,370,431 (GRCm39) missense possibly damaging 0.74
R4607:Klk13 UTSW 7 43,363,284 (GRCm39) nonsense probably null
R4608:Klk13 UTSW 7 43,363,284 (GRCm39) nonsense probably null
R7018:Klk13 UTSW 7 43,376,126 (GRCm39) missense probably benign 0.00
R7234:Klk13 UTSW 7 43,370,841 (GRCm39) missense probably damaging 1.00
R7375:Klk13 UTSW 7 43,370,582 (GRCm39) critical splice donor site probably null
R7480:Klk13 UTSW 7 43,370,846 (GRCm39) missense probably benign 0.00
R7876:Klk13 UTSW 7 43,370,403 (GRCm39) missense probably benign 0.12
R8326:Klk13 UTSW 7 43,376,136 (GRCm39) missense probably benign 0.03
R8388:Klk13 UTSW 7 43,373,235 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16