Incidental Mutation 'IGL01452:Klk13'
ID 84671
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 # IGL01452
Quality Score
Status
Chromosome 7
Chromosomal Location 43361991-43376958 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 43376060 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 245 (R245L)
Ref Sequence ENSEMBL: ENSMUSP00000065308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066834] [ENSMUST00000205457]
AlphaFold Q8CGR6
Predicted Effect possibly damaging
Transcript: ENSMUST00000066834
AA Change: R245L

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000065308
Gene: ENSMUSG00000054046
AA Change: R245L

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 probably benign
Transcript: ENSMUST00000205457
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bltp1 T A 3: 37,050,457 (GRCm39) probably benign Het
Carmil3 A G 14: 55,733,515 (GRCm39) N344D probably damaging Het
Cd300ld2 G A 11: 114,903,428 (GRCm39) probably benign Het
Ddx19b A G 8: 111,747,620 (GRCm39) S105P probably damaging Het
Dpf3 C A 12: 83,316,263 (GRCm39) R336L probably benign Het
Ecpas A G 4: 58,836,181 (GRCm39) S720P probably damaging Het
Foxj3 T C 4: 119,478,825 (GRCm39) L427P unknown Het
Hdac11 A G 6: 91,144,843 (GRCm39) D157G probably damaging Het
Med25 C T 7: 44,532,255 (GRCm39) M367I possibly damaging Het
Mindy3 G A 2: 12,360,083 (GRCm39) probably benign Het
Mtf2 C T 5: 108,228,809 (GRCm39) P42S probably damaging Het
Muc5ac A T 7: 141,371,292 (GRCm39) L3269F probably benign Het
Or1j15 T A 2: 36,458,754 (GRCm39) L48H probably damaging Het
Pcnx2 A G 8: 126,564,771 (GRCm39) S1041P probably damaging Het
Pcnx4 G T 12: 72,621,174 (GRCm39) G998V possibly damaging Het
Ptprk G A 10: 28,450,913 (GRCm39) probably null Het
Scn9a A G 2: 66,357,416 (GRCm39) F951L probably damaging Het
Septin11 A C 5: 93,309,063 (GRCm39) K248Q possibly damaging Het
Src T A 2: 157,304,903 (GRCm39) Y151N probably damaging Het
Tbc1d32 A T 10: 56,091,176 (GRCm39) M119K possibly damaging Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Ttn A G 2: 76,656,475 (GRCm39) probably benign Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Other mutations in Klk13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02365:Klk13 APN 7 43,373,290 (GRCm39) missense possibly damaging 0.62
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 2013-11-11