Incidental Mutation 'IGL03105:Klk13'
ID 418933
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 # IGL03105
Quality Score
Status
Chromosome 7
Chromosomal Location 43361991-43376958 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43370904 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 51 (L51P)
Ref Sequence ENSEMBL: ENSMUSP00000145875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066834] [ENSMUST00000205457] [ENSMUST00000206554]
AlphaFold Q8CGR6
Predicted Effect probably benign
Transcript: ENSMUST00000066834
AA Change: L152P

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000065308
Gene: ENSMUSG00000054046
AA Change: L152P

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
AA Change: L51P

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adss1 A G 12: 112,599,155 (GRCm39) I129V probably benign Het
Ankrd35 A G 3: 96,591,373 (GRCm39) H553R probably benign Het
Brca2 A G 5: 150,483,950 (GRCm39) K2923R probably benign Het
Cadm3 A T 1: 173,172,583 (GRCm39) L174M probably damaging Het
Car10 T C 11: 92,991,101 (GRCm39) V17A probably benign Het
Cep290 A G 10: 100,387,686 (GRCm39) K1956E possibly damaging Het
Cfhr1 T A 1: 139,475,565 (GRCm39) probably benign Het
Crim1 A T 17: 78,623,179 (GRCm39) probably benign Het
Dedd G A 1: 171,168,486 (GRCm39) R224H probably damaging Het
F7 A T 8: 13,084,001 (GRCm39) I229L probably null Het
Igkv17-121 A T 6: 68,014,284 (GRCm39) Q112L probably damaging Het
Kcnk13 G A 12: 100,027,369 (GRCm39) R148Q probably damaging Het
Ldb2 A G 5: 44,956,715 (GRCm39) S41P possibly damaging Het
Magi2 A G 5: 20,748,616 (GRCm39) D767G probably damaging Het
Mical3 T C 6: 121,019,199 (GRCm39) T8A probably benign Het
Mkln1 G T 6: 31,435,994 (GRCm39) E318* probably null Het
Mx1 C T 16: 97,257,554 (GRCm39) V68I possibly damaging Het
Mylk2 T C 2: 152,759,279 (GRCm39) V350A possibly damaging Het
Nav2 T A 7: 49,114,627 (GRCm39) S870R probably damaging Het
Onecut2 A T 18: 64,474,579 (GRCm39) K358* probably null Het
Or51b4 A G 7: 103,531,339 (GRCm39) I37T possibly damaging Het
Or52n2c A T 7: 104,574,971 (GRCm39) probably benign Het
Or7a40 T C 16: 16,491,390 (GRCm39) T152A probably benign Het
Or7g16 T C 9: 18,726,685 (GRCm39) R302G probably benign Het
Orai3 A G 7: 127,372,725 (GRCm39) probably benign Het
Rad54b A G 4: 11,615,569 (GRCm39) N859S probably benign Het
Saxo4 A G 19: 10,454,384 (GRCm39) probably benign Het
Sec23b C T 2: 144,423,940 (GRCm39) R530W probably damaging Het
Slc25a35 T C 11: 68,859,496 (GRCm39) F3S probably damaging Het
Slc7a11 A T 3: 50,326,788 (GRCm39) I491K possibly damaging Het
Srrt A T 5: 137,298,106 (GRCm39) N317K possibly damaging Het
Sspo T C 6: 48,450,592 (GRCm39) probably benign Het
Taf2 A C 15: 54,909,195 (GRCm39) D683E probably benign Het
Tasor T A 14: 27,164,509 (GRCm39) C272S probably damaging Het
Tcerg1l G T 7: 137,850,173 (GRCm39) probably benign Het
Tg G T 15: 66,586,955 (GRCm39) V1578F probably benign Het
Tmem43 G A 6: 91,457,682 (GRCm39) G188D probably damaging Het
Tnfrsf8 T C 4: 145,025,354 (GRCm39) Y73C probably damaging Het
Ttc21a A G 9: 119,771,642 (GRCm39) Y147C probably benign Het
Ttn T C 2: 76,608,394 (GRCm39) D17843G probably damaging Het
Ttn T A 2: 76,642,521 (GRCm39) D11592V probably damaging Het
Tubgcp5 T A 7: 55,475,329 (GRCm39) I842N probably damaging Het
Unc80 A T 1: 66,511,258 (GRCm39) T89S probably damaging Het
Usp28 T C 9: 48,950,355 (GRCm39) M928T probably damaging Het
Usp43 A G 11: 67,770,802 (GRCm39) S611P possibly damaging Het
Utp20 A G 10: 88,626,958 (GRCm39) V1000A probably benign Het
Zfp263 T C 16: 3,566,824 (GRCm39) C380R probably damaging Het
Zfyve1 A C 12: 83,605,413 (GRCm39) C14G probably damaging Het
Other mutations in Klk13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01452:Klk13 APN 7 43,376,060 (GRCm39) missense possibly damaging 0.88
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
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 2016-08-02