Incidental Mutation 'IGL02792:Klk13'
ID359779
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klk13
Ensembl Gene ENSMUSG00000054046
Gene Namekallikrein related-peptidase 13
SynonymsmGk-13
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL02792
Quality Score
Status
Chromosome7
Chromosomal Location43712567-43727534 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 43721414 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 29 (E29G)
Ref Sequence ENSEMBL: ENSMUSP00000145875 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066834] [ENSMUST00000205457] [ENSMUST00000206554]
Predicted Effect possibly damaging
Transcript: ENSMUST00000066834
AA Change: E130G

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000065308
Gene: ENSMUSG00000054046
AA Change: E130G

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: E29G

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000206554
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207018
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700067P10Rik G A 17: 48,090,587 V131M probably benign Het
Abca6 A T 11: 110,188,681 C1216S probably damaging Het
Acly T C 11: 100,478,410 K1018E probably damaging Het
Acsl5 G A 19: 55,293,731 probably null Het
Adgrb1 C A 15: 74,547,622 L771I probably damaging Het
Adh7 A T 3: 138,223,737 K89I probably damaging Het
Adora2b A T 11: 62,265,483 I253F possibly damaging Het
Akna G A 4: 63,377,706 P975S possibly damaging Het
Alg9 T C 9: 50,842,748 L576P possibly damaging Het
Arhgap20 A G 9: 51,849,918 E1023G possibly damaging Het
Astn2 A T 4: 65,644,821 S908T probably benign Het
Atp1a4 C T 1: 172,227,299 probably null Het
Cabin1 T C 10: 75,746,739 Y281C probably damaging Het
Cdc42bpb G T 12: 111,299,561 F1312L probably benign Het
Cfap65 A C 1: 74,927,178 F330C probably damaging Het
Col27a1 C T 4: 63,315,583 P689S unknown Het
Col4a3 A T 1: 82,718,803 K1643N probably damaging Het
Dopey2 T A 16: 93,801,572 V1875D possibly damaging Het
Eftud2 A G 11: 102,870,256 probably benign Het
Ergic3 C A 2: 156,017,850 T357K probably damaging Het
Glra1 A T 11: 55,536,400 D36E probably damaging Het
Gpatch1 A G 7: 35,301,593 Y330H probably damaging Het
Hmcn2 T C 2: 31,346,590 S382P probably damaging Het
Kat6a G A 8: 22,938,300 E1224K probably damaging Het
Klra9 T C 6: 130,188,680 D124G probably benign Het
Lrmda T C 14: 22,019,910 probably null Het
Ltbp1 G A 17: 75,282,994 V539M probably damaging Het
Ngfr A C 11: 95,571,861 L317R probably damaging Het
Nlrp6 C A 7: 140,922,435 H151Q probably damaging Het
Nnt A G 13: 119,357,646 L633P probably damaging Het
Nxpe3 C T 16: 55,866,172 V158M probably damaging Het
Olfr266 T C 3: 106,822,140 T140A probably damaging Het
Olfr716 T C 7: 107,148,218 F301L probably benign Het
Olfr828 C T 9: 18,815,958 S112N probably benign Het
Pla2g4f T C 2: 120,303,369 Y517C probably damaging Het
Poc1a A T 9: 106,295,194 I207F possibly damaging Het
Polr2a A G 11: 69,746,112 S338P probably damaging Het
Ptprz1 T C 6: 22,959,723 V73A probably damaging Het
Relb A T 7: 19,613,864 L281Q probably damaging Het
Rrp8 A T 7: 105,733,811 L382* probably null Het
Setd1a C T 7: 127,791,350 S523F unknown Het
Slamf8 A G 1: 172,588,130 I47T probably damaging Het
Slc16a4 G A 3: 107,298,877 A88T probably benign Het
Sox6 C T 7: 115,541,649 M532I probably benign Het
Tcp11l1 T A 2: 104,681,820 Y489F probably benign Het
Tdrd6 T G 17: 43,625,027 D1710A probably benign Het
Trim58 C T 11: 58,640,466 probably benign Het
Vangl1 A T 3: 102,163,423 I399N probably damaging Het
Vmn1r201 T C 13: 22,474,844 L76P probably damaging Het
Vmn1r58 T C 7: 5,411,229 M1V probably null Het
Wdfy4 T C 14: 33,095,305 I1561V probably benign Het
Xkr9 A G 1: 13,700,803 D181G probably damaging Het
Zfp318 T C 17: 46,409,178 F1101L probably damaging Het
Zfpm2 C A 15: 41,103,013 Q833K probably benign Het
Other mutations in Klk13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01452:Klk13 APN 7 43726636 missense possibly damaging 0.88
IGL02365:Klk13 APN 7 43723866 missense possibly damaging 0.62
IGL03105:Klk13 APN 7 43721480 missense probably benign 0.01
IGL03246:Klk13 APN 7 43720998 missense probably damaging 0.98
R0254:Klk13 UTSW 7 43723821 missense probably benign 0.00
R0973:Klk13 UTSW 7 43721158 critical splice donor site probably null
R0973:Klk13 UTSW 7 43721158 critical splice donor site probably null
R0974:Klk13 UTSW 7 43721158 critical splice donor site probably null
R1960:Klk13 UTSW 7 43721007 missense possibly damaging 0.74
R4607:Klk13 UTSW 7 43713860 nonsense probably null
R4608:Klk13 UTSW 7 43713860 nonsense probably null
R7018:Klk13 UTSW 7 43726702 missense probably benign 0.00
R7234:Klk13 UTSW 7 43721417 missense probably damaging 1.00
R7375:Klk13 UTSW 7 43721158 critical splice donor site probably null
R7480:Klk13 UTSW 7 43721422 missense probably benign 0.00
R7876:Klk13 UTSW 7 43720979 missense probably benign 0.12
R7959:Klk13 UTSW 7 43720979 missense probably benign 0.12
Posted On2015-12-18