Incidental Mutation 'IGL01788:Klk1'
ID 155109
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klk1
Ensembl Gene ENSMUSG00000063903
Gene Name kallikrein 1
Synonyms Klk6, mGk-6, 0610007D04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL01788
Quality Score
Status
Chromosome 7
Chromosomal Location 43874784-43879042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43878407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 189 (I189T)
Ref Sequence ENSEMBL: ENSMUSP00000074659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037220] [ENSMUST00000075162] [ENSMUST00000206144] [ENSMUST00000206366] [ENSMUST00000206686]
AlphaFold P15947
Predicted Effect probably benign
Transcript: ENSMUST00000037220
SMART Domains Protein: ENSMUSP00000048665
Gene: ENSMUSG00000038782

DomainStartEndE-ValueType
transmembrane domain 35 52 N/A INTRINSIC
transmembrane domain 59 81 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000072123
SMART Domains Protein: ENSMUSP00000071992
Gene: ENSMUSG00000062073

DomainStartEndE-ValueType
transmembrane domain 32 49 N/A INTRINSIC
transmembrane domain 62 84 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000075162
AA Change: I189T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000074659
Gene: ENSMUSG00000063903
AA Change: I189T

DomainStartEndE-ValueType
Tryp_SPc 24 253 7.26e-104 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205329
Predicted Effect probably benign
Transcript: ENSMUST00000206144
AA Change: I87T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206366
Predicted Effect probably benign
Transcript: ENSMUST00000206686
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. Mice lacking the encoded protein are unable to generate significant levels of kinins in most tissues, develop cardiovascular abnormalities and exhibit hypercalciuria of renal origin. This gene is located in a cluster of several related kallikrein genes on chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230009I02Rik T G 11: 50,982,542 (GRCm39) noncoding transcript Het
Acp6 A G 3: 97,073,198 (GRCm39) T80A probably damaging Het
Adamtsl5 T C 10: 80,180,757 (GRCm39) T102A probably benign Het
Adcy6 C A 15: 98,494,400 (GRCm39) E812* probably null Het
Apol6 G A 15: 76,935,216 (GRCm39) V162I possibly damaging Het
Atp6v1h T A 1: 5,220,206 (GRCm39) M396K possibly damaging Het
B3gnt8 A G 7: 25,328,613 (GRCm39) T348A probably damaging Het
Cgnl1 A G 9: 71,562,672 (GRCm39) V869A probably benign Het
Dcaf5 A T 12: 80,395,098 (GRCm39) I357N probably damaging Het
Dennd4a A G 9: 64,749,903 (GRCm39) I165V probably benign Het
Dlgap2 T A 8: 14,893,631 (GRCm39) I982K probably benign Het
Dop1a A T 9: 86,413,772 (GRCm39) H1891L probably benign Het
Fhad1 A C 4: 141,660,113 (GRCm39) S65R probably benign Het
Fn1 A G 1: 71,652,996 (GRCm39) I1331T probably damaging Het
Fto A T 8: 92,136,359 (GRCm39) Y211F probably benign Het
Gm3278 A C 14: 16,080,370 (GRCm39) R60S probably benign Het
Ifna9 A G 4: 88,510,097 (GRCm39) S176P probably damaging Het
Mcph1 G A 8: 18,682,419 (GRCm39) G519R probably damaging Het
Mcph1 G A 8: 18,682,420 (GRCm39) G519E probably damaging Het
N4bp1 A T 8: 87,587,624 (GRCm39) V438E probably benign Het
Ncapg T A 5: 45,828,423 (GRCm39) V58E probably damaging Het
Nid2 T A 14: 19,858,047 (GRCm39) S1054T probably damaging Het
Nlrp4a A T 7: 26,153,492 (GRCm39) Y681F probably benign Het
Or4f57 T C 2: 111,791,352 (GRCm39) D22G probably benign Het
Or4k15c A G 14: 50,321,959 (GRCm39) Y60H probably damaging Het
Or52e19b C A 7: 103,032,770 (GRCm39) M146I probably benign Het
Or5b94 G A 19: 12,652,442 (GRCm39) R291K probably damaging Het
Papln A T 12: 83,822,236 (GRCm39) T364S probably benign Het
Pcdh18 C A 3: 49,710,371 (GRCm39) E315* probably null Het
Pmel G A 10: 128,553,701 (GRCm39) R445Q probably damaging Het
Ppp1r12b C T 1: 134,821,245 (GRCm39) V182I possibly damaging Het
Ptprn2 A G 12: 116,864,607 (GRCm39) T541A probably damaging Het
Rbl1 A T 2: 157,005,576 (GRCm39) N813K probably benign Het
Sash1 C A 10: 8,609,410 (GRCm39) R713L probably benign Het
Slc13a1 T G 6: 24,134,371 (GRCm39) T171P probably damaging Het
Slc18b1 G T 10: 23,701,899 (GRCm39) E407D probably damaging Het
Slc2a6 G A 2: 26,914,227 (GRCm39) Q297* probably null Het
Vmn1r209 T C 13: 22,989,832 (GRCm39) H286R probably damaging Het
Vmn1r28 C A 6: 58,242,522 (GRCm39) H122N probably benign Het
Wfs1 A G 5: 37,125,980 (GRCm39) Y304H probably benign Het
Zfp512b A G 2: 181,230,556 (GRCm39) S445P possibly damaging Het
Other mutations in Klk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01571:Klk1 APN 7 43,878,020 (GRCm39) missense probably damaging 0.98
R0011:Klk1 UTSW 7 43,878,959 (GRCm39) missense probably benign 0.03
R0184:Klk1 UTSW 7 43,878,173 (GRCm39) missense possibly damaging 0.50
R0853:Klk1 UTSW 7 43,870,922 (GRCm39) unclassified probably benign
R0925:Klk1 UTSW 7 43,878,240 (GRCm39) critical splice donor site probably null
R2044:Klk1 UTSW 7 43,878,458 (GRCm39) missense possibly damaging 0.95
R2518:Klk1 UTSW 7 43,870,161 (GRCm39) splice site probably null
R2982:Klk1 UTSW 7 43,878,863 (GRCm39) missense probably damaging 1.00
R3962:Klk1 UTSW 7 43,878,973 (GRCm39) missense possibly damaging 0.87
R4041:Klk1 UTSW 7 43,878,986 (GRCm39) missense probably damaging 1.00
R4067:Klk1 UTSW 7 43,876,968 (GRCm39) nonsense probably null
R4385:Klk1 UTSW 7 43,877,993 (GRCm39) missense probably benign 0.12
R4901:Klk1 UTSW 7 43,878,139 (GRCm39) missense probably damaging 0.99
R5256:Klk1 UTSW 7 43,870,985 (GRCm39) unclassified probably benign
R5580:Klk1 UTSW 7 43,878,238 (GRCm39) missense probably benign 0.00
R5595:Klk1 UTSW 7 43,878,161 (GRCm39) splice site probably null
R6818:Klk1 UTSW 7 43,878,883 (GRCm39) missense probably damaging 1.00
R7100:Klk1 UTSW 7 43,878,848 (GRCm39) missense probably damaging 1.00
R8351:Klk1 UTSW 7 43,878,410 (GRCm39) missense probably benign 0.11
R8451:Klk1 UTSW 7 43,878,410 (GRCm39) missense probably benign 0.11
R8458:Klk1 UTSW 7 43,874,933 (GRCm39) missense probably damaging 1.00
R8850:Klk1 UTSW 7 43,877,056 (GRCm39) missense probably damaging 0.99
R9081:Klk1 UTSW 7 43,874,952 (GRCm39) unclassified probably benign
R9786:Klk1 UTSW 7 43,878,104 (GRCm39) missense probably damaging 0.97
R9796:Klk1 UTSW 7 43,877,965 (GRCm39) missense possibly damaging 0.95
Posted On 2014-02-04