Incidental Mutation 'IGL02691:Klk6'
ID 303755
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klk6
Ensembl Gene ENSMUSG00000050063
Gene Name kallikrein related-peptidase 6
Synonyms protease M, Prss18, neurosin, Klk29, Prss9, Bssp
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02691
Quality Score
Status
Chromosome 7
Chromosomal Location 43473967-43481219 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43477924 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 99 (T99A)
Ref Sequence ENSEMBL: ENSMUSP00000135591 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107966] [ENSMUST00000107967] [ENSMUST00000107968] [ENSMUST00000177514]
AlphaFold Q91Y82
Predicted Effect probably benign
Transcript: ENSMUST00000107966
AA Change: T99A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000103600
Gene: ENSMUSG00000050063
AA Change: T99A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Tryp_SPc 28 244 3.1e-89 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107967
AA Change: T99A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000103601
Gene: ENSMUSG00000050063
AA Change: T99A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Tryp_SPc 28 244 3.1e-89 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107968
AA Change: T99A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000103602
Gene: ENSMUSG00000050063
AA Change: T99A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Tryp_SPc 28 244 3.1e-89 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177514
AA Change: T99A

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000135591
Gene: ENSMUSG00000050063
AA Change: T99A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Tryp_SPc 28 129 5.07e-4 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the kallikrein subfamily of the peptidase S1 family of serine proteases. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. The encoded preproprotein is proteolytically processed to generate the mature protease. Expression of this protease is regulated by steroid hormones and may be elevated in multiple human cancers and in serum from psoriasis patients. The encoded protease may participate in the cleavage of amyloid precursor protein and alpha-synuclein, thus implicating this protease in Alzheimer's and Parkinson's disease, respectively. This gene is located in a gene cluster on chromosome 19. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased mature oligodendrocytes in the developing spinal cord. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,655,457 (GRCm39) S40P probably benign Het
Actl9 G T 17: 33,652,092 (GRCm39) V51L probably damaging Het
Adcy6 A T 15: 98,502,185 (GRCm39) F143Y probably damaging Het
Agps A T 2: 75,722,204 (GRCm39) I465F probably benign Het
Armc3 T A 2: 19,240,295 (GRCm39) F17L probably damaging Het
Arsk A C 13: 76,223,069 (GRCm39) M176R probably damaging Het
Asz1 G A 6: 18,076,556 (GRCm39) T212I probably damaging Het
Atp6v1a A G 16: 43,931,982 (GRCm39) I102T probably damaging Het
Bpifb6 T A 2: 153,744,565 (GRCm39) L2Q unknown Het
Cad A G 5: 31,212,638 (GRCm39) Y45C probably damaging Het
Ccdc93 A G 1: 121,414,342 (GRCm39) D451G possibly damaging Het
Cenpj A G 14: 56,789,547 (GRCm39) I834T probably benign Het
Cyp2j12 C T 4: 96,021,231 (GRCm39) probably null Het
Dhx8 G A 11: 101,642,830 (GRCm39) probably benign Het
Dync1i1 A G 6: 5,800,767 (GRCm39) probably benign Het
Ell2 T A 13: 75,904,605 (GRCm39) D99E probably damaging Het
Enpp1 G T 10: 24,587,790 (GRCm39) P34T probably damaging Het
Fras1 T A 5: 96,892,564 (GRCm39) V2888E possibly damaging Het
Gmfg A G 7: 28,144,295 (GRCm39) Y40C probably damaging Het
Gnal T C 18: 67,355,746 (GRCm39) I369T probably damaging Het
Gzmn T C 14: 56,404,370 (GRCm39) T156A probably benign Het
H2-DMb2 A T 17: 34,366,832 (GRCm39) H88L probably benign Het
Ighv7-3 T C 12: 114,117,016 (GRCm39) T49A probably benign Het
Jakmip3 C T 7: 138,628,573 (GRCm39) Q450* probably null Het
Klhl20 A T 1: 160,934,444 (GRCm39) probably benign Het
Lhx3 A G 2: 26,093,097 (GRCm39) C118R probably damaging Het
Mapkbp1 T C 2: 119,803,655 (GRCm39) probably benign Het
Naa15 A G 3: 51,358,747 (GRCm39) E294G probably damaging Het
Nfia C T 4: 97,970,045 (GRCm39) Q373* probably null Het
Notch2 C A 3: 98,042,923 (GRCm39) Y1429* probably null Het
Oc90 A G 15: 65,754,410 (GRCm39) S252P probably damaging Het
Or56a3b A G 7: 104,771,338 (GRCm39) I225V probably damaging Het
Or8k37 T C 2: 86,469,182 (GRCm39) Y290C probably damaging Het
Pde3b T A 7: 114,107,320 (GRCm39) probably benign Het
Pdss1 G A 2: 22,805,253 (GRCm39) V211I probably benign Het
Phactr1 G T 13: 43,231,213 (GRCm39) M226I probably benign Het
Phf11c A G 14: 59,622,236 (GRCm39) S259P probably damaging Het
Phf20l1 A G 15: 66,476,713 (GRCm39) N269S probably damaging Het
Piezo1 A G 8: 123,228,688 (GRCm39) V229A possibly damaging Het
Plcb2 T C 2: 118,541,444 (GRCm39) K997R probably benign Het
Ppm1m A T 9: 106,072,568 (GRCm39) V449E probably damaging Het
Ppp1r36dn T C 12: 76,498,073 (GRCm39) noncoding transcript Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Rgs14 A G 13: 55,526,836 (GRCm39) probably null Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Scamp5 G T 9: 57,358,660 (GRCm39) R39S probably damaging Het
Slc5a6 C T 5: 31,199,518 (GRCm39) V15I probably damaging Het
Snx25 A T 8: 46,558,302 (GRCm39) V235E possibly damaging Het
Tdrd1 G T 19: 56,832,284 (GRCm39) E400D probably damaging Het
Tln1 T C 4: 43,539,544 (GRCm39) R1593G probably benign Het
Trdv2-2 T C 14: 54,199,039 (GRCm39) F110L possibly damaging Het
Ush2a A C 1: 188,466,949 (GRCm39) Y2871S probably damaging Het
Vars2 A C 17: 35,971,140 (GRCm39) L592R probably damaging Het
Vipr2 T A 12: 116,099,849 (GRCm39) C239S probably benign Het
Vmn1r200 A T 13: 22,579,428 (GRCm39) D68V probably damaging Het
Vmn1r7 A T 6: 57,001,373 (GRCm39) S296T probably benign Het
Vmn2r95 T C 17: 18,672,120 (GRCm39) I619T probably benign Het
Other mutations in Klk6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0382:Klk6 UTSW 7 43,478,669 (GRCm39) missense probably benign 0.03
R0453:Klk6 UTSW 7 43,477,963 (GRCm39) missense probably damaging 1.00
R1479:Klk6 UTSW 7 43,481,058 (GRCm39) missense probably benign 0.03
R1521:Klk6 UTSW 7 43,478,699 (GRCm39) critical splice donor site probably null
R1772:Klk6 UTSW 7 43,478,695 (GRCm39) nonsense probably null
R1902:Klk6 UTSW 7 43,475,481 (GRCm39) start codon destroyed probably benign 0.03
R4238:Klk6 UTSW 7 43,478,597 (GRCm39) missense probably benign 0.02
R4239:Klk6 UTSW 7 43,478,597 (GRCm39) missense probably benign 0.02
R4240:Klk6 UTSW 7 43,478,597 (GRCm39) missense probably benign 0.02
R5182:Klk6 UTSW 7 43,478,084 (GRCm39) missense probably benign 0.16
R5274:Klk6 UTSW 7 43,478,553 (GRCm39) splice site probably null
R6776:Klk6 UTSW 7 43,476,298 (GRCm39) missense probably damaging 1.00
R7411:Klk6 UTSW 7 43,476,367 (GRCm39) missense probably damaging 1.00
R7702:Klk6 UTSW 7 43,478,689 (GRCm39) missense probably damaging 0.98
R8035:Klk6 UTSW 7 43,478,086 (GRCm39) missense probably benign 0.00
R8828:Klk6 UTSW 7 43,478,062 (GRCm39) missense probably damaging 1.00
R8828:Klk6 UTSW 7 43,478,061 (GRCm39) missense
R8990:Klk6 UTSW 7 43,476,254 (GRCm39) missense probably benign 0.05
R9316:Klk6 UTSW 7 43,477,912 (GRCm39) missense probably benign 0.00
R9570:Klk6 UTSW 7 43,477,967 (GRCm39) missense probably damaging 1.00
Z1088:Klk6 UTSW 7 43,477,912 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16