Incidental Mutation 'IGL01330:Klk1b9'
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ID74454
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klk1b9
Ensembl Gene ENSMUSG00000059042
Gene Namekallikrein 1-related peptidase b9
SynonymsKlk9, Egfbp3, mGk-9, Egfbp-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL01330
Quality Score
Status
Chromosome7
Chromosomal Location43976061-43980376 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 43978443 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Stop codon at position 55 (L55*)
Ref Sequence ENSEMBL: ENSMUSP00000080133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081399]
Predicted Effect probably null
Transcript: ENSMUST00000081399
AA Change: L55*
SMART Domains Protein: ENSMUSP00000080133
Gene: ENSMUSG00000059042
AA Change: L55*

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 24 253 1.54e-98 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206172
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206787
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206796
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. This gene is located in a cluster of several related kallikrein genes on chromosome 7. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf A G 19: 31,920,951 E245G possibly damaging Het
Acap2 T C 16: 31,154,677 I43V probably damaging Het
Acot11 T C 4: 106,771,484 T36A probably benign Het
Bsn A G 9: 108,110,913 probably benign Het
Capza2 T C 6: 17,654,171 probably null Het
Cerkl A G 2: 79,368,781 I155T possibly damaging Het
Dclre1b T C 3: 103,803,126 T490A probably benign Het
Efcab6 G A 15: 84,044,300 S31L probably benign Het
Faim T A 9: 98,992,535 M67K probably damaging Het
Frem2 T G 3: 53,655,241 Q615P possibly damaging Het
Fut9 A G 4: 25,619,791 V341A possibly damaging Het
Grhpr T C 4: 44,986,375 F142L probably benign Het
Kif14 T C 1: 136,476,374 V532A probably damaging Het
Kmt2e C A 5: 23,497,948 P1042Q possibly damaging Het
Mpped1 T A 15: 83,800,119 I114N probably damaging Het
Mtap C A 4: 89,171,223 T148K probably damaging Het
Muc16 G A 9: 18,508,507 A8347V possibly damaging Het
Nhs A T X: 161,841,453 S967T probably damaging Het
Npas3 A G 12: 54,048,819 Y344C probably damaging Het
Olfr1431 T C 19: 12,210,040 V158A possibly damaging Het
Olfr635 A T 7: 103,980,142 probably benign Het
Olfr876 T A 9: 37,804,220 F103Y probably damaging Het
Osmr A G 15: 6,842,028 Y303H probably damaging Het
Pcdhb8 A T 18: 37,357,578 I770F probably benign Het
Pde4a C T 9: 21,192,438 probably benign Het
Prkacb T G 3: 146,751,511 N79T probably damaging Het
Psd3 A C 8: 67,697,178 Y1222D probably damaging Het
Rrbp1 T A 2: 143,968,618 E847D possibly damaging Het
Sbno1 A T 5: 124,391,979 D912E probably damaging Het
Sgsm3 T A 15: 81,010,852 probably benign Het
Shcbp1 T C 8: 4,736,372 T577A probably benign Het
Siglec1 A T 2: 131,083,536 V335D probably damaging Het
Siglec1 A T 2: 131,075,005 L1110* probably null Het
Slc4a11 A G 2: 130,687,682 I335T probably benign Het
Smchd1 A C 17: 71,436,788 S461A probably benign Het
Spata16 C T 3: 26,914,715 P415S probably damaging Het
Tdrd12 G A 7: 35,505,034 S217L possibly damaging Het
Tmem156 C T 5: 65,080,182 R45H probably benign Het
Vmn2r90 T C 17: 17,733,280 S569P probably benign Het
Vps13c T A 9: 67,964,108 V3220E probably damaging Het
Wdr59 T C 8: 111,481,933 N439S possibly damaging Het
Zfp568 A G 7: 30,022,277 M215V probably benign Het
Zgrf1 T A 3: 127,584,007 V967E probably damaging Het
Zkscan16 A G 4: 58,956,483 D255G possibly damaging Het
Other mutations in Klk1b9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00934:Klk1b9 APN 7 43978454 missense probably damaging 1.00
IGL03329:Klk1b9 APN 7 43979414 missense probably benign 0.00
R0206:Klk1b9 UTSW 7 43979430 missense possibly damaging 0.70
R0208:Klk1b9 UTSW 7 43979430 missense possibly damaging 0.70
R0632:Klk1b9 UTSW 7 43979372 missense possibly damaging 0.56
R1289:Klk1b9 UTSW 7 43978424 missense probably benign
R1437:Klk1b9 UTSW 7 43979690 missense probably damaging 1.00
R1994:Klk1b9 UTSW 7 43979555 missense probably benign 0.04
R5006:Klk1b9 UTSW 7 43979287 nonsense probably null
R6572:Klk1b9 UTSW 7 43979735 missense probably benign
R7149:Klk1b9 UTSW 7 43979417 missense probably benign 0.30
R7726:Klk1b9 UTSW 7 43978416 missense possibly damaging 0.47
R7911:Klk1b9 UTSW 7 43979787 missense probably damaging 1.00
Posted On2013-10-07