Incidental Mutation 'IGL01531:Klk9'
ID89774
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klk9
Ensembl Gene ENSMUSG00000047884
Gene Namekallikrein related-peptidase 9
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01531
Quality Score
Status
Chromosome7
Chromosomal Location43791891-43796757 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 43792251 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 39 (G39D)
Ref Sequence ENSEMBL: ENSMUSP00000005891 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005891]
Predicted Effect probably damaging
Transcript: ENSMUST00000005891
AA Change: G39D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005891
Gene: ENSMUSG00000047884
AA Change: G39D

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Tryp_SPc 22 244 1.66e-89 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181454
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205527
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a kallikrein-related serine protease. This gene is activated by steroid hormones in a human breast cancer cell line, making it a good marker for cancer detection. The encoded protein is found primarily in the cytoplasm.[provided by RefSeq, Oct 2010]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,466,958 probably null Het
Adcy1 T C 11: 7,169,414 V1019A possibly damaging Het
Blm A G 7: 80,474,071 Y1004H probably damaging Het
Btbd11 T C 10: 85,629,205 probably benign Het
Cachd1 A C 4: 100,953,034 I278L probably benign Het
Ddx18 T A 1: 121,564,586 T131S probably benign Het
Dgkd T C 1: 87,880,411 F67S probably damaging Het
Dlgap1 A G 17: 70,516,379 T120A probably damaging Het
Dnaja3 T G 16: 4,694,404 V224G probably damaging Het
Dntt A T 19: 41,053,238 R454* probably null Het
Dync2h1 T A 9: 7,071,111 T3083S probably benign Het
Eea1 C A 10: 96,031,677 T1045K probably damaging Het
Gpnmb T A 6: 49,047,458 probably benign Het
Hirip3 A G 7: 126,863,376 E108G possibly damaging Het
Il33 C A 19: 29,951,981 Q35K possibly damaging Het
Il6ra G A 3: 89,886,043 L267F probably damaging Het
Impact C T 18: 12,976,019 S69F probably benign Het
Ldah A G 12: 8,227,337 D91G probably benign Het
Lrp4 T C 2: 91,511,553 L1837P probably damaging Het
Mov10l1 T A 15: 89,054,352 H1204Q probably damaging Het
Nlrp4c A G 7: 6,060,656 E21G probably damaging Het
Olfr361 T C 2: 37,085,395 M118V possibly damaging Het
Olfr629 T A 7: 103,741,114 N42I probably damaging Het
Osbpl1a T G 18: 12,933,581 K40N probably damaging Het
Ptprd T C 4: 76,085,520 T1010A probably damaging Het
Rp1 A G 1: 4,348,945 V648A probably benign Het
Scn9a T C 2: 66,537,378 K654E probably benign Het
Sema3d A G 5: 12,541,080 I309V probably benign Het
Slc6a2 T C 8: 92,995,682 L519P probably damaging Het
Stard9 A G 2: 120,673,604 I211V possibly damaging Het
Stau2 T C 1: 16,345,698 *480W probably null Het
Svopl T C 6: 38,026,941 probably benign Het
Virma A G 4: 11,528,753 E1330G probably damaging Het
Zan G A 5: 137,424,612 T2713I unknown Het
Other mutations in Klk9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02506:Klk9 APN 7 43795639 missense probably benign 0.33
R0452:Klk9 UTSW 7 43794251 unclassified probably benign
R0562:Klk9 UTSW 7 43795666 missense probably damaging 1.00
R1171:Klk9 UTSW 7 43794393 missense possibly damaging 0.82
R4385:Klk9 UTSW 7 43794275 missense probably benign 0.06
R5011:Klk9 UTSW 7 43795995 missense probably damaging 1.00
R5013:Klk9 UTSW 7 43795995 missense probably damaging 1.00
R6321:Klk9 UTSW 7 43794308 missense probably damaging 1.00
R7652:Klk9 UTSW 7 43796090 missense probably benign 0.43
R8878:Klk9 UTSW 7 43794358 missense possibly damaging 0.92
Z1088:Klk9 UTSW 7 43794311 missense probably damaging 1.00
Posted On2013-12-03