Incidental Mutation 'IGL03190:Klk1b26'
ID412602
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klk1b26
Ensembl Gene ENSMUSG00000053719
Gene Namekallikrein 1-related petidase b26
SynonymsEGF-BP type B, Egfbp2, PRECE-2, Klk26, mGK-26
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.049) question?
Stock #IGL03190
Quality Score
Status
Chromosome7
Chromosomal Location44012168-44016968 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 44012727 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 3 (F3S)
Ref Sequence ENSEMBL: ENSMUSP00000047488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048945]
Predicted Effect possibly damaging
Transcript: ENSMUST00000048945
AA Change: F3S

PolyPhen 2 Score 0.757 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000047488
Gene: ENSMUSG00000053719
AA Change: F3S

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 24 253 2.29e-92 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206650
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the kallikrein subfamily of the peptidase S1 family of serine proteases. The kallikrein genes are present in a large gene cluster on chromosome 7. The encoded preproprotein is proteolytically processed to generate a mature protein product. Expression of this gene in the submandibular gland is sexually dimorphic likely due to both transcriptional and post-transcriptional regulation. This gene is thought to be distinct from the Egfbp2 gene (Gene ID: 13647), with which it shares 98% identity (PMIDs: 1959648, 9685728), however, it is not clear if both genes are present in all strains of mice. [provided by RefSeq, Sep 2015]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 A T 14: 55,779,053 C314S probably damaging Het
Agr2 T A 12: 35,998,635 I128N probably damaging Het
Akr1c6 T C 13: 4,446,413 I91T possibly damaging Het
Ankrd45 A G 1: 161,163,339 I221V probably benign Het
Armc3 A T 2: 19,288,950 L517F probably damaging Het
Atp13a3 A T 16: 30,322,948 M1129K probably benign Het
Atp6v0a4 T A 6: 38,054,556 Q670L probably benign Het
Bank1 T C 3: 136,100,424 Y483C probably damaging Het
Bcan A T 3: 87,993,050 probably benign Het
Bcl11a G A 11: 24,158,333 E104K probably benign Het
Clasp2 C T 9: 113,844,140 Q368* probably null Het
Clcn1 T A 6: 42,290,103 Y71N probably benign Het
Cul2 C T 18: 3,429,634 T498I possibly damaging Het
Fam205a1 C A 4: 42,848,362 G1265C probably benign Het
Fat4 A G 3: 38,981,241 D3014G probably damaging Het
Flnc T C 6: 29,445,637 probably benign Het
Il1f9 C A 2: 24,187,260 S28* probably null Het
Itgb3bp A G 4: 99,789,686 probably benign Het
Itm2b G A 14: 73,365,789 P120L probably damaging Het
Lin52 T C 12: 84,457,958 V39A probably damaging Het
Magt1 A C X: 105,989,016 N242K probably benign Het
Nos3 A G 5: 24,383,629 M1118V probably damaging Het
Olfr341 A T 2: 36,479,722 M136K probably damaging Het
Olfr420 T C 1: 174,159,544 V257A probably damaging Het
Paqr5 A C 9: 61,972,802 L56R probably damaging Het
Pcdhb16 T C 18: 37,479,343 F452S probably damaging Het
Prdm5 T A 6: 65,856,132 probably benign Het
Rps6ka5 A G 12: 100,558,648 probably benign Het
Slc22a5 A G 11: 53,875,014 F249L probably benign Het
Ttll2 T C 17: 7,351,380 K383E probably benign Het
Ube2o G A 11: 116,545,128 P353L probably damaging Het
Vmn1r63 T C 7: 5,803,111 D174G probably benign Het
Vmn2r82 A G 10: 79,356,809 probably null Het
Xpnpep2 T A X: 48,118,328 probably benign Het
Zfp352 T A 4: 90,223,757 S45T possibly damaging Het
Zfp811 A G 17: 32,798,881 probably benign Het
Zfyve19 G A 2: 119,216,236 A304T probably damaging Het
Other mutations in Klk1b26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00578:Klk1b26 APN 7 44016885 missense probably benign 0.00
IGL02179:Klk1b26 APN 7 44016312 missense probably benign
R0391:Klk1b26 UTSW 7 44012727 missense probably damaging 1.00
R0483:Klk1b26 UTSW 7 44016348 missense probably benign 0.15
R1499:Klk1b26 UTSW 7 44016386 missense probably benign 0.22
R1549:Klk1b26 UTSW 7 44016402 splice site probably benign
R1991:Klk1b26 UTSW 7 44016900 missense probably damaging 0.99
R2103:Klk1b26 UTSW 7 44016900 missense probably damaging 0.99
R2998:Klk1b26 UTSW 7 44016798 missense probably benign 0.26
R3414:Klk1b26 UTSW 7 44016873 missense probably benign
R4990:Klk1b26 UTSW 7 44016249 splice site probably null
R4991:Klk1b26 UTSW 7 44016249 splice site probably null
R5527:Klk1b26 UTSW 7 44012763 missense probably benign 0.00
R5796:Klk1b26 UTSW 7 44016328 missense probably damaging 1.00
R6816:Klk1b26 UTSW 7 44016868 missense probably benign 0.00
R6938:Klk1b26 UTSW 7 44016294 missense probably benign 0.00
R7197:Klk1b26 UTSW 7 44016397 critical splice donor site probably null
R7243:Klk1b26 UTSW 7 44016267 missense not run
R7243:Klk1b26 UTSW 7 44016913 missense probably damaging 1.00
R7253:Klk1b26 UTSW 7 44014789 missense possibly damaging 0.66
R7423:Klk1b26 UTSW 7 44014769 missense probably damaging 0.99
R8270:Klk1b26 UTSW 7 44016120 missense probably benign 0.08
R8342:Klk1b26 UTSW 7 44016084 missense probably damaging 0.98
Z1088:Klk1b26 UTSW 7 44015996 missense probably benign
Posted On2016-08-02