Incidental Mutation 'IGL00578:Klk1b26'
ID5268
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: 0.050) question?
Stock #IGL00578
Quality Score
Status
Chromosome7
Chromosomal Location44012168-44016968 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 44016885 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 251 (S251P)
Ref Sequence ENSEMBL: ENSMUSP00000047488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048945]
Predicted Effect probably benign
Transcript: ENSMUST00000048945
AA Change: S251P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000047488
Gene: ENSMUSG00000053719
AA Change: S251P

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 24 253 2.29e-92 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205780
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aebp1 A G 11: 5,871,787 T729A possibly damaging Het
Ank3 C A 10: 70,002,394 S864Y possibly damaging Het
Ankrd44 G A 1: 54,662,647 probably benign Het
Atp11c C T X: 60,240,817 G996R probably damaging Het
AW549877 C A 15: 3,988,636 G186C probably damaging Het
Col11a1 A G 3: 114,194,106 T250A possibly damaging Het
Cox8a T A 19: 7,215,405 Y65F probably damaging Het
Ctnnd1 G T 2: 84,609,625 N451K probably damaging Het
D630045J12Rik T C 6: 38,194,930 T768A probably benign Het
Esyt1 A G 10: 128,511,743 S999P probably damaging Het
Fyco1 A G 9: 123,838,897 I88T probably damaging Het
Kdm2b A G 5: 122,961,567 V103A probably damaging Het
Krtap16-1 A G 11: 99,985,295 S428P probably benign Het
Lrp1b C T 2: 40,679,173 V210I unknown Het
Mapk8ip3 A T 17: 24,900,819 D1018E probably damaging Het
Nxph2 T A 2: 23,400,322 C229S probably damaging Het
Prickle1 A G 15: 93,500,781 L722P probably benign Het
Rbm12 A T 2: 156,096,041 probably benign Het
Sfpq T C 4: 127,025,907 Y482H probably damaging Het
Sycp2 T C 2: 178,350,822 probably benign Het
Unc5b A G 10: 60,767,055 I866T probably damaging Het
Other mutations in Klk1b26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02179:Klk1b26 APN 7 44016312 missense probably benign
IGL03190:Klk1b26 APN 7 44012727 missense possibly damaging 0.76
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 On2012-04-20