Incidental Mutation 'R6816:Klk1b26'
ID 537330
Institutional Source Beutler Lab
Gene Symbol Klk1b26
Ensembl Gene ENSMUSG00000053719
Gene Name kallikrein 1-related petidase b26
Synonyms Egfbp2, Klk26, EGF-BP type B, mGK-26, PRECE-2
MMRRC Submission 044928-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.053) question?
Stock # R6816 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 43662102-43666393 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43666292 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 245 (N245S)
Ref Sequence ENSEMBL: ENSMUSP00000047488 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048945]
AlphaFold P36369
Predicted Effect probably benign
Transcript: ENSMUST00000048945
AA Change: N245S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000047488
Gene: ENSMUSG00000053719
AA Change: N245S

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 24 253 2.29e-92 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 96% (49/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg5 A G 8: 95,668,311 (GRCm39) T458A probably damaging Het
Ajm1 C CTCTA 2: 25,469,733 (GRCm39) probably null Het
Ankrd36 T G 11: 5,593,765 (GRCm39) F457V possibly damaging Het
Cep152 T C 2: 125,436,947 (GRCm39) E531G probably damaging Het
Dpf1 A C 7: 29,011,087 (GRCm39) D162A possibly damaging Het
E2f8 A T 7: 48,525,331 (GRCm39) Y214N possibly damaging Het
Fer1l5 A T 1: 36,445,591 (GRCm39) Y786F possibly damaging Het
Fhod1 G T 8: 106,057,176 (GRCm39) Q933K probably benign Het
Gdap2 T C 3: 100,099,021 (GRCm39) probably null Het
Grin2d A G 7: 45,483,106 (GRCm39) probably benign Het
H2bc22 C T 13: 21,971,947 (GRCm39) S88L probably benign Het
Hgs T A 11: 120,362,397 (GRCm39) V112D probably damaging Het
Igf2r A T 17: 12,932,969 (GRCm39) V851E probably damaging Het
Igfn1 T A 1: 135,887,466 (GRCm39) T2533S probably benign Het
Iqch C T 9: 63,388,041 (GRCm39) V750I probably benign Het
Itih2 A G 2: 10,110,517 (GRCm39) Y525H probably damaging Het
Kcnu1 C T 8: 26,427,762 (GRCm39) Q360* probably null Het
Kmt2c T C 5: 25,610,530 (GRCm39) probably null Het
Lhpp T C 7: 132,235,762 (GRCm39) S116P probably benign Het
Madcam1 A G 10: 79,501,274 (GRCm39) D113G probably damaging Het
Magi3 A T 3: 103,997,227 (GRCm39) probably null Het
Map3k9 A G 12: 81,769,028 (GRCm39) S1007P possibly damaging Het
Mkrn2 C T 6: 115,588,689 (GRCm39) P144L probably damaging Het
Mon1a T C 9: 107,777,609 (GRCm39) S171P probably damaging Het
Nrarp T C 2: 25,071,319 (GRCm39) L66P probably damaging Het
P2ry1 T A 3: 60,911,253 (GRCm39) F131I probably benign Het
Pdzk1 A G 3: 96,761,886 (GRCm39) Q166R probably benign Het
Pigt G T 2: 164,343,052 (GRCm39) V249F probably damaging Het
Ppp1r16b G T 2: 158,603,595 (GRCm39) V407L probably benign Het
Pramel58 A T 5: 94,831,773 (GRCm39) Q260L possibly damaging Het
Rab6a G T 7: 100,279,080 (GRCm39) E73D probably damaging Het
Ralb C A 1: 119,405,712 (GRCm39) G33* probably null Het
Sema3b T A 9: 107,477,549 (GRCm39) M491L probably benign Het
Sema3c A C 5: 17,875,463 (GRCm39) D40A probably benign Het
Slc22a1 T C 17: 12,871,370 (GRCm39) N464D possibly damaging Het
Spire2 T A 8: 124,086,152 (GRCm39) S295T probably benign Het
Stat3 T G 11: 100,802,093 (GRCm39) Q32P probably damaging Het
Sulf2 T C 2: 165,924,674 (GRCm39) T471A probably benign Het
Sult2b1 A G 7: 45,383,102 (GRCm39) W227R probably damaging Het
Syt2 T A 1: 134,673,538 (GRCm39) I294N probably damaging Het
Taar8b A T 10: 23,968,079 (GRCm39) F38L probably benign Het
Tbl2 T A 5: 135,188,069 (GRCm39) probably null Het
Tex48 G A 4: 63,530,192 (GRCm39) S9L probably damaging Het
Tmprss2 A T 16: 97,369,667 (GRCm39) M369K possibly damaging Het
Trip12 A T 1: 84,771,435 (GRCm39) S280T probably damaging Het
Tspoap1 T C 11: 87,656,491 (GRCm39) V263A probably benign Het
Vmn2r74 T A 7: 85,610,621 (GRCm39) R24* probably null Het
Wdr35 G A 12: 9,077,724 (GRCm39) probably null Het
Zfp202 A G 9: 40,123,109 (GRCm39) R624G probably damaging Het
Other mutations in Klk1b26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00578:Klk1b26 APN 7 43,666,309 (GRCm39) missense probably benign 0.00
IGL02179:Klk1b26 APN 7 43,665,736 (GRCm39) missense probably benign
IGL03190:Klk1b26 APN 7 43,662,151 (GRCm39) missense possibly damaging 0.76
R0391:Klk1b26 UTSW 7 43,662,151 (GRCm39) missense probably damaging 1.00
R0483:Klk1b26 UTSW 7 43,665,772 (GRCm39) missense probably benign 0.15
R1499:Klk1b26 UTSW 7 43,665,810 (GRCm39) missense probably benign 0.22
R1549:Klk1b26 UTSW 7 43,665,826 (GRCm39) splice site probably benign
R1991:Klk1b26 UTSW 7 43,666,324 (GRCm39) missense probably damaging 0.99
R2103:Klk1b26 UTSW 7 43,666,324 (GRCm39) missense probably damaging 0.99
R2998:Klk1b26 UTSW 7 43,666,222 (GRCm39) missense probably benign 0.26
R3414:Klk1b26 UTSW 7 43,666,297 (GRCm39) missense probably benign
R4990:Klk1b26 UTSW 7 43,665,673 (GRCm39) splice site probably null
R4991:Klk1b26 UTSW 7 43,665,673 (GRCm39) splice site probably null
R5527:Klk1b26 UTSW 7 43,662,187 (GRCm39) missense probably benign 0.00
R5796:Klk1b26 UTSW 7 43,665,752 (GRCm39) missense probably damaging 1.00
R6938:Klk1b26 UTSW 7 43,665,718 (GRCm39) missense probably benign 0.00
R7197:Klk1b26 UTSW 7 43,665,821 (GRCm39) critical splice donor site probably null
R7243:Klk1b26 UTSW 7 43,666,337 (GRCm39) missense probably damaging 1.00
R7243:Klk1b26 UTSW 7 43,665,691 (GRCm39) missense not run
R7253:Klk1b26 UTSW 7 43,664,213 (GRCm39) missense possibly damaging 0.66
R7423:Klk1b26 UTSW 7 43,664,193 (GRCm39) missense probably damaging 0.99
R8270:Klk1b26 UTSW 7 43,665,544 (GRCm39) missense probably benign 0.08
R8342:Klk1b26 UTSW 7 43,665,508 (GRCm39) missense probably damaging 0.98
Z1088:Klk1b26 UTSW 7 43,665,420 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCTGTATTAATCGCCTTGGGAATC -3'
(R):5'- CATGTACACCTGTCCCTAGC -3'

Sequencing Primer
(F):5'- CAGTTCCAGGTGGTCTACTAGAATC -3'
(R):5'- ACTTTGGAAGTCCTGACCTTAG -3'
Posted On 2018-10-18