Incidental Mutation 'R7164:Klk4'
ID 557801
Institutional Source Beutler Lab
Gene Symbol Klk4
Ensembl Gene ENSMUSG00000006948
Gene Name kallikrein related-peptidase 4 (prostase, enamel matrix, prostate)
Synonyms ESMP1, KLK-L1, Prss17
MMRRC Submission 045331-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7164 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 43530584-43535228 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43531122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 17 (I17T)
Ref Sequence ENSEMBL: ENSMUSP00000007161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007161]
AlphaFold Q9Z0M1
Predicted Effect possibly damaging
Transcript: ENSMUST00000007161
AA Change: I17T

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000007161
Gene: ENSMUSG00000006948
AA Change: I17T

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Tryp_SPc 31 248 2.42e-82 SMART
Meta Mutation Damage Score 0.0810 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. In some tissues its expression is hormonally regulated. The expression pattern of a similar mouse protein in murine developing teeth supports a role for the protein in the degradation of enamel proteins. Several transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit reduced enamel strength that leads to enamel fracturing, delayed postnatal growth, and decreased survival to maturity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn2 G A 13: 12,293,847 (GRCm39) H558Y probably damaging Het
Ajm1 T A 2: 25,468,579 (GRCm39) H444L possibly damaging Het
Akap9 G C 5: 4,110,364 (GRCm39) E3022D probably damaging Het
Anapc2 C T 2: 25,175,011 (GRCm39) R710C probably damaging Het
Bcl6 G A 16: 23,784,976 (GRCm39) R675* probably null Het
Carmil3 A G 14: 55,738,739 (GRCm39) E844G probably damaging Het
Cdk17 T G 10: 93,068,343 (GRCm39) S367A probably benign Het
Cfap206 T A 4: 34,719,656 (GRCm39) M253L probably benign Het
Chd3 T G 11: 69,253,132 (GRCm39) K228Q probably damaging Het
Cit T A 5: 116,123,846 (GRCm39) I1503N possibly damaging Het
Csn1s1 A G 5: 87,822,087 (GRCm39) N119S possibly damaging Het
Czib C A 4: 107,752,087 (GRCm39) D155E not run Het
Degs1 A G 1: 182,106,690 (GRCm39) S226P probably damaging Het
Espl1 T C 15: 102,221,638 (GRCm39) W976R probably damaging Het
Fbxl4 C T 4: 22,386,218 (GRCm39) P275L probably benign Het
Flnb A G 14: 7,915,944 (GRCm38) probably null Het
Gnptab T A 10: 88,269,932 (GRCm39) Y878* probably null Het
Gpr89 A T 3: 96,778,714 (GRCm39) M453K probably benign Het
Igsf5 A T 16: 96,174,048 (GRCm39) Q26L possibly damaging Het
Inpp5e T A 2: 26,297,995 (GRCm39) D202V possibly damaging Het
Itga3 C T 11: 94,943,305 (GRCm39) V931M possibly damaging Het
Kcnab3 T C 11: 69,222,184 (GRCm39) probably null Het
Lrrc73 T C 17: 46,567,169 (GRCm39) L206P probably damaging Het
Manba A T 3: 135,248,149 (GRCm39) N346I probably damaging Het
Map4k4 T C 1: 40,013,132 (GRCm39) Y76H possibly damaging Het
Map4k5 T C 12: 69,877,210 (GRCm39) T312A probably benign Het
Masp2 A G 4: 148,694,572 (GRCm39) probably null Het
Mast1 T C 8: 85,661,933 (GRCm39) D63G possibly damaging Het
Mtf2 T A 5: 108,241,235 (GRCm39) S254T possibly damaging Het
Myo16 A T 8: 10,619,585 (GRCm39) T1379S unknown Het
Myo5a A G 9: 75,087,435 (GRCm39) E1097G probably benign Het
Nat1 T C 8: 67,944,329 (GRCm39) V238A possibly damaging Het
Nhlrc2 A G 19: 56,580,931 (GRCm39) D493G probably damaging Het
Or10ak9 C T 4: 118,726,922 (GRCm39) P315S probably benign Het
Or1j21 T C 2: 36,683,709 (GRCm39) S154P probably benign Het
Or5ae2 A G 7: 84,506,251 (GRCm39) I227V possibly damaging Het
Or5b108 A T 19: 13,168,270 (GRCm39) M80L probably benign Het
Or5d20-ps1 T C 2: 87,932,176 (GRCm39) K52E probably damaging Het
Or8g51 A G 9: 38,609,515 (GRCm39) I49T possibly damaging Het
Pcsk5 C T 19: 17,429,349 (GRCm39) C1543Y probably damaging Het
Pde4d A G 13: 109,169,222 (GRCm39) D88G probably benign Het
Pld5 A T 1: 176,041,187 (GRCm39) M1K probably null Het
Prmt6 A G 3: 110,157,680 (GRCm39) M203T probably benign Het
Prr14l A T 5: 32,986,510 (GRCm39) V995D probably damaging Het
Psg18 T C 7: 18,084,862 (GRCm39) E199G possibly damaging Het
Pth1r A G 9: 110,552,815 (GRCm39) I439T possibly damaging Het
Ptprc T A 1: 138,045,600 (GRCm39) I87F probably benign Het
Slc44a1 T C 4: 53,528,711 (GRCm39) S154P probably benign Het
Slco1c1 T A 6: 141,487,855 (GRCm39) Y192* probably null Het
Spag16 A G 1: 70,764,025 (GRCm39) H615R possibly damaging Het
Spata31h1 G A 10: 82,122,063 (GRCm39) T3649I probably damaging Het
Tas2r114 G A 6: 131,666,728 (GRCm39) A100V possibly damaging Het
U2af1l4 T C 7: 30,264,544 (GRCm39) S103P probably benign Het
Usp10 T C 8: 120,668,847 (GRCm39) S383P probably damaging Het
Vmn2r113 A G 17: 23,167,137 (GRCm39) R505G probably benign Het
Vmn2r75 A C 7: 85,814,592 (GRCm39) D300E probably damaging Het
Zfp318 T A 17: 46,708,232 (GRCm39) probably null Het
Zfp318 T C 17: 46,716,865 (GRCm39) V999A probably damaging Het
Zfp324 A T 7: 12,702,810 (GRCm39) H58L probably damaging Het
Zfp707 A G 15: 75,846,967 (GRCm39) E339G possibly damaging Het
Other mutations in Klk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0200:Klk4 UTSW 7 43,534,785 (GRCm39) missense probably damaging 1.00
R0385:Klk4 UTSW 7 43,533,432 (GRCm39) missense probably benign 0.02
R1381:Klk4 UTSW 7 43,534,706 (GRCm39) missense probably damaging 1.00
R4329:Klk4 UTSW 7 43,533,830 (GRCm39) missense probably damaging 1.00
R4552:Klk4 UTSW 7 43,533,443 (GRCm39) missense probably benign
R4600:Klk4 UTSW 7 43,534,762 (GRCm39) missense probably damaging 1.00
R6023:Klk4 UTSW 7 43,533,482 (GRCm39) missense probably benign 0.00
R7995:Klk4 UTSW 7 43,533,010 (GRCm39) missense probably damaging 1.00
R9188:Klk4 UTSW 7 43,534,797 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ACCCATCCCTAGATAGATGCTTC -3'
(R):5'- AAGACTGTCTCTCCTTCTCAGG -3'

Sequencing Primer
(F):5'- ATCCCTAGATAGATGCTTCTCCCTC -3'
(R):5'- AGGACCTGTCACCCTTTACAG -3'
Posted On 2019-06-26