Incidental Mutation 'R0326:Klk1b11'
ID 25835
Institutional Source Beutler Lab
Gene Symbol Klk1b11
Ensembl Gene ENSMUSG00000044485
Gene Name kallikrein 1-related peptidase b11
Synonyms mGK-11, Klk11
MMRRC Submission 038536-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R0326 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 43645301-43649299 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 43425943 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000132721 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014058] [ENSMUST00000014063] [ENSMUST00000080211] [ENSMUST00000107970] [ENSMUST00000171458]
AlphaFold P15946
Predicted Effect probably benign
Transcript: ENSMUST00000014058
SMART Domains Protein: ENSMUSP00000014058
Gene: ENSMUSG00000030693

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Tryp_SPc 46 271 1.35e-71 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000014063
SMART Domains Protein: ENSMUSP00000014063
Gene: ENSMUSG00000044430

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 21 240 1.3e-91 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000080211
AA Change: M28K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000079101
Gene: ENSMUSG00000067616
AA Change: M28K

DomainStartEndE-ValueType
low complexity region 22 37 N/A INTRINSIC
Tryp_SPc 47 269 5.14e-95 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107970
SMART Domains Protein: ENSMUSP00000103604
Gene: ENSMUSG00000044430

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 21 240 1.3e-91 SMART
Predicted Effect probably null
Transcript: ENSMUST00000171458
AA Change: M1K

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000132721
Gene: ENSMUSG00000067616
AA Change: M1K

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 20 242 5.14e-95 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181454
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205415
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205566
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.8%
  • 20x: 91.8%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the kallikrein subfamily of serine proteases that are involved in diverse physiological functions such as skin desquamation, tooth enamel formation, seminal liquefaction, synaptic neural plasticity and brain function. The encoded preproprotein undergoes proteolytic cleavage of the activation peptide to generate the functional enzyme. This gene is located in a cluster of several related kallikrein genes on chromosome 7. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 C T 1: 130,670,635 (GRCm39) P286S possibly damaging Het
Aagab T A 9: 63,526,444 (GRCm39) S156T probably damaging Het
Abca14 T G 7: 119,823,642 (GRCm39) Y390D probably damaging Het
Abcc2 T A 19: 43,814,386 (GRCm39) I1122N possibly damaging Het
Adamts16 T C 13: 70,927,730 (GRCm39) E503G possibly damaging Het
Adamts9 A T 6: 92,835,038 (GRCm39) C697* probably null Het
Adgrv1 T C 13: 81,623,112 (GRCm39) D3837G possibly damaging Het
Ahcyl T A 16: 45,974,246 (GRCm39) D377V probably benign Het
Aire T A 10: 77,878,433 (GRCm39) R128S probably damaging Het
Alkbh2 A C 5: 114,262,011 (GRCm39) *240E probably null Het
Als2 T C 1: 59,219,742 (GRCm39) Y1191C probably damaging Het
Anapc5 A T 5: 122,952,667 (GRCm39) V186E probably benign Het
Apob C T 12: 8,040,307 (GRCm39) A548V probably damaging Het
B3galt4 A T 17: 34,169,722 (GRCm39) V172E probably damaging Het
Bbs7 A C 3: 36,646,525 (GRCm39) C432G possibly damaging Het
Cacna2d3 T A 14: 28,767,601 (GRCm39) E758V probably damaging Het
Cactin T G 10: 81,158,496 (GRCm39) L154R probably benign Het
Ccdc88a A C 11: 29,411,021 (GRCm39) R502S probably benign Het
Ccnf A T 17: 24,450,784 (GRCm39) I398N possibly damaging Het
Chd1 A T 17: 15,988,828 (GRCm39) D1527V probably damaging Het
Chd1 A T 17: 15,988,830 (GRCm39) M1528L probably benign Het
Chrac1 G A 15: 72,964,675 (GRCm39) probably null Het
Cln3 T G 7: 126,182,217 (GRCm39) M1L probably damaging Het
Cnot6 T C 11: 49,568,263 (GRCm39) Y442C probably damaging Het
Col19a1 A T 1: 24,324,132 (GRCm39) probably null Het
Col1a2 T C 6: 4,537,838 (GRCm39) F1116L unknown Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cops4 T G 5: 100,676,408 (GRCm39) V53G probably damaging Het
Crnkl1 A G 2: 145,761,875 (GRCm39) S561P probably benign Het
Ctnnb1 C A 9: 120,780,778 (GRCm39) Q99K probably benign Het
Cxcr5 T C 9: 44,424,578 (GRCm39) S360G probably benign Het
Dab2 G A 15: 6,447,797 (GRCm39) V60M probably damaging Het
Ddx3y A T Y: 1,263,321 (GRCm39) Y648* probably null Het
Dennd2a T A 6: 39,474,044 (GRCm39) D430V probably damaging Het
Dsp G T 13: 38,376,846 (GRCm39) E1544* probably null Het
Efcab7 A T 4: 99,719,631 (GRCm39) M38L possibly damaging Het
Fto A G 8: 92,136,155 (GRCm39) N141S probably damaging Het
Gabrp A G 11: 33,504,362 (GRCm39) F318L probably damaging Het
Gmeb1 A C 4: 131,969,663 (GRCm39) C103W probably damaging Het
Heatr9 T C 11: 83,405,365 (GRCm39) D365G probably damaging Het
Hif3a G A 7: 16,778,325 (GRCm39) R436W probably benign Het
Hint2 A G 4: 43,654,378 (GRCm39) V145A probably damaging Het
Hmcn2 T A 2: 31,313,237 (GRCm39) L3482* probably null Het
Hsd3b1 A T 3: 98,760,590 (GRCm39) Y134N probably damaging Het
Impg2 T A 16: 56,080,848 (GRCm39) V775E probably damaging Het
Ipo5 A G 14: 121,159,635 (GRCm39) I154M probably benign Het
Itgad T A 7: 127,797,550 (GRCm39) F893Y probably benign Het
Itprid1 A T 6: 55,875,228 (GRCm39) M393L possibly damaging Het
Kdm4a T C 4: 118,018,903 (GRCm39) R438G probably benign Het
Lama5 A T 2: 179,824,219 (GRCm39) V2602D possibly damaging Het
Lrch3 T C 16: 32,799,870 (GRCm39) S35P probably damaging Het
Mfn2 A G 4: 147,967,745 (GRCm39) L441P probably damaging Het
Mgat4c A T 10: 102,224,565 (GRCm39) I260F probably damaging Het
Mon1b T A 8: 114,364,375 (GRCm39) S51T probably benign Het
Myh11 T C 16: 14,036,744 (GRCm39) D993G probably benign Het
Myo1a A G 10: 127,552,166 (GRCm39) N762D probably benign Het
Nacc2 A T 2: 25,950,345 (GRCm39) Y464N probably damaging Het
Nckap1 A G 2: 80,383,714 (GRCm39) I150T probably benign Het
Ndufv2 G T 17: 66,387,816 (GRCm39) P119T probably damaging Het
Noc4l G A 5: 110,800,241 (GRCm39) R95* probably null Het
Ntng1 A T 3: 110,042,819 (GRCm39) Y2* probably null Het
Oog4 T C 4: 143,165,773 (GRCm39) N53D probably benign Het
Or10ak11 A T 4: 118,687,022 (GRCm39) V205D possibly damaging Het
Or4d11 C T 19: 12,013,525 (GRCm39) V194I probably benign Het
Or6c6c A G 10: 129,541,638 (GRCm39) E297G possibly damaging Het
Or9i1b C T 19: 13,896,873 (GRCm39) T163I probably benign Het
Phkg2 T G 7: 127,173,075 (GRCm39) L11R probably damaging Het
Pogz A G 3: 94,777,424 (GRCm39) D368G probably damaging Het
Prex2 T A 1: 11,355,289 (GRCm39) L1530Q probably damaging Het
Prmt1 C T 7: 44,628,878 (GRCm39) E144K probably damaging Het
Prss8 T A 7: 127,526,348 (GRCm39) I121F probably benign Het
Psmd13 T C 7: 140,477,624 (GRCm39) L314P probably damaging Het
Ptch2 G A 4: 116,966,081 (GRCm39) G467D probably damaging Het
Rbm20 C A 19: 53,852,596 (GRCm39) P1192Q probably damaging Het
Rpl19 T A 11: 97,919,200 (GRCm39) D45E probably benign Het
Rsph10b C T 5: 143,903,946 (GRCm39) A219V probably damaging Het
Rtraf C T 14: 19,864,600 (GRCm39) probably null Het
Scaf1 T A 7: 44,658,175 (GRCm39) T235S probably damaging Het
Shank1 T A 7: 43,968,594 (GRCm39) C296S unknown Het
Slc39a7 A T 17: 34,247,924 (GRCm39) V426D probably damaging Het
Slc41a2 A T 10: 83,119,610 (GRCm39) V384D probably damaging Het
Slco1c1 T C 6: 141,505,499 (GRCm39) L475P probably benign Het
Slco6d1 A C 1: 98,418,359 (GRCm39) K515T probably benign Het
Sos2 T C 12: 69,682,459 (GRCm39) E253G probably damaging Het
Sp6 G T 11: 96,912,361 (GRCm39) D25Y possibly damaging Het
Syt11 A C 3: 88,669,855 (GRCm39) D12E possibly damaging Het
Taf2 A G 15: 54,910,856 (GRCm39) L606P probably damaging Het
Tbc1d5 A G 17: 51,273,764 (GRCm39) Y116H probably damaging Het
Tnfrsf8 A G 4: 145,015,029 (GRCm39) I243T possibly damaging Het
Tnxb A G 17: 34,917,153 (GRCm39) S2183G probably benign Het
Trim66 T C 7: 109,059,379 (GRCm39) Y853C probably benign Het
Ttn T A 2: 76,567,839 (GRCm39) T27685S probably damaging Het
Ttn T C 2: 76,573,466 (GRCm39) E25809G probably damaging Het
Uvssa G A 5: 33,566,191 (GRCm39) G445S probably benign Het
Zfp326 T C 5: 106,058,141 (GRCm39) S427P probably damaging Het
Zfp592 A G 7: 80,674,637 (GRCm39) T534A possibly damaging Het
Zfp672 A G 11: 58,207,173 (GRCm39) S383P possibly damaging Het
Zfp799 A G 17: 33,039,700 (GRCm39) S188P possibly damaging Het
Zyg11b A C 4: 108,129,450 (GRCm39) V54G possibly damaging Het
Other mutations in Klk1b11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00565:Klk1b11 APN 7 43,649,243 (GRCm39) missense probably damaging 1.00
IGL01501:Klk1b11 APN 7 43,649,258 (GRCm39) utr 3 prime probably benign
IGL02054:Klk1b11 APN 7 43,648,251 (GRCm39) missense possibly damaging 0.90
IGL02267:Klk1b11 APN 7 43,649,165 (GRCm39) missense probably damaging 1.00
IGL02900:Klk1b11 APN 7 43,427,837 (GRCm39) missense probably damaging 0.97
IGL03090:Klk1b11 APN 7 43,426,977 (GRCm39) missense probably benign 0.00
aceto UTSW 7 43,424,198 (GRCm39) missense probably benign 0.18
sotto UTSW 7 43,428,336 (GRCm39) missense probably damaging 0.99
R0125:Klk1b11 UTSW 7 43,648,475 (GRCm39) missense probably benign 0.10
R0449:Klk1b11 UTSW 7 43,647,216 (GRCm39) missense probably damaging 1.00
R0708:Klk1b11 UTSW 7 43,647,152 (GRCm39) missense possibly damaging 0.59
R1370:Klk1b11 UTSW 7 43,426,331 (GRCm39) missense probably benign 0.03
R1503:Klk1b11 UTSW 7 43,428,333 (GRCm39) nonsense probably null
R1812:Klk1b11 UTSW 7 43,427,179 (GRCm39) critical splice donor site probably null
R3003:Klk1b11 UTSW 7 43,426,419 (GRCm39) missense probably damaging 0.99
R4361:Klk1b11 UTSW 7 43,645,378 (GRCm39) splice site probably null
R4452:Klk1b11 UTSW 7 43,645,335 (GRCm39) missense probably damaging 0.96
R4974:Klk1b11 UTSW 7 43,427,160 (GRCm39) missense probably damaging 0.98
R5120:Klk1b11 UTSW 7 43,648,446 (GRCm39) missense probably benign 0.29
R5214:Klk1b11 UTSW 7 43,647,266 (GRCm39) missense probably benign 0.02
R5219:Klk1b11 UTSW 7 43,649,120 (GRCm39) missense probably damaging 1.00
R5654:Klk1b11 UTSW 7 43,427,810 (GRCm39) missense probably damaging 1.00
R5730:Klk1b11 UTSW 7 43,424,199 (GRCm39) missense probably benign 0.33
R6348:Klk1b11 UTSW 7 43,647,275 (GRCm39) critical splice donor site probably null
R6602:Klk1b11 UTSW 7 43,424,198 (GRCm39) missense probably benign 0.18
R6803:Klk1b11 UTSW 7 43,647,261 (GRCm39) missense probably damaging 1.00
R6834:Klk1b11 UTSW 7 43,428,336 (GRCm39) missense probably damaging 0.99
R7065:Klk1b11 UTSW 7 43,648,386 (GRCm39) missense probably benign 0.22
R7172:Klk1b11 UTSW 7 43,648,671 (GRCm39) missense possibly damaging 0.92
R7310:Klk1b11 UTSW 7 43,428,254 (GRCm39) missense probably damaging 0.99
R7741:Klk1b11 UTSW 7 43,426,421 (GRCm39) missense probably benign 0.03
R8185:Klk1b11 UTSW 7 43,426,332 (GRCm39) missense probably damaging 1.00
R8336:Klk1b11 UTSW 7 43,425,865 (GRCm39) start gained probably benign
R8389:Klk1b11 UTSW 7 43,649,120 (GRCm39) missense probably damaging 1.00
R8798:Klk1b11 UTSW 7 43,645,372 (GRCm39) missense probably benign 0.00
R9090:Klk1b11 UTSW 7 43,425,954 (GRCm39) missense probably benign 0.00
R9104:Klk1b11 UTSW 7 43,427,875 (GRCm39) unclassified probably benign
R9144:Klk1b11 UTSW 7 43,427,055 (GRCm39) missense probably damaging 0.96
R9213:Klk1b11 UTSW 7 43,648,428 (GRCm39) missense possibly damaging 0.84
R9271:Klk1b11 UTSW 7 43,425,954 (GRCm39) missense probably benign 0.00
R9604:Klk1b11 UTSW 7 43,427,850 (GRCm39) missense
Z1177:Klk1b11 UTSW 7 43,427,759 (GRCm39) missense possibly damaging 0.58
Predicted Primers PCR Primer
(F):5'- AAGCCACTCTGGAAGCACAAGG -3'
(R):5'- ACAGAGAAGCCGTGTCTTCTGAAAG -3'

Sequencing Primer
(F):5'- TGAGAACCAGGAGGTTCCC -3'
(R):5'- GCTGGCATAAGACTATACTTCCAGG -3'
Posted On 2013-04-16