Incidental Mutation 'R8185:Klk1b11'
ID 634820
Institutional Source Beutler Lab
Gene Symbol Klk1b11
Ensembl Gene ENSMUSG00000044485
Gene Name kallikrein 1-related peptidase b11
Synonyms mGK-11, Klk11
MMRRC Submission 067608-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R8185 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 43645301-43649299 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43426332 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 49 (I49T)
Ref Sequence ENSEMBL: ENSMUSP00000079101 (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 damaging
Transcript: ENSMUST00000080211
AA Change: I49T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079101
Gene: ENSMUSG00000067616
AA Change: I49T

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 damaging
Transcript: ENSMUST00000171458
AA Change: I22T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132721
Gene: ENSMUSG00000067616
AA Change: I22T

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 20 242 5.14e-95 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik T C 5: 88,120,011 (GRCm39) V256A possibly damaging Het
Ackr3 G A 1: 90,141,666 (GRCm39) V42M probably benign Het
C9 T A 15: 6,520,878 (GRCm39) I441N probably damaging Het
Cd44 G A 2: 102,654,665 (GRCm39) A667V possibly damaging Het
Cdc23 T C 18: 34,774,197 (GRCm39) N322D probably benign Het
Chrm2 A G 6: 36,500,824 (GRCm39) N227S probably benign Het
Cnot1 C T 8: 96,487,979 (GRCm39) R559Q probably damaging Het
Cntnap4 A G 8: 113,391,897 (GRCm39) N121D probably damaging Het
Cog7 A G 7: 121,576,969 (GRCm39) L63P probably damaging Het
Cpne7 C T 8: 123,854,168 (GRCm39) A285V probably benign Het
Cpsf7 C T 19: 10,514,224 (GRCm39) R343* probably null Het
Cubn T G 2: 13,299,129 (GRCm39) K3181N probably benign Het
Dsg1a C T 18: 20,473,669 (GRCm39) T914I probably damaging Het
Ebf3 A T 7: 136,827,607 (GRCm39) C255S possibly damaging Het
Eif1ad5 T A 12: 87,940,433 (GRCm39) W46R noncoding transcript Het
Fasn A T 11: 120,702,969 (GRCm39) I1658N probably benign Het
Fcgr2b A G 1: 170,794,020 (GRCm39) V210A probably damaging Het
Flvcr1 G A 1: 190,747,681 (GRCm39) P305S probably damaging Het
Frem3 G T 8: 81,338,933 (GRCm39) E409* probably null Het
Gabrr2 T A 4: 33,082,330 (GRCm39) D213E probably damaging Het
Ggt1 T A 10: 75,421,040 (GRCm39) D418E possibly damaging Het
Immt C T 6: 71,849,835 (GRCm39) Q530* probably null Het
Ints10 T C 8: 69,249,370 (GRCm39) F67L possibly damaging Het
Kdm4c C T 4: 74,291,821 (GRCm39) H813Y probably benign Het
Klhl5 T A 5: 65,313,471 (GRCm39) M395K probably damaging Het
Lmln A T 16: 32,909,690 (GRCm39) N357I probably damaging Het
Lpar1 A T 4: 58,486,509 (GRCm39) M254K probably damaging Het
Macc1 T C 12: 119,410,894 (GRCm39) V554A probably damaging Het
Melk G A 4: 44,360,965 (GRCm39) V582I probably benign Het
Mmp27 A G 9: 7,573,492 (GRCm39) T195A unknown Het
Nedd4l T C 18: 65,342,769 (GRCm39) F781L probably damaging Het
Nvl G A 1: 180,971,739 (GRCm39) probably benign Het
Nxpe4 G A 9: 48,304,509 (GRCm39) D199N possibly damaging Het
Or2k2 T C 4: 58,785,542 (GRCm39) Y60C probably damaging Het
Or8b8 A C 9: 37,809,531 (GRCm39) Y277S probably damaging Het
Ovol1 T C 19: 5,601,542 (GRCm39) D160G probably damaging Het
Ppp1r13l C T 7: 19,106,863 (GRCm39) P453S probably benign Het
Ppp1r37 C T 7: 19,266,873 (GRCm39) G373S probably damaging Het
Slc7a9 T C 7: 35,151,842 (GRCm39) S46P probably damaging Het
Sntn A G 14: 13,679,014 (GRCm38) I63V probably benign Het
Syde2 T C 3: 145,694,667 (GRCm39) V305A probably benign Het
Tpp1 A T 7: 105,398,430 (GRCm39) probably null Het
Vmn1r179 A T 7: 23,628,163 (GRCm39) N118I possibly damaging Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null 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
R0326:Klk1b11 UTSW 7 43,425,943 (GRCm39) start codon destroyed probably null 0.01
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
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'- AGGACAGCCACTAATGACCTG -3'
(R):5'- TCCAGTCTGATCATCCATGC -3'

Sequencing Primer
(F):5'- CCTGGAAGTATAGTCTTATGCCAGC -3'
(R):5'- GTCTGATCATCCATGCTAACACC -3'
Posted On 2020-07-13