Incidental Mutation 'R5470:Klk1b16'
ID 433461
Institutional Source Beutler Lab
Gene Symbol Klk1b16
Ensembl Gene ENSMUSG00000038968
Gene Name kallikrein 1-related peptidase b16
Synonyms mGk-16, Klk16
MMRRC Submission 043031-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R5470 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 43786191-43791034 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43786755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 5 (I5F)
Ref Sequence ENSEMBL: ENSMUSP00000005933 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005933]
AlphaFold P04071
Predicted Effect probably damaging
Transcript: ENSMUST00000005933
AA Change: I5F

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000005933
Gene: ENSMUSG00000038968
AA Change: I5F

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Tryp_SPc 24 253 7.64e-80 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206347
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206376
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.4%
Validation Efficiency 99% (79/80)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T A 12: 80,215,715 (GRCm39) I813F probably damaging Het
Aqr G A 2: 113,988,056 (GRCm39) L169F probably damaging Het
Atp6v1d G A 12: 78,892,058 (GRCm39) R182C probably benign Het
Bcl2l13 G T 6: 120,839,833 (GRCm39) A44S probably benign Het
Brip1 T C 11: 86,039,368 (GRCm39) K389E possibly damaging Het
C530025M09Rik G A 2: 149,673,045 (GRCm39) probably benign Het
Ccdc7b T A 8: 129,799,081 (GRCm39) S53T possibly damaging Het
Chd8 A G 14: 52,450,066 (GRCm39) F154L probably damaging Het
Cop1 A T 1: 159,094,430 (GRCm39) probably benign Het
Cyp2c39 A G 19: 39,501,974 (GRCm39) K121R possibly damaging Het
Cyp3a57 A G 5: 145,309,429 (GRCm39) M256V probably benign Het
Deup1 T C 9: 15,493,916 (GRCm39) probably null Het
Dnah10 A G 5: 124,830,232 (GRCm39) N709D probably benign Het
Dthd1 A G 5: 62,976,109 (GRCm39) Y261C probably damaging Het
Ear-ps2 G A 14: 44,284,517 (GRCm39) noncoding transcript Het
En2 C T 5: 28,371,922 (GRCm39) T133M probably benign Het
Endou A G 15: 97,616,836 (GRCm39) F229S probably damaging Het
Etl4 A T 2: 20,534,791 (GRCm39) H79L probably damaging Het
Fah C T 7: 84,242,393 (GRCm39) probably null Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Fignl1 T A 11: 11,752,640 (GRCm39) E138D probably benign Het
Fndc3a A G 14: 72,812,008 (GRCm39) L311P possibly damaging Het
Gdf9 T A 11: 53,327,581 (GRCm39) V179E probably benign Het
Gm14129 G T 2: 148,769,737 (GRCm39) noncoding transcript Het
Gorab A G 1: 163,220,078 (GRCm39) I188T probably damaging Het
Gpr152 G A 19: 4,193,128 (GRCm39) C223Y probably damaging Het
Heatr5b A T 17: 79,129,008 (GRCm39) probably null Het
Hsd17b3 G T 13: 64,221,713 (GRCm39) T104N probably damaging Het
Il6ra C T 3: 89,793,302 (GRCm39) V283M probably benign Het
Krt74 G A 15: 101,662,900 (GRCm39) noncoding transcript Het
Lrch3 T A 16: 32,818,960 (GRCm39) N650K probably damaging Het
Ly96 A T 1: 16,779,710 (GRCm39) E126D probably benign Het
Mgarp C A 3: 51,298,706 (GRCm39) R66L possibly damaging Het
Naalad2 T A 9: 18,242,147 (GRCm39) T586S probably damaging Het
Ndufaf3 T C 9: 108,443,643 (GRCm39) probably benign Het
Neb A G 2: 52,139,450 (GRCm39) M3055T possibly damaging Het
Neo1 G T 9: 58,838,350 (GRCm39) A478D probably damaging Het
Nmrk1 A T 19: 18,617,248 (GRCm39) probably null Het
Nsl1 T C 1: 190,812,737 (GRCm39) M184T probably benign Het
Nup133 T C 8: 124,657,705 (GRCm39) N410S probably benign Het
Opalin A G 19: 41,054,970 (GRCm39) S75P probably benign Het
Or1e17 T C 11: 73,831,696 (GRCm39) I208T probably benign Het
Or3a4 A G 11: 73,944,733 (GRCm39) I284T possibly damaging Het
Or51ag1 T G 7: 103,155,716 (GRCm39) I146L probably benign Het
Palb2 C A 7: 121,713,574 (GRCm39) C903F probably damaging Het
Pcm1 T A 8: 41,740,720 (GRCm39) W989R probably damaging Het
Pfkfb4 T A 9: 108,856,661 (GRCm39) I389N probably damaging Het
Pitrm1 T C 13: 6,603,306 (GRCm39) C119R probably benign Het
Plekha1 T C 7: 130,510,106 (GRCm39) V45A probably damaging Het
Pold2 G A 11: 5,823,048 (GRCm39) P376S probably damaging Het
Rcan2 A G 17: 44,147,174 (GRCm39) D4G probably benign Het
Slc12a1 A T 2: 125,012,634 (GRCm39) T299S probably damaging Het
Slc22a29 A T 19: 8,138,880 (GRCm39) H527Q probably benign Het
Slc22a8 G A 19: 8,585,234 (GRCm39) R261H probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slco4a1 T C 2: 180,115,907 (GRCm39) F681S probably benign Het
Sorcs2 A T 5: 36,188,527 (GRCm39) H860Q probably benign Het
Strn A T 17: 78,964,374 (GRCm39) H530Q probably benign Het
Tex14 A G 11: 87,442,430 (GRCm39) R179G probably damaging Het
Tjp3 T C 10: 81,115,381 (GRCm39) D350G probably benign Het
Tnrc6b G T 15: 80,800,912 (GRCm39) R1406L possibly damaging Het
Tnxb A G 17: 34,935,947 (GRCm39) D2666G probably null Het
Ttn A T 2: 76,560,208 (GRCm39) Y27652N probably benign Het
Utp20 T A 10: 88,653,758 (GRCm39) E287D probably benign Het
Vmn1r45 T C 6: 89,910,698 (GRCm39) I91V probably benign Het
Wdr72 A T 9: 74,046,981 (GRCm39) K76* probably null Het
Zfp689 C T 7: 127,043,425 (GRCm39) A402T probably damaging Het
Zfpm1 A G 8: 123,060,532 (GRCm39) E207G probably damaging Het
Zhx2 G T 15: 57,686,470 (GRCm39) R613L possibly damaging Het
Other mutations in Klk1b16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01068:Klk1b16 APN 7 43,790,102 (GRCm39) missense probably damaging 0.98
IGL01529:Klk1b16 APN 7 43,790,163 (GRCm39) missense probably benign 0.18
R1105:Klk1b16 UTSW 7 43,788,937 (GRCm39) missense probably damaging 0.98
R1106:Klk1b16 UTSW 7 43,788,937 (GRCm39) missense probably damaging 0.98
R1559:Klk1b16 UTSW 7 43,790,425 (GRCm39) missense probably benign 0.00
R3883:Klk1b16 UTSW 7 43,788,887 (GRCm39) missense possibly damaging 0.86
R3884:Klk1b16 UTSW 7 43,788,887 (GRCm39) missense possibly damaging 0.86
R4152:Klk1b16 UTSW 7 43,789,973 (GRCm39) missense probably benign 0.09
R4398:Klk1b16 UTSW 7 43,790,851 (GRCm39) missense probably damaging 1.00
R5231:Klk1b16 UTSW 7 43,786,771 (GRCm39) missense probably damaging 1.00
R5389:Klk1b16 UTSW 7 43,790,412 (GRCm39) missense possibly damaging 0.83
R5532:Klk1b16 UTSW 7 43,790,950 (GRCm39) missense probably benign 0.00
R5690:Klk1b16 UTSW 7 43,790,318 (GRCm39) critical splice acceptor site probably null
R5717:Klk1b16 UTSW 7 43,788,913 (GRCm39) missense probably benign 0.00
R5749:Klk1b16 UTSW 7 43,790,210 (GRCm39) missense probably benign 0.03
R6589:Klk1b16 UTSW 7 43,790,894 (GRCm39) missense probably benign 0.03
R7084:Klk1b16 UTSW 7 43,788,910 (GRCm39) missense probably benign 0.01
R7336:Klk1b16 UTSW 7 43,790,907 (GRCm39) missense probably benign 0.05
R8281:Klk1b16 UTSW 7 43,790,971 (GRCm39) missense probably benign
R8358:Klk1b16 UTSW 7 43,790,185 (GRCm39) missense probably damaging 1.00
R9002:Klk1b16 UTSW 7 43,790,189 (GRCm39) missense possibly damaging 0.88
R9010:Klk1b16 UTSW 7 43,790,177 (GRCm39) missense probably benign 0.40
R9013:Klk1b16 UTSW 7 43,790,332 (GRCm39) missense probably benign 0.03
X0026:Klk1b16 UTSW 7 43,790,368 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TACAGTGGGTACAACGAGGC -3'
(R):5'- TTCTGTGAGCAAGGACTGTGAG -3'

Sequencing Primer
(F):5'- ATTCCACAGCCAGGATGGTG -3'
(R):5'- ACTGTGAGGGACCTGGCAG -3'
Posted On 2016-10-06