Incidental Mutation 'R4385:Klk1'
ID 326169
Institutional Source Beutler Lab
Gene Symbol Klk1
Ensembl Gene ENSMUSG00000063903
Gene Name kallikrein 1
Synonyms Klk6, mGk-6, 0610007D04Rik
MMRRC Submission 041124-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R4385 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 43874784-43879042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 43877993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 83 (D83V)
Ref Sequence ENSEMBL: ENSMUSP00000074659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037220] [ENSMUST00000075162] [ENSMUST00000206144] [ENSMUST00000206366] [ENSMUST00000206686]
AlphaFold P15947
Predicted Effect probably benign
Transcript: ENSMUST00000037220
SMART Domains Protein: ENSMUSP00000048665
Gene: ENSMUSG00000038782

DomainStartEndE-ValueType
transmembrane domain 35 52 N/A INTRINSIC
transmembrane domain 59 81 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000072123
SMART Domains Protein: ENSMUSP00000071992
Gene: ENSMUSG00000062073

DomainStartEndE-ValueType
transmembrane domain 32 49 N/A INTRINSIC
transmembrane domain 62 84 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000075162
AA Change: D83V

PolyPhen 2 Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000074659
Gene: ENSMUSG00000063903
AA Change: D83V

DomainStartEndE-ValueType
Tryp_SPc 24 253 7.26e-104 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205329
Predicted Effect probably benign
Transcript: ENSMUST00000206144
Predicted Effect probably benign
Transcript: ENSMUST00000206366
Predicted Effect probably benign
Transcript: ENSMUST00000206686
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206890
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
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. Mice lacking the encoded protein are unable to generate significant levels of kinins in most tissues, develop cardiovascular abnormalities and exhibit hypercalciuria of renal origin. This gene is located in a cluster of several related kallikrein genes on chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, Feb 2016]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A T 11: 94,259,065 (GRCm39) I426N probably damaging Het
Abcc6 C T 7: 45,644,752 (GRCm39) V808I possibly damaging Het
Adam23 T C 1: 63,605,787 (GRCm39) Y624H probably damaging Het
Apbb1 A G 7: 105,216,483 (GRCm39) S140P probably benign Het
Arhgef10 T A 8: 14,980,157 (GRCm39) C132* probably null Het
Boc A T 16: 44,311,545 (GRCm39) L726H probably damaging Het
Calr3 T A 8: 73,182,008 (GRCm39) D120V probably damaging Het
Cdc27 T C 11: 104,425,640 (GRCm39) R59G probably benign Het
Cfap43 T C 19: 47,785,568 (GRCm39) R441G probably benign Het
Chsy3 A G 18: 59,309,424 (GRCm39) I226V probably benign Het
Chsy3 A T 18: 59,312,546 (GRCm39) T340S possibly damaging Het
Cnot10 T A 9: 114,460,949 (GRCm39) K74* probably null Het
Col5a1 A C 2: 27,914,791 (GRCm39) M136L probably damaging Het
Coro2a A T 4: 46,541,961 (GRCm39) I387N possibly damaging Het
Csnk1g1 T C 9: 65,927,190 (GRCm39) V119A probably damaging Het
Cyfip2 C T 11: 46,133,230 (GRCm39) M823I probably benign Het
Dcbld2 A G 16: 58,283,429 (GRCm39) K555E probably damaging Het
Dpep3 A G 8: 106,704,818 (GRCm39) M164T probably damaging Het
Flg C A 3: 93,200,316 (GRCm39) probably benign Het
Hecw1 C T 13: 14,490,749 (GRCm39) D748N probably damaging Het
Ift172 T C 5: 31,444,311 (GRCm39) D37G probably damaging Het
Iglc1 A T 16: 18,880,508 (GRCm39) C104* probably null Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klk1b9 T C 7: 43,443,699 (GRCm39) V71A probably benign Het
Loxhd1 A G 18: 77,460,607 (GRCm39) K806R probably damaging Het
Metap1 T C 3: 138,180,824 (GRCm39) E119G possibly damaging Het
Nbea T C 3: 55,908,059 (GRCm39) H1351R possibly damaging Het
Nim1k T C 13: 120,174,162 (GRCm39) D244G probably damaging Het
Npas1 C T 7: 16,193,110 (GRCm39) probably null Het
Pcdh15 A G 10: 74,386,322 (GRCm39) D1136G probably damaging Het
Pde6b A G 5: 108,575,508 (GRCm39) I657V probably benign Het
Pi4ka A G 16: 17,204,129 (GRCm39) V55A probably benign Het
Plxnb2 T C 15: 89,044,826 (GRCm39) N1173S probably damaging Het
Pramel23 C T 4: 143,424,584 (GRCm39) probably null Het
Ptpn13 T C 5: 103,681,273 (GRCm39) probably null Het
Ptprb A G 10: 116,182,772 (GRCm39) S1483G probably benign Het
Rbm48 G A 5: 3,640,300 (GRCm39) P360S probably damaging Het
Rbp3 G C 14: 33,677,253 (GRCm39) E400D probably benign Het
Resf1 T C 6: 149,227,706 (GRCm39) S251P possibly damaging Het
Rfpl4 A G 7: 5,113,669 (GRCm39) S165P possibly damaging Het
Scn9a A T 2: 66,314,900 (GRCm39) L1595Q probably damaging Het
Scp2 A T 4: 107,928,547 (GRCm39) V381D probably damaging Het
Sec24c G A 14: 20,740,841 (GRCm39) V620M probably damaging Het
Slc30a9 T C 5: 67,473,110 (GRCm39) Y65H probably damaging Het
Sorcs1 A G 19: 50,178,599 (GRCm39) I841T probably benign Het
Sp140l1 C T 1: 85,087,057 (GRCm39) probably null Het
Spag7 C T 11: 70,560,029 (GRCm39) A27T probably damaging Het
St6galnac6 A G 2: 32,505,036 (GRCm39) I181V possibly damaging Het
Tm9sf3 T C 19: 41,236,372 (GRCm39) M130V probably damaging Het
Ugt3a1 C T 15: 9,306,565 (GRCm39) S238F probably benign Het
Usp9y G A Y: 1,304,756 (GRCm39) L2363F probably damaging Het
Vmn1r34 T A 6: 66,614,123 (GRCm39) H205L probably damaging Het
Vps50 C A 6: 3,516,694 (GRCm39) Q59K probably benign Het
Zeb2 T A 2: 44,913,074 (GRCm39) D39V probably damaging Het
Zfp146 G A 7: 29,861,847 (GRCm39) T65I probably benign Het
Zfp36 T C 7: 28,077,116 (GRCm39) D264G probably benign Het
Other mutations in Klk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01571:Klk1 APN 7 43,878,020 (GRCm39) missense probably damaging 0.98
IGL01788:Klk1 APN 7 43,878,407 (GRCm39) missense probably benign 0.00
R0011:Klk1 UTSW 7 43,878,959 (GRCm39) missense probably benign 0.03
R0184:Klk1 UTSW 7 43,878,173 (GRCm39) missense possibly damaging 0.50
R0853:Klk1 UTSW 7 43,870,922 (GRCm39) unclassified probably benign
R0925:Klk1 UTSW 7 43,878,240 (GRCm39) critical splice donor site probably null
R2044:Klk1 UTSW 7 43,878,458 (GRCm39) missense possibly damaging 0.95
R2518:Klk1 UTSW 7 43,870,161 (GRCm39) splice site probably null
R2982:Klk1 UTSW 7 43,878,863 (GRCm39) missense probably damaging 1.00
R3962:Klk1 UTSW 7 43,878,973 (GRCm39) missense possibly damaging 0.87
R4041:Klk1 UTSW 7 43,878,986 (GRCm39) missense probably damaging 1.00
R4067:Klk1 UTSW 7 43,876,968 (GRCm39) nonsense probably null
R4901:Klk1 UTSW 7 43,878,139 (GRCm39) missense probably damaging 0.99
R5256:Klk1 UTSW 7 43,870,985 (GRCm39) unclassified probably benign
R5580:Klk1 UTSW 7 43,878,238 (GRCm39) missense probably benign 0.00
R5595:Klk1 UTSW 7 43,878,161 (GRCm39) splice site probably null
R6818:Klk1 UTSW 7 43,878,883 (GRCm39) missense probably damaging 1.00
R7100:Klk1 UTSW 7 43,878,848 (GRCm39) missense probably damaging 1.00
R8351:Klk1 UTSW 7 43,878,410 (GRCm39) missense probably benign 0.11
R8451:Klk1 UTSW 7 43,878,410 (GRCm39) missense probably benign 0.11
R8458:Klk1 UTSW 7 43,874,933 (GRCm39) missense probably damaging 1.00
R8850:Klk1 UTSW 7 43,877,056 (GRCm39) missense probably damaging 0.99
R9081:Klk1 UTSW 7 43,874,952 (GRCm39) unclassified probably benign
R9786:Klk1 UTSW 7 43,878,104 (GRCm39) missense probably damaging 0.97
R9796:Klk1 UTSW 7 43,877,965 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- GAAGTTCAGCCCTGTCCTAG -3'
(R):5'- TCGATGGGCTTCACAACATC -3'

Sequencing Primer
(F):5'- TGTCCTAGCTGCACCTGAG -3'
(R):5'- CATCTGTGATGTCAGCAGGC -3'
Posted On 2015-07-06