Incidental Mutation 'R2044:Klk1'
ID 221650
Institutional Source Beutler Lab
Gene Symbol Klk1
Ensembl Gene ENSMUSG00000063903
Gene Name kallikrein 1
Synonyms Klk6, mGk-6, 0610007D04Rik
MMRRC Submission 040051-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.061) question?
Stock # R2044 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 43874784-43879042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 43878458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Threonine at position 104 (K104T)
Ref Sequence ENSEMBL: ENSMUSP00000146057 (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

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

transmembrane domain 32 49 N/A INTRINSIC
transmembrane domain 62 84 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000075162
AA Change: K206T

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000074659
Gene: ENSMUSG00000063903
AA Change: K206T

Tryp_SPc 24 253 7.26e-104 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205329
Predicted Effect possibly damaging
Transcript: ENSMUST00000206144
AA Change: K104T

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000206366
Predicted Effect probably benign
Transcript: ENSMUST00000206686
Meta Mutation Damage Score 0.2413 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.7%
Validation Efficiency 98% (92/94)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik G A 17: 37,288,986 (GRCm39) probably benign Het
Abhd15 A G 11: 77,409,164 (GRCm39) T293A probably benign Het
Aldh1l1 C T 6: 90,539,647 (GRCm39) P192L probably benign Het
Aldoart1 T G 4: 72,770,779 (GRCm39) I10L probably benign Het
Ankhd1 G A 18: 36,778,166 (GRCm39) G1653D probably benign Het
Ankk1 A C 9: 49,330,664 (GRCm39) probably null Het
Astn1 A G 1: 158,428,072 (GRCm39) T748A possibly damaging Het
Bmp7 C A 2: 172,781,708 (GRCm39) R52L possibly damaging Het
Ccdc33 G A 9: 57,938,395 (GRCm39) P859S possibly damaging Het
Ccny A G 18: 9,449,644 (GRCm39) S10P probably damaging Het
Cdc6 C A 11: 98,801,287 (GRCm39) F179L probably benign Het
Cdc7 T A 5: 107,130,998 (GRCm39) V491E probably benign Het
Cdh23 G T 10: 60,432,509 (GRCm39) S138R possibly damaging Het
Cenpc1 T C 5: 86,185,614 (GRCm39) H299R probably benign Het
Ciart A T 3: 95,786,013 (GRCm39) M354K probably benign Het
Clasrp G T 7: 19,320,640 (GRCm39) probably benign Het
Col4a3 G A 1: 82,674,040 (GRCm39) G1132E unknown Het
Crebbp G A 16: 3,902,687 (GRCm39) T2184I probably benign Het
Cyp2r1 A C 7: 114,149,640 (GRCm39) M458R probably damaging Het
Cyp7a1 C A 4: 6,275,492 (GRCm39) R27M probably null Het
Ddhd2 A G 8: 26,242,192 (GRCm39) F116L probably damaging Het
Dgkd G A 1: 87,855,413 (GRCm39) R685K probably benign Het
Dnah2 A G 11: 69,415,066 (GRCm39) S223P probably benign Het
Exph5 A T 9: 53,283,979 (GRCm39) R353S possibly damaging Het
F11 C A 8: 45,705,155 (GRCm39) V129F probably benign Het
F830045P16Rik A T 2: 129,301,317 (GRCm39) S454T possibly damaging Het
Fam124a T C 14: 62,824,656 (GRCm39) I50T probably damaging Het
Fam20c T C 5: 138,741,982 (GRCm39) probably null Het
Fam234b A G 6: 135,203,912 (GRCm39) T405A probably benign Het
Fbh1 C A 2: 11,767,781 (GRCm39) V356L possibly damaging Het
Flywch1 G A 17: 23,981,287 (GRCm39) Q132* probably null Het
Foxo6 T C 4: 120,144,166 (GRCm39) D95G probably benign Het
Ggt5 T C 10: 75,439,921 (GRCm39) F174S probably damaging Het
Gm7104 G A 12: 88,252,551 (GRCm39) noncoding transcript Het
Gpr155 A G 2: 73,203,977 (GRCm39) L279P probably damaging Het
H2-T23 A G 17: 36,343,083 (GRCm39) L98P probably damaging Het
H4c16 G C 6: 136,781,101 (GRCm39) R93G possibly damaging Het
Heatr5a A G 12: 52,002,186 (GRCm39) V250A probably benign Het
Heyl A T 4: 123,135,156 (GRCm39) I50F probably damaging Het
Ifitm10 A T 7: 141,909,771 (GRCm39) S179R probably damaging Het
Isg15 A T 4: 156,284,249 (GRCm39) I93N probably benign Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Itga10 G A 3: 96,565,006 (GRCm39) V985I probably benign Het
Kcnt2 T C 1: 140,302,892 (GRCm39) I144T probably benign Het
Lemd3 C A 10: 120,769,347 (GRCm39) R654L probably damaging Het
Lmod1 A T 1: 135,292,125 (GRCm39) M327L probably benign Het
Lonrf2 T C 1: 38,846,131 (GRCm39) E347G probably benign Het
Ltbp1 A G 17: 75,583,427 (GRCm39) Y409C probably damaging Het
Mecom A T 3: 30,034,741 (GRCm39) Y312N probably damaging Het
Mmut A G 17: 41,252,342 (GRCm39) T295A probably benign Het
Mrgprb3 C T 7: 48,293,482 (GRCm39) C23Y possibly damaging Het
Nadk C A 4: 155,669,898 (GRCm39) L194I probably damaging Het
Naxd A G 8: 11,559,510 (GRCm39) I182V probably benign Het
Nbeal1 T A 1: 60,358,846 (GRCm39) I1176K probably damaging Het
Nol4l C A 2: 153,371,441 (GRCm39) R81L possibly damaging Het
Odad3 T G 9: 21,903,154 (GRCm39) T419P possibly damaging Het
Or4k47 T A 2: 111,452,159 (GRCm39) R87W probably benign Het
Or8g36 A T 9: 39,422,674 (GRCm39) M114K probably damaging Het
Or9s15 G T 1: 92,524,691 (GRCm39) R150L probably benign Het
Pcdh18 A G 3: 49,709,389 (GRCm39) V642A probably benign Het
Pdzk1 G A 3: 96,763,164 (GRCm39) probably benign Het
Per3 C T 4: 151,118,395 (GRCm39) V233I probably benign Het
Pisd G A 5: 32,922,140 (GRCm39) P267S possibly damaging Het
Prm1 T A 16: 10,614,357 (GRCm39) probably benign Het
Ptprj A G 2: 90,293,439 (GRCm39) V548A probably damaging Het
Ranbp3 G A 17: 56,980,367 (GRCm39) probably benign Het
Raver2 T A 4: 100,960,009 (GRCm39) V163D probably damaging Het
Rbm14 A T 19: 4,853,905 (GRCm39) I159N possibly damaging Het
Rfx6 G A 10: 51,594,222 (GRCm39) V381I probably benign Het
Rhobtb1 T C 10: 69,108,693 (GRCm39) probably benign Het
Rpl28-ps4 T A 6: 117,190,856 (GRCm39) noncoding transcript Het
Rsph10b A G 5: 143,904,068 (GRCm39) probably null Het
Rspo4 A G 2: 151,715,013 (GRCm39) K217E unknown Het
Scgb2b27 G A 7: 33,712,710 (GRCm39) A44V possibly damaging Het
Sec14l2 G A 11: 4,061,435 (GRCm39) probably benign Het
Sec31b T C 19: 44,524,595 (GRCm39) N101D probably benign Het
Sema6a A T 18: 47,439,496 (GRCm39) C9* probably null Het
Septin5 A C 16: 18,441,762 (GRCm39) L331R probably benign Het
Slc16a11 C A 11: 70,106,477 (GRCm39) Y238* probably null Het
Slc25a12 T C 2: 71,142,892 (GRCm39) T210A probably benign Het
Slc35f1 A T 10: 52,965,443 (GRCm39) Y286F probably damaging Het
Szt2 A T 4: 118,233,645 (GRCm39) L2225* probably null Het
Thap12 T C 7: 98,365,827 (GRCm39) L665P probably damaging Het
Tpsb2 T A 17: 25,586,698 (GRCm39) W237R probably damaging Het
Tyk2 T C 9: 21,031,637 (GRCm39) D451G probably damaging Het
Ube2j1 T A 4: 33,049,696 (GRCm39) N231K probably benign Het
Vmn1r225 A T 17: 20,722,852 (GRCm39) T98S possibly damaging Het
Vmn1r87 A T 7: 12,865,748 (GRCm39) S180T probably benign Het
Vmn2r6 A G 3: 64,445,262 (GRCm39) V821A probably damaging Het
Zfp689 C A 7: 127,043,998 (GRCm39) G211C probably damaging Het
Zfp827 A G 8: 79,802,865 (GRCm39) D479G probably benign Het
Zfp995 A C 17: 22,099,575 (GRCm39) F220V probably damaging 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
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
R4385:Klk1 UTSW 7 43,877,993 (GRCm39) missense probably benign 0.12
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

Sequencing Primer
Posted On 2014-08-25