Incidental Mutation 'R7100:Klk1'
ID 550762
Institutional Source Beutler Lab
Gene Symbol Klk1
Ensembl Gene ENSMUSG00000063903
Gene Name kallikrein 1
Synonyms Klk6, mGk-6, 0610007D04Rik
MMRRC Submission 045192-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # R7100 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 43874784-43879042 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 43878848 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 214 (G214E)
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 probably damaging
Transcript: ENSMUST00000075162
AA Change: G214E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074659
Gene: ENSMUSG00000063903
AA Change: G214E

DomainStartEndE-ValueType
Tryp_SPc 24 253 7.26e-104 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000206144
AA Change: G112E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206366
Predicted Effect probably benign
Transcript: ENSMUST00000206686
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (54/55)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl10 A G 2: 154,394,315 (GRCm39) E89G probably damaging Het
Adgrv1 A T 13: 81,419,016 (GRCm39) V5993E probably damaging Het
Amdhd1 T C 10: 93,372,936 (GRCm39) probably null Het
Amph T C 13: 19,334,011 (GRCm39) *691Q probably null Het
Ankrd55 A G 13: 112,492,644 (GRCm39) K272E probably benign Het
Arhgef10l C T 4: 140,244,126 (GRCm39) V838I possibly damaging Het
Arl2 C A 19: 6,184,774 (GRCm39) V160F probably benign Het
Catsperb T C 12: 101,412,297 (GRCm39) V128A possibly damaging Het
Cdk11b T A 4: 155,710,050 (GRCm39) L17H probably damaging Het
Cpsf1 A T 15: 76,480,314 (GRCm39) N1391K possibly damaging Het
Cpxm2 C T 7: 131,656,544 (GRCm39) A573T probably benign Het
Cspg4b T A 13: 113,455,501 (GRCm39) F516I Het
Daxx T C 17: 34,130,416 (GRCm39) S144P probably damaging Het
Dpp3 T C 19: 4,968,069 (GRCm39) D303G probably damaging Het
Fam181a T A 12: 103,282,132 (GRCm39) N12K probably damaging Het
Flg2 A T 3: 93,111,018 (GRCm39) R1015S unknown Het
Fstl5 A G 3: 76,443,600 (GRCm39) H315R probably benign Het
Fut4 A G 9: 14,662,689 (GRCm39) S202P probably damaging Het
Gm5114 T C 7: 39,057,708 (GRCm39) D637G possibly damaging Het
Gstcd G T 3: 132,790,704 (GRCm39) T21K probably benign Het
Heca C T 10: 17,791,121 (GRCm39) V312M probably benign Het
Herpud1 A G 8: 95,117,475 (GRCm39) R144G probably damaging Het
Hycc2 T A 1: 58,573,653 (GRCm39) T384S possibly damaging Het
Ino80 A G 2: 119,204,994 (GRCm39) S1511P possibly damaging Het
Irf2bp2 T C 8: 127,318,472 (GRCm39) T365A probably benign Het
Lama3 A T 18: 12,715,701 (GRCm39) N1719I possibly damaging Het
Lmna A G 3: 88,392,297 (GRCm39) I365T probably damaging Het
Lrp8 C A 4: 107,659,647 (GRCm39) A13E possibly damaging Het
Ly75 A G 2: 60,136,778 (GRCm39) L1483P probably benign Het
Maco1 T C 4: 134,533,971 (GRCm39) D550G probably damaging Het
Mid1 A G X: 168,768,073 (GRCm39) D407G probably benign Het
Mpl G T 4: 118,314,607 (GRCm39) A21E Het
Mus81 C T 19: 5,534,239 (GRCm39) G360S probably damaging Het
Nmt2 T A 2: 3,313,950 (GRCm39) S250T probably benign Het
Nr1d1 C A 11: 98,662,160 (GRCm39) R158L probably damaging Het
Pcgf6 G A 19: 47,039,153 (GRCm39) P36S unknown Het
Pcnx2 G A 8: 126,485,853 (GRCm39) A1915V probably benign Het
Peak1 A G 9: 56,166,677 (GRCm39) V417A probably damaging Het
Phf20l1 A G 15: 66,476,689 (GRCm39) N262S probably benign Het
Plaat5 T A 19: 7,616,923 (GRCm39) F313I unknown Het
Ppp2r5d A G 17: 46,996,608 (GRCm39) V355A probably benign Het
Rasa3 T C 8: 13,636,897 (GRCm39) T395A probably benign Het
Rims1 T A 1: 22,416,697 (GRCm39) I432F probably benign Het
Rnf123 C T 9: 107,933,838 (GRCm39) C1080Y probably damaging Het
Serpina3g T C 12: 104,204,570 (GRCm39) probably benign Het
Shank2 T A 7: 143,964,901 (GRCm39) D836E possibly damaging Het
Slc24a5 A C 2: 124,922,591 (GRCm39) S118R probably damaging Het
Smg1 G T 7: 117,783,743 (GRCm39) H1048N unknown Het
Specc1l T G 10: 75,081,329 (GRCm39) S242A probably benign Het
Tagap1 A T 17: 7,224,111 (GRCm39) L195Q possibly damaging Het
Trpc3 C A 3: 36,704,216 (GRCm39) E580D probably benign Het
Ttn A T 2: 76,541,166 (GRCm39) V33940E probably benign Het
Upp2 G T 2: 58,681,817 (GRCm39) R318L probably benign Het
Vezt T A 10: 93,832,795 (GRCm39) E205D probably benign Het
Vmn1r177 A G 7: 23,565,535 (GRCm39) F114L probably benign Het
Vmn2r53 C A 7: 12,315,513 (GRCm39) E769* probably null Het
Vnn3 T C 10: 23,741,840 (GRCm39) Y382H 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
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
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
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'- ACTTGGCTTAGGGGACTGTC -3'
(R):5'- GAACTCATTTGCTGCATGGTG -3'

Sequencing Primer
(F):5'- GGACTGTCCCATCCACCACTC -3'
(R):5'- GGGCTTTATTGAGAACATGGGAC -3'
Posted On 2019-05-15