Incidental Mutation 'R0048:Klkb1'
ID 16018
Institutional Source Beutler Lab
Gene Symbol Klkb1
Ensembl Gene ENSMUSG00000109764
Gene Name kallikrein B, plasma 1
Synonyms PSA, Kal3, Klk3, Kal-3
MMRRC Submission 038342-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0048 (G1)
Quality Score
Status Validated
Chromosome 8
Chromosomal Location 45719725-45747872 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 45742233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000026907]
AlphaFold P26262
Predicted Effect probably benign
Transcript: ENSMUST00000026907
SMART Domains Protein: ENSMUSP00000026907
Gene: ENSMUSG00000109764

DomainStartEndE-ValueType
APPLE 21 104 1.96e-40 SMART
APPLE 111 194 3.93e-40 SMART
APPLE 201 284 2.65e-37 SMART
APPLE 292 375 1.34e-33 SMART
Tryp_SPc 390 621 2.22e-99 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116473
SMART Domains Protein: ENSMUSP00000112174
Gene: ENSMUSG00000031640

DomainStartEndE-ValueType
APPLE 21 104 1.96e-40 SMART
APPLE 111 194 3.93e-40 SMART
APPLE 201 284 2.65e-37 SMART
APPLE 292 375 1.34e-33 SMART
Tryp_SPc 390 621 2.22e-99 SMART
Coding Region Coverage
  • 1x: 90.1%
  • 3x: 87.7%
  • 10x: 82.5%
  • 20x: 75.5%
Validation Efficiency 94% (92/98)
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 processing to generate a disulfide-linked heterodimeric enzyme comprised of heavy and light chains. A complete deletion of the encoded protein prevents occlusive thrombus formation in mice with a minimal role in provoked bleeding. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous inactivation of this gene leads to reduced hematoma expansion in streptozotocin-induced diabetic mice subjected to autologous blood injection, and prolonged activated partial thromboplastin time. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 A G 1: 25,140,563 (GRCm39) I299T probably benign Het
Ankrd12 A G 17: 66,291,798 (GRCm39) S1212P probably damaging Het
Ankrd50 A G 3: 38,537,198 (GRCm39) S52P probably benign Het
Aox1 A G 1: 58,112,371 (GRCm39) E715G probably damaging Het
Arid1b T C 17: 5,364,309 (GRCm39) probably null Het
Brca1 A G 11: 101,415,803 (GRCm39) V777A possibly damaging Het
Btaf1 G T 19: 36,980,924 (GRCm39) A1582S probably benign Het
Cblif G A 19: 11,727,120 (GRCm39) V110M possibly damaging Het
Ccdc184 G A 15: 98,066,341 (GRCm39) A49T probably damaging Het
Cd109 A C 9: 78,587,303 (GRCm39) Y657S possibly damaging Het
Cfap53 A T 18: 74,432,244 (GRCm39) Y44F probably benign Het
Cped1 T A 6: 22,119,601 (GRCm39) N353K probably benign Het
Dcaf10 T G 4: 45,374,262 (GRCm39) Y562* probably null Het
Eno4 T C 19: 58,952,970 (GRCm39) M328T possibly damaging Het
Etv3l T C 3: 87,462,275 (GRCm39) noncoding transcript Het
Eya2 T A 2: 165,557,931 (GRCm39) Y176N probably damaging Het
Fat2 G T 11: 55,200,865 (GRCm39) H736Q probably benign Het
Fgfr2 A T 7: 129,782,218 (GRCm39) probably benign Het
Grhl1 A T 12: 24,662,150 (GRCm39) probably benign Het
H60b T A 10: 22,163,130 (GRCm39) M235K probably benign Het
Hal T A 10: 93,334,853 (GRCm39) Y395N probably damaging Het
Hmcn2 T C 2: 31,318,249 (GRCm39) S3865P possibly damaging Het
Inpp5j A G 11: 3,451,417 (GRCm39) V463A probably damaging Het
Iqgap3 A T 3: 88,023,256 (GRCm39) T516S probably benign Het
Itpr2 T C 6: 146,133,789 (GRCm39) probably null Het
Jmjd4 C A 11: 59,344,778 (GRCm39) H244N probably benign Het
Loxhd1 A T 18: 77,496,474 (GRCm39) Y1578F probably damaging Het
Lrp2 A T 2: 69,295,971 (GRCm39) D3379E probably damaging Het
Lrrfip1 C T 1: 91,021,369 (GRCm39) probably benign Het
Mblac1 A G 5: 138,192,727 (GRCm39) Y23C probably damaging Het
Mfsd12 G A 10: 81,198,648 (GRCm39) V380I possibly damaging Het
Mroh9 G A 1: 162,890,056 (GRCm39) T227M probably damaging Het
Mtor C T 4: 148,623,338 (GRCm39) Q2063* probably null Het
Ncstn A G 1: 171,897,528 (GRCm39) probably benign Het
Nek9 T C 12: 85,348,673 (GRCm39) T954A probably benign Het
Nlrc5 A T 8: 95,201,284 (GRCm39) Y126F possibly damaging Het
Nr1d1 A G 11: 98,661,304 (GRCm39) S321P probably benign Het
Or13c3 C A 4: 52,856,196 (GRCm39) A106S probably damaging Het
Pkn2 T C 3: 142,516,588 (GRCm39) I513V probably damaging Het
Pls1 T C 9: 95,669,116 (GRCm39) E35G probably damaging Het
Polr3a A G 14: 24,519,323 (GRCm39) probably benign Het
Ptgfr A G 3: 151,540,728 (GRCm39) V260A possibly damaging Het
Rabgap1l A G 1: 160,454,939 (GRCm39) probably benign Het
Raph1 T C 1: 60,539,764 (GRCm39) K423E probably benign Het
Rbm27 A G 18: 42,431,529 (GRCm39) D112G probably benign Het
Rbm46 A T 3: 82,771,537 (GRCm39) S359R probably damaging Het
Rhobtb3 A T 13: 76,050,364 (GRCm39) *100R probably null Het
Ryr2 T C 13: 11,610,670 (GRCm39) E4052G probably damaging Het
Sart3 G T 5: 113,893,458 (GRCm39) D346E possibly damaging Het
Sgsm1 A G 5: 113,416,616 (GRCm39) F629S probably damaging Het
Siglec1 T C 2: 130,915,317 (GRCm39) T1425A possibly damaging Het
Slc12a2 A T 18: 58,048,594 (GRCm39) probably benign Het
Slc38a10 G T 11: 120,001,138 (GRCm39) P561T probably benign Het
Slc45a4 A G 15: 73,477,285 (GRCm39) probably benign Het
Snx25 A T 8: 46,558,146 (GRCm39) probably benign Het
Son T A 16: 91,455,865 (GRCm39) H1537Q possibly damaging Het
Synpo2l A T 14: 20,716,340 (GRCm39) probably benign Het
Tarbp1 A G 8: 127,174,269 (GRCm39) Y846H probably damaging Het
Tgfb1 T A 7: 25,393,779 (GRCm39) probably benign Het
Tigd2 C A 6: 59,188,369 (GRCm39) T412K possibly damaging Het
Umodl1 A T 17: 31,187,451 (GRCm39) N172Y probably damaging Het
Urah C T 7: 140,416,665 (GRCm39) T46I probably damaging Het
Usp8 C T 2: 126,579,809 (GRCm39) P353L probably damaging Het
Vamp2 A G 11: 68,980,585 (GRCm39) D51G possibly damaging Het
Vps13a A T 19: 16,653,504 (GRCm39) V1959E probably damaging Het
Wdr76 C T 2: 121,365,900 (GRCm39) probably benign Het
Zbtb38 C T 9: 96,569,729 (GRCm39) V452M probably damaging Het
Zbtb41 A G 1: 139,369,572 (GRCm39) K650E probably damaging Het
Zfp532 A G 18: 65,777,404 (GRCm39) Y887C probably damaging Het
Other mutations in Klkb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:Klkb1 APN 8 45,747,105 (GRCm39) splice site probably benign
IGL01756:Klkb1 APN 8 45,725,361 (GRCm39) missense probably damaging 0.99
IGL01783:Klkb1 APN 8 45,729,428 (GRCm39) missense probably damaging 1.00
IGL01809:Klkb1 APN 8 45,729,090 (GRCm39) missense probably benign 0.00
IGL02128:Klkb1 APN 8 45,740,068 (GRCm39) missense probably damaging 1.00
IGL02512:Klkb1 APN 8 45,729,277 (GRCm39) splice site probably benign
E0374:Klkb1 UTSW 8 45,742,128 (GRCm39) missense possibly damaging 0.58
R0149:Klkb1 UTSW 8 45,729,100 (GRCm39) missense probably damaging 1.00
R0278:Klkb1 UTSW 8 45,725,446 (GRCm39) missense probably benign 0.27
R0551:Klkb1 UTSW 8 45,731,003 (GRCm39) critical splice donor site probably null
R1103:Klkb1 UTSW 8 45,729,183 (GRCm39) missense probably damaging 1.00
R1420:Klkb1 UTSW 8 45,729,183 (GRCm39) missense probably damaging 1.00
R1930:Klkb1 UTSW 8 45,728,514 (GRCm39) missense probably benign 0.13
R1931:Klkb1 UTSW 8 45,728,514 (GRCm39) missense probably benign 0.13
R2125:Klkb1 UTSW 8 45,728,541 (GRCm39) missense possibly damaging 0.68
R2418:Klkb1 UTSW 8 45,742,149 (GRCm39) missense possibly damaging 0.86
R2419:Klkb1 UTSW 8 45,742,149 (GRCm39) missense possibly damaging 0.86
R3938:Klkb1 UTSW 8 45,735,838 (GRCm39) missense probably damaging 0.99
R4445:Klkb1 UTSW 8 45,730,092 (GRCm39) missense probably benign 0.11
R4461:Klkb1 UTSW 8 45,726,612 (GRCm39) missense probably damaging 1.00
R4969:Klkb1 UTSW 8 45,735,814 (GRCm39) missense probably benign 0.43
R4974:Klkb1 UTSW 8 45,739,995 (GRCm39) missense probably damaging 1.00
R5113:Klkb1 UTSW 8 45,723,734 (GRCm39) missense probably benign 0.00
R5117:Klkb1 UTSW 8 45,742,149 (GRCm39) missense possibly damaging 0.86
R5339:Klkb1 UTSW 8 45,723,748 (GRCm39) missense possibly damaging 0.93
R5891:Klkb1 UTSW 8 45,723,703 (GRCm39) missense probably benign 0.13
R6230:Klkb1 UTSW 8 45,736,252 (GRCm39) missense probably benign 0.03
R6554:Klkb1 UTSW 8 45,726,591 (GRCm39) missense probably damaging 1.00
R6564:Klkb1 UTSW 8 45,726,671 (GRCm39) missense probably damaging 0.98
R7130:Klkb1 UTSW 8 45,728,575 (GRCm39) missense probably benign 0.00
R7497:Klkb1 UTSW 8 45,747,827 (GRCm39) utr 3 prime probably benign
R7599:Klkb1 UTSW 8 45,731,150 (GRCm39) missense probably benign 0.01
R7867:Klkb1 UTSW 8 45,740,002 (GRCm39) missense probably damaging 1.00
R9087:Klkb1 UTSW 8 45,728,515 (GRCm39) nonsense probably null
R9254:Klkb1 UTSW 8 45,742,067 (GRCm39) missense probably benign 0.00
R9311:Klkb1 UTSW 8 45,722,983 (GRCm39) missense probably benign 0.09
R9393:Klkb1 UTSW 8 45,729,392 (GRCm39) missense probably benign 0.33
R9522:Klkb1 UTSW 8 45,730,052 (GRCm39) missense probably benign 0.02
R9756:Klkb1 UTSW 8 45,735,811 (GRCm39) missense possibly damaging 0.95
Z1176:Klkb1 UTSW 8 45,726,666 (GRCm39) missense probably damaging 0.99
Z1177:Klkb1 UTSW 8 45,728,509 (GRCm39) missense probably damaging 1.00
Posted On 2013-01-08