Incidental Mutation 'IGL02128:Klkb1'
ID280944
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Klkb1
Ensembl Gene ENSMUSG00000109764
Gene Namekallikrein B, plasma 1
SynonymsKlk3, Kal-3, PSA, Kal3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02128
Quality Score
Status
Chromosome8
Chromosomal Location45266689-45294859 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 45287031 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 75 (F75I)
Ref Sequence ENSEMBL: ENSMUSP00000026907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026907]
Predicted Effect probably damaging
Transcript: ENSMUST00000026907
AA Change: F75I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026907
Gene: ENSMUSG00000109764
AA Change: F75I

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
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 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: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atad1 A T 19: 32,687,327 probably benign Het
Bard1 T C 1: 71,075,228 K198R possibly damaging Het
Brca1 A G 11: 101,530,982 probably benign Het
Col6a5 T C 9: 105,939,894 E406G unknown Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cxcr2 A G 1: 74,158,994 T216A probably benign Het
Dnah7a C T 1: 53,437,513 S3424N probably damaging Het
Gm17660 A G 5: 104,074,703 probably null Het
Golgb1 T G 16: 36,916,304 L1971R probably damaging Het
Hspg2 T G 4: 137,564,016 C3892W probably damaging Het
Jmjd1c T C 10: 67,243,869 L2214P probably damaging Het
Loxl3 T A 6: 83,050,583 V702E probably damaging Het
Pcdh18 T A 3: 49,756,686 N60I possibly damaging Het
Pex5 A T 6: 124,398,460 N534K probably damaging Het
Ppp1r16a T A 15: 76,693,978 L383Q probably benign Het
Rp1 A G 1: 4,347,385 V1168A probably damaging Het
Slc2a2 A G 3: 28,719,401 E285G probably damaging Het
Stab1 T A 14: 31,150,441 N1171I probably damaging Het
Vcl A G 14: 21,020,577 I744V probably benign Het
Other mutations in Klkb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00979:Klkb1 APN 8 45294068 splice site probably benign
IGL01756:Klkb1 APN 8 45272324 missense probably damaging 0.99
IGL01783:Klkb1 APN 8 45276391 missense probably damaging 1.00
IGL01809:Klkb1 APN 8 45276053 missense probably benign 0.00
IGL02512:Klkb1 APN 8 45276240 splice site probably benign
E0374:Klkb1 UTSW 8 45289091 missense possibly damaging 0.58
R0048:Klkb1 UTSW 8 45289196 splice site probably benign
R0149:Klkb1 UTSW 8 45276063 missense probably damaging 1.00
R0278:Klkb1 UTSW 8 45272409 missense probably benign 0.27
R0551:Klkb1 UTSW 8 45277966 critical splice donor site probably null
R1103:Klkb1 UTSW 8 45276146 missense probably damaging 1.00
R1420:Klkb1 UTSW 8 45276146 missense probably damaging 1.00
R1930:Klkb1 UTSW 8 45275477 missense probably benign 0.13
R1931:Klkb1 UTSW 8 45275477 missense probably benign 0.13
R2125:Klkb1 UTSW 8 45275504 missense possibly damaging 0.68
R2418:Klkb1 UTSW 8 45289112 missense possibly damaging 0.86
R2419:Klkb1 UTSW 8 45289112 missense possibly damaging 0.86
R3938:Klkb1 UTSW 8 45282801 missense probably damaging 0.99
R4445:Klkb1 UTSW 8 45277055 missense probably benign 0.11
R4461:Klkb1 UTSW 8 45273575 missense probably damaging 1.00
R4969:Klkb1 UTSW 8 45282777 missense probably benign 0.43
R4974:Klkb1 UTSW 8 45286958 missense probably damaging 1.00
R5113:Klkb1 UTSW 8 45270697 missense probably benign 0.00
R5117:Klkb1 UTSW 8 45289112 missense possibly damaging 0.86
R5339:Klkb1 UTSW 8 45270711 missense possibly damaging 0.93
R5891:Klkb1 UTSW 8 45270666 missense probably benign 0.13
R6230:Klkb1 UTSW 8 45283215 missense probably benign 0.03
R6554:Klkb1 UTSW 8 45273554 missense probably damaging 1.00
R6564:Klkb1 UTSW 8 45273634 missense probably damaging 0.98
R7130:Klkb1 UTSW 8 45275538 missense probably benign 0.00
R7497:Klkb1 UTSW 8 45294790 utr 3 prime probably benign
R7599:Klkb1 UTSW 8 45278113 missense probably benign 0.01
R7867:Klkb1 UTSW 8 45286965 missense probably damaging 1.00
R7950:Klkb1 UTSW 8 45286965 missense probably damaging 1.00
Z1176:Klkb1 UTSW 8 45273629 missense probably damaging 0.99
Z1177:Klkb1 UTSW 8 45275472 missense probably damaging 1.00
Posted On2015-04-16