Incidental Mutation 'IGL00919:Serpine1'
ID 27413
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpine1
Ensembl Gene ENSMUSG00000037411
Gene Name serine (or cysteine) peptidase inhibitor, clade E, member 1
Synonyms PAI1, Planh1, PAI-1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00919
Quality Score
Status
Chromosome 5
Chromosomal Location 137090358-137101122 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 137092376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 377 (I377T)
Ref Sequence ENSEMBL: ENSMUSP00000076728 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041388] [ENSMUST00000077523]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000041388
AA Change: I377T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000039586
Gene: ENSMUSG00000037411
AA Change: I377T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SERPIN 40 402 9.47e-158 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000077523
AA Change: I377T

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000076728
Gene: ENSMUSG00000037411
AA Change: I377T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SERPIN 40 402 9.47e-158 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine proteinase inhibitor (serpin) superfamily. This member is the principal inhibitor of tissue plasminogen activator (tPA) and urokinase (uPA), and hence is an inhibitor of fibrinolysis. Defects in this gene are the cause of plasminogen activator inhibitor-1 deficiency (PAI-1 deficiency), and high concentrations of the gene product are associated with thrombophilia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Although mice homozygous for disruptions in this gene display an essentially normal phenotype, a mild blood clotting defect does exist. Mice homozygous for an allele with amino acid substitutions exhibit decreased sensitivity to LPS-induced lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef1 A G 1: 10,243,462 (GRCm39) V1029A probably damaging Het
Arhgap9 T C 10: 127,163,762 (GRCm39) probably benign Het
Ccdc63 T C 5: 122,262,982 (GRCm39) probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Coa7 G T 4: 108,195,505 (GRCm39) G145C possibly damaging Het
Ctps1 A G 4: 120,424,545 (GRCm39) V23A probably benign Het
Ehd4 T C 2: 119,927,535 (GRCm39) E333G possibly damaging Het
Espl1 T C 15: 102,207,064 (GRCm39) V176A probably benign Het
Fbxo41 A G 6: 85,455,552 (GRCm39) I544T probably damaging Het
Fut9 A G 4: 25,620,316 (GRCm39) V166A possibly damaging Het
Kirrel3 A G 9: 34,926,549 (GRCm39) probably null Het
Nell2 T A 15: 95,281,608 (GRCm39) D366V possibly damaging Het
Neurod4 A T 10: 130,106,683 (GRCm39) I197N probably damaging Het
Nlrp9c A T 7: 26,093,481 (GRCm39) Y61* probably null Het
Or4c121 T G 2: 89,023,848 (GRCm39) M177L probably benign Het
Pcdh1 T A 18: 38,335,865 (GRCm39) K118* probably null Het
Phf12 T A 11: 77,874,166 (GRCm39) I10N probably damaging Het
Ptprc A T 1: 138,041,380 (GRCm39) C250S probably damaging Het
Rtl8c A G X: 52,610,187 (GRCm39) T59A possibly damaging Het
Shank2 A T 7: 143,965,008 (GRCm39) D865V probably damaging Het
Ski A T 4: 155,306,799 (GRCm39) V60E possibly damaging Het
St7l T A 3: 104,833,782 (GRCm39) L481H probably damaging Het
Tmpo A G 10: 90,998,662 (GRCm39) I375T probably damaging Het
Ubr5 T C 15: 38,041,086 (GRCm39) D266G probably damaging Het
Other mutations in Serpine1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01337:Serpine1 APN 5 137,098,185 (GRCm39) missense probably damaging 0.99
IGL01484:Serpine1 APN 5 137,092,326 (GRCm39) splice site probably benign
IGL02134:Serpine1 APN 5 137,095,889 (GRCm39) splice site probably benign
R0508:Serpine1 UTSW 5 137,093,770 (GRCm39) missense probably benign 0.00
R1969:Serpine1 UTSW 5 137,096,601 (GRCm39) nonsense probably null
R4515:Serpine1 UTSW 5 137,098,322 (GRCm39) missense probably damaging 0.99
R4951:Serpine1 UTSW 5 137,098,205 (GRCm39) missense probably benign 0.04
R5540:Serpine1 UTSW 5 137,092,063 (GRCm39) missense probably benign 0.03
R7122:Serpine1 UTSW 5 137,095,796 (GRCm39) missense probably benign 0.28
R7144:Serpine1 UTSW 5 137,099,918 (GRCm39) missense probably damaging 1.00
R7146:Serpine1 UTSW 5 137,099,918 (GRCm39) missense probably damaging 1.00
R7844:Serpine1 UTSW 5 137,100,043 (GRCm39) nonsense probably null
R8042:Serpine1 UTSW 5 137,095,855 (GRCm39) missense probably benign
R8550:Serpine1 UTSW 5 137,092,352 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17