Incidental Mutation 'IGL00919:Serpine1'
ID27413
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Serpine1
Ensembl Gene ENSMUSG00000037411
Gene Nameserine (or cysteine) peptidase inhibitor, clade E, member 1
SynonymsPAI-1, PAI1, Planh1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00919
Quality Score
Status
Chromosome5
Chromosomal Location137061504-137072268 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 137063522 bp
ZygosityHeterozygous
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]
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: 10,173,237 V1029A probably damaging Het
Arhgap9 T C 10: 127,327,893 probably benign Het
Ccdc63 T C 5: 122,124,919 probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Coa7 G T 4: 108,338,308 G145C possibly damaging Het
Ctps A G 4: 120,567,348 V23A probably benign Het
Ehd4 T C 2: 120,097,054 E333G possibly damaging Het
Espl1 T C 15: 102,298,629 V176A probably benign Het
Fbxo41 A G 6: 85,478,570 I544T probably damaging Het
Fut9 A G 4: 25,620,316 V166A possibly damaging Het
Kirrel3 A G 9: 35,015,253 probably null Het
Nell2 T A 15: 95,383,727 D366V possibly damaging Het
Neurod4 A T 10: 130,270,814 I197N probably damaging Het
Nlrp9c A T 7: 26,394,056 Y61* probably null Het
Olfr1226 T G 2: 89,193,504 M177L probably benign Het
Pcdh1 T A 18: 38,202,812 K118* probably null Het
Phf12 T A 11: 77,983,340 I10N probably damaging Het
Ptprc A T 1: 138,113,642 C250S probably damaging Het
Rtl8c A G X: 53,608,220 T59A possibly damaging Het
Shank2 A T 7: 144,411,271 D865V probably damaging Het
Ski A T 4: 155,222,342 V60E possibly damaging Het
St7l T A 3: 104,926,466 L481H probably damaging Het
Tmpo A G 10: 91,162,800 I375T probably damaging Het
Ubr5 T C 15: 38,040,842 D266G probably damaging Het
Other mutations in Serpine1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01337:Serpine1 APN 5 137069331 missense probably damaging 0.99
IGL01484:Serpine1 APN 5 137063472 splice site probably benign
IGL02134:Serpine1 APN 5 137067035 splice site probably benign
R0508:Serpine1 UTSW 5 137064916 missense probably benign 0.00
R1969:Serpine1 UTSW 5 137067747 nonsense probably null
R4515:Serpine1 UTSW 5 137069468 missense probably damaging 0.99
R4951:Serpine1 UTSW 5 137069351 missense probably benign 0.04
R5540:Serpine1 UTSW 5 137063209 missense probably benign 0.03
R7122:Serpine1 UTSW 5 137066942 missense probably benign 0.28
R7144:Serpine1 UTSW 5 137071064 missense probably damaging 1.00
R7146:Serpine1 UTSW 5 137071064 missense probably damaging 1.00
R7844:Serpine1 UTSW 5 137071189 nonsense probably null
R8042:Serpine1 UTSW 5 137067001 missense probably benign
Posted On2013-04-17