Incidental Mutation 'IGL02134:Serpine1'
ID 281253
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 # IGL02134
Quality Score
Status
Chromosome 5
Chromosomal Location 137090358-137101122 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 137095889 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000039586
Gene: ENSMUSG00000037411

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SERPIN 40 402 9.47e-158 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000077523
SMART Domains Protein: ENSMUSP00000076728
Gene: ENSMUSG00000037411

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
SERPIN 40 402 9.47e-158 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199832
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf4 T C 17: 42,980,581 (GRCm39) N168S probably damaging Het
Angptl3 A T 4: 98,919,349 (GRCm39) R36S probably damaging Het
Ap5z1 T C 5: 142,460,214 (GRCm39) F514L probably benign Het
Arhgef39 C A 4: 43,497,578 (GRCm39) probably null Het
Aste1 A G 9: 105,275,043 (GRCm39) S11G probably damaging Het
Cadm4 T C 7: 24,198,986 (GRCm39) V87A probably benign Het
Cd177 A G 7: 24,451,777 (GRCm39) I413T probably benign Het
Col5a2 A G 1: 45,430,230 (GRCm39) probably null Het
Dera C T 6: 137,807,269 (GRCm39) A239V probably damaging Het
Ecm1 T C 3: 95,643,499 (GRCm39) E283G probably damaging Het
Eml6 G T 11: 29,709,066 (GRCm39) H24N probably benign Het
Etl4 A G 2: 20,811,240 (GRCm39) K1425E possibly damaging Het
Fgd3 G A 13: 49,450,225 (GRCm39) S8L possibly damaging Het
Gli1 T C 10: 127,172,369 (GRCm39) E228G probably benign Het
Hivep3 A G 4: 119,990,771 (GRCm39) probably benign Het
Iqcc A G 4: 129,512,818 (GRCm39) S11P probably damaging Het
Itpkc G A 7: 26,927,300 (GRCm39) Q205* probably null Het
Jmjd1c T A 10: 67,056,171 (GRCm39) S530R possibly damaging Het
Kcnq1 A G 7: 142,737,453 (GRCm39) H257R possibly damaging Het
Kcnt2 G A 1: 140,304,121 (GRCm39) V164I probably benign Het
Lgr5 T C 10: 115,288,763 (GRCm39) H603R possibly damaging Het
Lrp2 T C 2: 69,343,723 (GRCm39) probably null Het
Lrrn2 A G 1: 132,865,555 (GRCm39) M207V possibly damaging Het
Miip A G 4: 147,949,735 (GRCm39) probably benign Het
Mrps35 T C 6: 146,949,808 (GRCm39) probably benign Het
Nuf2 A T 1: 169,341,069 (GRCm39) M184K probably benign Het
Or10q1 C A 19: 13,727,165 (GRCm39) R232S probably benign Het
Or14j2 C T 17: 37,886,249 (GRCm39) E22K probably benign Het
Or2f2 A G 6: 42,767,398 (GRCm39) T142A probably benign Het
Or4a15 A T 2: 89,193,172 (GRCm39) N200K probably damaging Het
Or8g32 A T 9: 39,305,830 (GRCm39) I248F probably damaging Het
Os9 T C 10: 126,956,861 (GRCm39) I42V possibly damaging Het
Rapgef4 A C 2: 72,010,405 (GRCm39) Q177P probably damaging Het
Rhpn2 T C 7: 35,070,536 (GRCm39) probably benign Het
Scn5a T C 9: 119,314,958 (GRCm39) R1916G probably damaging Het
Snd1 C T 6: 28,880,278 (GRCm39) P684L possibly damaging Het
Tgds T C 14: 118,350,534 (GRCm39) N340D probably benign Het
Trpc4 A T 3: 54,223,075 (GRCm39) Y706F possibly damaging Het
Ttn T A 2: 76,584,166 (GRCm39) D22314V probably damaging Het
Utrn G A 10: 12,519,163 (GRCm39) T2263I probably damaging Het
Vmn1r11 A T 6: 57,115,022 (GRCm39) T229S possibly damaging Het
Zfp142 T G 1: 74,609,022 (GRCm39) H1488P probably damaging Het
Zfp219 A G 14: 52,246,758 (GRCm39) L78P probably damaging Het
Zfp629 T A 7: 127,211,042 (GRCm39) T256S probably benign Het
Other mutations in Serpine1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00919:Serpine1 APN 5 137,092,376 (GRCm39) missense probably benign 0.01
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
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 2015-04-16