Incidental Mutation 'IGL01484:Serpine1'
ID 88877
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 # IGL01484
Quality Score
Status
Chromosome 5
Chromosomal Location 137090358-137101122 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 137092326 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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd36 A G 11: 5,579,006 (GRCm39) H90R possibly damaging Het
Arsj A G 3: 126,158,685 (GRCm39) D88G probably damaging Het
Clca4b C T 3: 144,633,996 (GRCm39) V140I probably benign Het
Dagla A C 19: 10,225,884 (GRCm39) L760R possibly damaging Het
Dnah1 T C 14: 31,021,897 (GRCm39) E1202G probably damaging Het
Hdac9 T C 12: 34,487,164 (GRCm39) H100R probably damaging Het
Hhip T C 8: 80,723,412 (GRCm39) H414R probably damaging Het
Hk2 G A 6: 82,713,711 (GRCm39) T457M probably damaging Het
Iapp A G 6: 142,249,165 (GRCm39) T73A possibly damaging Het
Ifit1 A G 19: 34,626,243 (GRCm39) N460D probably damaging Het
Itpa T C 2: 130,514,019 (GRCm39) F77L probably benign Het
Knop1 T C 7: 118,452,032 (GRCm39) D229G probably damaging Het
Lrrc32 T C 7: 98,143,442 (GRCm39) I5T probably damaging Het
Myo7a C T 7: 97,734,629 (GRCm39) V622M probably damaging Het
N4bp1 T C 8: 87,571,400 (GRCm39) E866G probably damaging Het
Or2t48 A T 11: 58,420,222 (GRCm39) W197R probably benign Het
Palmd G A 3: 116,746,794 (GRCm39) probably benign Het
Pcbp4 A G 9: 106,337,848 (GRCm39) probably null Het
Pigf T C 17: 87,316,308 (GRCm39) I157V probably benign Het
Pot1b G A 17: 56,002,160 (GRCm39) T138M possibly damaging Het
Prl7a2 T A 13: 27,843,191 (GRCm39) D204V probably damaging Het
Rfc3 A T 5: 151,566,401 (GRCm39) D349E probably benign Het
Sarm1 A T 11: 78,381,839 (GRCm39) C215S probably damaging Het
Strip1 A G 3: 107,520,575 (GRCm39) V825A probably damaging Het
Stx12 A G 4: 132,611,673 (GRCm39) S2P probably damaging Het
Sycp1 A C 3: 102,823,183 (GRCm39) S311R probably benign Het
Tfpi A T 2: 84,275,169 (GRCm39) C139* probably null Het
Tmc5 T A 7: 118,256,010 (GRCm39) I695N probably damaging Het
Tmem169 T C 1: 72,340,263 (GRCm39) V231A probably damaging Het
Ttbk2 T G 2: 120,570,314 (GRCm39) S1211R possibly damaging Het
Ubr3 C T 2: 69,851,888 (GRCm39) R1855* probably null Het
Urb1 A T 16: 90,574,448 (GRCm39) S878T probably benign Het
Vmn1r174 T A 7: 23,453,749 (GRCm39) Y138* probably null Het
Zfp282 A G 6: 47,867,054 (GRCm39) N214D possibly damaging 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
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 2013-11-18