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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |