Incidental Mutation 'IGL01337:Serpine1'
| ID |
74677 |
| 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 # |
IGL01337
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
137090358-137101122 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 137098185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 163
(V163L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041388]
[ENSMUST00000077523]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041388
AA Change: V163L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000039586
Gene: ENSMUSG00000037411
AA Change: V163L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
SERPIN
|
40 |
402 |
9.47e-158 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077523
AA Change: V163L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000076728
Gene: ENSMUSG00000037411
AA Change: V163L
| Domain | Start | End | E-Value | Type |
|---|
|
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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
C |
6: 121,645,529 (GRCm39) |
Y1025H |
probably damaging |
Het |
| Adarb2 |
T |
C |
13: 8,620,282 (GRCm39) |
L256P |
probably benign |
Het |
| Arsj |
A |
G |
3: 126,158,763 (GRCm39) |
Y114C |
probably damaging |
Het |
| Bdp1 |
G |
A |
13: 100,192,700 (GRCm39) |
P1378L |
probably benign |
Het |
| Clca3a2 |
T |
C |
3: 144,800,939 (GRCm39) |
Y138C |
probably damaging |
Het |
| Dsp |
G |
A |
13: 38,376,663 (GRCm39) |
D1483N |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,790,198 (GRCm39) |
S617P |
probably benign |
Het |
| Fbxo34 |
T |
C |
14: 47,767,674 (GRCm39) |
S345P |
probably benign |
Het |
| Gm5420 |
A |
G |
10: 21,567,514 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr182 |
T |
A |
10: 127,586,655 (GRCm39) |
I99F |
possibly damaging |
Het |
| Hectd1 |
A |
G |
12: 51,849,057 (GRCm39) |
I349T |
possibly damaging |
Het |
| Kifc5b |
A |
G |
17: 27,143,718 (GRCm39) |
T497A |
possibly damaging |
Het |
| Mllt3 |
A |
C |
4: 87,759,057 (GRCm39) |
D330E |
probably damaging |
Het |
| Mpp3 |
T |
C |
11: 101,891,411 (GRCm39) |
T576A |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,934,506 (GRCm39) |
M126V |
probably benign |
Het |
| Naalad2 |
T |
G |
9: 18,238,669 (GRCm39) |
D644A |
probably damaging |
Het |
| Or4a74 |
A |
G |
2: 89,439,720 (GRCm39) |
I242T |
probably damaging |
Het |
| Otof |
C |
A |
5: 30,563,121 (GRCm39) |
A242S |
possibly damaging |
Het |
| Otof |
T |
C |
5: 30,576,856 (GRCm39) |
D132G |
probably benign |
Het |
| Pdk4 |
T |
A |
6: 5,491,869 (GRCm39) |
M68L |
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,093,488 (GRCm39) |
Y385H |
probably damaging |
Het |
| Rxrb |
A |
G |
17: 34,255,605 (GRCm39) |
N254S |
probably damaging |
Het |
| Samd5 |
T |
A |
10: 9,504,768 (GRCm39) |
Y162F |
probably benign |
Het |
| Sapcd2 |
A |
G |
2: 25,266,491 (GRCm39) |
*392W |
probably null |
Het |
| Senp6 |
T |
C |
9: 80,043,792 (GRCm39) |
Y635H |
probably damaging |
Het |
| Slc15a1 |
T |
C |
14: 121,698,091 (GRCm39) |
E678G |
possibly damaging |
Het |
| Slc22a16 |
T |
C |
10: 40,471,310 (GRCm39) |
F494L |
possibly damaging |
Het |
| Slc5a12 |
T |
A |
2: 110,450,718 (GRCm39) |
C304* |
probably null |
Het |
| Spink1 |
G |
A |
18: 43,870,216 (GRCm39) |
|
probably benign |
Het |
| Star |
G |
A |
8: 26,299,892 (GRCm39) |
G78E |
probably damaging |
Het |
| Stx1a |
T |
C |
5: 135,074,518 (GRCm39) |
I203T |
probably damaging |
Het |
| Tap2 |
A |
G |
17: 34,424,386 (GRCm39) |
|
probably benign |
Het |
| Trim75 |
T |
C |
8: 65,436,387 (GRCm39) |
D21G |
possibly damaging |
Het |
| Vmn1r62 |
T |
A |
7: 5,679,144 (GRCm39) |
I275N |
probably damaging |
Het |
|
| Other mutations in Serpine1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00919:Serpine1
|
APN |
5 |
137,092,376 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2013-10-07 |
Incidental Mutation