Incidental Mutation 'IGL01019:Serpinf2'
ID |
53883 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Serpinf2
|
Ensembl Gene |
ENSMUSG00000038224 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade F, member 2 |
Synonyms |
Pli, alpha 2 antiplasmin |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.116)
|
Stock # |
IGL01019
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
75322562-75330327 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 75327333 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 198
(E198V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114450
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043696]
[ENSMUST00000108437]
[ENSMUST00000128330]
[ENSMUST00000142094]
[ENSMUST00000173320]
|
AlphaFold |
Q61247 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000043696
AA Change: E198V
PolyPhen 2
Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000048704 Gene: ENSMUSG00000038224 AA Change: E198V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
SERPIN
|
91 |
436 |
1.5e-137 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108437
AA Change: E198V
PolyPhen 2
Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000104076 Gene: ENSMUSG00000038224 AA Change: E198V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
SERPIN
|
91 |
436 |
1.5e-137 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000117392
|
SMART Domains |
Protein: ENSMUSP00000113939 Gene: ENSMUSG00000045374
Domain | Start | End | E-Value | Type |
Beach
|
347 |
589 |
2.52e-98 |
SMART |
low complexity region
|
673 |
704 |
N/A |
INTRINSIC |
low complexity region
|
848 |
874 |
N/A |
INTRINSIC |
low complexity region
|
1141 |
1165 |
N/A |
INTRINSIC |
low complexity region
|
1196 |
1210 |
N/A |
INTRINSIC |
low complexity region
|
1566 |
1587 |
N/A |
INTRINSIC |
WD40
|
1630 |
1669 |
3.19e-7 |
SMART |
WD40
|
1679 |
1716 |
1.18e2 |
SMART |
WD40
|
1719 |
1761 |
7.36e1 |
SMART |
WD40
|
1764 |
1807 |
3.3e1 |
SMART |
WD40
|
1810 |
1848 |
3.58e-1 |
SMART |
WD40
|
1893 |
1934 |
4.26e1 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000128330
AA Change: E198V
PolyPhen 2
Score 0.579 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000114450 Gene: ENSMUSG00000038224 AA Change: E198V
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
SERPIN
|
91 |
280 |
1.07e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132442
|
SMART Domains |
Protein: ENSMUSP00000120605 Gene: ENSMUSG00000045374
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
7 |
N/A |
INTRINSIC |
low complexity region
|
23 |
47 |
N/A |
INTRINSIC |
low complexity region
|
78 |
92 |
N/A |
INTRINSIC |
low complexity region
|
448 |
469 |
N/A |
INTRINSIC |
WD40
|
512 |
551 |
3.19e-7 |
SMART |
WD40
|
561 |
598 |
1.18e2 |
SMART |
WD40
|
601 |
670 |
3.55e1 |
SMART |
Blast:WD40
|
673 |
710 |
3e-14 |
BLAST |
WD40
|
715 |
756 |
4.26e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142094
|
SMART Domains |
Protein: ENSMUSP00000120812 Gene: ENSMUSG00000038224
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173320
|
SMART Domains |
Protein: ENSMUSP00000134266 Gene: ENSMUSG00000045374
Domain | Start | End | E-Value | Type |
Beach
|
347 |
589 |
2.52e-98 |
SMART |
low complexity region
|
673 |
704 |
N/A |
INTRINSIC |
low complexity region
|
848 |
874 |
N/A |
INTRINSIC |
low complexity region
|
1141 |
1165 |
N/A |
INTRINSIC |
low complexity region
|
1196 |
1210 |
N/A |
INTRINSIC |
low complexity region
|
1566 |
1587 |
N/A |
INTRINSIC |
WD40
|
1630 |
1669 |
3.19e-7 |
SMART |
WD40
|
1679 |
1716 |
1.18e2 |
SMART |
WD40
|
1719 |
1761 |
7.36e1 |
SMART |
WD40
|
1764 |
1807 |
3.3e1 |
SMART |
WD40
|
1810 |
1848 |
3.58e-1 |
SMART |
WD40
|
1893 |
1934 |
4.26e1 |
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 serpin family of serine protease inhibitors. The protein is a major inhibitor of plasmin, which degrades fibrin and various other proteins. Consequently, the proper function of this gene has a major role in regulating the blood clotting pathway. Mutations in this gene result in alpha-2-plasmin inhibitor deficiency, which is characterized by severe hemorrhagic diathesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] PHENOTYPE: Mice homozygous for disruptions in this gene have an essentially normal phenotype. Spontaneous lysis of blood clots occurs more readily but bleeding times are unaffected. [provided by MGI curators]
|
Allele List at MGI |
All alleles(2) : Targeted, knock-out(2) |
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930022D16Rik |
T |
C |
11: 109,308,737 (GRCm39) |
|
probably benign |
Het |
Aatk |
T |
C |
11: 119,903,101 (GRCm39) |
S375G |
probably benign |
Het |
Abcg8 |
T |
C |
17: 84,999,423 (GRCm39) |
M173T |
probably benign |
Het |
B3galt2 |
A |
C |
1: 143,522,495 (GRCm39) |
R210S |
probably benign |
Het |
Bltp1 |
G |
T |
3: 37,061,133 (GRCm39) |
|
probably null |
Het |
Capn5 |
C |
T |
7: 97,784,971 (GRCm39) |
A168T |
probably damaging |
Het |
Cbx7 |
C |
T |
15: 79,814,829 (GRCm39) |
G24D |
probably damaging |
Het |
Ccdc7a |
A |
T |
8: 129,788,099 (GRCm39) |
S77T |
probably benign |
Het |
Cd200r2 |
T |
A |
16: 44,729,832 (GRCm39) |
|
probably benign |
Het |
Cdh11 |
T |
C |
8: 103,406,377 (GRCm39) |
H32R |
probably benign |
Het |
Chdh |
A |
T |
14: 29,753,289 (GRCm39) |
N66I |
probably benign |
Het |
Clca3a2 |
G |
A |
3: 144,519,388 (GRCm39) |
Q263* |
probably null |
Het |
Dcc |
T |
C |
18: 71,942,161 (GRCm39) |
I319V |
probably benign |
Het |
Depdc5 |
G |
T |
5: 33,050,745 (GRCm39) |
M170I |
probably damaging |
Het |
Dop1b |
T |
A |
16: 93,607,117 (GRCm39) |
L2140Q |
probably benign |
Het |
Frem3 |
G |
A |
8: 81,341,763 (GRCm39) |
G1352E |
probably benign |
Het |
Fsd1l |
T |
A |
4: 53,694,742 (GRCm39) |
C389S |
probably damaging |
Het |
Grin2c |
C |
T |
11: 115,148,936 (GRCm39) |
A221T |
possibly damaging |
Het |
Gstz1 |
C |
A |
12: 87,210,575 (GRCm39) |
P153T |
probably damaging |
Het |
Itgb2 |
T |
C |
10: 77,378,237 (GRCm39) |
S22P |
possibly damaging |
Het |
Krt87 |
G |
T |
15: 101,336,312 (GRCm39) |
Q114K |
possibly damaging |
Het |
Krtap5-4 |
A |
C |
7: 141,857,647 (GRCm39) |
S106R |
unknown |
Het |
Lats1 |
T |
C |
10: 7,581,435 (GRCm39) |
V740A |
probably damaging |
Het |
Mcm9 |
C |
A |
10: 53,506,041 (GRCm39) |
G78C |
probably damaging |
Het |
Mn1 |
G |
A |
5: 111,569,413 (GRCm39) |
E1128K |
possibly damaging |
Het |
Myo1f |
G |
A |
17: 33,811,977 (GRCm39) |
R592H |
possibly damaging |
Het |
Nfat5 |
G |
T |
8: 108,094,146 (GRCm39) |
A277S |
probably damaging |
Het |
Nfkbia |
T |
A |
12: 55,537,327 (GRCm39) |
Y254F |
probably damaging |
Het |
Nr3c2 |
A |
T |
8: 77,635,843 (GRCm39) |
N315Y |
probably damaging |
Het |
Otof |
T |
C |
5: 30,562,560 (GRCm39) |
M258V |
probably benign |
Het |
Panx3 |
C |
T |
9: 37,572,767 (GRCm39) |
C261Y |
probably damaging |
Het |
Pdia2 |
C |
A |
17: 26,417,896 (GRCm39) |
G38W |
probably damaging |
Het |
Psg19 |
G |
T |
7: 18,527,971 (GRCm39) |
Y257* |
probably null |
Het |
Ptpre |
A |
T |
7: 135,280,054 (GRCm39) |
K586* |
probably null |
Het |
Reps1 |
A |
G |
10: 18,000,643 (GRCm39) |
R752G |
probably damaging |
Het |
Rpgrip1 |
T |
A |
14: 52,368,633 (GRCm39) |
D277E |
possibly damaging |
Het |
Rpl21-ps6 |
A |
G |
17: 56,222,671 (GRCm39) |
|
noncoding transcript |
Het |
Sh3tc1 |
A |
G |
5: 35,860,719 (GRCm39) |
L1046P |
probably damaging |
Het |
Snw1 |
T |
C |
12: 87,497,711 (GRCm39) |
E426G |
probably benign |
Het |
Sord |
T |
A |
2: 122,094,564 (GRCm39) |
N317K |
probably benign |
Het |
Taar3 |
A |
T |
10: 23,826,330 (GRCm39) |
D292V |
probably damaging |
Het |
Tdrd3 |
C |
A |
14: 87,709,618 (GRCm39) |
T94K |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,687,165 (GRCm39) |
E736* |
probably null |
Het |
Usp32 |
A |
G |
11: 84,930,091 (GRCm39) |
V562A |
probably damaging |
Het |
Vmn1r169 |
T |
G |
7: 23,276,611 (GRCm39) |
M1R |
probably null |
Het |
Vmn2r3 |
C |
T |
3: 64,167,304 (GRCm39) |
C609Y |
probably damaging |
Het |
Vmn2r69 |
T |
C |
7: 85,055,739 (GRCm39) |
T800A |
probably benign |
Het |
Vmn2r72 |
G |
A |
7: 85,387,542 (GRCm39) |
T674I |
probably benign |
Het |
Zfp160 |
T |
A |
17: 21,241,088 (GRCm39) |
M52K |
possibly damaging |
Het |
Zfp607a |
T |
A |
7: 27,578,042 (GRCm39) |
C371S |
probably damaging |
Het |
|
Other mutations in Serpinf2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01367:Serpinf2
|
APN |
11 |
75,328,871 (GRCm39) |
missense |
probably benign |
|
IGL01382:Serpinf2
|
APN |
11 |
75,328,863 (GRCm39) |
unclassified |
probably benign |
|
R0122:Serpinf2
|
UTSW |
11 |
75,327,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R0135:Serpinf2
|
UTSW |
11 |
75,327,219 (GRCm39) |
missense |
probably damaging |
1.00 |
R1864:Serpinf2
|
UTSW |
11 |
75,328,309 (GRCm39) |
missense |
possibly damaging |
0.74 |
R2202:Serpinf2
|
UTSW |
11 |
75,327,588 (GRCm39) |
missense |
probably benign |
0.07 |
R3082:Serpinf2
|
UTSW |
11 |
75,328,354 (GRCm39) |
missense |
probably benign |
0.19 |
R5117:Serpinf2
|
UTSW |
11 |
75,323,326 (GRCm39) |
missense |
probably benign |
0.28 |
R5487:Serpinf2
|
UTSW |
11 |
75,324,031 (GRCm39) |
missense |
probably damaging |
0.99 |
R5681:Serpinf2
|
UTSW |
11 |
75,326,765 (GRCm39) |
missense |
probably damaging |
0.99 |
R5764:Serpinf2
|
UTSW |
11 |
75,328,230 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5868:Serpinf2
|
UTSW |
11 |
75,324,065 (GRCm39) |
missense |
probably benign |
0.00 |
R6349:Serpinf2
|
UTSW |
11 |
75,323,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R6364:Serpinf2
|
UTSW |
11 |
75,327,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R6488:Serpinf2
|
UTSW |
11 |
75,328,329 (GRCm39) |
missense |
probably benign |
|
R6701:Serpinf2
|
UTSW |
11 |
75,323,269 (GRCm39) |
missense |
probably damaging |
0.97 |
R7034:Serpinf2
|
UTSW |
11 |
75,329,244 (GRCm39) |
unclassified |
probably benign |
|
R7036:Serpinf2
|
UTSW |
11 |
75,329,244 (GRCm39) |
unclassified |
probably benign |
|
R9147:Serpinf2
|
UTSW |
11 |
75,323,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R9148:Serpinf2
|
UTSW |
11 |
75,323,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R9487:Serpinf2
|
UTSW |
11 |
75,323,494 (GRCm39) |
missense |
probably damaging |
0.97 |
R9509:Serpinf2
|
UTSW |
11 |
75,328,895 (GRCm39) |
missense |
probably benign |
0.01 |
R9578:Serpinf2
|
UTSW |
11 |
75,327,615 (GRCm39) |
missense |
probably benign |
0.07 |
YA93:Serpinf2
|
UTSW |
11 |
75,323,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2013-06-28 |