Incidental Mutation 'R9578:Serpinf2'
| ID |
722425 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpinf2
|
| Ensembl Gene |
ENSMUSG00000038224 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade F, member 2 |
| Synonyms |
Pli, alpha 2 antiplasmin |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.116)
|
| Stock # |
R9578 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
75322562-75330327 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75327615 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 150
(H150L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048704
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043696]
[ENSMUST00000108437]
[ENSMUST00000128330]
[ENSMUST00000142094]
[ENSMUST00000173320]
|
| AlphaFold |
Q61247 |
| PDB Structure |
Structure of antiplasmin [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043696
AA Change: H150L
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000048704
Gene: ENSMUSG00000038224
AA Change: H150L
| 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: ENSMUST00000108437
AA Change: H150L
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000104076
Gene: ENSMUSG00000038224
AA Change: H150L
| 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 |
probably benign
Transcript: ENSMUST00000128330
AA Change: H150L
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000114450
Gene: ENSMUSG00000038224
AA Change: H150L
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
G |
A |
8: 106,436,505 (GRCm39) |
G234S |
probably damaging |
Het |
| Aipl1 |
C |
T |
11: 71,928,253 (GRCm39) |
G11D |
probably damaging |
Het |
| Aldh8a1 |
A |
G |
10: 21,253,281 (GRCm39) |
I14M |
probably damaging |
Het |
| Arhgap11a |
A |
G |
2: 113,670,125 (GRCm39) |
S333P |
possibly damaging |
Het |
| Atp1b3 |
A |
T |
9: 96,220,754 (GRCm39) |
D180E |
probably benign |
Het |
| B3gnt8 |
T |
C |
7: 25,328,089 (GRCm39) |
L173P |
probably damaging |
Het |
| Cabin1 |
A |
G |
10: 75,590,185 (GRCm39) |
F37S |
probably damaging |
Het |
| Carmil3 |
G |
T |
14: 55,741,293 (GRCm39) |
|
probably null |
Het |
| Cfi |
G |
T |
3: 129,659,024 (GRCm39) |
M327I |
probably benign |
Het |
| Cltc |
G |
A |
11: 86,593,237 (GRCm39) |
S1542F |
probably benign |
Het |
| Col7a1 |
G |
A |
9: 108,789,350 (GRCm39) |
G854D |
unknown |
Het |
| Cux1 |
A |
T |
5: 136,282,919 (GRCm39) |
|
probably null |
Het |
| Dcdc2c |
G |
T |
12: 28,602,234 (GRCm39) |
N23K |
probably damaging |
Het |
| Dclre1a |
A |
G |
19: 56,528,734 (GRCm39) |
I807T |
probably damaging |
Het |
| Dnah14 |
T |
C |
1: 181,502,007 (GRCm39) |
F1770L |
probably benign |
Het |
| Dnajc13 |
A |
G |
9: 104,115,726 (GRCm39) |
F28L |
probably benign |
Het |
| Dtna |
A |
G |
18: 23,728,612 (GRCm39) |
D269G |
probably damaging |
Het |
| Dusp4 |
G |
T |
8: 35,274,822 (GRCm39) |
|
probably benign |
Het |
| Ece1 |
T |
C |
4: 137,641,133 (GRCm39) |
S19P |
probably benign |
Het |
| Gas1 |
T |
C |
13: 60,323,905 (GRCm39) |
D243G |
possibly damaging |
Het |
| Ggnbp2 |
A |
G |
11: 84,744,989 (GRCm39) |
C178R |
probably benign |
Het |
| Gm12185 |
T |
A |
11: 48,806,408 (GRCm39) |
N261I |
probably benign |
Het |
| Grm4 |
A |
T |
17: 27,669,183 (GRCm39) |
F362I |
possibly damaging |
Het |
| Icos |
T |
A |
1: 61,032,871 (GRCm39) |
N23K |
probably benign |
Het |
| Kcnk2 |
CAAA |
CAA |
1: 188,988,891 (GRCm39) |
|
probably null |
Het |
| Krt5 |
T |
C |
15: 101,620,153 (GRCm39) |
K188R |
probably damaging |
Het |
| Mindy3 |
C |
T |
2: 12,361,715 (GRCm39) |
|
probably null |
Het |
| Ncdn |
C |
T |
4: 126,645,795 (GRCm39) |
R38H |
probably damaging |
Het |
| Nol9 |
A |
G |
4: 152,125,706 (GRCm39) |
K219R |
probably benign |
Het |
| Opalin |
A |
T |
19: 41,060,668 (GRCm39) |
S2R |
probably damaging |
Het |
| Or8g35 |
A |
T |
9: 39,381,201 (GRCm39) |
S274T |
probably damaging |
Het |
| Pask |
G |
A |
1: 93,263,390 (GRCm39) |
S122L |
probably benign |
Het |
| Pcdha11 |
T |
C |
18: 37,140,176 (GRCm39) |
S602P |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,816,753 (GRCm39) |
K1271R |
|
Het |
| Piezo1 |
T |
C |
8: 123,224,214 (GRCm39) |
H763R |
|
Het |
| Pigr |
A |
G |
1: 130,777,350 (GRCm39) |
K719E |
probably benign |
Het |
| Piwil4 |
A |
T |
9: 14,638,790 (GRCm39) |
V245E |
probably damaging |
Het |
| Plcb4 |
A |
G |
2: 135,829,444 (GRCm39) |
M925V |
probably benign |
Het |
| Pomt1 |
G |
A |
2: 32,133,543 (GRCm39) |
|
probably null |
Het |
| Pou2f2 |
C |
A |
7: 24,796,569 (GRCm39) |
A302S |
probably benign |
Het |
| Rapgef4 |
A |
T |
2: 72,026,052 (GRCm39) |
H359L |
probably damaging |
Het |
| Rfesd |
C |
T |
13: 76,156,299 (GRCm39) |
V36I |
possibly damaging |
Het |
| Rims1 |
G |
A |
1: 22,523,823 (GRCm39) |
T421M |
probably damaging |
Het |
| Syt10 |
A |
T |
15: 89,675,122 (GRCm39) |
M408K |
possibly damaging |
Het |
| Tcea1 |
T |
A |
1: 4,961,021 (GRCm39) |
|
probably null |
Het |
| Tia1 |
T |
C |
6: 86,407,347 (GRCm39) |
*387R |
probably null |
Het |
| Top3a |
A |
C |
11: 60,647,517 (GRCm39) |
V186G |
probably damaging |
Het |
| Upk3b |
T |
A |
5: 136,067,736 (GRCm39) |
S27R |
unknown |
Het |
| Usp18 |
A |
G |
6: 121,239,726 (GRCm39) |
S274G |
probably benign |
Het |
| Vmn1r230 |
C |
A |
17: 21,067,163 (GRCm39) |
C117* |
probably null |
Het |
| Vmn1r72 |
T |
C |
7: 11,404,347 (GRCm39) |
I34V |
probably benign |
Het |
| Vmn2r74 |
T |
C |
7: 85,606,101 (GRCm39) |
D415G |
probably benign |
Het |
| Zfp54 |
A |
G |
17: 21,655,186 (GRCm39) |
Y560C |
probably damaging |
Het |
|
| Other mutations in Serpinf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01019:Serpinf2
|
APN |
11 |
75,327,333 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
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 |
|
YA93:Serpinf2
|
UTSW |
11 |
75,323,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTGATGGGAAATCCTGCAC -3'
(R):5'- GTGATCTGTGGCCATGTTCATC -3'
Sequencing Primer
(F):5'- TGGGAAATCCTGCACGCAATG -3'
(R):5'- CATCATGGGGATGCCAGAG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation