Incidental Mutation 'R3082:Serpinf2'
ID |
265493 |
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 |
040572-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.116)
|
Stock # |
R3082 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
75322562-75330327 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 75328354 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 65
(R65G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114450
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043696]
[ENSMUST00000108437]
[ENSMUST00000128330]
[ENSMUST00000142094]
[ENSMUST00000173320]
|
AlphaFold |
Q61247 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000043696
AA Change: R65G
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000048704 Gene: ENSMUSG00000038224 AA Change: R65G
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: R65G
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000104076 Gene: ENSMUSG00000038224 AA Change: R65G
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: R65G
PolyPhen 2
Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000114450 Gene: ENSMUSG00000038224 AA Change: R65G
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
100% (44/44) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss3 |
A |
G |
10: 106,859,576 (GRCm39) |
V341A |
possibly damaging |
Het |
Adam11 |
T |
C |
11: 102,660,943 (GRCm39) |
|
probably benign |
Het |
Aox1 |
G |
T |
1: 58,322,759 (GRCm39) |
|
probably benign |
Het |
Cdh6 |
T |
C |
15: 13,044,838 (GRCm39) |
D428G |
probably damaging |
Het |
Cep63 |
T |
C |
9: 102,479,696 (GRCm39) |
T339A |
probably benign |
Het |
Clcn1 |
T |
C |
6: 42,267,112 (GRCm39) |
Y66H |
probably damaging |
Het |
Cpsf2 |
C |
G |
12: 101,955,069 (GRCm39) |
S280C |
probably damaging |
Het |
Dcaf6 |
G |
T |
1: 165,250,421 (GRCm39) |
|
probably benign |
Het |
Ddx39a |
T |
A |
8: 84,449,335 (GRCm39) |
N344K |
possibly damaging |
Het |
Dvl1 |
T |
C |
4: 155,932,316 (GRCm39) |
V42A |
possibly damaging |
Het |
Ep400 |
A |
G |
5: 110,841,096 (GRCm39) |
|
probably benign |
Het |
Epb41l5 |
C |
T |
1: 119,536,992 (GRCm39) |
V300I |
probably damaging |
Het |
Fbln1 |
T |
G |
15: 85,149,454 (GRCm39) |
I617S |
probably benign |
Het |
Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
Grin3a |
G |
A |
4: 49,665,243 (GRCm39) |
R1131W |
probably benign |
Het |
Incenp |
T |
A |
19: 9,861,143 (GRCm39) |
M480L |
unknown |
Het |
Ints13 |
G |
T |
6: 146,476,205 (GRCm39) |
Q99K |
possibly damaging |
Het |
L2hgdh |
C |
T |
12: 69,768,858 (GRCm39) |
D85N |
probably benign |
Het |
Lct |
A |
G |
1: 128,215,345 (GRCm39) |
Y1744H |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,255,236 (GRCm39) |
|
probably null |
Het |
Mpdz |
A |
T |
4: 81,203,695 (GRCm39) |
|
probably benign |
Het |
Naa15 |
T |
C |
3: 51,367,471 (GRCm39) |
L498P |
probably damaging |
Het |
Naip6 |
T |
A |
13: 100,452,925 (GRCm39) |
E45D |
probably benign |
Het |
Nedd4l |
T |
A |
18: 65,312,049 (GRCm39) |
N405K |
probably benign |
Het |
Or4l15 |
A |
G |
14: 50,198,161 (GRCm39) |
Y123H |
probably damaging |
Het |
Or8u10 |
C |
T |
2: 85,916,053 (GRCm39) |
V23I |
probably benign |
Het |
Pitpnc1 |
A |
G |
11: 107,103,350 (GRCm39) |
S250P |
possibly damaging |
Het |
Ppp1r18 |
A |
G |
17: 36,184,742 (GRCm39) |
D131G |
probably damaging |
Het |
Prdm5 |
A |
G |
6: 65,913,069 (GRCm39) |
D206G |
probably damaging |
Het |
Pygl |
A |
G |
12: 70,244,303 (GRCm39) |
F455S |
probably damaging |
Het |
Rictor |
A |
T |
15: 6,804,338 (GRCm39) |
Y565F |
probably benign |
Het |
Ryr1 |
T |
C |
7: 28,745,071 (GRCm39) |
N3852D |
probably damaging |
Het |
S1pr5 |
A |
T |
9: 21,156,286 (GRCm39) |
C47S |
probably damaging |
Het |
Slfn14 |
C |
T |
11: 83,167,519 (GRCm39) |
W665* |
probably null |
Het |
Smu1 |
T |
C |
4: 40,745,567 (GRCm39) |
D251G |
probably damaging |
Het |
Spata18 |
A |
G |
5: 73,836,423 (GRCm39) |
|
probably benign |
Het |
Tex19.2 |
A |
G |
11: 121,007,557 (GRCm39) |
V297A |
probably benign |
Het |
Tmem131l |
A |
G |
3: 83,816,457 (GRCm39) |
|
probably null |
Het |
Trim9 |
T |
C |
12: 70,301,887 (GRCm39) |
R584G |
possibly damaging |
Het |
Trpm7 |
A |
T |
2: 126,686,342 (GRCm39) |
N295K |
possibly damaging |
Het |
Ugt2a3 |
A |
G |
5: 87,473,534 (GRCm39) |
V461A |
probably benign |
Het |
Vmn1r45 |
A |
T |
6: 89,910,724 (GRCm39) |
M82K |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTTCTGGACAGGTGTGACC -3'
(R):5'- TGTCGCATCAGGACTGAGAG -3'
Sequencing Primer
(F):5'- TGTGACCCCAGTACCTAGTG -3'
(R):5'- GGTCCTGAGTTCAAATCCCAG -3'
|
Posted On |
2015-02-05 |