Incidental Mutation 'IGL02434:Tfpi'
| ID |
293233 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tfpi
|
| Ensembl Gene |
ENSMUSG00000027082 |
| Gene Name |
tissue factor pathway inhibitor |
| Synonyms |
A630013F22Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02434
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
84263199-84307119 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 84282892 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122776
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028487]
[ENSMUST00000090732]
[ENSMUST00000111711]
[ENSMUST00000111714]
[ENSMUST00000111717]
[ENSMUST00000111718]
[ENSMUST00000111722]
[ENSMUST00000150261]
|
| AlphaFold |
O54819 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028487
|
| SMART Domains |
Protein: ENSMUSP00000028487
Gene: ENSMUSG00000027082
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
KU
|
48 |
101 |
4.4e-25 |
SMART |
|
KU
|
119 |
172 |
7.97e-23 |
SMART |
|
KU
|
223 |
276 |
2.25e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090732
|
| SMART Domains |
Protein: ENSMUSP00000088235
Gene: ENSMUSG00000027082
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
KU
|
48 |
101 |
4.4e-25 |
SMART |
|
KU
|
119 |
172 |
7.97e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111711
|
| SMART Domains |
Protein: ENSMUSP00000107340
Gene: ENSMUSG00000027082
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
KU
|
48 |
101 |
4.4e-25 |
SMART |
|
KU
|
119 |
172 |
7.97e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111714
|
| SMART Domains |
Protein: ENSMUSP00000107343
Gene: ENSMUSG00000027082
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
KU
|
48 |
101 |
4.4e-25 |
SMART |
|
KU
|
119 |
172 |
7.97e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111717
|
| SMART Domains |
Protein: ENSMUSP00000107346
Gene: ENSMUSG00000027082
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
KU
|
48 |
101 |
4.4e-25 |
SMART |
|
KU
|
119 |
172 |
7.97e-23 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111718
|
| SMART Domains |
Protein: ENSMUSP00000107347
Gene: ENSMUSG00000027082
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
KU
|
48 |
101 |
4.4e-25 |
SMART |
|
KU
|
119 |
172 |
7.97e-23 |
SMART |
|
KU
|
223 |
276 |
2.25e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111722
|
| SMART Domains |
Protein: ENSMUSP00000107351
Gene: ENSMUSG00000027082
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
KU
|
48 |
101 |
4.4e-25 |
SMART |
|
KU
|
119 |
172 |
7.97e-23 |
SMART |
|
KU
|
217 |
270 |
2.25e-22 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144775
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150261
|
| SMART Domains |
Protein: ENSMUSP00000122776
Gene: ENSMUSG00000027082
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
KU
|
41 |
94 |
4.4e-25 |
SMART |
|
KU
|
112 |
165 |
7.97e-23 |
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 Kunitz-type serine protease inhibitor that regulates the tissue factor (TF)-dependent pathway of blood coagulation. The coagulation process initiates with the formation of a factor VIIa-TF complex, which proteolytically activates additional proteases (factors IX and X) and ultimately leads to the formation of a fibrin clot. The product of this gene inhibits the activated factor X and VIIa-TF proteases in an autoregulatory loop. Inhibition of the encoded protein restores hemostasis in animal models of hemophilia. This gene encodes multiple protein isoforms that differ in their inhibitory activity, specificity and cellular localization. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous mutant embryos die showing hemorrhages of the yolk sac, central nervous system, and tail. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago2 |
C |
A |
15: 72,992,930 (GRCm39) |
G525V |
probably damaging |
Het |
| Agxt2 |
T |
C |
15: 10,358,686 (GRCm39) |
S2P |
possibly damaging |
Het |
| Atg2b |
C |
T |
12: 105,605,466 (GRCm39) |
V339I |
probably benign |
Het |
| Btc |
T |
A |
5: 91,510,186 (GRCm39) |
I136F |
probably damaging |
Het |
| Cemip |
A |
T |
7: 83,604,492 (GRCm39) |
M850K |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,902,616 (GRCm39) |
T179S |
probably benign |
Het |
| Chd7 |
T |
C |
4: 8,752,145 (GRCm39) |
L214P |
probably benign |
Het |
| Garnl3 |
T |
A |
2: 32,944,217 (GRCm39) |
N114I |
probably damaging |
Het |
| Gm10010 |
G |
T |
6: 128,177,433 (GRCm39) |
|
noncoding transcript |
Het |
| Gstcd |
A |
G |
3: 132,701,963 (GRCm39) |
|
probably benign |
Het |
| Htr2b |
A |
G |
1: 86,038,492 (GRCm39) |
V38A |
probably benign |
Het |
| Hyal4 |
G |
A |
6: 24,763,857 (GRCm39) |
W339* |
probably null |
Het |
| Ifnb1 |
A |
G |
4: 88,440,755 (GRCm39) |
V86A |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,466,883 (GRCm39) |
|
probably null |
Het |
| Jag1 |
T |
C |
2: 136,929,075 (GRCm39) |
S794G |
probably benign |
Het |
| Kdm5c |
T |
A |
X: 151,016,558 (GRCm39) |
M1K |
probably null |
Het |
| Lct |
A |
G |
1: 128,231,527 (GRCm39) |
V774A |
probably damaging |
Het |
| Man2a2 |
G |
A |
7: 80,009,388 (GRCm39) |
A822V |
probably damaging |
Het |
| Med14 |
A |
T |
X: 12,612,063 (GRCm39) |
D371E |
possibly damaging |
Het |
| Nrcam |
A |
G |
12: 44,637,026 (GRCm39) |
|
probably benign |
Het |
| Or14j10 |
T |
A |
17: 37,935,467 (GRCm39) |
N20Y |
possibly damaging |
Het |
| Or52e18 |
A |
T |
7: 104,609,279 (GRCm39) |
M220K |
probably benign |
Het |
| Or52e18 |
A |
T |
7: 104,609,281 (GRCm39) |
Y219* |
probably null |
Het |
| Pitpnm1 |
C |
T |
19: 4,153,377 (GRCm39) |
R178W |
probably benign |
Het |
| Prb1b |
T |
A |
6: 132,289,339 (GRCm39) |
R162W |
unknown |
Het |
| Prkcg |
A |
G |
7: 3,367,406 (GRCm39) |
I324V |
probably benign |
Het |
| Prr30 |
A |
T |
14: 101,435,804 (GRCm39) |
C253S |
possibly damaging |
Het |
| Ptgis |
A |
T |
2: 167,082,262 (GRCm39) |
|
probably null |
Het |
| Rab11fip3 |
C |
T |
17: 26,287,809 (GRCm39) |
A115T |
possibly damaging |
Het |
| Reps2 |
C |
T |
X: 161,309,253 (GRCm39) |
|
probably null |
Het |
| Rev3l |
A |
G |
10: 39,698,587 (GRCm39) |
D1028G |
probably damaging |
Het |
| Rsbn1l |
T |
C |
5: 21,124,732 (GRCm39) |
R357G |
probably damaging |
Het |
| Scn5a |
A |
G |
9: 119,362,859 (GRCm39) |
L587P |
possibly damaging |
Het |
| Tanc2 |
C |
T |
11: 105,670,868 (GRCm39) |
T155I |
probably benign |
Het |
| Tfb2m |
A |
G |
1: 179,359,700 (GRCm39) |
|
probably benign |
Het |
| Tg |
T |
C |
15: 66,636,191 (GRCm39) |
S593P |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,839,910 (GRCm39) |
S314G |
probably benign |
Het |
|
| Other mutations in Tfpi |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01484:Tfpi
|
APN |
2 |
84,275,169 (GRCm39) |
nonsense |
probably null |
|
|
IGL01860:Tfpi
|
APN |
2 |
84,274,378 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03087:Tfpi
|
APN |
2 |
84,274,389 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
I1329:Tfpi
|
UTSW |
2 |
84,274,460 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0883:Tfpi
|
UTSW |
2 |
84,273,664 (GRCm39) |
splice site |
probably benign |
|
|
R1069:Tfpi
|
UTSW |
2 |
84,284,136 (GRCm39) |
splice site |
probably benign |
|
|
R1577:Tfpi
|
UTSW |
2 |
84,263,447 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1854:Tfpi
|
UTSW |
2 |
84,288,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1991:Tfpi
|
UTSW |
2 |
84,288,360 (GRCm39) |
splice site |
probably benign |
|
|
R2910:Tfpi
|
UTSW |
2 |
84,274,437 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3085:Tfpi
|
UTSW |
2 |
84,273,227 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4403:Tfpi
|
UTSW |
2 |
84,275,206 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4473:Tfpi
|
UTSW |
2 |
84,288,426 (GRCm39) |
missense |
probably null |
1.00 |
|
R4878:Tfpi
|
UTSW |
2 |
84,282,899 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5810:Tfpi
|
UTSW |
2 |
84,264,768 (GRCm39) |
intron |
probably benign |
|
|
R5949:Tfpi
|
UTSW |
2 |
84,275,092 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6899:Tfpi
|
UTSW |
2 |
84,275,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8024:Tfpi
|
UTSW |
2 |
84,284,266 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9068:Tfpi
|
UTSW |
2 |
84,273,235 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation