Incidental Mutation 'R2910:Tfpi'
| ID |
261171 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tfpi
|
| Ensembl Gene |
ENSMUSG00000027082 |
| Gene Name |
tissue factor pathway inhibitor |
| Synonyms |
A630013F22Rik |
| MMRRC Submission |
040497-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2910 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
84263199-84307119 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 84274437 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 184
(V184G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107340
(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
AA Change: V190G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000028487
Gene: ENSMUSG00000027082
AA Change: V190G
| 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 |
possibly damaging
Transcript: ENSMUST00000090732
AA Change: V190G
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000088235
Gene: ENSMUSG00000027082
AA Change: V190G
| 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 |
possibly damaging
Transcript: ENSMUST00000111711
AA Change: V184G
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107340
Gene: ENSMUSG00000027082
AA Change: V184G
| 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 |
possibly damaging
Transcript: ENSMUST00000111714
AA Change: V190G
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107343
Gene: ENSMUSG00000027082
AA Change: V190G
| 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 |
possibly damaging
Transcript: ENSMUST00000111717
AA Change: V190G
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107346
Gene: ENSMUSG00000027082
AA Change: V190G
| 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
AA Change: V190G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000107347
Gene: ENSMUSG00000027082
AA Change: V190G
| 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
AA Change: V184G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000107351
Gene: ENSMUSG00000027082
AA Change: V184G
| 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 |
possibly damaging
Transcript: ENSMUST00000150261
AA Change: V183G
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000122776
Gene: ENSMUSG00000027082
AA Change: V183G
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
96% (49/51) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
A |
G |
16: 20,378,982 (GRCm39) |
T645A |
probably damaging |
Het |
| Acap1 |
A |
G |
11: 69,777,902 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
G |
A |
13: 81,705,238 (GRCm39) |
A1524V |
possibly damaging |
Het |
| Agbl1 |
A |
G |
7: 76,069,586 (GRCm39) |
N121D |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,989,018 (GRCm39) |
D3434G |
probably damaging |
Het |
| Ankrd11 |
A |
T |
8: 123,635,537 (GRCm39) |
D32E |
probably damaging |
Het |
| Asxl1 |
T |
C |
2: 153,242,959 (GRCm39) |
S1170P |
probably benign |
Het |
| Atp8b3 |
G |
A |
10: 80,355,746 (GRCm39) |
S1322F |
possibly damaging |
Het |
| Car15 |
G |
A |
16: 17,656,006 (GRCm39) |
|
probably benign |
Het |
| Cep104 |
T |
A |
4: 154,079,884 (GRCm39) |
|
probably null |
Het |
| Cnnm1 |
A |
G |
19: 43,458,086 (GRCm39) |
I633V |
possibly damaging |
Het |
| Cog8 |
A |
T |
8: 107,780,853 (GRCm39) |
V135E |
probably benign |
Het |
| Cts6 |
A |
G |
13: 61,344,215 (GRCm39) |
V279A |
probably damaging |
Het |
| Ddx1 |
C |
T |
12: 13,281,441 (GRCm39) |
|
probably null |
Het |
| Dock2 |
A |
G |
11: 34,182,910 (GRCm39) |
|
probably benign |
Het |
| Ero1b |
T |
A |
13: 12,615,178 (GRCm39) |
D336E |
probably damaging |
Het |
| F11 |
C |
G |
8: 45,694,486 (GRCm39) |
*625S |
probably null |
Het |
| F5 |
A |
G |
1: 164,032,389 (GRCm39) |
M1779V |
probably benign |
Het |
| Fam227a |
A |
T |
15: 79,520,935 (GRCm39) |
D296E |
possibly damaging |
Het |
| Fbxo38 |
T |
C |
18: 62,652,878 (GRCm39) |
D523G |
probably benign |
Het |
| Ggt1 |
G |
A |
10: 75,416,430 (GRCm39) |
V275M |
probably benign |
Het |
| Gm379 |
A |
C |
X: 107,708,371 (GRCm39) |
F43V |
possibly damaging |
Het |
| Grhl3 |
T |
C |
4: 135,286,457 (GRCm39) |
I75V |
probably benign |
Het |
| Iqcm |
A |
T |
8: 76,441,404 (GRCm39) |
I226F |
probably benign |
Het |
| Kcnq1 |
T |
G |
7: 142,979,699 (GRCm39) |
L615R |
probably damaging |
Het |
| Lcp2 |
G |
A |
11: 34,018,970 (GRCm39) |
|
probably null |
Het |
| Lypd8l |
G |
A |
11: 58,499,252 (GRCm39) |
Q189* |
probably null |
Het |
| Mbtps1 |
A |
G |
8: 120,272,776 (GRCm39) |
I123T |
possibly damaging |
Het |
| Muc5ac |
C |
T |
7: 141,361,378 (GRCm39) |
T1563I |
probably damaging |
Het |
| Odf2l |
A |
C |
3: 144,830,084 (GRCm39) |
I19L |
probably benign |
Het |
| Or5ak23 |
T |
A |
2: 85,244,695 (GRCm39) |
H176L |
probably damaging |
Het |
| Or5h25 |
C |
T |
16: 58,930,544 (GRCm39) |
R143H |
probably benign |
Het |
| Pigr |
A |
G |
1: 130,777,270 (GRCm39) |
D692G |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,394,268 (GRCm39) |
|
probably benign |
Het |
| Plekhg4 |
TAGTCGATGCCCGAGTC |
TAGTC |
8: 106,103,084 (GRCm39) |
|
probably benign |
Het |
| Reep2 |
T |
C |
18: 34,978,743 (GRCm39) |
|
probably null |
Het |
| Rubcnl |
C |
T |
14: 75,278,248 (GRCm39) |
T344I |
probably benign |
Het |
| Sema6d |
C |
A |
2: 124,506,957 (GRCm39) |
P941T |
probably damaging |
Het |
| Shcbp1l |
C |
A |
1: 153,304,372 (GRCm39) |
L144I |
probably damaging |
Het |
| Slc7a1 |
T |
C |
5: 148,289,067 (GRCm39) |
E60G |
probably benign |
Het |
| Snx2 |
C |
T |
18: 53,332,946 (GRCm39) |
P207S |
probably damaging |
Het |
| Spata31 |
T |
G |
13: 65,068,250 (GRCm39) |
S133A |
probably benign |
Het |
| Tac1 |
A |
G |
6: 7,559,097 (GRCm39) |
|
probably null |
Het |
| Tmeff1 |
C |
A |
4: 48,614,961 (GRCm39) |
N139K |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,891,424 (GRCm39) |
D589G |
probably damaging |
Het |
| Trpc1 |
C |
A |
9: 95,631,895 (GRCm39) |
A16S |
probably benign |
Het |
| Vmn2r106 |
A |
C |
17: 20,498,946 (GRCm39) |
L322V |
probably damaging |
Het |
| Vmn2r69 |
G |
T |
7: 85,055,918 (GRCm39) |
A740D |
probably damaging |
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 |
|
IGL02434:Tfpi
|
APN |
2 |
84,282,892 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCTACATGCTACATACACAGAAGC -3'
(R):5'- GGGGAACTCAATTGCAACAAC -3'
Sequencing Primer
(F):5'- AATGTCTATAATTTAACATGCCCCTC -3'
(R):5'- CTTTGCTGTTTTTGACACAACAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation