Incidental Mutation 'R4536:Tfpi2'
ID |
333323 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tfpi2
|
Ensembl Gene |
ENSMUSG00000029664 |
Gene Name |
tissue factor pathway inhibitor 2 |
Synonyms |
PP5/TFPI-2 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.198)
|
Stock # |
R4536 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
3962595-3988919 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 3968044 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 32
(N32S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031674
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031674]
[ENSMUST00000183682]
[ENSMUST00000203257]
|
AlphaFold |
O35536 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031674
AA Change: N32S
PolyPhen 2
Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000031674 Gene: ENSMUSG00000029664 AA Change: N32S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
KU
|
34 |
87 |
2.75e-26 |
SMART |
KU
|
94 |
147 |
1.92e-2 |
SMART |
KU
|
154 |
207 |
1.33e-19 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183682
|
SMART Domains |
Protein: ENSMUSP00000139066 Gene: ENSMUSG00000029664
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
22 |
N/A |
INTRINSIC |
KU
|
30 |
83 |
2.75e-26 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203257
|
SMART Domains |
Protein: ENSMUSP00000145193 Gene: ENSMUSG00000029664
Domain | Start | End | E-Value | Type |
Blast:KU
|
1 |
29 |
3e-12 |
BLAST |
KU
|
36 |
89 |
6.5e-22 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
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 Kunitz-type serine proteinase inhibitor family. The protein can inhibit a variety of serine proteases including factor VIIa/tissue factor, factor Xa, plasmin, trypsin, chymotryspin and plasma kallikrein. This gene has been identified as a tumor suppressor gene in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amot |
A |
G |
X: 144,263,138 (GRCm39) |
S398P |
probably benign |
Het |
Arhgef17 |
G |
C |
7: 100,579,061 (GRCm39) |
S629C |
probably damaging |
Het |
Atg5lrt |
G |
A |
10: 95,972,564 (GRCm39) |
A34T |
probably benign |
Het |
Atp5if1 |
A |
C |
4: 132,260,870 (GRCm39) |
S4A |
possibly damaging |
Het |
Atp8b2 |
G |
A |
3: 89,849,091 (GRCm39) |
A1081V |
probably benign |
Het |
Atr |
A |
G |
9: 95,756,471 (GRCm39) |
D867G |
probably benign |
Het |
C1qtnf3 |
G |
A |
15: 10,972,113 (GRCm39) |
S206N |
probably damaging |
Het |
Cep152 |
A |
C |
2: 125,444,867 (GRCm39) |
|
probably null |
Het |
Cetn1 |
T |
C |
18: 9,618,998 (GRCm39) |
E141G |
probably damaging |
Het |
Dennd2b |
A |
T |
7: 109,130,363 (GRCm39) |
S879R |
probably damaging |
Het |
Erbb4 |
A |
T |
1: 68,385,781 (GRCm39) |
N269K |
probably damaging |
Het |
Exoc4 |
C |
T |
6: 33,254,179 (GRCm39) |
R112C |
probably damaging |
Het |
Frmd4b |
T |
A |
6: 97,287,693 (GRCm39) |
Q241L |
possibly damaging |
Het |
Fyco1 |
A |
G |
9: 123,667,953 (GRCm39) |
V91A |
probably damaging |
Het |
Gls2 |
G |
A |
10: 128,036,806 (GRCm39) |
V196I |
probably benign |
Het |
Hormad1 |
T |
C |
3: 95,492,452 (GRCm39) |
V343A |
probably benign |
Het |
Incenp |
T |
C |
19: 9,861,303 (GRCm39) |
N450S |
unknown |
Het |
Klhl1 |
A |
C |
14: 96,374,019 (GRCm39) |
|
probably null |
Het |
Mettl4 |
C |
A |
17: 95,042,933 (GRCm39) |
S301I |
possibly damaging |
Het |
Mlxip |
G |
A |
5: 123,588,566 (GRCm39) |
D819N |
probably damaging |
Het |
Or10d5 |
A |
T |
9: 39,861,731 (GRCm39) |
L112Q |
probably damaging |
Het |
Pam |
T |
A |
1: 97,772,424 (GRCm39) |
K440* |
probably null |
Het |
Phldb2 |
T |
C |
16: 45,591,044 (GRCm39) |
M996V |
probably benign |
Het |
Pira13 |
T |
A |
7: 3,825,251 (GRCm39) |
M464L |
probably benign |
Het |
Rad51ap2 |
A |
G |
12: 11,507,850 (GRCm39) |
S591G |
possibly damaging |
Het |
Rfx6 |
A |
G |
10: 51,599,880 (GRCm39) |
N542S |
probably benign |
Het |
Slc44a4 |
T |
A |
17: 35,142,815 (GRCm39) |
C254S |
probably damaging |
Het |
Sptbn2 |
C |
T |
19: 4,782,630 (GRCm39) |
A522V |
probably damaging |
Het |
Syt10 |
C |
T |
15: 89,666,825 (GRCm39) |
D509N |
probably damaging |
Het |
Tango2 |
A |
G |
16: 18,142,219 (GRCm39) |
|
probably null |
Het |
Trafd1 |
T |
C |
5: 121,517,746 (GRCm39) |
|
probably null |
Het |
Ttll2 |
A |
T |
17: 7,619,120 (GRCm39) |
I269N |
probably benign |
Het |
Tysnd1 |
G |
A |
10: 61,531,832 (GRCm39) |
W161* |
probably null |
Het |
Uggt2 |
A |
T |
14: 119,256,970 (GRCm39) |
M1088K |
probably benign |
Het |
|
Other mutations in Tfpi2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00436:Tfpi2
|
APN |
6 |
3,965,407 (GRCm39) |
missense |
probably benign |
0.17 |
IGL00721:Tfpi2
|
APN |
6 |
3,963,414 (GRCm39) |
missense |
probably benign |
0.41 |
IGL01017:Tfpi2
|
APN |
6 |
3,965,359 (GRCm39) |
missense |
probably benign |
0.00 |
Runnymeade
|
UTSW |
6 |
3,968,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R0391:Tfpi2
|
UTSW |
6 |
3,965,460 (GRCm39) |
missense |
probably benign |
|
R1352:Tfpi2
|
UTSW |
6 |
3,968,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R1620:Tfpi2
|
UTSW |
6 |
3,965,507 (GRCm39) |
missense |
probably benign |
0.17 |
R3441:Tfpi2
|
UTSW |
6 |
3,965,504 (GRCm39) |
missense |
probably benign |
0.01 |
R4183:Tfpi2
|
UTSW |
6 |
3,963,926 (GRCm39) |
missense |
probably damaging |
1.00 |
R4534:Tfpi2
|
UTSW |
6 |
3,968,044 (GRCm39) |
missense |
possibly damaging |
0.87 |
R4535:Tfpi2
|
UTSW |
6 |
3,968,044 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7048:Tfpi2
|
UTSW |
6 |
3,968,032 (GRCm39) |
missense |
probably damaging |
1.00 |
R7870:Tfpi2
|
UTSW |
6 |
3,968,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R8116:Tfpi2
|
UTSW |
6 |
3,963,872 (GRCm39) |
missense |
probably damaging |
0.99 |
R8379:Tfpi2
|
UTSW |
6 |
3,963,849 (GRCm39) |
missense |
probably damaging |
1.00 |
R8907:Tfpi2
|
UTSW |
6 |
3,967,996 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Tfpi2
|
UTSW |
6 |
3,974,633 (GRCm39) |
intron |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCCGGTTATGTTCTGTCACC -3'
(R):5'- CAAGGTATCTGCCCAGGATC -3'
Sequencing Primer
(F):5'- ACACTTACTCTCGATACTTCCGCAAG -3'
(R):5'- TGCCCAGGATCCCCCTTG -3'
|
Posted On |
2015-08-18 |