Incidental Mutation 'R3441:Tfpi2'
| ID |
267374 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tfpi2
|
| Ensembl Gene |
ENSMUSG00000029664 |
| Gene Name |
tissue factor pathway inhibitor 2 |
| Synonyms |
PP5/TFPI-2 |
| MMRRC Submission |
040659-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.198)
|
| Stock # |
R3441 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
3962595-3988919 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 3965504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 103
(Y103N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031674
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031674]
[ENSMUST00000183682]
[ENSMUST00000203257]
|
| AlphaFold |
O35536 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031674
AA Change: Y103N
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000031674
Gene: ENSMUSG00000029664
AA Change: Y103N
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
97% (34/35) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
C |
8: 25,170,759 (GRCm39) |
|
probably benign |
Het |
| Ap5b1 |
A |
G |
19: 5,620,011 (GRCm39) |
H477R |
probably benign |
Het |
| Asz1 |
A |
C |
6: 18,108,405 (GRCm39) |
S68A |
probably benign |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Btnl6 |
T |
C |
17: 34,727,292 (GRCm39) |
K413E |
probably benign |
Het |
| Cav3 |
G |
A |
6: 112,449,402 (GRCm39) |
C140Y |
possibly damaging |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cfap91 |
T |
C |
16: 38,154,168 (GRCm39) |
M126V |
probably benign |
Het |
| Clrn3 |
A |
C |
7: 135,115,854 (GRCm39) |
Y165* |
probably null |
Het |
| Cp |
A |
T |
3: 20,029,121 (GRCm39) |
M533L |
probably benign |
Het |
| Cyba |
C |
T |
8: 123,151,803 (GRCm39) |
W103* |
probably null |
Het |
| Epha4 |
G |
T |
1: 77,403,333 (GRCm39) |
N95K |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,817,071 (GRCm39) |
N4268S |
probably benign |
Het |
| Glb1l2 |
C |
T |
9: 26,692,038 (GRCm39) |
A74T |
probably damaging |
Het |
| Gtf3c6 |
T |
A |
10: 40,127,169 (GRCm39) |
E123V |
probably null |
Het |
| Htr3b |
T |
C |
9: 48,856,815 (GRCm39) |
D221G |
probably benign |
Het |
| Hyal6 |
C |
T |
6: 24,734,592 (GRCm39) |
A175V |
probably benign |
Het |
| Kif1a |
C |
T |
1: 92,964,575 (GRCm39) |
D1334N |
possibly damaging |
Het |
| Krtap24-1 |
T |
C |
16: 88,408,713 (GRCm39) |
T138A |
probably damaging |
Het |
| Mrc2 |
A |
T |
11: 105,238,542 (GRCm39) |
T1230S |
possibly damaging |
Het |
| Mx1 |
T |
A |
16: 97,257,431 (GRCm39) |
I109F |
probably damaging |
Het |
| Nav3 |
A |
G |
10: 109,540,789 (GRCm39) |
F1947S |
probably benign |
Het |
| Or12e1 |
A |
G |
2: 87,022,162 (GRCm39) |
I44V |
probably benign |
Het |
| Or6k2 |
A |
T |
1: 173,986,746 (GRCm39) |
M136L |
probably benign |
Het |
| Plxnc1 |
G |
A |
10: 94,706,872 (GRCm39) |
T555I |
probably benign |
Het |
| Rab21 |
CCCGCCGCCGCCGCCGCC |
CCCGCCGCCGCCGCC |
10: 115,151,214 (GRCm39) |
|
probably benign |
Het |
| Rag2 |
T |
A |
2: 101,460,645 (GRCm39) |
F318L |
probably damaging |
Het |
| Scgb2b24 |
G |
T |
7: 33,438,025 (GRCm39) |
F27L |
probably damaging |
Het |
| Tchh |
A |
T |
3: 93,352,414 (GRCm39) |
D618V |
unknown |
Het |
| Teddm1b |
A |
G |
1: 153,751,007 (GRCm39) |
E272G |
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,202,723 (GRCm39) |
M88L |
probably benign |
Het |
| Tmem98 |
A |
G |
11: 80,705,125 (GRCm39) |
N71S |
probably damaging |
Het |
| Vmn1r181 |
A |
G |
7: 23,684,308 (GRCm39) |
I258V |
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 |
|
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 |
|
R4536: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'- GTCACACAGGTACACACATAATTG -3'
(R):5'- AAGAGAGGCCCATTGACATTC -3'
Sequencing Primer
(F):5'- AAGACTTGAAATAGAAGTGCCAC -3'
(R):5'- GAGAGGCCCATTGACATTCTTATTG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation