Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00721:Tfpi2'

14436

Institutional Source

Australian Phenomics Network (link to record)

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) question?

Stock #

IGL00721

Quality Score

Status

Chromosome

Chromosomal Location

3962595-3988919 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3963414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 220 (D220G)

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: D220G

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000031674
Gene: ENSMUSG00000029664
AA Change: D220G

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
AA Change: D102G

PolyPhen 2 Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000145193
Gene: ENSMUSG00000029664
AA Change: D102G

Domain	Start	End	E-Value	Type
Blast:KU	1	29	3e-12	BLAST
KU	36	89	6.5e-22	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 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: 9 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bltp1	A	T	3: 37,084,900 (GRCm39)		probably null	Het
Col22a1	C	T	15: 71,718,026 (GRCm39)	G633E	unknown	Het
Kcnh5	G	A	12: 75,054,450 (GRCm39)	P498L	probably benign	Het
Pdzd2	A	G	15: 12,374,498 (GRCm39)	V1879A	probably benign	Het
Rif1	T	C	2: 52,009,129 (GRCm39)	S2303P	probably damaging	Het
Sis	G	T	3: 72,850,912 (GRCm39)	N595K	probably damaging	Het
Ttc21b	A	C	2: 66,057,122 (GRCm39)	S617A	probably benign	Het
Ttk	T	C	9: 83,745,501 (GRCm39)	I616T	probably damaging	Het
Usp49	A	G	17: 47,991,628 (GRCm39)	D630G	probably damaging	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
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
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

Posted On

2012-12-06