Mutagenetix > Incidental Mutation

Incidental Mutation 'R1352:Tfpi2'

156697

Institutional Source

Beutler Lab

Gene Symbol

Tfpi2

Ensembl Gene

ENSMUSG00000029664

Gene Name

tissue factor pathway inhibitor 2

Synonyms

PP5/TFPI-2

MMRRC Submission

039417-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.198) question?

Stock #

R1352 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3962595-3988919 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3968281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 15 (L15P)

Ref Sequence

ENSEMBL: ENSMUSP00000031674 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031674] [ENSMUST00000183682] [ENSMUST00000203257]

AlphaFold

O35536

Predicted Effect

probably damaging
Transcript: ENSMUST00000031674
AA Change: L15P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000031674
Gene: ENSMUSG00000029664
AA Change: L15P

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

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 92.5%

Validation Efficiency

95% (42/44)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	G	7: 45,784,892 (GRCm39)		probably benign	Het
Acbd3	T	A	1: 180,566,095 (GRCm39)	Y263N	probably damaging	Het
Aldh4a1	T	C	4: 139,362,830 (GRCm39)	V142A	probably benign	Het
Car9	G	T	4: 43,512,439 (GRCm39)		probably null	Het
Cass4	T	C	2: 172,258,415 (GRCm39)	S138P	probably damaging	Het
Cbln4	T	C	2: 171,879,376 (GRCm39)	K171E	possibly damaging	Het
Cd226	A	G	18: 89,265,298 (GRCm39)	Y79C	probably damaging	Het
Dclre1a	T	C	19: 56,533,595 (GRCm39)	D333G	probably damaging	Het
Dst	T	A	1: 34,268,329 (GRCm39)		probably null	Het
Eml5	A	G	12: 98,797,262 (GRCm39)		probably benign	Het
Evx1	T	C	6: 52,293,995 (GRCm39)	S388P	probably damaging	Het
Gins1	T	A	2: 150,772,768 (GRCm39)	L177*	probably null	Het
Gm5422	A	C	10: 31,126,731 (GRCm39)		noncoding transcript	Het
Gmppa	T	A	1: 75,417,178 (GRCm39)	D204E	probably benign	Het
Ifna7	A	C	4: 88,734,897 (GRCm39)	T145P	possibly damaging	Het
Inhbb	T	C	1: 119,348,425 (GRCm39)	D131G	probably benign	Het
Itpr2	T	C	6: 146,013,240 (GRCm39)	K2679E	probably damaging	Het
Kif20b	C	A	19: 34,902,035 (GRCm39)	H4N	probably benign	Het
Kng1	G	T	16: 22,886,444 (GRCm39)		probably null	Het
Lrrfip1	C	T	1: 91,043,089 (GRCm39)	A498V	probably benign	Het
Myo3a	T	A	2: 22,328,486 (GRCm39)		probably null	Het
Nkapl	T	C	13: 21,652,230 (GRCm39)	R128G	unknown	Het
Or51v8	T	C	7: 103,319,518 (GRCm39)	H240R	probably damaging	Het
Or5bw2	A	T	7: 6,573,782 (GRCm39)	Y264F	probably benign	Het
Prlr	T	C	15: 10,328,872 (GRCm39)	V449A	probably benign	Het
Rbm44	C	A	1: 91,080,764 (GRCm39)	D317E	probably damaging	Het
Sirt5	T	C	13: 43,548,283 (GRCm39)	S310P	probably damaging	Het
Spice1	T	C	16: 44,207,185 (GRCm39)	S856P	probably damaging	Het
Sptan1	T	A	2: 29,911,199 (GRCm39)		probably benign	Het
St6gal1	A	G	16: 23,140,401 (GRCm39)	K191E	probably damaging	Het
Stat6	A	T	10: 127,486,680 (GRCm39)	Q152L	probably benign	Het
Stk3	T	C	15: 35,008,371 (GRCm39)	D253G	probably damaging	Het
Tas2r139	C	T	6: 42,117,874 (GRCm39)	A2V	probably benign	Het
Topbp1	T	A	9: 103,224,207 (GRCm39)	C1445S	probably benign	Het
Trappc11	A	T	8: 47,978,081 (GRCm39)	H195Q	possibly damaging	Het
Ttc21a	A	T	9: 119,783,718 (GRCm39)	E600V	possibly damaging	Het
Ttn	T	C	2: 76,677,041 (GRCm39)		probably benign	Het
Vmn2r88	T	C	14: 51,656,007 (GRCm39)	S740P	probably damaging	Het
Wrn	A	C	8: 33,784,944 (GRCm39)	V476G	probably benign	Het
Zdbf2	C	A	1: 63,342,212 (GRCm39)	A197E	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
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
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

Predicted Primers

PCR Primer
(F):5'- CCCAAGCAGCCTCCATAGTTGAATC -3'
(R):5'- AATCAGCCACGTTATGCGCTCC -3'

Sequencing Primer
(F):5'- CATAGTTGAATCTGCGGCAC -3'
(R):5'- GGCTTAAAGGCTGCTCTTCTAG -3'

Posted On

2014-02-11