Mutagenetix > Incidental Mutation

Incidental Mutation 'R1620:Tfpi2'

174603

Institutional Source

Beutler Lab

Gene Symbol

Tfpi2

Ensembl Gene

ENSMUSG00000029664

Gene Name

tissue factor pathway inhibitor 2

Synonyms

PP5/TFPI-2

MMRRC Submission

039657-MU

Accession Numbers

Essential gene?

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

Stock #

R1620 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3962595-3988919 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3965507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 102 (T102S)

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: T102S

PolyPhen 2 Score 0.171 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000031674
Gene: ENSMUSG00000029664
AA Change: T102S

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: 99.1%
3x: 98.1%
10x: 95.6%
20x: 90.1%

Validation Efficiency

95% (58/61)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2c2	T	C	8: 120,475,865 (GRCm39)	V586A	probably benign	Het
Atp8a2	T	A	14: 60,028,632 (GRCm39)	H945L	probably benign	Het
Bfar	G	T	16: 13,506,710 (GRCm39)	V187F	probably damaging	Het
Capn2	A	T	1: 182,344,702 (GRCm39)	I73N	probably damaging	Het
Cfc1	C	A	1: 34,575,554 (GRCm39)	A76E	possibly damaging	Het
Chl1	T	C	6: 103,667,203 (GRCm39)	F398L	probably benign	Het
Cyp2u1	A	G	3: 131,096,350 (GRCm39)	S143P	probably damaging	Het
Dlgap4	T	A	2: 156,591,056 (GRCm39)	Y57*	probably null	Het
Epha4	T	A	1: 77,351,563 (GRCm39)	R897S	probably benign	Het
Fscn2	A	T	11: 120,257,511 (GRCm39)	T291S	probably damaging	Het
Gga1	G	A	15: 78,772,670 (GRCm39)	S267N	probably damaging	Het
Gigyf2	A	G	1: 87,376,850 (GRCm39)	T1287A	probably damaging	Het
Gm10845	C	A	14: 80,100,669 (GRCm39)		noncoding transcript	Het
Gm11559	T	A	11: 99,755,882 (GRCm39)	L177Q	unknown	Het
Itga9	A	G	9: 118,672,570 (GRCm39)	T195A	probably benign	Het
Krbox5	T	C	13: 67,991,109 (GRCm39)		probably benign	Het
Lama1	A	G	17: 68,074,028 (GRCm39)	T935A	probably benign	Het
Lrrk1	G	T	7: 66,031,286 (GRCm39)	T4K	probably benign	Het
Lrrn1	G	A	6: 107,545,327 (GRCm39)	C375Y	probably damaging	Het
Maip1	T	C	1: 57,449,144 (GRCm39)		probably null	Het
Mecom	A	T	3: 30,041,237 (GRCm39)	I119N	probably damaging	Het
Mrpl2	G	A	17: 46,958,425 (GRCm39)	R69H	probably benign	Het
Muc16	A	G	9: 18,421,773 (GRCm39)	V8246A	possibly damaging	Het
Myh3	C	T	11: 66,979,562 (GRCm39)		probably benign	Het
Myocd	A	G	11: 65,087,220 (GRCm39)	S236P	probably benign	Het
Myot	A	T	18: 44,470,125 (GRCm39)	Q34L	possibly damaging	Het
Nlrp5	A	G	7: 23,118,064 (GRCm39)	D596G	probably damaging	Het
Npas2	T	C	1: 39,372,993 (GRCm39)	S415P	possibly damaging	Het
Obox2	A	G	7: 15,130,966 (GRCm39)	E66G	probably benign	Het
Or4f59	G	T	2: 111,872,591 (GRCm39)	T262K	probably benign	Het
Pcdh9	G	A	14: 94,125,741 (GRCm39)	P143L	probably damaging	Het
Phactr1	G	T	13: 43,248,373 (GRCm39)	V356L	probably damaging	Het
Pparg	A	T	6: 115,450,242 (GRCm39)	I414L	probably benign	Het
Rapgef6	A	T	11: 54,517,420 (GRCm39)	I371L	possibly damaging	Het
Rc3h1	T	C	1: 160,782,543 (GRCm39)	V674A	probably benign	Het
Rps6ka4	T	C	19: 6,815,517 (GRCm39)	Y159C	probably damaging	Het
Sf3b6	T	C	12: 4,876,808 (GRCm39)	I67T	possibly damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Spata17	T	C	1: 186,915,412 (GRCm39)		probably benign	Het
Ston1	A	G	17: 88,943,244 (GRCm39)	T217A	probably benign	Het
Tank	A	G	2: 61,480,442 (GRCm39)	D326G	possibly damaging	Het
Tbc1d9	T	A	8: 83,976,224 (GRCm39)	N594K	probably damaging	Het
Ulk4	T	G	9: 121,033,871 (GRCm39)	E589D	possibly damaging	Het
Usp40	A	T	1: 87,921,947 (GRCm39)	H305Q	probably damaging	Het
Vmn1r170	A	G	7: 23,305,754 (GRCm39)	K52R	probably benign	Het
Vmn1r194	A	G	13: 22,429,133 (GRCm39)	D250G	probably damaging	Het
Wdr6	A	T	9: 108,451,854 (GRCm39)	D676E	possibly damaging	Het
Xirp2	T	A	2: 67,341,179 (GRCm39)	V1140E	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
R1352:Tfpi2	UTSW	6	3,968,281 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2014-04-24