Mutagenetix > Incidental Mutation

Incidental Mutation 'R4183:Tfpi2'

319815

Institutional Source

Beutler Lab

Gene Symbol

Tfpi2

Ensembl Gene

ENSMUSG00000029664

Gene Name

tissue factor pathway inhibitor 2

Synonyms

PP5/TFPI-2

MMRRC Submission

041019-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.229) question?

Stock #

R4183 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3962595-3988919 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 3963926 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 51 (V51L)

Ref Sequence

ENSEMBL: ENSMUSP00000145193 (fasta)

Gene Model

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

AlphaFold

O35536

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031674
AA Change: V169L

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000031674
Gene: ENSMUSG00000029664
AA Change: V169L

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 damaging
Transcript: ENSMUST00000203257
AA Change: V51L

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

SMART Domains

Protein: ENSMUSP00000145193
Gene: ENSMUSG00000029664
AA Change: V51L

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: 97.2%
20x: 95.2%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd11	T	C	8: 123,626,415 (GRCm39)	I198V	possibly damaging	Het
Arhgap12	T	C	18: 6,111,734 (GRCm39)	D210G	probably damaging	Het
Arpc2	T	A	1: 74,287,322 (GRCm39)	N31K	probably damaging	Het
Atp11a	T	A	8: 12,866,990 (GRCm39)	V139D	possibly damaging	Het
Bicral	T	C	17: 47,124,955 (GRCm39)	K615E	probably damaging	Het
Ccdc27	TTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTC	4: 154,120,763 (GRCm39)		probably benign	Het
Chrnb1	T	C	11: 69,677,922 (GRCm39)	M277V	possibly damaging	Het
Csmd1	C	T	8: 15,960,464 (GRCm39)	C3317Y	probably damaging	Het
Ddx1	A	T	12: 13,281,504 (GRCm39)	L353*	probably null	Het
Degs2	T	C	12: 108,658,358 (GRCm39)	K207R	probably damaging	Het
Fam167a	T	C	14: 63,689,769 (GRCm39)	V22A	probably benign	Het
Fam186a	G	A	15: 99,831,566 (GRCm39)		probably benign	Het
Gprc5b	T	C	7: 118,583,749 (GRCm39)	D40G	probably benign	Het
Grsf1	G	A	5: 88,812,015 (GRCm39)	P271S	probably benign	Het
Inpp5j	A	G	11: 3,451,134 (GRCm39)	I505T	probably damaging	Het
Lurap1l	G	A	4: 80,872,095 (GRCm39)	S196N	probably benign	Het
Mapk8	T	C	14: 33,104,177 (GRCm39)	D413G	probably damaging	Het
Mapkbp1	A	G	2: 119,848,346 (GRCm39)	D632G	probably damaging	Het
Mcidas	A	G	13: 113,130,906 (GRCm39)	D77G	probably damaging	Het
Mdga1	A	G	17: 30,188,964 (GRCm39)	V33A	unknown	Het
Me3	A	G	7: 89,501,038 (GRCm39)	D583G	probably benign	Het
Mndal	T	A	1: 173,703,337 (GRCm39)	T23S	possibly damaging	Het
Myh13	T	C	11: 67,240,436 (GRCm39)	M780T	possibly damaging	Het
Nat10	A	G	2: 103,570,158 (GRCm39)	L395P	probably damaging	Het
Naxd	T	C	8: 11,552,757 (GRCm39)	V59A	probably damaging	Het
Nbeal2	A	T	9: 110,465,743 (GRCm39)	V876E	probably benign	Het
Or11h4b	C	G	14: 50,918,507 (GRCm39)	E195Q	probably benign	Het
Or1o2	T	G	17: 37,542,739 (GRCm39)	H174P	possibly damaging	Het
Or4a39	T	C	2: 89,236,935 (GRCm39)	T163A	probably benign	Het
Or51v8	T	C	7: 103,320,178 (GRCm39)	Y20C	possibly damaging	Het
Or8g50	A	G	9: 39,648,344 (GRCm39)	T78A	probably benign	Het
Pcdhgb8	G	C	18: 37,896,594 (GRCm39)	D555H	probably damaging	Het
Pcsk4	C	T	10: 80,160,845 (GRCm39)	R327Q	probably benign	Het
Pkhd1	C	T	1: 20,188,031 (GRCm39)	V3426I	probably benign	Het
Ranbp2	T	C	10: 58,301,488 (GRCm39)	F687L	possibly damaging	Het
Rb1	A	G	14: 73,435,966 (GRCm39)		probably null	Het
Tnn	T	C	1: 159,924,925 (GRCm39)	D1143G	probably damaging	Het
Ttn	A	G	2: 76,541,586 (GRCm39)	M25473T	probably benign	Het
Vmn1r201	A	G	13: 22,659,022 (GRCm39)	I79V	probably benign	Het
Vmn2r79	A	G	7: 86,651,099 (GRCm39)	H166R	possibly damaging	Het
Wdr25	T	A	12: 108,993,257 (GRCm39)	F491Y	probably benign	Het
Zfp972	G	A	2: 177,563,250 (GRCm39)	Q56*	probably null	Het
Zfp982	A	G	4: 147,597,150 (GRCm39)	K169R	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
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'- CAGAATGCTGTATTTGACTTTGGAGC -3'
(R):5'- GTCCCAGTGACTCGAGATAGAC -3'

Sequencing Primer
(F):5'- GCTGTATTTGACTTTGGAGCTATTC -3'
(R):5'- GACTCGAGATAGACCTGTTTTGAATG -3'

Posted On

2015-06-10