Mutagenetix > Incidental Mutation

Incidental Mutation 'R7870:Tfpi2'

608040

Institutional Source

Beutler Lab

Gene Symbol

Tfpi2

Ensembl Gene

ENSMUSG00000029664

Gene Name

tissue factor pathway inhibitor 2

Synonyms

PP5/TFPI-2

MMRRC Submission

045922-MU

Accession Numbers

Essential gene?

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

Stock #

R7870 (G1)

Quality Score

225.009

Status

Not 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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,441,505 (GRCm39)	F171L	probably benign	Het
2410137M14Rik	A	T	17: 37,288,909 (GRCm39)	C152S	unknown	Het
Alb	T	C	5: 90,620,488 (GRCm39)	F533L	possibly damaging	Het
Alox12b	T	C	11: 69,060,135 (GRCm39)	M616T	possibly damaging	Het
Atxn2l	A	G	7: 126,091,924 (GRCm39)	F968L	probably benign	Het
Cadps2	G	T	6: 23,263,641 (GRCm39)	H1227Q	probably benign	Het
Cdh18	A	T	15: 23,474,413 (GRCm39)	D761V	possibly damaging	Het
Cdkl3	T	C	11: 51,909,284 (GRCm39)		probably null	Het
Chrdl2	T	C	7: 99,659,249 (GRCm39)	L9P	unknown	Het
Ctr9	A	G	7: 110,651,618 (GRCm39)	E946G	unknown	Het
Cygb	T	A	11: 116,540,116 (GRCm39)	T178S	probably benign	Het
Cyp2c67	A	C	19: 39,597,669 (GRCm39)	M443R	probably damaging	Het
Dnah12	A	G	14: 26,578,486 (GRCm39)	T3082A	probably benign	Het
Flnc	C	T	6: 29,454,306 (GRCm39)	T1906I	probably damaging	Het
Gm14496	A	G	2: 181,637,906 (GRCm39)	I327V	probably benign	Het
Gm29106	T	A	1: 118,126,885 (GRCm39)	N192K	possibly damaging	Het
H3f3a	A	T	1: 180,639,490 (GRCm39)	M1K	probably null	Het
Htt	T	A	5: 35,055,891 (GRCm39)	W2601R	possibly damaging	Het
Il18r1	T	A	1: 40,530,296 (GRCm39)	I341K	probably benign	Het
Kcnj1	G	A	9: 32,307,881 (GRCm39)	V102I	probably benign	Het
Lrp3	C	A	7: 34,910,922 (GRCm39)	G41V	probably damaging	Het
Lrrc9	G	T	12: 72,532,964 (GRCm39)	K944N	probably damaging	Het
Mettl21e	T	A	1: 44,249,371 (GRCm39)	E95V	probably damaging	Het
Mib1	G	A	18: 10,798,446 (GRCm39)	R769Q	possibly damaging	Het
Myh7	C	G	14: 55,226,258 (GRCm39)	D461H	probably damaging	Het
Mymk	A	G	2: 26,952,298 (GRCm39)	S190P	probably damaging	Het
Neb	G	A	2: 52,215,761 (GRCm39)	P182L	probably damaging	Het
Nfil3	A	G	13: 53,122,449 (GRCm39)	Y152H	probably damaging	Het
Nisch	A	G	14: 30,894,052 (GRCm39)	Y1174H	probably damaging	Het
Nyap1	G	C	5: 137,733,658 (GRCm39)	Y458*	probably null	Het
Or4d5	A	C	9: 40,011,973 (GRCm39)	V271G	possibly damaging	Het
Or52z13	T	A	7: 103,247,473 (GRCm39)	C317S	probably damaging	Het
Or5h17	G	A	16: 58,820,086 (GRCm39)	V13I	probably benign	Het
Pars2	T	A	4: 106,511,276 (GRCm39)	Y353N	probably damaging	Het
Patj	G	T	4: 98,312,553 (GRCm39)	G297V	probably damaging	Het
Pcdh9	A	T	14: 94,124,693 (GRCm39)	S492R	probably damaging	Het
Pcyox1	G	A	6: 86,369,323 (GRCm39)	R168C	probably damaging	Het
Plbd1	A	T	6: 136,594,326 (GRCm39)	Y308N	possibly damaging	Het
Rax	A	G	18: 66,071,284 (GRCm39)	V117A	probably benign	Het
Rdh9	C	A	10: 127,612,566 (GRCm39)	N71K	probably benign	Het
Sap130	A	G	18: 31,853,714 (GRCm39)	N968S	probably benign	Het
Sema5a	A	T	15: 32,609,485 (GRCm39)	I464F	probably benign	Het
Sez6l	T	G	5: 112,586,447 (GRCm39)	D683A	probably damaging	Het
Slit2	C	A	5: 48,459,649 (GRCm39)	P1310T	probably damaging	Het
Snap47	T	C	11: 59,328,904 (GRCm39)	M133V	probably benign	Het
Son	TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC	TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC	16: 91,453,486 (GRCm39)		probably benign	Het
Srcap	G	A	7: 127,159,730 (GRCm39)	S3202N	unknown	Het
Ssh2	T	C	11: 77,344,441 (GRCm39)	W809R	probably benign	Het
Stau1	G	T	2: 166,792,870 (GRCm39)	A365D	possibly damaging	Het
Thbs1	A	T	2: 117,945,508 (GRCm39)	N329I	possibly damaging	Het
Tmem65	A	T	15: 58,659,010 (GRCm39)	D184E	probably damaging	Het
Trpm6	G	T	19: 18,792,605 (GRCm39)	E676D	probably benign	Het
Vdr	T	G	15: 97,782,771 (GRCm39)	D17A	possibly damaging	Het
Vmn1r123	C	T	7: 20,896,192 (GRCm39)	T28I	probably damaging	Het
Wdr90	A	G	17: 26,079,513 (GRCm39)	L207P	probably damaging	Het
Zfp354c	TGTCACACTCG	TG	11: 50,706,065 (GRCm39)		probably benign	Het
Zfp598	A	G	17: 24,898,304 (GRCm39)	E402G	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
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
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'- TCCCTGTAAGAGGTCAGAAGG -3'
(R):5'- AATCAGCCACGTTATGCGCTC -3'

Sequencing Primer
(F):5'- CAGATTTGGTGCCTAGCAGG -3'
(R):5'- TCTTCTAGCAGGCGACT -3'

Posted On

2019-12-20