Mutagenetix > Incidental Mutation

Incidental Mutation 'R1991:Tfpi'

225069

Institutional Source

Beutler Lab

Gene Symbol

Tfpi

Ensembl Gene

ENSMUSG00000027082

Gene Name

tissue factor pathway inhibitor

Synonyms

A630013F22Rik

MMRRC Submission

040002-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1991 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84263199-84307119 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 84288360 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122776 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028487] [ENSMUST00000090732] [ENSMUST00000111711] [ENSMUST00000111714] [ENSMUST00000111717] [ENSMUST00000111718] [ENSMUST00000111722] [ENSMUST00000150261]

AlphaFold

O54819

Predicted Effect

probably benign
Transcript: ENSMUST00000028487

SMART Domains

Protein: ENSMUSP00000028487
Gene: ENSMUSG00000027082

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
KU	48	101	4.4e-25	SMART
KU	119	172	7.97e-23	SMART
KU	223	276	2.25e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000090732

SMART Domains

Protein: ENSMUSP00000088235
Gene: ENSMUSG00000027082

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
KU	48	101	4.4e-25	SMART
KU	119	172	7.97e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111711

SMART Domains

Protein: ENSMUSP00000107340
Gene: ENSMUSG00000027082

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
KU	48	101	4.4e-25	SMART
KU	119	172	7.97e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111714

SMART Domains

Protein: ENSMUSP00000107343
Gene: ENSMUSG00000027082

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
KU	48	101	4.4e-25	SMART
KU	119	172	7.97e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111717

SMART Domains

Protein: ENSMUSP00000107346
Gene: ENSMUSG00000027082

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
KU	48	101	4.4e-25	SMART
KU	119	172	7.97e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111718

SMART Domains

Protein: ENSMUSP00000107347
Gene: ENSMUSG00000027082

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
KU	48	101	4.4e-25	SMART
KU	119	172	7.97e-23	SMART
KU	223	276	2.25e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000111722

SMART Domains

Protein: ENSMUSP00000107351
Gene: ENSMUSG00000027082

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
KU	48	101	4.4e-25	SMART
KU	119	172	7.97e-23	SMART
KU	217	270	2.25e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150261

SMART Domains

Protein: ENSMUSP00000122776
Gene: ENSMUSG00000027082

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
KU	41	94	4.4e-25	SMART
KU	112	165	7.97e-23	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144775

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

100% (124/124)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Kunitz-type serine protease inhibitor that regulates the tissue factor (TF)-dependent pathway of blood coagulation. The coagulation process initiates with the formation of a factor VIIa-TF complex, which proteolytically activates additional proteases (factors IX and X) and ultimately leads to the formation of a fibrin clot. The product of this gene inhibits the activated factor X and VIIa-TF proteases in an autoregulatory loop. Inhibition of the encoded protein restores hemostasis in animal models of hemophilia. This gene encodes multiple protein isoforms that differ in their inhibitory activity, specificity and cellular localization. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous mutant embryos die showing hemorrhages of the yolk sac, central nervous system, and tail. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,771,419 (GRCm39)	R203*	probably null	Het
Abcc2	A	T	19: 43,795,581 (GRCm39)	I446F	probably damaging	Het
Afap1l2	A	T	19: 56,990,699 (GRCm39)	I18N	possibly damaging	Het
Aida	A	T	1: 183,094,627 (GRCm39)	E107D	probably benign	Het
Amer2	A	G	14: 60,617,269 (GRCm39)	Y362C	probably damaging	Het
Amigo1	T	C	3: 108,094,644 (GRCm39)	S48P	probably benign	Het
Ano5	A	G	7: 51,187,561 (GRCm39)	K50R	possibly damaging	Het
Anxa2	A	T	9: 69,391,098 (GRCm39)	D95V	probably damaging	Het
Arhgap22	A	G	14: 33,088,916 (GRCm39)	N466D	probably damaging	Het
Armc3	T	C	2: 19,297,953 (GRCm39)	Y575H	probably damaging	Het
Ascc2	A	G	11: 4,629,257 (GRCm39)	E523G	probably benign	Het
B3galt5	A	T	16: 96,117,225 (GRCm39)	K286M	probably damaging	Het
Bag3	C	T	7: 128,147,407 (GRCm39)	H341Y	probably benign	Het
Blm	G	T	7: 80,155,697 (GRCm39)		probably null	Het
Cacna1b	G	A	2: 24,622,318 (GRCm39)	P222L	probably damaging	Het
Cap2	T	A	13: 46,791,357 (GRCm39)	Y175N	possibly damaging	Het
Cd81	G	T	7: 142,620,938 (GRCm39)	G206*	probably null	Het
Cep290	T	A	10: 100,367,046 (GRCm39)	S1132R	possibly damaging	Het
Cluh	C	A	11: 74,550,355 (GRCm39)	C222*	probably null	Het
Col14a1	A	T	15: 55,313,336 (GRCm39)	D1320V	unknown	Het
Col18a1	T	C	10: 76,916,988 (GRCm39)	I114V	unknown	Het
Cped1	A	G	6: 22,233,926 (GRCm39)	T847A	probably damaging	Het
Cpne7	A	G	8: 123,854,176 (GRCm39)	K288E	possibly damaging	Het
Cr2	G	A	1: 194,836,458 (GRCm39)	P1278S	possibly damaging	Het
Creb3	C	A	4: 43,565,327 (GRCm39)	R202S	probably damaging	Het
Cyp2j9	T	A	4: 96,460,201 (GRCm39)	K434M	probably damaging	Het
Dnai3	G	T	3: 145,769,235 (GRCm39)	T522K	possibly damaging	Het
Dpp10	A	T	1: 123,832,833 (GRCm39)	V48E	probably null	Het
Dsg2	A	G	18: 20,734,530 (GRCm39)	K836R	probably damaging	Het
Dst	A	G	1: 34,229,339 (GRCm39)	T1986A	probably benign	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Ecm2	A	G	13: 49,683,732 (GRCm39)	D570G	probably benign	Het
Efhc1	T	A	1: 21,059,784 (GRCm39)	C611*	probably null	Het
Epop	T	C	11: 97,519,480 (GRCm39)	T210A	probably benign	Het
Erc2	A	G	14: 27,733,593 (GRCm39)	I556V	probably benign	Het
Fdxacb1	A	T	9: 50,682,946 (GRCm39)	N101I	probably benign	Het
Fhad1	T	C	4: 141,709,473 (GRCm39)	S294G	possibly damaging	Het
Galnt16	A	G	12: 80,630,430 (GRCm39)	D262G	probably damaging	Het
Gorab	A	G	1: 163,224,625 (GRCm39)	S59P	probably damaging	Het
Gpr161	G	T	1: 165,134,132 (GRCm39)	M131I	probably damaging	Het
Gpr22	T	A	12: 31,759,202 (GRCm39)	M270L	probably benign	Het
Grin3b	C	A	10: 79,806,746 (GRCm39)	Q5K	probably benign	Het
Grin3b	C	T	10: 79,810,480 (GRCm39)	A662V	probably damaging	Het
Gsdmc	A	G	15: 63,673,748 (GRCm39)	I179T	probably benign	Het
Gsdmc2	T	A	15: 63,700,086 (GRCm39)	M229L	probably benign	Het
H2-Eb2	A	G	17: 34,553,278 (GRCm39)	I155V	probably benign	Het
Hoga1	A	C	19: 42,048,459 (GRCm39)		probably null	Het
Hs3st5	A	G	10: 36,708,882 (GRCm39)	Y139C	probably damaging	Het
Il10ra	C	A	9: 45,167,109 (GRCm39)	A481S	probably benign	Het
Ints2	T	A	11: 86,139,760 (GRCm39)	H278L	possibly damaging	Het
Kalrn	T	G	16: 33,796,108 (GRCm39)	L1222F	probably damaging	Het
Klhl25	T	A	7: 75,516,480 (GRCm39)	V157D	probably damaging	Het
Klk1b26	A	T	7: 43,666,324 (GRCm39)	T256S	probably damaging	Het
Krt81	T	C	15: 101,360,435 (GRCm39)	Q184R	probably benign	Het
Lce1k	A	T	3: 92,714,125 (GRCm39)	C20S	unknown	Het
Letm1	A	AG	5: 33,926,859 (GRCm39)		probably null	Het
Lin54	A	G	5: 100,633,660 (GRCm39)		probably null	Het
Lrrc37a	T	C	11: 103,391,087 (GRCm39)	E1446G	probably benign	Het
Macf1	A	G	4: 123,350,488 (GRCm39)	S3792P	probably damaging	Het
Manba	T	A	3: 135,256,952 (GRCm39)	D538E	probably benign	Het
Mcc	C	A	18: 44,624,382 (GRCm39)	E213*	probably null	Het
Mfap4	T	C	11: 61,376,633 (GRCm39)		probably null	Het
Muc21	A	T	17: 35,929,600 (GRCm39)	S1529T	probably benign	Het
Nebl	T	A	2: 17,457,321 (GRCm39)	I80F	probably damaging	Het
Nek4	A	G	14: 30,678,910 (GRCm39)	I145V	probably damaging	Het
Nlrp14	T	C	7: 106,795,407 (GRCm39)	V230A	probably benign	Het
Nxf3	G	A	X: 134,976,583 (GRCm39)	P380S	possibly damaging	Het
Or11h6	G	A	14: 50,880,323 (GRCm39)	C195Y	possibly damaging	Het
Or1a1	T	C	11: 74,086,989 (GRCm39)	V220A	probably damaging	Het
Or5b99	T	C	19: 12,976,866 (GRCm39)	V172A	possibly damaging	Het
Or5p66	C	A	7: 107,885,566 (GRCm39)	G256*	probably null	Het
Or6k8-ps1	C	T	1: 173,979,687 (GRCm39)	H202Y	probably damaging	Het
Pcdhb13	C	T	18: 37,576,912 (GRCm39)	T430I	possibly damaging	Het
Piezo2	A	T	18: 63,207,733 (GRCm39)	L1426Q	probably null	Het
Pigk	T	A	3: 152,450,131 (GRCm39)	Y212N	probably damaging	Het
Pigm	T	G	1: 172,204,828 (GRCm39)	L188R	probably damaging	Het
Plce1	T	C	19: 38,766,368 (GRCm39)	F2117S	probably damaging	Het
Plec	A	G	15: 76,057,743 (GRCm39)	F4055L	probably damaging	Het
Plk5	C	T	10: 80,198,936 (GRCm39)	S435L	possibly damaging	Het
Pms1	G	A	1: 53,321,201 (GRCm39)	L11F	probably damaging	Het
Prl3b1	C	T	13: 27,431,895 (GRCm39)	T140I	possibly damaging	Het
Prl7a1	T	G	13: 27,817,655 (GRCm39)	D203A	probably damaging	Het
Psg17	A	G	7: 18,548,577 (GRCm39)	V398A	probably benign	Het
Pum1	T	A	4: 130,445,529 (GRCm39)	I166K	possibly damaging	Het
R3hdm1	T	A	1: 128,096,753 (GRCm39)	D108E	probably damaging	Het
Reln	A	T	5: 22,174,358 (GRCm39)	D1948E	possibly damaging	Het
Rnf112	C	T	11: 61,343,252 (GRCm39)	R141Q	probably damaging	Het
Rnf145	T	C	11: 44,452,293 (GRCm39)	V424A	possibly damaging	Het
Serpina3m	C	A	12: 104,355,958 (GRCm39)	Y208*	probably null	Het
Serpind1	T	C	16: 17,160,808 (GRCm39)	V446A	probably benign	Het
Shc3	T	A	13: 51,596,872 (GRCm39)	M384L	probably benign	Het
Slc38a11	A	G	2: 65,160,683 (GRCm39)	F304L	probably benign	Het
Slpi	C	T	2: 164,197,463 (GRCm39)	C28Y	probably damaging	Het
Specc1	C	A	11: 61,920,120 (GRCm39)	P7T	possibly damaging	Het
Spib	T	C	7: 44,178,281 (GRCm39)	E180G	probably benign	Het
Spint5	T	C	2: 164,558,903 (GRCm39)		probably benign	Het
Ssr2	T	A	3: 88,484,174 (GRCm39)		probably benign	Het
Tbrg1	T	C	9: 37,560,715 (GRCm39)	D387G	probably benign	Het
Tex14	T	G	11: 87,440,296 (GRCm39)	L1367R	probably damaging	Het
Tlr5	T	A	1: 182,801,912 (GRCm39)	D405E	probably damaging	Het
Tnnt3	C	T	7: 142,065,262 (GRCm39)	R131C	possibly damaging	Het
Tnxb	T	C	17: 34,890,878 (GRCm39)	V407A	probably damaging	Het
Tnxb	A	G	17: 34,901,225 (GRCm39)	Y1013C	probably damaging	Het
Tpx2	T	A	2: 152,732,544 (GRCm39)	M606K	probably benign	Het
Trim30a	T	A	7: 104,079,437 (GRCm39)		probably benign	Het
Trim46	A	T	3: 89,145,008 (GRCm39)	Y489N	probably damaging	Het
Trpm6	A	T	19: 18,773,648 (GRCm39)	H380L	probably benign	Het
Tstd2	A	G	4: 46,120,563 (GRCm39)	I279T	probably benign	Het
Ttn	C	T	2: 76,776,735 (GRCm39)		probably null	Het
Txnl1	T	C	18: 63,812,585 (GRCm39)	T70A	probably benign	Het
Ush2a	C	T	1: 188,310,729 (GRCm39)		probably benign	Het
Usp1	A	G	4: 98,822,531 (GRCm39)	D615G	probably benign	Het
Virma	T	A	4: 11,519,242 (GRCm39)	C830S	probably benign	Het
Vmn1r7	A	T	6: 57,001,853 (GRCm39)	S136T	probably benign	Het
Vmn2r9	A	G	5: 108,994,305 (GRCm39)	V448A	probably damaging	Het
Vps11	G	A	9: 44,270,524 (GRCm39)	H183Y	probably damaging	Het
Vsig10l	A	G	7: 43,116,892 (GRCm39)	T476A	possibly damaging	Het
Whamm	C	T	7: 81,241,519 (GRCm39)	R277*	probably null	Het
Wnt8a	A	G	18: 34,677,937 (GRCm39)	D115G	probably damaging	Het
Xndc1	T	A	7: 101,722,398 (GRCm39)	V21E	probably damaging	Het
Zc3hav1	C	A	6: 38,313,452 (GRCm39)	V198L	probably damaging	Het
Zfp874a	T	A	13: 67,590,623 (GRCm39)	I354F	probably benign	Het
Zfr2	A	T	10: 81,078,686 (GRCm39)	D306V	possibly damaging	Het

Other mutations in Tfpi

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01484:Tfpi	APN	2	84,275,169 (GRCm39)	nonsense	probably null
IGL01860:Tfpi	APN	2	84,274,378 (GRCm39)	missense	probably benign	0.00
IGL02434:Tfpi	APN	2	84,282,892 (GRCm39)	splice site	probably benign
IGL03087:Tfpi	APN	2	84,274,389 (GRCm39)	missense	possibly damaging	0.61
I1329:Tfpi	UTSW	2	84,274,460 (GRCm39)	missense	possibly damaging	0.77
R0883:Tfpi	UTSW	2	84,273,664 (GRCm39)	splice site	probably benign
R1069:Tfpi	UTSW	2	84,284,136 (GRCm39)	splice site	probably benign
R1577:Tfpi	UTSW	2	84,263,447 (GRCm39)	missense	probably damaging	0.97
R1854:Tfpi	UTSW	2	84,288,451 (GRCm39)	missense	probably benign	0.00
R2910:Tfpi	UTSW	2	84,274,437 (GRCm39)	missense	possibly damaging	0.93
R3085:Tfpi	UTSW	2	84,273,227 (GRCm39)	utr 3 prime	probably benign
R4403:Tfpi	UTSW	2	84,275,206 (GRCm39)	missense	probably damaging	0.98
R4473:Tfpi	UTSW	2	84,288,426 (GRCm39)	missense	probably null	1.00
R4878:Tfpi	UTSW	2	84,282,899 (GRCm39)	critical splice donor site	probably null
R5810:Tfpi	UTSW	2	84,264,768 (GRCm39)	intron	probably benign
R5949:Tfpi	UTSW	2	84,275,092 (GRCm39)	missense	probably benign	0.37
R6899:Tfpi	UTSW	2	84,275,153 (GRCm39)	missense	probably damaging	1.00
R8024:Tfpi	UTSW	2	84,284,266 (GRCm39)	missense	possibly damaging	0.86
R9068:Tfpi	UTSW	2	84,273,235 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GAAATGACTTGATTTCGGGTAGTC -3'
(R):5'- TAGCCTACAGATGCAGCCAC -3'

Sequencing Primer
(F):5'- CTATCAAGCTGGGTTGTAACAGGC -3'
(R):5'- AGCCACACTGATTGCTTATTAAG -3'

Posted On

2014-08-25