Mutagenetix > Incidental Mutation

Incidental Mutation 'R3085:Tfpi'

477677

Institutional Source

Beutler Lab

Gene Symbol

Tfpi

Ensembl Gene

ENSMUSG00000027082

Gene Name

tissue factor pathway inhibitor

Synonyms

A630013F22Rik

MMRRC Submission

040574-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3085 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84263199-84307119 bp(-) (GRCm39)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

A to G at 84273227 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

unknown
Transcript: ENSMUST00000090732
AA Change: L232P

SMART Domains

Protein: ENSMUSP00000088235
Gene: ENSMUSG00000027082
AA Change: L232P

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

unknown
Transcript: ENSMUST00000111714
AA Change: L232P

SMART Domains

Protein: ENSMUSP00000107343
Gene: ENSMUSG00000027082
AA Change: L232P

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

unknown
Transcript: ENSMUST00000111717
AA Change: L232P

SMART Domains

Protein: ENSMUSP00000107346
Gene: ENSMUSG00000027082
AA Change: L232P

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

noncoding transcript
Transcript: ENSMUST00000144775

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (63/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	A	8: 87,270,536 (GRCm39)		probably benign	Het
Adrm1	T	C	2: 179,816,094 (GRCm39)		probably null	Het
Aldh18a1	T	C	19: 40,562,813 (GRCm39)	I76V	probably benign	Het
Atp1b2	T	C	11: 69,493,705 (GRCm39)	K125E	possibly damaging	Het
Cabyr	T	C	18: 12,884,023 (GRCm39)	V170A	probably damaging	Het
Cdh8	T	C	8: 99,923,018 (GRCm39)	T293A	probably benign	Het
Cenpc1	A	T	5: 86,185,476 (GRCm39)	V345D	probably benign	Het
Col4a3	A	G	1: 82,628,979 (GRCm39)	E131G	unknown	Het
Col4a4	C	T	1: 82,507,285 (GRCm39)		probably null	Het
Creb3l1	G	T	2: 91,825,789 (GRCm39)		probably null	Het
Dhx9	T	C	1: 153,341,445 (GRCm39)	D601G	probably benign	Het
Dipk1a	G	T	5: 108,062,290 (GRCm39)	D28E	probably damaging	Het
Dnaaf4	T	A	9: 72,879,688 (GRCm39)	N289K	probably benign	Het
Eml6	T	C	11: 29,759,332 (GRCm39)	E807G	probably damaging	Het
Exog	C	A	9: 119,291,518 (GRCm39)	T241K	probably benign	Het
Eya1	T	C	1: 14,344,314 (GRCm39)	D109G	probably benign	Het
Fat2	C	T	11: 55,142,997 (GRCm39)	R4284H	possibly damaging	Het
Fbxw13	C	A	9: 109,013,299 (GRCm39)	G130*	probably null	Het
Fcrl5	A	G	3: 87,353,771 (GRCm39)	Y372C	probably damaging	Het
Gli3	T	C	13: 15,835,526 (GRCm39)	S435P	probably damaging	Het
Gsg1l	C	T	7: 125,490,852 (GRCm39)	R284H	probably benign	Het
Havcr1	C	T	11: 46,647,052 (GRCm39)	T162I	probably damaging	Het
Igdcc4	T	C	9: 65,039,340 (GRCm39)	F947S	probably damaging	Het
Irx1	G	T	13: 72,111,411 (GRCm39)	A66E	probably damaging	Het
Klf11	T	C	12: 24,705,490 (GRCm39)	S315P	probably benign	Het
Kynu	A	G	2: 43,492,312 (GRCm39)	M190V	probably benign	Het
Lrp2	T	C	2: 69,297,479 (GRCm39)	T3161A	probably benign	Het
Macrod1	G	T	19: 7,173,859 (GRCm39)	A208S	probably damaging	Het
Mamdc2	G	A	19: 23,288,296 (GRCm39)	H581Y	possibly damaging	Het
Megf8	T	A	7: 25,048,444 (GRCm39)	Y1706N	probably damaging	Het
Mthfd1l	G	A	10: 4,040,007 (GRCm39)	R806H	probably benign	Het
Nags	T	A	11: 102,036,810 (GRCm39)	V133D	probably damaging	Het
Nrg3	C	A	14: 38,092,906 (GRCm39)	D560Y	probably damaging	Het
Or4f60	C	A	2: 111,902,320 (GRCm39)	G203*	probably null	Het
Or4k36	A	G	2: 111,146,461 (GRCm39)	I212M	probably benign	Het
Or4p23	A	G	2: 88,576,488 (GRCm39)	F248S	probably damaging	Het
Or5af2	T	C	11: 58,708,553 (GRCm39)	S240P	probably damaging	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
Pde6d	T	C	1: 86,475,248 (GRCm39)		probably null	Het
Plekhf1	T	C	7: 37,921,001 (GRCm39)	E189G	probably benign	Het
Ppm1b	A	T	17: 85,321,288 (GRCm39)	I477L	probably benign	Het
Rad51ap2	C	A	12: 11,506,758 (GRCm39)	Q227K	possibly damaging	Het
Rnf125	T	C	18: 21,110,787 (GRCm39)	V15A	probably benign	Het
Rnps1	C	T	17: 24,631,393 (GRCm39)		probably benign	Het
Robo1	A	G	16: 72,798,898 (GRCm39)	I953V	possibly damaging	Het
Sash1	A	T	10: 8,618,186 (GRCm39)		probably null	Het
Smarcc2	T	C	10: 128,324,028 (GRCm39)		probably benign	Het
Stx12	T	A	4: 132,584,672 (GRCm39)	E224V	probably damaging	Het
Sun1	T	C	5: 139,221,356 (GRCm39)	V357A	probably benign	Het
Synpo2l	T	C	14: 20,712,248 (GRCm39)	D350G	probably damaging	Het
Tex15	A	T	8: 34,064,913 (GRCm39)	N1448Y	probably benign	Het
Tktl2	T	A	8: 66,965,858 (GRCm39)	M472K	possibly damaging	Het
Tmem40	T	C	6: 115,718,576 (GRCm39)	D43G	possibly damaging	Het
Tshz2	T	A	2: 169,725,871 (GRCm39)	C156S	probably benign	Het
Vmn2r101	T	A	17: 19,809,077 (GRCm39)		probably null	Het
Vmn2r85	T	C	10: 130,261,081 (GRCm39)	M419V	probably benign	Het
Wdr73	G	A	7: 80,550,990 (GRCm39)		probably benign	Het
Zc3hc1	C	T	6: 30,374,763 (GRCm39)		probably null	Het
Zfhx3	T	C	8: 109,682,664 (GRCm39)	Y3368H	unknown	Het
Zfp263	G	A	16: 3,567,580 (GRCm39)	E632K	probably damaging	Het
Zfp266	A	G	9: 20,412,240 (GRCm39)	L111P	probably damaging	Het
Zfp626	T	A	7: 27,517,587 (GRCm39)	S189R	probably benign	Het
Zfp772	T	C	7: 7,206,699 (GRCm39)	R331G	possibly damaging	Het
Zkscan5	G	A	5: 145,157,889 (GRCm39)	C797Y	probably 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
R1991:Tfpi	UTSW	2	84,288,360 (GRCm39)	splice site	probably benign
R2910:Tfpi	UTSW	2	84,274,437 (GRCm39)	missense	possibly damaging	0.93
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

Posted On

2017-05-15