Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03087:Tfpi'

418148

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tfpi

Ensembl Gene

ENSMUSG00000027082

Gene Name

tissue factor pathway inhibitor

Synonyms

A630013F22Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03087

Quality Score

Status

Chromosome

Chromosomal Location

84263199-84307119 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 84274389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 199 (V199A)

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
AA Change: V206A

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000028487
Gene: ENSMUSG00000027082
AA Change: V206A

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

possibly damaging
Transcript: ENSMUST00000090732
AA Change: V206A

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000088235
Gene: ENSMUSG00000027082
AA Change: V206A

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
AA Change: V200A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000107340
Gene: ENSMUSG00000027082
AA Change: V200A

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

possibly damaging
Transcript: ENSMUST00000111714
AA Change: V206A

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107343
Gene: ENSMUSG00000027082
AA Change: V206A

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

possibly damaging
Transcript: ENSMUST00000111717
AA Change: V206A

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107346
Gene: ENSMUSG00000027082
AA Change: V206A

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
AA Change: V206A

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000107347
Gene: ENSMUSG00000027082
AA Change: V206A

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
AA Change: V200A

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000107351
Gene: ENSMUSG00000027082
AA Change: V200A

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

possibly damaging
Transcript: ENSMUST00000150261
AA Change: V199A

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000122776
Gene: ENSMUSG00000027082
AA Change: V199A

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

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500035N22Rik	C	T	5: 25,202,630 (GRCm39)		probably benign	Het
Acbd5	A	G	2: 22,979,722 (GRCm39)	T261A	probably benign	Het
Ap1g2	G	A	14: 55,340,493 (GRCm39)	T331I	probably damaging	Het
Ap4m1	A	G	5: 138,173,066 (GRCm39)	T150A	probably benign	Het
Arid4a	G	T	12: 71,122,019 (GRCm39)	R478L	possibly damaging	Het
Bard1	T	C	1: 71,106,289 (GRCm39)	D446G	probably damaging	Het
Baz2a	T	C	10: 127,958,182 (GRCm39)	L1087P	probably damaging	Het
Bnc1	A	G	7: 81,624,390 (GRCm39)	L279P	possibly damaging	Het
Bphl	A	T	13: 34,257,694 (GRCm39)	H275L	probably damaging	Het
Ces1c	T	C	8: 93,845,042 (GRCm39)	I120V	probably benign	Het
Csmd3	T	A	15: 47,840,429 (GRCm39)	Y946F	probably damaging	Het
Dnah8	G	A	17: 31,003,118 (GRCm39)	V3606I	probably benign	Het
Eef2	A	G	10: 81,017,081 (GRCm39)	N696S	probably benign	Het
Eno4	A	G	19: 58,951,248 (GRCm39)	H420R	possibly damaging	Het
Enpp1	T	A	10: 24,531,779 (GRCm39)		probably benign	Het
Fbxo25	T	C	8: 13,974,019 (GRCm39)		probably null	Het
Glt8d1	T	A	14: 30,732,053 (GRCm39)	F155I	probably damaging	Het
Golim4	A	T	3: 75,785,980 (GRCm39)	H598Q	possibly damaging	Het
Hnrnpdl	T	A	5: 100,185,460 (GRCm39)	E149D	probably damaging	Het
Ifngr2	G	T	16: 91,359,892 (GRCm39)	*333L	probably null	Het
Ift88	T	C	14: 57,715,414 (GRCm39)	S486P	probably benign	Het
Igsf9	T	C	1: 172,318,310 (GRCm39)	I150T	probably benign	Het
Jag2	G	A	12: 112,877,568 (GRCm39)	L670F	possibly damaging	Het
Kcnc2	T	A	10: 112,291,652 (GRCm39)	I280N	probably benign	Het
Kif18a	A	G	2: 109,148,462 (GRCm39)		probably benign	Het
Lct	A	G	1: 128,228,112 (GRCm39)	L1127P	possibly damaging	Het
Lonrf1	A	T	8: 36,692,705 (GRCm39)		probably null	Het
Lyst	T	A	13: 13,809,641 (GRCm39)	I437N	probably damaging	Het
Map3k1	A	G	13: 111,885,559 (GRCm39)	S1453P	probably benign	Het
Mcmdc2	A	G	1: 10,001,170 (GRCm39)	M482V	possibly damaging	Het
Mical1	T	C	10: 41,358,686 (GRCm39)	S535P	probably damaging	Het
Myh3	T	C	11: 66,981,798 (GRCm39)	F765L	probably damaging	Het
Nat8f6	A	T	6: 85,785,499 (GRCm39)	Y217N	probably damaging	Het
Ndufaf1	A	G	2: 119,486,280 (GRCm39)		probably benign	Het
Neurod6	A	T	6: 55,655,760 (GRCm39)	C292*	probably null	Het
Or12j3	T	A	7: 139,953,005 (GRCm39)	I173F	probably damaging	Het
Or4c12b	A	G	2: 89,647,015 (GRCm39)	E109G	probably damaging	Het
Or5j1	A	T	2: 86,879,356 (GRCm39)	S75T	possibly damaging	Het
Or6c76	A	T	10: 129,612,130 (GRCm39)	M116L	probably damaging	Het
Or7g16	T	C	9: 18,727,380 (GRCm39)	D70G	probably damaging	Het
Pcdhac2	A	G	18: 37,278,735 (GRCm39)	N572D	probably damaging	Het
Pfpl	A	G	19: 12,406,241 (GRCm39)	N164S	probably benign	Het
Pi4kb	A	G	3: 94,892,075 (GRCm39)	R264G	probably benign	Het
Pla2g2c	T	A	4: 138,458,923 (GRCm39)	F10I	probably benign	Het
Rag2	G	A	2: 101,460,559 (GRCm39)	V290I	probably benign	Het
Rhot2	G	A	17: 26,060,115 (GRCm39)		probably benign	Het
Rps6kc1	T	C	1: 190,603,908 (GRCm39)	Y238C	probably damaging	Het
Scyl2	G	T	10: 89,488,830 (GRCm39)	A495D	possibly damaging	Het
Septin4	T	A	11: 87,476,071 (GRCm39)		probably benign	Het
Serpina5	G	T	12: 104,067,992 (GRCm39)	A18S	probably benign	Het
Slc25a11	T	C	11: 70,536,033 (GRCm39)	T234A	probably benign	Het
Slc44a2	C	T	9: 21,258,061 (GRCm39)	T435I	probably benign	Het
Tekt2	T	A	4: 126,218,660 (GRCm39)	Q31L	possibly damaging	Het
Trap1	G	T	16: 3,862,565 (GRCm39)		probably null	Het
Trmt1	A	G	8: 85,421,862 (GRCm39)	Y213C	probably damaging	Het
Ubr4	C	T	4: 139,177,668 (GRCm39)	R3184*	probably null	Het
Uroc1	G	T	6: 90,340,085 (GRCm39)		probably benign	Het
Vmn1r19	A	G	6: 57,381,476 (GRCm39)	I10V	probably benign	Het
Zfhx2	G	A	14: 55,310,302 (GRCm39)	A748V	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
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
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

Posted On

2016-08-02