Mutagenetix > Incidental Mutations

Incidental Mutation 'R7145:F3'

553693

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000028128

Gene Name

coagulation factor III

Synonyms

TF, Cf3, tissue factor, Cf-3, CD142

MMRRC Submission

Accession Numbers

Genbank: NM_010171

Is this an essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R7145 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121723537-121735048 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 121731586 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 159 (V159L)

Ref Sequence

ENSEMBL: ENSMUSP00000029771 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029771]

Predicted Effect

probably damaging
Transcript: ENSMUST00000029771
AA Change: V159L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000029771
Gene: ENSMUSG00000028128
AA Change: V159L

Domain	Start	End	E-Value	Type
Pfam:Tissue_fac	12	110	1.1e-26	PFAM
Pfam:Interfer-bind	138	245	5.1e-26	PFAM
transmembrane domain	253	275	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199997
AA Change: V24L

PolyPhen 2 Score 0.748 (Sensitivity: 0.85; Specificity: 0.92)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a membrane-bound glycoprotein that forms the primary physiological initiator of the blood coagulation process following vascular damage. The encoded protein binds to coagulation factor VIIa and the ensuing complex catalyzes the proteolytic activation of coagulation factors IX and X. Mice lacking encoded protein die in utero resulting from massive hemorrhaging in both extraembryonic and embryonic vessels. A severe deficiency of the encoded protein in mice results in impaired uterine homeostasis, shorter life spans due to spontaneous fatal hemorrhages and cardiac fibrosis. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygotes for targeted null mutations exhibit impaired blood vessel development, retarded growth, and, in most cases, midgestational lethality. On a mixed background, some mutants survive to birth and appear to be normal. [provided by MGI curators]

Allele List at MGI

All alleles(7) : Targeted, knock-out(5) Targeted, other(2)

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,070,059	Y1670H	probably damaging	Het
Abca12	T	C	1: 71,307,053	K886R	possibly damaging	Het
Adcy3	G	A	12: 4,200,992	E584K	probably benign	Het
Ano3	A	T	2: 110,862,860	V131D	probably benign	Het
Arhgdig	C	T	17: 26,199,363	W215*	probably null	Het
Cad	G	T	5: 31,067,612	W953L	possibly damaging	Het
Calhm2	T	C	19: 47,135,641	Y88C	probably benign	Het
Cdk5rap2	A	T	4: 70,238,231	D1681E	probably benign	Het
Cenpl	T	A	1: 161,082,912	L143H	possibly damaging	Het
Cherp	T	C	8: 72,468,386	K270E		Het
Cmss1	A	G	16: 57,311,355	I136T	probably benign	Het
Col23a1	T	C	11: 51,565,223		probably null	Het
Crnn	C	A	3: 93,148,382	D158E	probably damaging	Het
Dnmt3a	A	T	12: 3,872,844	Q149L	probably benign	Het
Dst	T	A	1: 34,189,882	N2185K	probably benign	Het
Elp2	T	A	18: 24,604,069	N25K	probably benign	Het
Ephb4	A	T	5: 137,372,046	D845V	probably damaging	Het
Esyt3	T	C	9: 99,319,574	T561A	probably damaging	Het
Fam81a	A	T	9: 70,110,278	D128E	probably damaging	Het
Flot1	T	G	17: 35,824,943	H155Q	probably benign	Het
Fut9	T	A	4: 25,620,507	K102N	probably damaging	Het
Gm16368	G	T	12: 88,083,827	C44F	probably benign	Het
Gm6309	T	C	5: 146,170,290	Q82R	possibly damaging	Het
H13	A	G	2: 152,681,072	N102D	probably damaging	Het
Lamc2	C	G	1: 153,130,772	A878P	possibly damaging	Het
Lepr	C	T	4: 101,752,197	T327I	probably benign	Het
Lrp2	A	G	2: 69,454,808		probably null	Het
Ly86	A	G	13: 37,377,010	K116E	probably damaging	Het
Mapk8ip2	T	A	15: 89,458,998	F648I	possibly damaging	Het
Muc16	G	A	9: 18,655,580	T1881I	unknown	Het
Myh13	T	G	11: 67,354,740	S1069A	probably benign	Het
Myh4	T	A	11: 67,260,228	I1903N	possibly damaging	Het
Myo18b	A	T	5: 112,817,679	L1341*	probably null	Het
Naa25	G	T	5: 121,417,489		probably null	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Ncapg	C	T	5: 45,670,030	A3V	possibly damaging	Het
Ncln	T	C	10: 81,488,252	H481R	probably benign	Het
Nek4	C	A	14: 30,982,348	Q607K	probably damaging	Het
Neo1	T	C	9: 58,889,179	Y1182C	probably damaging	Het
Npnt	T	C	3: 132,909,931	N165S	probably benign	Het
Olfr1076	T	C	2: 86,508,528	L23P	probably damaging	Het
Olfr1184	C	T	2: 88,487,377	S215L	probably damaging	Het
Olfr145	A	G	9: 37,897,563	H53R	probably benign	Het
Olfr167	C	G	16: 19,514,899	V246L	probably damaging	Het
Otulin	T	C	15: 27,608,770	Y229C	probably damaging	Het
Palld	A	T	8: 61,532,017	D1071E	unknown	Het
Pcdhb20	T	C	18: 37,505,089	S223P	probably damaging	Het
Pcdhga6	T	A	18: 37,707,728	I167N	probably damaging	Het
Pcdhgb4	A	G	18: 37,721,790	N413D	probably benign	Het
Pcdhgb8	T	A	18: 37,762,997	Y373*	probably null	Het
Plxna2	G	T	1: 194,649,522	V419L	probably benign	Het
Rpgrip1l	A	T	8: 91,232,806		probably null	Het
Rsrc2	A	G	5: 123,739,567		probably benign	Het
Scaper	C	T	9: 55,912,111	D107N	unknown	Het
Scgb2b3	T	A	7: 31,360,148	Y67F	probably benign	Het
Scn5a	G	A	9: 119,486,371	T1757I	probably damaging	Het
Sgo2b	G	A	8: 63,928,184	P538L	probably damaging	Het
Slc9a3	A	G	13: 74,150,678	K72R	probably damaging	Het
Smchd1	T	A	17: 71,378,207	T1409S	probably benign	Het
Stab1	A	T	14: 31,145,073		probably null	Het
Sult2b1	T	C	7: 45,733,632	E242G	probably damaging	Het
Tcaf1	A	T	6: 42,686,753	H64Q	probably damaging	Het
Tle6	T	C	10: 81,600,076	T2A	possibly damaging	Het
Tmem115	T	C	9: 107,535,086	V203A	probably benign	Het
Tmem45b	G	A	9: 31,429,041	T108I	probably damaging	Het
Tmf1	A	T	6: 97,176,118	D331E	probably damaging	Het
Txndc9	T	C	1: 37,990,296	Y157C	probably damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r27	C	A	6: 124,191,752	R806S	probably benign	Het
Vmn2r59	G	A	7: 42,045,764	A408V	probably damaging	Het
Ythdc1	T	C	5: 86,816,608	V92A	probably benign	Het

Other mutations in F3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02506:F3	APN	3	121731674	missense	possibly damaging	0.83
G5030:F3	UTSW	3	121724999	missense	probably damaging	1.00
R0020:F3	UTSW	3	121731616	missense	probably damaging	1.00
R0020:F3	UTSW	3	121731616	missense	probably damaging	1.00
R0622:F3	UTSW	3	121725019	missense	probably damaging	1.00
R1367:F3	UTSW	3	121729374	missense	probably damaging	0.98
R1371:F3	UTSW	3	121732510	missense	probably damaging	1.00
R1925:F3	UTSW	3	121729383	missense	probably damaging	1.00
R2100:F3	UTSW	3	121732433	missense	possibly damaging	0.61
R2366:F3	UTSW	3	121732545	splice site	probably null
R2471:F3	UTSW	3	121725040	missense	probably damaging	1.00
R4577:F3	UTSW	3	121734114	missense	probably benign	0.02
R5752:F3	UTSW	3	121732404	missense	probably damaging	1.00
R6440:F3	UTSW	3	121725037	missense	probably damaging	1.00
R6713:F3	UTSW	3	121731674	missense	possibly damaging	0.83
R6845:F3	UTSW	3	121732475	missense	probably benign	0.02
R6867:F3	UTSW	3	121729371	missense	possibly damaging	0.93
R7511:F3	UTSW	3	121731557	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GAGACTCAGCTACAAGACCG -3'
(R):5'- CAAGCATGCTGTGGAGAATC -3'

Sequencing Primer
(F):5'- CTACTGGAGCTGATTCTGTACAG -3'
(R):5'- CATGCTGTGGAGAATCAAAGATC -3'

Posted On

2019-05-15