Mutagenetix > Incidental Mutation

Incidental Mutation 'R1925:F3'

213333

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000028128

Gene Name

coagulation factor III

Synonyms

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

MMRRC Submission

039943-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R1925 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121517186-121528697 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121523032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 81 (T81S)

Ref Sequence

ENSEMBL: ENSMUSP00000029771 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000029771
AA Change: T81S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029771
Gene: ENSMUSG00000028128
AA Change: T81S

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

noncoding transcript
Transcript: ENSMUST00000196746

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197731

Predicted Effect

probably benign
Transcript: ENSMUST00000199997

Meta Mutation Damage Score

0.3562

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.2%

Validation Efficiency

99% (79/80)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,617,333 (GRCm39)	H577R	probably damaging	Het
Acvr1	T	C	2: 58,337,661 (GRCm39)	M474V	probably damaging	Het
Adam1a	A	T	5: 121,657,513 (GRCm39)	C593*	probably null	Het
Agap2	A	G	10: 126,926,744 (GRCm39)	N927S	probably damaging	Het
Ahctf1	T	C	1: 179,598,218 (GRCm39)	H958R	probably damaging	Het
Apaf1	A	G	10: 90,835,581 (GRCm39)	V1088A	probably damaging	Het
Brpf1	G	T	6: 113,296,891 (GRCm39)	K958N	probably damaging	Het
Cadps	A	G	14: 12,705,726 (GRCm38)	I223T	probably damaging	Het
Catsperg2	T	C	7: 29,397,189 (GRCm39)	M1105V	probably benign	Het
Clasp2	T	A	9: 113,735,265 (GRCm39)	F1033L	possibly damaging	Het
Col4a3	T	A	1: 82,678,094 (GRCm39)	I1232N	unknown	Het
Col4a3	T	G	1: 82,689,595 (GRCm39)		probably benign	Het
Comtd1	T	G	14: 21,897,731 (GRCm39)	E134A	probably damaging	Het
Cyp2c55	A	T	19: 39,022,821 (GRCm39)	T320S	probably benign	Het
Dlx2	T	C	2: 71,376,522 (GRCm39)	N72S	probably benign	Het
Dnhd1	T	A	7: 105,301,459 (GRCm39)	V272E	probably damaging	Het
Dnhd1	T	A	7: 105,323,061 (GRCm39)	I523N	probably damaging	Het
Dpysl3	T	A	18: 43,465,996 (GRCm39)	I140F	probably damaging	Het
Elmod2	G	A	8: 84,048,093 (GRCm39)	A123V	probably benign	Het
Etv4	T	C	11: 101,662,507 (GRCm39)		probably benign	Het
Faf2	C	T	13: 54,799,865 (GRCm39)	A224V	probably damaging	Het
Fbn1	A	T	2: 125,205,549 (GRCm39)	M1109K	probably damaging	Het
Fnbp4	A	G	2: 90,596,187 (GRCm39)	E586G	probably damaging	Het
Gm10428	G	T	11: 62,644,179 (GRCm39)		probably benign	Het
Gm5884	A	T	6: 128,622,050 (GRCm39)		noncoding transcript	Het
Gm6471	T	A	7: 142,385,319 (GRCm39)		noncoding transcript	Het
Gtse1	T	C	15: 85,757,939 (GRCm39)	V515A	probably benign	Het
H2-M2	T	C	17: 37,793,391 (GRCm39)	E205G	probably damaging	Het
Ido1	T	A	8: 25,075,306 (GRCm39)	T259S	possibly damaging	Het
Il1r2	A	G	1: 40,154,308 (GRCm39)	Y225C	probably damaging	Het
Kcnq3	T	G	15: 65,876,658 (GRCm39)	D495A	possibly damaging	Het
Lrrc49	T	C	9: 60,556,773 (GRCm39)	N321D	probably benign	Het
Lztr1	G	T	16: 17,341,247 (GRCm39)	R291L	probably damaging	Het
Micu1	C	T	10: 59,568,983 (GRCm39)		probably benign	Het
Msh5	C	T	17: 35,248,928 (GRCm39)	V702I	probably benign	Het
Myh1	T	C	11: 67,101,996 (GRCm39)	I792T	probably benign	Het
Nav1	T	A	1: 135,534,967 (GRCm39)		probably benign	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or11i1	C	T	3: 106,729,688 (GRCm39)	M62I	probably damaging	Het
Or5ac22	A	G	16: 59,135,027 (GRCm39)	S248P	probably damaging	Het
Or8u9	T	C	2: 86,001,354 (GRCm39)	D269G	probably benign	Het
Otof	G	C	5: 30,551,532 (GRCm39)	N340K	probably benign	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Plek2	T	A	12: 78,941,664 (GRCm39)	Y155F	probably damaging	Het
Ppa1	T	A	10: 61,487,388 (GRCm39)	Y38*	probably null	Het
Pramel22	T	A	4: 143,381,025 (GRCm39)	T333S	probably damaging	Het
Prmt9	T	A	8: 78,303,968 (GRCm39)	C684S	possibly damaging	Het
Rasl10a	A	G	11: 5,009,473 (GRCm39)	D87G	possibly damaging	Het
Rtn4rl1	C	A	11: 75,156,864 (GRCm39)	P432Q	probably benign	Het
Scd4	T	G	19: 44,329,823 (GRCm39)	Y265D	probably damaging	Het
Scn5a	C	T	9: 119,358,085 (GRCm39)	A719T	probably benign	Het
Sdk1	T	A	5: 142,171,040 (GRCm39)	F1968I	probably benign	Het
Sh3bp5	T	C	14: 31,157,880 (GRCm39)	E12G	probably benign	Het
Slc6a12	T	A	6: 121,337,485 (GRCm39)	F390I	probably benign	Het
Snapin	A	T	3: 90,397,539 (GRCm39)	D77E	possibly damaging	Het
Sox2	G	T	3: 34,704,820 (GRCm39)	E86*	probably null	Het
Sparcl1	A	G	5: 104,241,220 (GRCm39)	L68P	probably benign	Het
Sptb	T	A	12: 76,669,027 (GRCm39)	E562V	probably damaging	Het
Taar3	A	T	10: 23,826,483 (GRCm39)	H343L	probably benign	Het
Tanc1	T	A	2: 59,555,095 (GRCm39)	V51E	possibly damaging	Het
Tbc1d22a	T	C	15: 86,123,350 (GRCm39)	S128P	probably damaging	Het
Thada	A	G	17: 84,751,927 (GRCm39)	S350P	probably benign	Het
Tmem161b	T	C	13: 84,408,348 (GRCm39)	V93A	probably benign	Het
Tnn	T	C	1: 159,924,799 (GRCm39)	Y1185C	probably damaging	Het
Trim43a	T	C	9: 88,464,371 (GRCm39)	V94A	probably benign	Het
Ttll12	C	T	15: 83,465,976 (GRCm39)	E407K	probably benign	Het
Ttn	T	C	2: 76,555,856 (GRCm39)	E30383G	probably damaging	Het
Vmn1r29	T	A	6: 58,285,087 (GRCm39)	M269K	possibly damaging	Het
Vmn2r117	A	G	17: 23,697,363 (GRCm39)	S110P	probably benign	Het
Vmn2r6	C	A	3: 64,463,698 (GRCm39)	V290L	possibly damaging	Het
Vmn2r8	A	T	5: 108,950,019 (GRCm39)	L276Q	probably damaging	Het
Zan	C	A	5: 137,423,904 (GRCm39)	C2665F	unknown	Het
Zfp507	C	T	7: 35,493,150 (GRCm39)	R631Q	probably damaging	Het
Zfp983	A	G	17: 21,880,933 (GRCm39)	H287R	probably damaging	Het

Other mutations in F3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02506:F3	APN	3	121,525,323 (GRCm39)	missense	possibly damaging	0.83
G5030:F3	UTSW	3	121,518,648 (GRCm39)	missense	probably damaging	1.00
R0020:F3	UTSW	3	121,525,265 (GRCm39)	missense	probably damaging	1.00
R0020:F3	UTSW	3	121,525,265 (GRCm39)	missense	probably damaging	1.00
R0622:F3	UTSW	3	121,518,668 (GRCm39)	missense	probably damaging	1.00
R1367:F3	UTSW	3	121,523,023 (GRCm39)	missense	probably damaging	0.98
R1371:F3	UTSW	3	121,526,159 (GRCm39)	missense	probably damaging	1.00
R2100:F3	UTSW	3	121,526,082 (GRCm39)	missense	possibly damaging	0.61
R2366:F3	UTSW	3	121,526,194 (GRCm39)	splice site	probably null
R2471:F3	UTSW	3	121,518,689 (GRCm39)	missense	probably damaging	1.00
R4577:F3	UTSW	3	121,527,763 (GRCm39)	missense	probably benign	0.02
R5752:F3	UTSW	3	121,526,053 (GRCm39)	missense	probably damaging	1.00
R6440:F3	UTSW	3	121,518,686 (GRCm39)	missense	probably damaging	1.00
R6713:F3	UTSW	3	121,525,323 (GRCm39)	missense	possibly damaging	0.83
R6845:F3	UTSW	3	121,526,124 (GRCm39)	missense	probably benign	0.02
R6867:F3	UTSW	3	121,523,020 (GRCm39)	missense	possibly damaging	0.93
R7145:F3	UTSW	3	121,525,235 (GRCm39)	missense	probably damaging	1.00
R7511:F3	UTSW	3	121,525,206 (GRCm39)	missense	probably damaging	0.99
R8865:F3	UTSW	3	121,523,060 (GRCm39)	missense	probably damaging	1.00
R9455:F3	UTSW	3	121,527,866 (GRCm39)	missense	probably damaging	0.98
R9563:F3	UTSW	3	121,527,822 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- TAAAAGGTGCCCAGCAGAGC -3'
(R):5'- ACCAAGCTACTTACTGTCTCG -3'

Sequencing Primer
(F):5'- CAGCAGAGCTAACCTGGTTACTG -3'
(R):5'- CTGTCTCGGTAAGGTAAAAACTTTGG -3'

Posted On

2014-07-14