Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02506:F3'

296350

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ensembl Gene

ENSMUSG00000028128

Gene Name

coagulation factor III

Synonyms

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL02506

Quality Score

Status

Chromosome

Chromosomal Location

121517186-121528697 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 121525323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 53 (T53I)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029771
AA Change: T188I

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029771
Gene: ENSMUSG00000028128
AA Change: T188I

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

possibly damaging
Transcript: ENSMUST00000199997
AA Change: T53I

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	A	G	17: 84,999,916 (GRCm39)	E189G	possibly damaging	Het
Acad11	T	C	9: 103,968,931 (GRCm39)		probably null	Het
Adcy7	G	T	8: 89,044,571 (GRCm39)	R488L	probably damaging	Het
Akt1	C	T	12: 112,625,714 (GRCm39)		probably benign	Het
Ano9	C	T	7: 140,682,167 (GRCm39)		probably benign	Het
Arhgap15	A	G	2: 43,953,820 (GRCm39)	D182G	possibly damaging	Het
Asxl3	T	A	18: 22,585,456 (GRCm39)	V127D	probably benign	Het
Cacna1g	A	G	11: 94,319,955 (GRCm39)	M1407T	probably damaging	Het
Card9	A	C	2: 26,244,427 (GRCm39)		probably benign	Het
Cdh5	A	G	8: 104,864,454 (GRCm39)	N472D	probably damaging	Het
Ceacam2	T	A	7: 25,227,379 (GRCm39)	T343S	probably benign	Het
Cic	T	A	7: 24,990,282 (GRCm39)	C1928S	probably benign	Het
Clk3	C	T	9: 57,661,927 (GRCm39)	W31*	probably null	Het
Cntn4	A	G	6: 106,595,349 (GRCm39)	T489A	probably benign	Het
Crispld1	G	A	1: 17,826,529 (GRCm39)	R431H	probably damaging	Het
Crmp1	T	A	5: 37,436,199 (GRCm39)		probably benign	Het
Cyld	A	G	8: 89,456,218 (GRCm39)	T423A	possibly damaging	Het
Cyp3a44	A	T	5: 145,736,198 (GRCm39)	I84N	probably damaging	Het
D2hgdh	A	G	1: 93,757,507 (GRCm39)	N141D	probably damaging	Het
Dip2b	T	A	15: 100,055,162 (GRCm39)	L341Q	probably damaging	Het
Fam227b	T	A	2: 125,845,831 (GRCm39)	Y386F	probably benign	Het
Fmn1	A	T	2: 113,355,640 (GRCm39)	T694S	unknown	Het
Gcnt2	T	A	13: 41,040,856 (GRCm39)	V5E	probably benign	Het
Herpud1	G	T	8: 95,121,270 (GRCm39)	E355*	probably null	Het
Igf1r	T	C	7: 67,843,144 (GRCm39)	S752P	probably benign	Het
Iqsec1	T	C	6: 90,649,057 (GRCm39)	I687V	possibly damaging	Het
Kdm5a	T	C	6: 120,409,110 (GRCm39)	S1598P	probably damaging	Het
Klk1b9	A	G	7: 43,445,063 (GRCm39)	E185G	probably benign	Het
Myo16	G	T	8: 10,440,217 (GRCm39)	R423L	probably damaging	Het
Myo7b	T	C	18: 32,100,207 (GRCm39)	E1609G	probably damaging	Het
Nom1	T	A	5: 29,644,814 (GRCm39)		probably benign	Het
Nomo1	A	G	7: 45,727,480 (GRCm39)	I1040V	possibly damaging	Het
Or8b39	G	A	9: 37,996,741 (GRCm39)	G203D	probably damaging	Het
Paqr9	T	C	9: 95,442,748 (GRCm39)	V246A	probably benign	Het
Pfkfb4	A	T	9: 108,859,404 (GRCm39)	D437V	probably benign	Het
Phldb1	G	T	9: 44,622,223 (GRCm39)	D797E	probably benign	Het
Pkd1l3	A	G	8: 110,374,132 (GRCm39)	E1399G	probably damaging	Het
Plekhs1	G	A	19: 56,460,198 (GRCm39)	C97Y	probably damaging	Het
Plscr4	A	T	9: 92,372,044 (GRCm39)	I272L	possibly damaging	Het
Prlhr	A	C	19: 60,456,366 (GRCm39)	Y67D	probably damaging	Het
Rab3gap2	A	G	1: 184,984,221 (GRCm39)		probably benign	Het
Rad23b	T	C	4: 55,382,511 (GRCm39)	V238A	probably benign	Het
Sel1l2	T	C	2: 140,117,380 (GRCm39)	T164A	possibly damaging	Het
Serpinh1	T	A	7: 98,996,199 (GRCm39)	K295M	probably damaging	Het
Slc45a4	T	C	15: 73,453,687 (GRCm39)	E770G	probably benign	Het
Spag4	T	C	2: 155,911,142 (GRCm39)	L390P	probably damaging	Het
Stip1	A	G	19: 7,012,857 (GRCm39)		probably benign	Het
Tacr1	A	G	6: 82,380,739 (GRCm39)	N50S	probably damaging	Het
Tg	T	C	15: 66,613,443 (GRCm39)	V433A	possibly damaging	Het
Ubap1l	T	A	9: 65,276,493 (GRCm39)		probably benign	Het
Usp40	A	T	1: 87,909,738 (GRCm39)	I572K	probably damaging	Het
Vps13b	G	T	15: 35,917,308 (GRCm39)	E3717D	probably damaging	Het
Wdr81	T	C	11: 75,335,232 (GRCm39)	N1778S	probably benign	Het
Ylpm1	T	A	12: 85,095,965 (GRCm39)	F1162Y	probably damaging	Het
Zbtb10	T	A	3: 9,330,297 (GRCm39)	F552I	probably damaging	Het
Zfp507	T	C	7: 35,475,891 (GRCm39)	I811V	probably damaging	Het
Zfp663	A	T	2: 165,195,871 (GRCm39)	V116D	probably benign	Het

Other mutations in F3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R1925:F3	UTSW	3	121,523,032 (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

Posted On

2015-04-16