Incidental Mutation 'IGL02506:F3'
ID296350
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol F3
Ensembl Gene ENSMUSG00000028128
Gene Namecoagulation factor III
SynonymsTF, Cf3, tissue factor, Cf-3, CD142
Accession Numbers

Genbank: NM_010171

Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #IGL02506
Quality Score
Status
Chromosome3
Chromosomal Location121723537-121735048 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 121731674 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 53 (T53I)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029771]
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 A G 17: 84,692,488 E189G possibly damaging Het
Acad11 T C 9: 104,091,732 probably null Het
Adcy7 G T 8: 88,317,943 R488L probably damaging Het
Akt1 C T 12: 112,659,280 probably benign Het
Ano9 C T 7: 141,102,254 probably benign Het
Arhgap15 A G 2: 44,063,808 D182G possibly damaging Het
Asxl3 T A 18: 22,452,399 V127D probably benign Het
Cacna1g A G 11: 94,429,129 M1407T probably damaging Het
Card9 A C 2: 26,354,415 probably benign Het
Cdh5 A G 8: 104,137,822 N472D probably damaging Het
Ceacam2 T A 7: 25,527,954 T343S probably benign Het
Cic T A 7: 25,290,857 C1928S probably benign Het
Clk3 C T 9: 57,754,644 W31* probably null Het
Cntn4 A G 6: 106,618,388 T489A probably benign Het
Crispld1 G A 1: 17,756,305 R431H probably damaging Het
Crmp1 T A 5: 37,278,855 probably benign Het
Cyld A G 8: 88,729,590 T423A possibly damaging Het
Cyp3a44 A T 5: 145,799,388 I84N probably damaging Het
D2hgdh A G 1: 93,829,785 N141D probably damaging Het
Dip2b T A 15: 100,157,281 L341Q probably damaging Het
Fam227b T A 2: 126,003,911 Y386F probably benign Het
Fmn1 A T 2: 113,525,295 T694S unknown Het
Gcnt2 T A 13: 40,887,380 V5E probably benign Het
Herpud1 G T 8: 94,394,642 E355* probably null Het
Igf1r T C 7: 68,193,396 S752P probably benign Het
Iqsec1 T C 6: 90,672,075 I687V possibly damaging Het
Kdm5a T C 6: 120,432,149 S1598P probably damaging Het
Klk9 A G 7: 43,795,639 E185G probably benign Het
Myo16 G T 8: 10,390,217 R423L probably damaging Het
Myo7b T C 18: 31,967,154 E1609G probably damaging Het
Nom1 T A 5: 29,439,816 probably benign Het
Nomo1 A G 7: 46,078,056 I1040V possibly damaging Het
Olfr887 G A 9: 38,085,445 G203D probably damaging Het
Paqr9 T C 9: 95,560,695 V246A probably benign Het
Pfkfb4 A T 9: 109,030,336 D437V probably benign Het
Phldb1 G T 9: 44,710,926 D797E probably benign Het
Pkd1l3 A G 8: 109,647,500 E1399G probably damaging Het
Plekhs1 G A 19: 56,471,766 C97Y probably damaging Het
Plscr4 A T 9: 92,489,991 I272L possibly damaging Het
Prlhr A C 19: 60,467,928 Y67D probably damaging Het
Rab3gap2 A G 1: 185,252,024 probably benign Het
Rad23b T C 4: 55,382,511 V238A probably benign Het
Sel1l2 T C 2: 140,275,460 T164A possibly damaging Het
Serpinh1 T A 7: 99,346,992 K295M probably damaging Het
Slc45a4 T C 15: 73,581,838 E770G probably benign Het
Spag4 T C 2: 156,069,222 L390P probably damaging Het
Stip1 A G 19: 7,035,489 probably benign Het
Tacr1 A G 6: 82,403,758 N50S probably damaging Het
Tg T C 15: 66,741,594 V433A possibly damaging Het
Ubap1l T A 9: 65,369,211 probably benign Het
Usp40 A T 1: 87,982,016 I572K probably damaging Het
Vps13b G T 15: 35,917,162 E3717D probably damaging Het
Wdr81 T C 11: 75,444,406 N1778S probably benign Het
Ylpm1 T A 12: 85,049,191 F1162Y probably damaging Het
Zbtb10 T A 3: 9,265,237 F552I probably damaging Het
Zfp507 T C 7: 35,776,466 I811V probably damaging Het
Zfp663 A T 2: 165,353,951 V116D probably benign Het
Other mutations in F3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R7145:F3 UTSW 3 121731586 missense probably damaging 1.00
R7511:F3 UTSW 3 121731557 missense probably damaging 0.99
Posted On2015-04-16