Incidental Mutation 'R6713:F3'
ID 529201
Institutional Source Beutler Lab
Gene Symbol F3
Ensembl Gene ENSMUSG00000028128
Gene Name coagulation factor III
Synonyms Cf-3, tissue factor, TF, Cf3, CD142
MMRRC Submission 044831-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R6713 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
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

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.9%
Validation Efficiency 100% (39/39)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol10a C T 15: 77,373,051 (GRCm39) T229M possibly damaging Het
Cdh16 G A 8: 105,346,617 (GRCm39) Q226* probably null Het
Cemip A T 7: 83,592,845 (GRCm39) N1227K probably benign Het
Dusp13b A G 14: 21,798,541 (GRCm39) V41A probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fyb2 T A 4: 104,847,432 (GRCm39) M484K probably benign Het
Glb1l A T 1: 75,179,061 (GRCm39) H253Q probably benign Het
Grm8 T C 6: 27,363,190 (GRCm39) E775G probably damaging Het
Hipk3 C T 2: 104,276,916 (GRCm39) V388M probably damaging Het
Ighe T C 12: 113,232,908 (GRCm39) probably benign Het
Kif14 A G 1: 136,453,544 (GRCm39) T1491A probably benign Het
Klre1 A G 6: 129,559,229 (GRCm39) probably null Het
Kpna6 A T 4: 129,547,777 (GRCm39) L257M probably damaging Het
Ldhc G A 7: 46,515,955 (GRCm39) probably null Het
Lekr1 C A 3: 65,591,380 (GRCm39) A39D probably benign Het
Lins1 A G 7: 66,358,230 (GRCm39) T122A probably benign Het
Lrrc40 G A 3: 157,769,350 (GRCm39) R516Q probably benign Het
Meis3 G T 7: 15,916,255 (GRCm39) G72* probably null Het
Mpo A G 11: 87,686,194 (GRCm39) T115A probably damaging Het
Mrgprb5 A G 7: 47,818,537 (GRCm39) V66A probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nags C A 11: 102,037,347 (GRCm39) A146E probably benign Het
Nkain4 C T 2: 180,585,970 (GRCm39) G31D probably damaging Het
Or2y1 T G 11: 49,385,784 (GRCm39) C141W probably damaging Het
Or4k1 T A 14: 50,377,181 (GRCm39) H305L probably benign Het
Or5ak24 A C 2: 85,260,883 (GRCm39) C97G probably damaging Het
Or8a1 A G 9: 37,641,560 (GRCm39) C240R probably damaging Het
Otud6b C T 4: 14,822,739 (GRCm39) V122I probably benign Het
Ovca2 C T 11: 75,069,569 (GRCm39) S18N possibly damaging Het
Pax2 A G 19: 44,823,916 (GRCm39) S370G unknown Het
Pias2 G A 18: 77,153,416 (GRCm39) probably null Het
Slc2a10 T C 2: 165,357,128 (GRCm39) F263L probably damaging Het
Slc6a17 T G 3: 107,378,703 (GRCm39) M660L probably benign Het
Smarcc2 A G 10: 128,323,638 (GRCm39) probably null Het
Srcap A G 7: 127,134,089 (GRCm39) T937A probably benign Het
Ssh2 C A 11: 77,340,259 (GRCm39) D470E possibly damaging Het
St8sia1 A T 6: 142,775,008 (GRCm39) probably null Het
Supt20 T A 3: 54,606,022 (GRCm39) I36K possibly damaging Het
Tor1aip2 T A 1: 155,941,155 (GRCm39) L487Q probably damaging Het
Zfp619 G T 7: 39,187,322 (GRCm39) K1117N probably damaging Het
Other mutations in F3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GAGGAGCTGTCAATTACGATAAC -3'
(R):5'- AAGGTTCAGCAGTGACAGGC -3'

Sequencing Primer
(F):5'- GAGCTGTCAATTACGATAACTAAGTG -3'
(R):5'- TTCAGCAGTGACAGGCAGAAG -3'
Posted On 2018-07-24