Incidental Mutation 'R5752:F3'
ID 444831
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 043357-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R5752 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 121517186-121528697 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 121526053 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 205 (N205K)
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: N205K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029771
Gene: ENSMUSG00000028128
AA Change: N205K

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 probably benign
Transcript: ENSMUST00000199997
Meta Mutation Damage Score 0.2726 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 98% (58/59)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330017A19Rik C A 17: 47,200,966 (GRCm39) probably benign Het
Aldh1l2 C A 10: 83,356,244 (GRCm39) G49C probably damaging Het
Arhgap26 G A 18: 39,419,725 (GRCm39) E11K probably damaging Het
Asns C T 6: 7,689,365 (GRCm39) G46S probably damaging Het
Atrn G T 2: 130,748,464 (GRCm39) probably benign Het
Cep126 A C 9: 8,120,746 (GRCm39) Y92* probably null Het
Cfap69 T C 5: 5,639,204 (GRCm39) T567A probably damaging Het
Clgn T A 8: 84,123,670 (GRCm39) Y61N probably damaging Het
Col28a1 T G 6: 8,015,025 (GRCm39) K793N possibly damaging Het
Cxcl9 C A 5: 92,471,715 (GRCm39) M108I probably benign Het
Cyp4f37 A T 17: 32,850,306 (GRCm39) I318F probably damaging Het
Daam1 T C 12: 71,993,320 (GRCm39) M363T unknown Het
Dnajc13 A C 9: 104,069,973 (GRCm39) probably null Het
Entpd2 G A 2: 25,289,781 (GRCm39) probably benign Het
Fat2 A T 11: 55,180,063 (GRCm39) F1426Y possibly damaging Het
Galnt6 A T 15: 100,602,007 (GRCm39) F267I probably damaging Het
Gm1322 G A 2: 67,014,979 (GRCm39) noncoding transcript Het
Hdgfl3 A C 7: 81,549,451 (GRCm39) S143A possibly damaging Het
Ints7 T A 1: 191,308,005 (GRCm39) D12E probably benign Het
Kank3 A G 17: 34,037,037 (GRCm39) T114A probably benign Het
Lrp1b A G 2: 41,185,624 (GRCm39) Y1364H probably damaging Het
Mef2b A G 8: 70,618,267 (GRCm39) T116A possibly damaging Het
Megf8 C T 7: 25,054,539 (GRCm39) T1885I probably damaging Het
Mrps11 A G 7: 78,433,343 (GRCm39) K30E probably benign Het
Naca T A 10: 127,877,797 (GRCm39) probably benign Het
Ncoa4-ps A G 12: 119,226,349 (GRCm39) noncoding transcript Het
Nhsl3 GGTG GGTGTG 4: 129,117,773 (GRCm39) probably null Het
Or2at1 T C 7: 99,417,155 (GRCm39) I262T probably benign Het
Paip2b C T 6: 83,808,252 (GRCm39) probably null Het
Plcb2 G T 2: 118,541,532 (GRCm39) probably benign Het
Plcd4 A G 1: 74,587,131 (GRCm39) probably null Het
Pnpla8 A G 12: 44,329,670 (GRCm39) N74S probably benign Het
Pot1b A T 17: 55,994,834 (GRCm39) I276N probably damaging Het
Qprt C T 7: 126,708,416 (GRCm39) G5D probably benign Het
Rab11fip1 T C 8: 27,646,614 (GRCm39) N154S probably damaging Het
Rin3 G A 12: 102,279,378 (GRCm39) probably benign Het
Sdf4 C T 4: 156,080,761 (GRCm39) P37S probably damaging Het
Selp A T 1: 163,964,811 (GRCm39) D491V probably damaging Het
Sh3gl3 A G 7: 81,824,696 (GRCm39) probably benign Het
Sp110 G C 1: 85,504,923 (GRCm39) probably benign Het
Spata31d1e T C 13: 59,891,016 (GRCm39) Y268C probably damaging Het
Tas2r134 A G 2: 51,517,880 (GRCm39) R120G probably damaging Het
Tgfbr3 T C 5: 107,287,673 (GRCm39) R509G probably benign Het
Tle3 T A 9: 61,314,753 (GRCm39) Y231N probably damaging Het
Top6bl C A 19: 4,676,048 (GRCm39) A695S probably benign Het
Ttc41 C T 10: 86,594,210 (GRCm39) T881I probably benign Het
Ttll8 T C 15: 88,816,931 (GRCm39) Y271C probably benign Het
Ttn A T 2: 76,778,328 (GRCm39) I1307K possibly damaging Het
Ube2k A G 5: 65,723,411 (GRCm39) D48G probably damaging Het
Vcan T C 13: 89,828,069 (GRCm39) T3126A probably damaging Het
Vps13d T C 4: 144,875,540 (GRCm39) T1656A probably benign Het
Zzz3 C A 3: 152,157,759 (GRCm39) S777R possibly 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
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'- ACTGGGCTAGGTGTACTGTC -3'
(R):5'- GACACCCTAAGCTCATTTCTGAATG -3'

Sequencing Primer
(F):5'- CTTTTTAGCAGTCATCAGGGGTTACC -3'
(R):5'- CTAAGAGATACATGTTGGCTTTGATG -3'
Posted On 2016-11-21