Incidental Mutation 'R0622:F3'
ID 58719
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 038811-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R0622 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 121517186-121528697 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 121518668 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 44 (D44V)
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: D44V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029771
Gene: ENSMUSG00000028128
AA Change: D44V

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: ENSMUST00000197391
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197731
Predicted Effect probably benign
Transcript: ENSMUST00000199997
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.9%
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1a T A 13: 30,565,664 (GRCm39) M243K probably benign Het
Ap1b1 A G 11: 4,987,707 (GRCm39) M744V probably damaging Het
Ccdc152 T C 15: 3,327,660 (GRCm39) N39S probably damaging Het
Cd163 G A 6: 124,294,311 (GRCm39) V490M probably damaging Het
Col6a5 G T 9: 105,803,051 (GRCm39) H1305N unknown Het
Cpb1 C A 3: 20,303,982 (GRCm39) D361Y probably damaging Het
Dchs1 T A 7: 105,412,656 (GRCm39) Y1248F probably damaging Het
Dhdds G C 4: 133,721,547 (GRCm39) F83L probably damaging Het
Dsg4 T A 18: 20,582,845 (GRCm39) V161E possibly damaging Het
Exosc4 A G 15: 76,211,736 (GRCm39) D15G probably damaging Het
Fat2 A T 11: 55,173,954 (GRCm39) F2253Y probably damaging Het
Fbn1 T C 2: 125,220,944 (GRCm39) D650G possibly damaging Het
Gramd4 T A 15: 85,975,590 (GRCm39) F36I probably damaging Het
Grm7 G A 6: 111,335,457 (GRCm39) A623T probably damaging Het
Gys1 A T 7: 45,089,419 (GRCm39) T193S probably damaging Het
Hectd4 A G 5: 121,486,688 (GRCm39) T3228A possibly damaging Het
Itpk1 G T 12: 102,540,239 (GRCm39) D281E probably damaging Het
Kcnh7 A C 2: 62,667,633 (GRCm39) probably null Het
Klhl29 A G 12: 5,131,224 (GRCm39) L852P probably damaging Het
Lrch1 T C 14: 75,033,491 (GRCm39) Y509C probably benign Het
Lrp1b A G 2: 41,618,563 (GRCm39) probably null Het
Mcpt4 C A 14: 56,298,119 (GRCm39) R144L probably benign Het
Mia2 C T 12: 59,178,364 (GRCm39) R12W probably damaging Het
Mrps5 A G 2: 127,436,451 (GRCm39) K116R probably benign Het
Myrf G A 19: 10,200,816 (GRCm39) P286S probably damaging Het
Nanp A G 2: 150,881,164 (GRCm39) M28T probably benign Het
Neb T C 2: 52,102,963 (GRCm39) I4472V probably benign Het
Nfix A C 8: 85,453,111 (GRCm39) N314K probably damaging Het
Nlrc3 C T 16: 3,771,832 (GRCm39) R849Q probably benign Het
Nup210l G A 3: 90,075,047 (GRCm39) V786M probably damaging Het
Or2t44 T C 11: 58,677,167 (GRCm39) S36P probably damaging Het
Or52ad1 A G 7: 102,996,064 (GRCm39) S24P probably damaging Het
Or6z5 T C 7: 6,477,598 (GRCm39) I163T possibly damaging Het
Or8c20 A G 9: 38,260,667 (GRCm39) N96S possibly damaging Het
Pdia4 A T 6: 47,783,452 (GRCm39) F197Y probably damaging Het
Phldb1 T C 9: 44,627,149 (GRCm39) D432G probably damaging Het
Pik3ca A G 3: 32,490,701 (GRCm39) E116G probably damaging Het
Polq T C 16: 36,881,355 (GRCm39) V1173A probably benign Het
Pou2f3 C T 9: 43,036,414 (GRCm39) R423H probably damaging Het
Pramel29 T C 4: 143,939,583 (GRCm39) probably benign Het
Prkag2 T C 5: 25,074,247 (GRCm39) N246S probably damaging Het
Proser1 A G 3: 53,385,281 (GRCm39) S388G probably benign Het
Ralgps1 G A 2: 33,064,459 (GRCm39) R238* probably null Het
Rfx2 T C 17: 57,084,071 (GRCm39) D657G probably damaging Het
Ryr3 A G 2: 112,492,900 (GRCm39) F3724S probably damaging Het
Sh2d5 T C 4: 137,986,539 (GRCm39) S421P probably damaging Het
Slc34a1 C A 13: 23,996,594 (GRCm39) T33K probably damaging Het
St8sia5 A G 18: 77,333,809 (GRCm39) T156A probably damaging Het
Stk32c T C 7: 138,768,026 (GRCm39) D85G probably benign Het
Tnks A G 8: 35,407,976 (GRCm39) S251P probably damaging Het
Tnxb T A 17: 34,937,703 (GRCm39) L3864Q probably damaging Het
Trim9 A G 12: 70,393,378 (GRCm39) Y189H probably damaging Het
Vmn1r77 T G 7: 11,775,315 (GRCm39) F30L probably benign Het
Wasf3 A G 5: 146,403,602 (GRCm39) probably null Het
Wdr90 C T 17: 26,074,632 (GRCm39) C603Y probably damaging Het
Zdhhc25 T C 15: 88,485,310 (GRCm39) L215P probably damaging Het
Zeb1 C T 18: 5,759,123 (GRCm39) Q140* probably null Het
Zfp677 C T 17: 21,617,962 (GRCm39) L340F probably benign 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
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
Predicted Primers PCR Primer
(F):5'- GTGACTGGCAACAAAACATGTGCTC -3'
(R):5'- GCTTGGTAAGCACTCAAGGGACAG -3'

Sequencing Primer
(F):5'- AAACATGTGCTCCCTTTGATGG -3'
(R):5'- TTGATGGAACATCACAGTAGCC -3'
Posted On 2013-07-11