Incidental Mutation 'R5810:Tfpi'
ID 447443
Institutional Source Beutler Lab
Gene Symbol Tfpi
Ensembl Gene ENSMUSG00000027082
Gene Name tissue factor pathway inhibitor
Synonyms A630013F22Rik
MMRRC Submission 043395-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5810 (G1)
Quality Score 182
Status Validated
Chromosome 2
Chromosomal Location 84263199-84307119 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA to AATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGA at 84264768 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107351 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028487] [ENSMUST00000111718] [ENSMUST00000111722]
AlphaFold O54819
Predicted Effect probably benign
Transcript: ENSMUST00000028487
SMART Domains Protein: ENSMUSP00000028487
Gene: ENSMUSG00000027082

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
KU 48 101 4.4e-25 SMART
KU 119 172 7.97e-23 SMART
KU 223 276 2.25e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111718
SMART Domains Protein: ENSMUSP00000107347
Gene: ENSMUSG00000027082

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
KU 48 101 4.4e-25 SMART
KU 119 172 7.97e-23 SMART
KU 223 276 2.25e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111722
SMART Domains Protein: ENSMUSP00000107351
Gene: ENSMUSG00000027082

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
KU 48 101 4.4e-25 SMART
KU 119 172 7.97e-23 SMART
KU 217 270 2.25e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125677
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency 100% (66/66)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Kunitz-type serine protease inhibitor that regulates the tissue factor (TF)-dependent pathway of blood coagulation. The coagulation process initiates with the formation of a factor VIIa-TF complex, which proteolytically activates additional proteases (factors IX and X) and ultimately leads to the formation of a fibrin clot. The product of this gene inhibits the activated factor X and VIIa-TF proteases in an autoregulatory loop. Inhibition of the encoded protein restores hemostasis in animal models of hemophilia. This gene encodes multiple protein isoforms that differ in their inhibitory activity, specificity and cellular localization. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous mutant embryos die showing hemorrhages of the yolk sac, central nervous system, and tail. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 A G 4: 53,079,631 (GRCm39) F866L probably benign Het
Abca16 T A 7: 120,035,155 (GRCm39) C314S probably damaging Het
Actl11 C T 9: 107,806,420 (GRCm39) P248S probably benign Het
Actr3 A G 1: 125,344,116 (GRCm39) probably benign Het
Baz1a G A 12: 54,974,500 (GRCm39) probably benign Het
Birc6 A C 17: 74,977,369 (GRCm39) N4388T probably damaging Het
Bpifa5 G A 2: 154,005,638 (GRCm39) probably null Het
Car13 A C 3: 14,706,828 (GRCm39) probably null Het
Ceacam18 A T 7: 43,286,382 (GRCm39) H85L probably benign Het
Cnnm3 A G 1: 36,564,280 (GRCm39) E704G probably benign Het
Cyp4f14 T A 17: 33,125,072 (GRCm39) I450F possibly damaging Het
Ddhd1 G T 14: 45,840,164 (GRCm39) T710N probably damaging Het
Ddx60 C T 8: 62,465,422 (GRCm39) Q1360* probably null Het
Dlg5 A G 14: 24,196,322 (GRCm39) V1625A probably damaging Het
Dst G A 1: 34,222,121 (GRCm39) probably benign Het
Dyrk2 G T 10: 118,696,245 (GRCm39) H338N probably benign Het
Epb41l1 A T 2: 156,341,575 (GRCm39) I187F probably damaging Het
Esd A G 14: 74,983,051 (GRCm39) D221G probably damaging Het
Fam53b T A 7: 132,361,893 (GRCm39) N45I probably damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Fryl A T 5: 73,248,098 (GRCm39) D1006E probably benign Het
Gli3 T C 13: 15,818,894 (GRCm39) V232A probably damaging Het
Gm28308 C A 6: 52,190,196 (GRCm39) probably benign Het
Gpatch1 G A 7: 34,994,796 (GRCm39) A490V probably benign Het
Hoxa7 T C 6: 52,193,004 (GRCm39) D128G probably benign Het
Igdcc4 A G 9: 65,035,977 (GRCm39) T751A probably damaging Het
Igsf10 G A 3: 59,226,492 (GRCm39) L2394F probably damaging Het
Il15ra A G 2: 11,738,063 (GRCm39) probably null Het
Il17re C T 6: 113,446,557 (GRCm39) A436V probably damaging Het
Krtap19-2 T C 16: 88,671,124 (GRCm39) probably benign Het
Larp7-ps A T 4: 92,079,820 (GRCm39) probably null Het
Lgals12 T C 19: 7,584,085 (GRCm39) D4G probably benign Het
Liph A T 16: 21,786,860 (GRCm39) L252Q probably damaging Het
Mtg1 T A 7: 139,725,898 (GRCm39) probably null Het
Myo18b A G 5: 112,982,316 (GRCm39) L1139P probably damaging Het
Ninl T C 2: 150,792,088 (GRCm39) R812G probably benign Het
Npm3 A G 19: 45,736,644 (GRCm39) I165T possibly damaging Het
Or1e22 G T 11: 73,376,921 (GRCm39) S243* probably null Het
Osbpl9 A G 4: 108,943,571 (GRCm39) V231A probably benign Het
Pgam2 T C 11: 5,753,417 (GRCm39) H91R possibly damaging Het
Pkhd1 A G 1: 20,270,897 (GRCm39) W3219R probably benign Het
Procr A G 2: 155,593,327 (GRCm39) K4E possibly damaging Het
Slc22a16 C T 10: 40,471,314 (GRCm39) T495I possibly damaging Het
Slc22a6 A G 19: 8,601,222 (GRCm39) K425E probably damaging Het
Slco6c1 A T 1: 97,003,598 (GRCm39) C500S probably damaging Het
Snrpd2 G T 7: 18,886,447 (GRCm39) V77F probably benign Het
Sp100 G A 1: 85,593,006 (GRCm39) G145D probably benign Het
Spg7 G A 8: 123,821,308 (GRCm39) E678K possibly damaging Het
Ssh1 T C 5: 114,084,627 (GRCm39) K538E probably benign Het
Sspo C T 6: 48,460,832 (GRCm39) R3356W probably benign Het
Stx1a G T 5: 135,077,932 (GRCm39) V255F probably damaging Het
Tbc1d13 C A 2: 30,032,380 (GRCm39) Q164K probably benign Het
Tpm2 T C 4: 43,518,968 (GRCm39) probably benign Het
Triobp T C 15: 78,852,467 (GRCm39) C874R probably benign Het
Tymp T A 15: 89,258,534 (GRCm39) H269L probably damaging Het
Vmn1r194 T A 13: 22,428,597 (GRCm39) Y71* probably null Het
Vmn2r102 T C 17: 19,897,804 (GRCm39) V273A probably benign Het
Vmn2r2 A T 3: 64,024,815 (GRCm39) C589S probably damaging Het
Vps13a T C 19: 16,643,688 (GRCm39) T2063A probably benign Het
Ywhaz T C 15: 36,775,510 (GRCm39) I217M probably damaging Het
Zfp322a A C 13: 23,541,579 (GRCm39) Y54* probably null Het
Zswim9 A T 7: 12,994,662 (GRCm39) V498D probably damaging Het
Other mutations in Tfpi
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01484:Tfpi APN 2 84,275,169 (GRCm39) nonsense probably null
IGL01860:Tfpi APN 2 84,274,378 (GRCm39) missense probably benign 0.00
IGL02434:Tfpi APN 2 84,282,892 (GRCm39) splice site probably benign
IGL03087:Tfpi APN 2 84,274,389 (GRCm39) missense possibly damaging 0.61
I1329:Tfpi UTSW 2 84,274,460 (GRCm39) missense possibly damaging 0.77
R0883:Tfpi UTSW 2 84,273,664 (GRCm39) splice site probably benign
R1069:Tfpi UTSW 2 84,284,136 (GRCm39) splice site probably benign
R1577:Tfpi UTSW 2 84,263,447 (GRCm39) missense probably damaging 0.97
R1854:Tfpi UTSW 2 84,288,451 (GRCm39) missense probably benign 0.00
R1991:Tfpi UTSW 2 84,288,360 (GRCm39) splice site probably benign
R2910:Tfpi UTSW 2 84,274,437 (GRCm39) missense possibly damaging 0.93
R3085:Tfpi UTSW 2 84,273,227 (GRCm39) utr 3 prime probably benign
R4403:Tfpi UTSW 2 84,275,206 (GRCm39) missense probably damaging 0.98
R4473:Tfpi UTSW 2 84,288,426 (GRCm39) missense probably null 1.00
R4878:Tfpi UTSW 2 84,282,899 (GRCm39) critical splice donor site probably null
R5949:Tfpi UTSW 2 84,275,092 (GRCm39) missense probably benign 0.37
R6899:Tfpi UTSW 2 84,275,153 (GRCm39) missense probably damaging 1.00
R8024:Tfpi UTSW 2 84,284,266 (GRCm39) missense possibly damaging 0.86
R9068:Tfpi UTSW 2 84,273,235 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCGTACCTGTTTTACATGATCTCAGAC -3'
(R):5'- TGGGAATTGAAACCCTTGGGC -3'

Sequencing Primer
(F):5'- GATCTCAGACATCTCCTTCTGGTAG -3'
(R):5'- AAACCCTTGGGCTTTGCAG -3'
Posted On 2016-12-15