Incidental Mutation 'R4878:Tfpi'
ID 375035
Institutional Source Beutler Lab
Gene Symbol Tfpi
Ensembl Gene ENSMUSG00000027082
Gene Name tissue factor pathway inhibitor
Synonyms A630013F22Rik
MMRRC Submission 042487-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4878 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 84263199-84307119 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 84282899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000122776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028487] [ENSMUST00000090732] [ENSMUST00000111711] [ENSMUST00000111711] [ENSMUST00000111714] [ENSMUST00000111717] [ENSMUST00000111717] [ENSMUST00000111718] [ENSMUST00000111718] [ENSMUST00000150261] [ENSMUST00000111722] [ENSMUST00000111722]
AlphaFold O54819
Predicted Effect probably null
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 null
Transcript: ENSMUST00000090732
SMART Domains Protein: ENSMUSP00000088235
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
Predicted Effect probably null
Transcript: ENSMUST00000111711
SMART Domains Protein: ENSMUSP00000107340
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
Predicted Effect probably null
Transcript: ENSMUST00000111711
SMART Domains Protein: ENSMUSP00000107340
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
Predicted Effect probably null
Transcript: ENSMUST00000111714
SMART Domains Protein: ENSMUSP00000107343
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
Predicted Effect probably null
Transcript: ENSMUST00000111717
SMART Domains Protein: ENSMUSP00000107346
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
Predicted Effect probably null
Transcript: ENSMUST00000111717
SMART Domains Protein: ENSMUSP00000107346
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
Predicted Effect probably null
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 null
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 noncoding transcript
Transcript: ENSMUST00000144775
Predicted Effect probably null
Transcript: ENSMUST00000150261
SMART Domains Protein: ENSMUSP00000122776
Gene: ENSMUSG00000027082

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
KU 41 94 4.4e-25 SMART
KU 112 165 7.97e-23 SMART
Predicted Effect probably null
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 probably null
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 96% (70/73)
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
Aadacl4 C A 4: 144,340,415 (GRCm39) H47N possibly damaging Het
Adgrg3 A T 8: 95,761,714 (GRCm39) N159I possibly damaging Het
Agrn A T 4: 156,255,302 (GRCm39) L1449Q probably damaging Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Atg2a A T 19: 6,300,274 (GRCm39) E694V probably damaging Het
Ccndbp1 T A 2: 120,845,172 (GRCm39) L363* probably null Het
Cdh16 A T 8: 105,344,696 (GRCm39) D478E probably damaging Het
Cep295 A T 9: 15,246,252 (GRCm39) W735R probably benign Het
Cnnm2 C T 19: 46,847,522 (GRCm39) P682S probably benign Het
Daam2 C A 17: 49,767,738 (GRCm39) R951L probably damaging Het
Dmxl1 T A 18: 49,984,543 (GRCm39) F180I probably damaging Het
Dnajc6 T C 4: 101,456,231 (GRCm39) probably benign Het
Efemp2 A T 19: 5,530,789 (GRCm39) probably benign Het
Emilin1 A G 5: 31,074,410 (GRCm39) D217G probably benign Het
Enpep A T 3: 129,070,420 (GRCm39) M829K probably benign Het
Epb41l4a A G 18: 33,931,625 (GRCm39) V623A probably damaging Het
Erlin2 T A 8: 27,517,194 (GRCm39) probably null Het
Fbln2 T C 6: 91,233,977 (GRCm39) probably null Het
Gga3 A T 11: 115,482,147 (GRCm39) I157N probably damaging Het
Gtpbp6 C T 5: 110,255,177 (GRCm39) probably benign Het
Hps4 T C 5: 112,523,234 (GRCm39) V584A probably benign Het
Ighv1-50 T C 12: 115,083,567 (GRCm39) Y51C probably benign Het
Kif13b T C 14: 65,043,603 (GRCm39) L1801P probably benign Het
Kif16b T C 2: 142,689,923 (GRCm39) I330V probably damaging Het
Klb A T 5: 65,505,833 (GRCm39) R27W probably damaging Het
Lrif1 A T 3: 106,642,956 (GRCm39) K169M probably damaging Het
Lrrc37 A G 11: 103,508,717 (GRCm39) probably benign Het
Met A G 6: 17,549,058 (GRCm39) D970G probably damaging Het
Mical3 A T 6: 120,946,348 (GRCm39) M1051K possibly damaging Het
Mios A G 6: 8,215,094 (GRCm39) N97D probably benign Het
Msh5 G A 17: 35,257,432 (GRCm39) R321C probably damaging Het
Mybpc1 T C 10: 88,387,292 (GRCm39) Q473R possibly damaging Het
Ncoa1 C T 12: 4,325,004 (GRCm39) G970D probably damaging Het
Neb T C 2: 52,109,406 (GRCm39) Y232C probably damaging Het
Nefh A G 11: 4,891,333 (GRCm39) S429P probably damaging Het
Notch3 C T 17: 32,366,059 (GRCm39) G1014D probably damaging Het
Nup107 A T 10: 117,587,323 (GRCm39) C859S probably benign Het
Or1d2 T C 11: 74,255,674 (GRCm39) Y60H probably damaging Het
Or2n1d T G 17: 38,646,518 (GRCm39) F157V probably benign Het
Or5m3b A G 2: 85,871,799 (GRCm39) I47V probably benign Het
Otud7b T A 3: 96,043,821 (GRCm39) probably benign Het
Pde1a A T 2: 79,708,483 (GRCm39) S312T probably benign Het
Piwil1 G T 5: 128,818,045 (GRCm39) R94L probably damaging Het
Pnma2 G A 14: 67,154,503 (GRCm39) W309* probably null Het
Ppef2 A C 5: 92,376,599 (GRCm39) probably null Het
Rabac1 T A 7: 24,669,392 (GRCm39) Q212L possibly damaging Het
Rad51 T C 2: 118,950,973 (GRCm39) probably benign Het
Rbm48 A T 5: 3,641,853 (GRCm39) probably benign Het
Rft1 C T 14: 30,399,761 (GRCm39) S315L probably benign Het
Rgs13 C T 1: 144,047,217 (GRCm39) M1I probably null Het
Rhbg A C 3: 88,154,760 (GRCm39) S215A probably benign Het
Rufy2 A T 10: 62,837,990 (GRCm39) N379I probably damaging Het
Slc17a1 T C 13: 24,064,637 (GRCm39) L367P probably damaging Het
Slc25a39 G A 11: 102,294,501 (GRCm39) R308C probably benign Het
Smo A G 6: 29,753,570 (GRCm39) T149A probably benign Het
Sqle A G 15: 59,187,934 (GRCm39) K81E probably benign Het
Tnk2 A G 16: 32,498,448 (GRCm39) D572G probably damaging Het
Ubr5 A T 15: 38,006,808 (GRCm39) M1149K probably benign Het
Utrn T A 10: 12,603,502 (GRCm39) Q626L probably damaging Het
Virma T A 4: 11,544,971 (GRCm39) H1643Q probably damaging Het
Wnt3 G T 11: 103,699,031 (GRCm39) G46C possibly damaging Het
Zkscan7 G T 9: 122,719,865 (GRCm39) G184* probably null 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
R5810:Tfpi UTSW 2 84,264,768 (GRCm39) intron probably benign
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'- AAAGCTCATGGCCCATGGAG -3'
(R):5'- TGGCATAGCATTTATAAGACCTTGC -3'

Sequencing Primer
(F):5'- TGGAGCCTTCCCAATGAACAGTG -3'
(R):5'- TGACTGGCTAAAATAACCTCTCTC -3'
Posted On 2016-03-17