Incidental Mutation 'R1577:Tfpi'
ID 171200
Institutional Source Beutler Lab
Gene Symbol Tfpi
Ensembl Gene ENSMUSG00000027082
Gene Name tissue factor pathway inhibitor
Synonyms A630013F22Rik
MMRRC Submission 039615-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1577 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 84263199-84307119 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84263447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 305 (I305T)
Ref Sequence ENSEMBL: ENSMUSP00000107347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028487] [ENSMUST00000111718] [ENSMUST00000111722]
AlphaFold O54819
Predicted Effect probably damaging
Transcript: ENSMUST00000028487
AA Change: I305T

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028487
Gene: ENSMUSG00000027082
AA Change: I305T

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 damaging
Transcript: ENSMUST00000111718
AA Change: I305T

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107347
Gene: ENSMUSG00000027082
AA Change: I305T

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 possibly damaging
Transcript: ENSMUST00000111722
AA Change: I299T

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107351
Gene: ENSMUSG00000027082
AA Change: I299T

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: 98.9%
  • 3x: 97.8%
  • 10x: 94.6%
  • 20x: 87.3%
Validation Efficiency
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T C 1: 25,133,264 (GRCm39) N404S possibly damaging Het
Cep85 T C 4: 133,879,599 (GRCm39) E383G probably damaging Het
Chst4 A T 8: 110,756,476 (GRCm39) H379Q probably benign Het
Clca3b A T 3: 144,529,280 (GRCm39) I798N probably damaging Het
Cldnd1 T G 16: 58,553,016 (GRCm39) L159R possibly damaging Het
Cntnap3 T C 13: 64,906,104 (GRCm39) E834G probably damaging Het
Col2a1 C T 15: 97,877,083 (GRCm39) R1065Q probably damaging Het
Dchs1 T C 7: 105,415,162 (GRCm39) D674G probably damaging Het
Dntt A G 19: 41,044,224 (GRCm39) Y463C probably damaging Het
Egfr A G 11: 16,819,241 (GRCm39) E257G probably benign Het
Eif4b C T 15: 101,998,336 (GRCm39) R339* probably null Het
Fat1 C T 8: 45,476,420 (GRCm39) T1822M probably benign Het
Fgd3 T C 13: 49,435,413 (GRCm39) N282D probably damaging Het
Fmo4 T C 1: 162,631,269 (GRCm39) M233V possibly damaging Het
Gabbr2 T A 4: 46,684,319 (GRCm39) M652L probably benign Het
Gal3st2c G A 1: 93,934,650 (GRCm39) V13M probably damaging Het
Gapvd1 C T 2: 34,599,240 (GRCm39) G686D probably damaging Het
Gdap1l1 T G 2: 163,280,524 (GRCm39) L20R probably damaging Het
Gm5800 A T 14: 51,952,016 (GRCm39) M82K probably benign Het
Grm6 T A 11: 50,753,972 (GRCm39) C759S probably damaging Het
Hs3st1 A T 5: 39,772,393 (GRCm39) D83E probably benign Het
Il12rb1 A G 8: 71,263,250 (GRCm39) D39G probably damaging Het
Ldhb C A 6: 142,438,324 (GRCm39) K244N possibly damaging Het
Lypd6 C T 2: 50,080,710 (GRCm39) R133* probably null Het
Med13l G A 5: 118,859,457 (GRCm39) G215S probably damaging Het
Ncoa1 T C 12: 4,345,196 (GRCm39) D606G probably damaging Het
Noc2l C T 4: 156,325,079 (GRCm39) T151M probably damaging Het
Or10q3 T C 19: 11,847,741 (GRCm39) T280A probably damaging Het
Or2ag2 T C 7: 106,485,217 (GRCm39) K269R probably benign Het
Or2at4 T C 7: 99,384,563 (GRCm39) L71P probably damaging Het
Or2t26 T A 11: 49,040,016 (GRCm39) C311S probably benign Het
Or5aq1b T C 2: 86,901,741 (GRCm39) T246A probably benign Het
Ppm1l G A 3: 69,460,403 (GRCm39) G327R probably damaging Het
Rapgef5 C T 12: 117,558,911 (GRCm39) A282V probably benign Het
Rnf139 T C 15: 58,771,367 (GRCm39) V464A probably damaging Het
Rprd2 C T 3: 95,672,047 (GRCm39) E1119K probably damaging Het
Sipa1l2 G A 8: 126,219,001 (GRCm39) T112I probably benign Het
Skint6 T C 4: 113,005,720 (GRCm39) T363A possibly damaging Het
Slc22a16 G T 10: 40,479,811 (GRCm39) E607* probably null Het
Slc24a2 T C 4: 86,909,648 (GRCm39) Y690C probably damaging Het
Slc25a23 T C 17: 57,354,306 (GRCm39) S115G probably benign Het
Slc4a3 T C 1: 75,527,535 (GRCm39) L168P probably damaging Het
Spats2 T A 15: 99,076,333 (GRCm39) I137N possibly damaging Het
Stard4 A T 18: 33,338,151 (GRCm39) V133D probably damaging Het
Syn3 A G 10: 86,284,728 (GRCm39) probably null Het
Tmtc1 T A 6: 148,314,318 (GRCm39) probably null Het
Tpcn1 A C 5: 120,682,485 (GRCm39) W508G probably damaging Het
Ubr5 A T 15: 38,030,974 (GRCm39) N406K possibly damaging Het
Xrcc1 T A 7: 24,265,052 (GRCm39) L118* probably null Het
Zbtb5 T C 4: 44,995,129 (GRCm39) Y85C probably damaging Het
Zfand4 C A 6: 116,306,373 (GRCm39) Y735* probably null Het
Zfp180 G T 7: 23,805,333 (GRCm39) C584F 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
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
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'- ACAGTCAACATGATTGCTCAGGATGAAA -3'
(R):5'- ACACAAAACCTTAATGTCCTTCTGCTCC -3'

Sequencing Primer
(F):5'- GCTCAGGATGAAAGATTTTATTTCTC -3'
(R):5'- agaagaaaggagggaggagg -3'
Posted On 2014-04-13