Incidental Mutation 'R1961:Serpinf1'
ID 317951
Institutional Source Beutler Lab
Gene Symbol Serpinf1
Ensembl Gene ENSMUSG00000000753
Gene Name serine (or cysteine) peptidase inhibitor, clade F, member 1
Synonyms alpha-2 antiplasmin, Pedfl, Pedf, pigment epithelium derived factor, EPC-1, Sdf3
MMRRC Submission 039975-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R1961 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 75409769-75422701 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 75416419 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 31 (V31I)
Ref Sequence ENSEMBL: ENSMUSP00000114761 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000769] [ENSMUST00000125982] [ENSMUST00000137103] [ENSMUST00000138661] [ENSMUST00000155009] [ENSMUST00000168902]
AlphaFold P97298
Predicted Effect probably benign
Transcript: ENSMUST00000000769
AA Change: V31I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000000769
Gene: ENSMUSG00000000753
AA Change: V31I

signal peptide 1 19 N/A INTRINSIC
SERPIN 62 414 5.22e-128 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125982
AA Change: V31I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000126807
Gene: ENSMUSG00000000753
AA Change: V31I

signal peptide 1 19 N/A INTRINSIC
Pfam:Serpin 55 147 4.9e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137103
AA Change: V31I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000114761
Gene: ENSMUSG00000000753
AA Change: V31I

signal peptide 1 19 N/A INTRINSIC
SERPIN 62 210 7.93e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000138661
AA Change: V31I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000121180
Gene: ENSMUSG00000000753
AA Change: V31I

signal peptide 1 19 N/A INTRINSIC
SERPIN 62 205 1.47e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139403
Predicted Effect probably benign
Transcript: ENSMUST00000155009
AA Change: V31I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000131531
Gene: ENSMUSG00000000753
AA Change: V31I

signal peptide 1 19 N/A INTRINSIC
PDB:1IMV|A 27 64 2e-16 PDB
SCOP:d1imva_ 35 64 1e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167281
SMART Domains Protein: ENSMUSP00000133230
Gene: ENSMUSG00000000753

Pfam:Serpin 1 122 7.9e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168902
SMART Domains Protein: ENSMUSP00000131043
Gene: ENSMUSG00000000753

signal peptide 1 19 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 99% (93/94)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serpin family that does not display the serine protease inhibitory activity shown by many of the other serpin proteins. The encoded protein is secreted and strongly inhibits angiogenesis. In addition, this protein is a neurotrophic factor involved in neuronal differentiation in retinoblastoma cells. Mutations in this gene were found in individuals with osteogenesis imperfecta, type VI. [provided by RefSeq, Aug 2016]
PHENOTYPE: Loss of function results in increased microvasculature, pancreatic enlargement, and prostatic hyperplasia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123L14Rik A G 6: 96,165,269 (GRCm38) S265P possibly damaging Het
3110001I22Rik T A 16: 13,677,728 (GRCm38) H230Q probably benign Het
Abcc1 T C 16: 14,396,393 (GRCm38) Y191H probably damaging Het
Abcc4 C A 14: 118,611,459 (GRCm38) V494L possibly damaging Het
Abcc4 C A 14: 118,611,456 (GRCm38) G495C probably damaging Het
Acsm4 T C 7: 119,708,740 (GRCm38) Y367H probably benign Het
Adam21 A T 12: 81,559,508 (GRCm38) Y493* probably null Het
Add2 T C 6: 86,096,756 (GRCm38) F209S probably damaging Het
Adgre4 T C 17: 55,791,497 (GRCm38) S136P probably benign Het
Aff4 T G 11: 53,372,999 (GRCm38) L282R probably damaging Het
Akt3 A G 1: 177,096,995 (GRCm38) I178T probably damaging Het
Ap3m1 T C 14: 21,041,015 (GRCm38) Y174C probably damaging Het
Atl1 A G 12: 69,953,500 (GRCm38) E308G probably benign Het
Atp8b5 T G 4: 43,369,688 (GRCm38) V942G probably damaging Het
B3gntl1 A G 11: 121,644,525 (GRCm38) probably null Het
Btrc T G 19: 45,527,343 (GRCm38) I480S probably damaging Het
Cacna1c A T 6: 118,630,322 (GRCm38) I1366N probably benign Het
Ccdc113 T A 8: 95,540,831 (GRCm38) N141K probably benign Het
Ccdc167 T C 17: 29,704,431 (GRCm38) N77D possibly damaging Het
Ccser1 T C 6: 61,313,646 (GRCm38) probably benign Het
Cenpe A G 3: 135,242,493 (GRCm38) E1230G probably damaging Het
Clec12a A C 6: 129,350,481 (GRCm38) T21P possibly damaging Het
Cyp26c1 T A 19: 37,687,377 (GRCm38) F230I probably damaging Het
Exog A G 9: 119,452,266 (GRCm38) E190G possibly damaging Het
Fam162b A G 10: 51,590,334 (GRCm38) W30R probably benign Het
Fam172a C A 13: 77,902,720 (GRCm38) H50N probably benign Het
Fndc3b G A 3: 27,456,451 (GRCm38) Q841* probably null Het
Frzb T A 2: 80,424,601 (GRCm38) Y197F probably benign Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,577,224 (GRCm38) probably null Het
Gabrb1 G A 5: 71,700,336 (GRCm38) R43Q probably benign Het
Gm21060 A T 19: 61,297,007 (GRCm38) H21Q possibly damaging Het
Gm4825 A G 15: 85,511,044 (GRCm38) noncoding transcript Het
Gm5581 A C 6: 131,168,162 (GRCm38) noncoding transcript Het
Gm9894 T C 13: 67,763,915 (GRCm38) noncoding transcript Het
Gpr15 T A 16: 58,718,007 (GRCm38) I240L probably benign Het
Gria4 A T 9: 4,519,546 (GRCm38) probably benign Het
Grid2 T C 6: 63,908,893 (GRCm38) L91S probably damaging Het
Igsf5 A C 16: 96,378,351 (GRCm38) T215P probably damaging Het
Kif13a G A 13: 46,864,838 (GRCm38) probably benign Het
Kif21a G A 15: 90,970,848 (GRCm38) A703V probably damaging Het
Kif27 T G 13: 58,293,123 (GRCm38) R1159S probably benign Het
Kifc2 T A 15: 76,662,825 (GRCm38) L226H probably damaging Het
Klf10 T C 15: 38,295,996 (GRCm38) H435R probably damaging Het
Masp1 T C 16: 23,452,932 (GRCm38) Y623C probably damaging Het
Megf10 T A 18: 57,212,354 (GRCm38) C118S probably damaging Het
Mical3 A G 6: 120,982,607 (GRCm38) V909A possibly damaging Het
Mmrn2 A G 14: 34,398,475 (GRCm38) probably null Het
Mpeg1 G A 19: 12,462,911 (GRCm38) V578M probably damaging Het
Nlrp2 T C 7: 5,327,738 (GRCm38) E553G probably damaging Het
Nmi A T 2: 51,948,620 (GRCm38) S301T probably benign Het
Nr2f2 G T 7: 70,358,155 (GRCm38) T193K possibly damaging Het
Ntng2 T C 2: 29,197,098 (GRCm38) N404S probably damaging Het
Olfr54 T G 11: 51,027,475 (GRCm38) S158A probably benign Het
Olfr594 T C 7: 103,219,997 (GRCm38) V93A probably benign Het
Oplah G A 15: 76,297,464 (GRCm38) T1119I probably damaging Het
Otoa T A 7: 121,118,569 (GRCm38) D336E probably benign Het
Pde4b A G 4: 102,597,460 (GRCm38) E108G probably damaging Het
Pdgfrb G A 18: 61,061,505 (GRCm38) R118H possibly damaging Het
Phactr4 G A 4: 132,377,248 (GRCm38) T256I probably benign Het
Pla2g3 C T 11: 3,490,983 (GRCm38) T316I probably benign Het
Plekhg4 A G 8: 105,381,464 (GRCm38) E982G probably damaging Het
Pmfbp1 T G 8: 109,530,144 (GRCm38) probably benign Het
Pot1b A T 17: 55,662,531 (GRCm38) Y546N probably damaging Het
Rab11fip5 C A 6: 85,348,991 (GRCm38) Q144H possibly damaging Het
Reep3 A T 10: 67,039,499 (GRCm38) probably null Het
Rgl2 T C 17: 33,933,615 (GRCm38) L400P probably damaging Het
Rnf122 A G 8: 31,124,846 (GRCm38) probably benign Het
Scgb1b21 G T 7: 33,527,378 (GRCm38) noncoding transcript Het
Sec63 A T 10: 42,823,886 (GRCm38) K647N probably damaging Het
Sema4a C T 3: 88,438,176 (GRCm38) probably benign Het
Sez6l C T 5: 112,424,615 (GRCm38) probably benign Het
Shank3 T C 15: 89,557,964 (GRCm38) S1612P possibly damaging Het
Slc19a3 G A 1: 83,022,798 (GRCm38) T166M probably benign Het
Slc22a29 C A 19: 8,169,193 (GRCm38) R415M probably benign Het
Slc38a11 A T 2: 65,330,339 (GRCm38) F304I possibly damaging Het
Slitrk1 T A 14: 108,912,190 (GRCm38) N363I probably damaging Het
Slx4ip A G 2: 137,067,681 (GRCm38) T129A probably benign Het
Spop T C 11: 95,491,711 (GRCm38) V332A possibly damaging Het
Sptlc1 A C 13: 53,358,880 (GRCm38) D147E probably benign Het
Tnpo1 T C 13: 98,852,932 (GRCm38) Y754C probably damaging Het
Tox C A 4: 6,688,886 (GRCm38) V493L probably damaging Het
Ttbk1 A C 17: 46,480,224 (GRCm38) F45V probably damaging Het
Ttc27 T A 17: 74,780,856 (GRCm38) M472K probably damaging Het
Ttll7 A G 3: 146,915,795 (GRCm38) probably benign Het
Ttn T A 2: 76,798,212 (GRCm38) M14535L possibly damaging Het
Ttn A T 2: 76,721,760 (GRCm38) C22851S probably benign Het
Txlna T C 4: 129,640,262 (GRCm38) T54A probably benign Het
Usp33 T C 3: 152,380,628 (GRCm38) V668A probably damaging Het
Vmn2r28 C A 7: 5,481,071 (GRCm38) C710F possibly damaging Het
Vmn2r8 T A 5: 108,798,095 (GRCm38) M549L probably benign Het
Vwa5b2 T C 16: 20,602,191 (GRCm38) probably null Het
Wnk1 T C 6: 119,969,247 (GRCm38) I648M probably damaging Het
Other mutations in Serpinf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
clenched UTSW 11 75,413,905 (GRCm38) critical splice donor site probably null
R0306:Serpinf1 UTSW 11 75,413,935 (GRCm38) missense probably damaging 1.00
R0379:Serpinf1 UTSW 11 75,413,945 (GRCm38) missense probably benign 0.25
R1588:Serpinf1 UTSW 11 75,410,250 (GRCm38) missense probably damaging 0.99
R1720:Serpinf1 UTSW 11 75,413,981 (GRCm38) missense probably null 0.26
R1917:Serpinf1 UTSW 11 75,411,007 (GRCm38) missense possibly damaging 0.72
R4704:Serpinf1 UTSW 11 75,411,041 (GRCm38) missense probably damaging 0.99
R5138:Serpinf1 UTSW 11 75,415,028 (GRCm38) missense probably damaging 1.00
R5618:Serpinf1 UTSW 11 75,410,184 (GRCm38) missense possibly damaging 0.47
R6327:Serpinf1 UTSW 11 75,413,905 (GRCm38) critical splice donor site probably null
R7031:Serpinf1 UTSW 11 75,410,196 (GRCm38) missense probably damaging 1.00
R7171:Serpinf1 UTSW 11 75,417,985 (GRCm38) missense possibly damaging 0.88
R7436:Serpinf1 UTSW 11 75,416,316 (GRCm38) missense probably benign 0.11
R8344:Serpinf1 UTSW 11 75,415,571 (GRCm38) missense unknown
R9297:Serpinf1 UTSW 11 75,416,425 (GRCm38) missense probably damaging 0.96
R9630:Serpinf1 UTSW 11 75,411,026 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-05-19