Incidental Mutation 'R1720:Serpinf1'
ID 191396
Institutional Source Beutler Lab
Gene Symbol Serpinf1
Ensembl Gene ENSMUSG00000000753
Gene Name serine (or cysteine) peptidase inhibitor, clade F, member 1
Synonyms Pedf, EPC-1, Sdf3, pigment epithelium derived factor, Pedfl
MMRRC Submission 039752-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.203) question?
Stock # R1720 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 75300855-75313449 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75304807 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 185 (T185S)
Ref Sequence ENSEMBL: ENSMUSP00000121180 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000769] [ENSMUST00000125982] [ENSMUST00000137103] [ENSMUST00000138661] [ENSMUST00000155009] [ENSMUST00000168902]
AlphaFold P97298
Predicted Effect probably null
Transcript: ENSMUST00000000769
AA Change: T237S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000000769
Gene: ENSMUSG00000000753
AA Change: T237S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
SERPIN 62 414 5.22e-128 SMART
Predicted Effect probably null
Transcript: ENSMUST00000125982
SMART Domains Protein: ENSMUSP00000126807
Gene: ENSMUSG00000000753

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Serpin 55 147 4.9e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137103
SMART Domains Protein: ENSMUSP00000114761
Gene: ENSMUSG00000000753

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
SERPIN 62 210 7.93e-2 SMART
Predicted Effect probably null
Transcript: ENSMUST00000138661
AA Change: T185S

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000121180
Gene: ENSMUSG00000000753
AA Change: T185S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
SERPIN 62 205 1.47e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139403
Predicted Effect probably null
Transcript: ENSMUST00000155009
SMART Domains Protein: ENSMUSP00000131531
Gene: ENSMUSG00000000753

DomainStartEndE-ValueType
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

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

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot5 A G 12: 84,122,655 (GRCm39) D413G probably benign Het
Actr5 G T 2: 158,478,057 (GRCm39) V476F possibly damaging Het
Adhfe1 G A 1: 9,637,125 (GRCm39) D426N probably benign Het
Adra1a T C 14: 66,875,727 (GRCm39) L234P probably damaging Het
Akap9 G T 5: 4,022,791 (GRCm39) V1207L possibly damaging Het
Anapc2 A G 2: 25,164,724 (GRCm39) D36G probably benign Het
Apol8 A G 15: 77,633,566 (GRCm39) S337P possibly damaging Het
Asxl3 A T 18: 22,585,492 (GRCm39) D139V probably damaging Het
Atp13a4 A T 16: 29,227,746 (GRCm39) V1037E probably damaging Het
Baat A T 4: 49,490,231 (GRCm39) F284L probably benign Het
Bltp3b T C 10: 89,618,448 (GRCm39) V141A probably damaging Het
C1qtnf6 A T 15: 78,411,640 (GRCm39) F40Y probably damaging Het
Caskin2 G A 11: 115,693,608 (GRCm39) H508Y probably damaging Het
Cass4 A T 2: 172,269,654 (GRCm39) I579F probably damaging Het
Cdk15 A G 1: 59,328,917 (GRCm39) Y277C probably damaging Het
Cit G A 5: 116,105,956 (GRCm39) D947N probably damaging Het
Clint1 T A 11: 45,778,237 (GRCm39) I126K probably damaging Het
Col6a4 C T 9: 105,903,671 (GRCm39) G1640E probably damaging Het
Ddx10 T C 9: 53,149,371 (GRCm39) K119E probably damaging Het
Dennd1a G A 2: 37,690,209 (GRCm39) Q964* probably null Het
Dnhd1 T C 7: 105,343,035 (GRCm39) F1460L probably benign Het
Edc3 T C 9: 57,655,462 (GRCm39) probably null Het
Edn1 A G 13: 42,458,826 (GRCm39) E163G probably benign Het
Efl1 A T 7: 82,332,929 (GRCm39) D317V possibly damaging Het
Elapor2 T G 5: 9,478,407 (GRCm39) C424G probably damaging Het
F2 A T 2: 91,459,175 (GRCm39) Y430* probably null Het
Faap100 C T 11: 120,265,407 (GRCm39) V490M probably damaging Het
Fuz G T 7: 44,546,415 (GRCm39) G104W probably damaging Het
Greb1l C A 18: 10,553,848 (GRCm39) H1616Q probably benign Het
Grm1 G T 10: 10,622,538 (GRCm39) probably null Het
Gucy2d G T 7: 98,126,437 (GRCm39) A1098S probably benign Het
H1f0 T A 15: 78,913,195 (GRCm39) S92T possibly damaging Het
Hbb-bt T A 7: 103,463,083 (GRCm39) probably benign Het
Heg1 G A 16: 33,527,549 (GRCm39) A170T probably benign Het
Hspa4l A T 3: 40,736,049 (GRCm39) K578* probably null Het
Ikbke A G 1: 131,186,947 (GRCm39) S582P possibly damaging Het
Itga6 T A 2: 71,650,510 (GRCm39) F185L probably damaging Het
Itgal T A 7: 126,906,099 (GRCm39) D396E probably benign Het
Kif5b T C 18: 6,213,427 (GRCm39) H687R probably benign Het
Kmt2c T C 5: 25,504,182 (GRCm39) N3709D probably benign Het
Lipf A T 19: 33,943,066 (GRCm39) K125* probably null Het
Lrif1 A T 3: 106,640,452 (GRCm39) E512D probably damaging Het
Matn2 T A 15: 34,345,420 (GRCm39) Y142* probably null Het
Med13l A G 5: 118,880,060 (GRCm39) T1051A probably damaging Het
Mpp3 T A 11: 101,916,582 (GRCm39) M1L possibly damaging Het
Mro C T 18: 74,009,806 (GRCm39) S159L probably benign Het
Myh15 T A 16: 48,913,145 (GRCm39) D367E probably damaging Het
Myo1g T C 11: 6,462,490 (GRCm39) Q547R probably benign Het
Neb T C 2: 52,097,733 (GRCm39) I902M probably benign Het
Nsd1 G A 13: 55,394,711 (GRCm39) D771N probably damaging Het
Or10x4 A G 1: 174,219,486 (GRCm39) I284V probably benign Het
Or14a256 T C 7: 86,265,664 (GRCm39) N63S probably damaging Het
Or2a20 T C 6: 43,194,494 (GRCm39) S216P probably damaging Het
Or4e5 A C 14: 52,728,051 (GRCm39) Y40* probably null Het
Or8b48 C T 9: 38,492,585 (GRCm39) T4I probably benign Het
Penk A G 4: 4,134,240 (GRCm39) Y136H probably damaging Het
Prdm6 C T 18: 53,673,272 (GRCm39) S144L probably benign Het
Ptprq T A 10: 107,522,155 (GRCm39) I599F probably damaging Het
Racgap1 A T 15: 99,526,650 (GRCm39) C304* probably null Het
Rbp3 T C 14: 33,678,866 (GRCm39) V938A probably benign Het
Rpp30 A G 19: 36,071,827 (GRCm39) K132E probably damaging Het
Rxfp2 A T 5: 149,966,564 (GRCm39) R101* probably null Het
Ryr1 A T 7: 28,801,295 (GRCm39) V823E probably damaging Het
S100pbp A T 4: 129,075,886 (GRCm39) D146E probably damaging Het
Sdr9c7 T A 10: 127,738,127 (GRCm39) V135E probably damaging Het
Serpinb12 A G 1: 106,874,344 (GRCm39) D23G probably damaging Het
Slc23a1 A C 18: 35,758,904 (GRCm39) C96G possibly damaging Het
Slc5a4a C T 10: 76,025,103 (GRCm39) probably null Het
Spmap1 A G 11: 97,662,435 (GRCm39) F146L probably damaging Het
Suco A T 1: 161,661,623 (GRCm39) L936Q probably damaging Het
Tmem144 T C 3: 79,732,606 (GRCm39) Y224C probably damaging Het
Tpm4 T A 8: 72,898,598 (GRCm39) probably null Het
Ttn T C 2: 76,560,414 (GRCm39) E29329G probably damaging Het
Txn1 T C 4: 57,943,922 (GRCm39) I101V probably benign Het
Ube2o A T 11: 116,435,433 (GRCm39) C452S probably benign Het
Uxs1 A T 1: 43,804,081 (GRCm39) I278N probably damaging Het
Vps54 T C 11: 21,256,519 (GRCm39) F663L probably damaging Het
Wdfy3 CG C 5: 102,074,391 (GRCm39) probably null Het
Zc3h11a A G 1: 133,549,439 (GRCm39) S741P probably damaging Het
Zdbf2 G A 1: 63,342,436 (GRCm39) V272I possibly damaging Het
Zdhhc24 A G 19: 4,928,979 (GRCm39) N68S probably damaging Het
Znfx1 A T 2: 166,885,986 (GRCm39) L858* probably null Het
Other mutations in Serpinf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
clenched UTSW 11 75,304,731 (GRCm39) critical splice donor site probably null
R0306:Serpinf1 UTSW 11 75,304,761 (GRCm39) missense probably damaging 1.00
R0379:Serpinf1 UTSW 11 75,304,771 (GRCm39) missense probably benign 0.25
R1588:Serpinf1 UTSW 11 75,301,076 (GRCm39) missense probably damaging 0.99
R1917:Serpinf1 UTSW 11 75,301,833 (GRCm39) missense possibly damaging 0.72
R1961:Serpinf1 UTSW 11 75,307,245 (GRCm39) missense probably benign 0.01
R4704:Serpinf1 UTSW 11 75,301,867 (GRCm39) missense probably damaging 0.99
R5138:Serpinf1 UTSW 11 75,305,854 (GRCm39) missense probably damaging 1.00
R5618:Serpinf1 UTSW 11 75,301,010 (GRCm39) missense possibly damaging 0.47
R6327:Serpinf1 UTSW 11 75,304,731 (GRCm39) critical splice donor site probably null
R7031:Serpinf1 UTSW 11 75,301,022 (GRCm39) missense probably damaging 1.00
R7171:Serpinf1 UTSW 11 75,308,811 (GRCm39) missense possibly damaging 0.88
R7436:Serpinf1 UTSW 11 75,307,142 (GRCm39) missense probably benign 0.11
R8344:Serpinf1 UTSW 11 75,306,397 (GRCm39) missense unknown
R9297:Serpinf1 UTSW 11 75,307,251 (GRCm39) missense probably damaging 0.96
R9630:Serpinf1 UTSW 11 75,301,852 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AAACCCATTCTCGTGACCTTGATCC -3'
(R):5'- ATGGTCTGTGCCACACATGCTG -3'

Sequencing Primer
(F):5'- cccagaaacattgataacttgcc -3'
(R):5'- CCACACATGCTGGGACC -3'
Posted On 2014-05-14