Incidental Mutation 'R1588:Serpinf1'
ID 177653
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 039625-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.203) question?
Stock # R1588 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 75300855-75313449 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 75301076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 380 (R380C)
Ref Sequence ENSEMBL: ENSMUSP00000000769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000769] [ENSMUST00000044530] [ENSMUST00000137103] [ENSMUST00000138661] [ENSMUST00000168902]
AlphaFold P97298
Predicted Effect probably damaging
Transcript: ENSMUST00000000769
AA Change: R380C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000000769
Gene: ENSMUSG00000000753
AA Change: R380C

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
SERPIN 62 414 5.22e-128 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000044530
SMART Domains Protein: ENSMUSP00000047505
Gene: ENSMUSG00000018809

DomainStartEndE-ValueType
Pfam:TPR_11 65 132 2.4e-10 PFAM
SET 231 576 4.85e-1 SMART
Blast:TPR 694 726 1e-6 BLAST
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 benign
Transcript: ENSMUST00000138661
SMART Domains Protein: ENSMUSP00000121180
Gene: ENSMUSG00000000753

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 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: 98.9%
  • 3x: 98.0%
  • 10x: 95.0%
  • 20x: 87.7%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A G 14: 118,771,484 (GRCm39) V869A probably benign Het
Ablim1 C T 19: 57,071,979 (GRCm39) M1I probably null Het
Adamts13 A T 2: 26,865,687 (GRCm39) I81F probably benign Het
Akap11 A T 14: 78,747,685 (GRCm39) N1567K possibly damaging Het
Arrdc4 G A 7: 68,391,484 (GRCm39) T261M possibly damaging Het
C4b T C 17: 34,959,999 (GRCm39) I326V probably benign Het
Casp8ap2 G A 4: 32,640,541 (GRCm39) A532T probably benign Het
Ccdc134 A G 15: 82,019,337 (GRCm39) T187A probably benign Het
Cdh8 T C 8: 99,917,039 (GRCm39) N359D probably damaging Het
Cep97 A G 16: 55,748,184 (GRCm39) L82P probably damaging Het
Cfap53 A T 18: 74,440,444 (GRCm39) R404S probably benign Het
Chrng C A 1: 87,135,229 (GRCm39) F179L probably damaging Het
Ddi1 A T 9: 6,265,391 (GRCm39) I326K probably damaging Het
Decr2 T C 17: 26,302,002 (GRCm39) T243A possibly damaging Het
Dip2c T C 13: 9,715,900 (GRCm39) V1502A probably damaging Het
Edem1 T C 6: 108,818,640 (GRCm39) V216A probably damaging Het
Fat2 A C 11: 55,174,230 (GRCm39) V2161G probably damaging Het
Fbn1 T C 2: 125,161,034 (GRCm39) T2169A probably benign Het
Fmn1 T C 2: 113,196,043 (GRCm39) V581A unknown Het
Hip1r A T 5: 124,134,638 (GRCm39) D350V probably damaging Het
Ift140 G A 17: 25,306,959 (GRCm39) R898H probably damaging Het
Il12a A G 3: 68,602,896 (GRCm39) I159V probably benign Het
Itprid1 A G 6: 55,955,488 (GRCm39) E1032G possibly damaging Het
Kl A G 5: 150,906,097 (GRCm39) E489G probably benign Het
Klhl3 T C 13: 58,161,712 (GRCm39) E461G probably damaging Het
Masp1 T C 16: 23,313,404 (GRCm39) Y177C probably damaging Het
Nop58 T A 1: 59,742,031 (GRCm39) Y187N probably damaging Het
Npc1l1 A G 11: 6,167,785 (GRCm39) V1002A probably benign Het
Ntaq1 T A 15: 58,021,285 (GRCm39) probably null Het
Ntrk1 A T 3: 87,687,384 (GRCm39) Y683* probably null Het
Or11g26 A G 14: 50,753,584 (GRCm39) I308V probably benign Het
Or13j1 C T 4: 43,705,923 (GRCm39) C215Y probably damaging Het
Or2w4 C T 13: 21,796,083 (GRCm39) D19N probably benign Het
Or8k21 T C 2: 86,144,874 (GRCm39) Y252C probably damaging Het
Osbpl6 T C 2: 76,409,560 (GRCm39) V367A probably benign Het
Phip A G 9: 82,782,881 (GRCm39) W855R probably damaging Het
Phlpp1 A G 1: 106,308,115 (GRCm39) S1131G probably damaging Het
Pkdrej A T 15: 85,701,442 (GRCm39) V1498E probably benign Het
Pramel22 G T 4: 143,382,121 (GRCm39) L192M probably damaging Het
Prkaa2 T C 4: 104,908,420 (GRCm39) N152D probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Pxdn G A 12: 30,052,558 (GRCm39) V732M probably damaging Het
Rccd1 C T 7: 79,969,859 (GRCm39) W223* probably null Het
Riox2 T A 16: 59,295,946 (GRCm39) S16T possibly damaging Het
Scn5a C T 9: 119,350,367 (GRCm39) V836I probably damaging Het
Sf3b1 A T 1: 55,036,336 (GRCm39) N912K probably benign Het
Shprh T A 10: 11,040,488 (GRCm39) C134S probably damaging Het
Skint8 T A 4: 111,785,924 (GRCm39) C123* probably null Het
Slc16a13 G T 11: 70,109,421 (GRCm39) S360* probably null Het
Srr A G 11: 74,799,629 (GRCm39) I282T possibly damaging Het
Trpm1 T C 7: 63,873,565 (GRCm39) F607L possibly damaging Het
Ttn T C 2: 76,539,870 (GRCm39) D34372G probably benign Het
Tub C T 7: 108,628,888 (GRCm39) T401I probably damaging Het
Wdhd1 T C 14: 47,493,693 (GRCm39) E9G probably damaging Het
Yipf3 T A 17: 46,561,787 (GRCm39) F198Y possibly damaging Het
Zfp955a C T 17: 33,460,791 (GRCm39) R447K probably benign 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
R1720:Serpinf1 UTSW 11 75,304,807 (GRCm39) missense probably null 0.26
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'- GGCCGCCTTCCTGGAATGTATAATC -3'
(R):5'- GTGCCTCATAGCTCACAAGTCACTG -3'

Sequencing Primer
(F):5'- GGAATGTATAATCAGCTTCCCTCTG -3'
(R):5'- gtgtgtgtgtgtggtgtTAATGG -3'
Posted On 2014-04-24