Incidental Mutation 'R9630:Serpinf1'
ID 725449
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.203) question?
Stock # R9630 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 75300855-75313449 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 75301852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 268 (T268S)
Ref Sequence ENSEMBL: ENSMUSP00000000769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000769] [ENSMUST00000125982] [ENSMUST00000137103] [ENSMUST00000138661] [ENSMUST00000168902]
AlphaFold P97298
Predicted Effect probably benign
Transcript: ENSMUST00000000769
AA Change: T268S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000000769
Gene: ENSMUSG00000000753
AA Change: T268S

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
SERPIN 62 414 5.22e-128 SMART
Predicted Effect probably benign
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 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 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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aoc1l1 A G 6: 48,952,756 (GRCm39) D227G probably damaging Het
Arhgap17 A G 7: 122,907,540 (GRCm39) M274T probably benign Het
Bco2 T C 9: 50,456,757 (GRCm39) T128A possibly damaging Het
Bcr T A 10: 74,966,950 (GRCm39) L519Q probably damaging Het
Cadps2 A T 6: 23,587,571 (GRCm39) S306R probably benign Het
Cage1 T C 13: 38,206,855 (GRCm39) E330G probably damaging Het
Ccdc8 A G 7: 16,728,733 (GRCm39) K74R possibly damaging Het
Cdc42ep2 C A 19: 5,968,363 (GRCm39) G114V Het
Celsr3 T C 9: 108,704,296 (GRCm39) S260P probably benign Het
Clic4 G A 4: 134,944,476 (GRCm39) T233I probably damaging Het
Clip2 C A 5: 134,531,934 (GRCm39) D624Y probably damaging Het
Clock A G 5: 76,393,281 (GRCm39) S221P probably benign Het
Creb3l2 G T 6: 37,356,808 (GRCm39) S86R possibly damaging Het
Cspp1 G A 1: 10,108,292 (GRCm39) probably benign Het
Dusp13b A T 14: 21,784,974 (GRCm39) N128K probably benign Het
Efnb2 T C 8: 8,670,617 (GRCm39) S328G probably damaging Het
Egf A G 3: 129,518,844 (GRCm39) L335P possibly damaging Het
Eml4 T A 17: 83,717,572 (GRCm39) V48D probably damaging Het
Fat2 A C 11: 55,147,605 (GRCm39) V3879G probably benign Het
Fcgbpl1 T C 7: 27,836,624 (GRCm39) L181P probably damaging Het
Flnb T A 14: 7,926,438 (GRCm38) Y1827* probably null Het
Fuca2 A T 10: 13,378,820 (GRCm39) Y71F probably benign Het
Gcn1 C A 5: 115,741,349 (GRCm39) H1463N probably damaging Het
Ifitm10 C T 7: 141,924,909 (GRCm39) A48T probably damaging Het
Iqce T C 5: 140,666,591 (GRCm39) D385G possibly damaging Het
Kdm5b T A 1: 134,512,971 (GRCm39) probably null Het
Kdm7a A T 6: 39,150,239 (GRCm39) S178T probably damaging Het
Mmp12 T A 9: 7,347,516 (GRCm39) M31K probably benign Het
Mon2 C T 10: 122,874,415 (GRCm39) R311H probably damaging Het
Myh15 A G 16: 48,980,341 (GRCm39) T1488A probably benign Het
Myo15a T A 11: 60,407,988 (GRCm39) C3159S probably damaging Het
Nf1 T C 11: 79,302,470 (GRCm39) V346A probably damaging Het
Nfkbib A T 7: 28,461,304 (GRCm39) Y114* probably null Het
Nr2c1 T A 10: 93,998,285 (GRCm39) D76E probably benign Het
Obscn G A 11: 58,943,397 (GRCm39) R4251C probably benign Het
Or1ak2 T C 2: 36,827,653 (GRCm39) I174T probably damaging Het
Or4a74 C A 2: 89,440,349 (GRCm39) M32I probably benign Het
Or5m10b A G 2: 85,699,493 (GRCm39) M186V probably benign Het
Or6c33 T C 10: 129,853,410 (GRCm39) F60S probably damaging Het
Or8h7 A C 2: 86,720,956 (GRCm39) S188A probably damaging Het
Pced1a A T 2: 130,261,109 (GRCm39) I416N probably benign Het
Pdzd2 G T 15: 12,374,443 (GRCm39) D1897E probably benign Het
Pign A T 1: 105,481,591 (GRCm39) F802I probably benign Het
Pik3c2g C A 6: 139,599,237 (GRCm39) Q118K possibly damaging Het
Plcl2 A G 17: 50,947,147 (GRCm39) M1009V probably benign Het
Ppil6 T A 10: 41,370,550 (GRCm39) D59E probably benign Het
Rad23a T C 8: 85,564,919 (GRCm39) D152G probably benign Het
Rif1 A G 2: 51,979,607 (GRCm39) I430V probably damaging Het
Rint1 T C 5: 24,020,810 (GRCm39) V611A possibly damaging Het
Rsf1 GGCG GGCGACGGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Sall4 A G 2: 168,596,408 (GRCm39) S811P probably benign Het
Scaf11 G A 15: 96,316,049 (GRCm39) P1172S probably damaging Het
Sel1l3 T G 5: 53,342,117 (GRCm39) N368H possibly damaging Het
Sele C A 1: 163,879,523 (GRCm39) P352Q probably damaging Het
Sez6 G A 11: 77,865,121 (GRCm39) E623K possibly damaging Het
Sis A T 3: 72,828,722 (GRCm39) N1152K probably benign Het
Slc16a13 T C 11: 70,108,597 (GRCm39) E411G possibly damaging Het
Slc22a23 T C 13: 34,379,390 (GRCm39) N459S possibly damaging Het
Srpk1 C A 17: 28,819,404 (GRCm39) K268N probably benign Het
Ssbp3 A G 4: 106,895,426 (GRCm39) Y258C probably damaging Het
Ssc5d C T 7: 4,939,426 (GRCm39) P621S probably damaging Het
Strada T C 11: 106,077,781 (GRCm39) Q61R unknown Het
Strn3 G A 12: 51,657,013 (GRCm39) T755I probably damaging Het
Taf4b C G 18: 14,930,077 (GRCm39) P150A probably damaging Het
Tmem236 T A 2: 14,223,815 (GRCm39) H201Q probably benign Het
Top3b A G 16: 16,710,354 (GRCm39) E728G probably benign Het
Tshr C T 12: 91,504,409 (GRCm39) P449L probably damaging Het
Ugt2b36 C T 5: 87,239,773 (GRCm39) G204D possibly damaging Het
Vldlr A T 19: 27,207,623 (GRCm39) Q37L probably damaging Het
Zfat A T 15: 67,990,793 (GRCm39) I1031N 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
R1588:Serpinf1 UTSW 11 75,301,076 (GRCm39) missense probably damaging 0.99
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
Predicted Primers PCR Primer
(F):5'- GTCCTGCAGAGACTTGGTAAG -3'
(R):5'- AGGCTGAGAAGAAAACTCCC -3'

Sequencing Primer
(F):5'- CAGAGACTTGGTAAGTTCGCC -3'
(R):5'- TCCCTACTCATGGAAGGACTG -3'
Posted On 2022-09-12