Mutagenetix > Incidental Mutation

Incidental Mutation 'R0379:Serpinf1'

30884

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

038585-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.203) question?

Stock #

R0379 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75300855-75313449 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 75304771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 197 (I197L)

Ref Sequence

ENSEMBL: ENSMUSP00000121180 (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: I249L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000000769
Gene: ENSMUSG00000000753
AA Change: I249L

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
SERPIN	62	210	7.93e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000138661
AA Change: I197L

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000121180
Gene: ENSMUSG00000000753
AA Change: I197L

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000131531
Gene: ENSMUSG00000000753

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
Pfam:Serpin	1	122	7.9e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168902

SMART Domains

Protein: ENSMUSP00000131043
Gene: ENSMUSG00000000753

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 90.9%

Validation Efficiency

98% (79/81)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930512M02Rik	A	G	11: 11,539,365 (GRCm39)		probably benign	Het
Apba1	A	C	19: 23,912,194 (GRCm39)	N558T	probably damaging	Het
Arfgef2	T	A	2: 166,702,320 (GRCm39)		probably null	Het
Arsb	T	C	13: 94,077,135 (GRCm39)	S501P	probably benign	Het
Atp10b	A	G	11: 43,145,141 (GRCm39)	T1295A	probably benign	Het
Atp8b5	G	T	4: 43,361,898 (GRCm39)	R648L	probably damaging	Het
Bcl2a1b	T	C	9: 89,081,789 (GRCm39)	I126T	possibly damaging	Het
Brd9	T	C	13: 74,090,802 (GRCm39)		probably benign	Het
Cd93	T	C	2: 148,283,430 (GRCm39)		probably benign	Het
Chd5	A	G	4: 152,467,778 (GRCm39)	K1692R	probably benign	Het
Clcn4	T	C	7: 7,299,791 (GRCm39)	T13A	probably damaging	Het
Clec14a	A	G	12: 58,315,580 (GRCm39)	F14S	possibly damaging	Het
Clec4g	A	G	8: 3,768,440 (GRCm39)	V97A	probably benign	Het
Col24a1	G	A	3: 145,229,897 (GRCm39)	R1483K	possibly damaging	Het
Crem	A	T	18: 3,299,226 (GRCm39)	V82D	probably damaging	Het
Ctnna2	T	A	6: 77,618,423 (GRCm39)	T180S	probably benign	Het
Cybrd1	T	C	2: 70,960,099 (GRCm39)	I99T	probably benign	Het
Cyp4a32	G	A	4: 115,478,671 (GRCm39)	V468M	probably damaging	Het
Dlk1	A	G	12: 109,420,985 (GRCm39)		probably benign	Het
Dnaaf9	C	T	2: 130,627,466 (GRCm39)		probably benign	Het
Dnah7b	A	T	1: 46,179,336 (GRCm39)	Y1003F	probably benign	Het
Egfem1	A	C	3: 29,722,399 (GRCm39)	E376A	possibly damaging	Het
Etl4	T	A	2: 20,812,165 (GRCm39)	I1416K	probably damaging	Het
Fbxl4	A	G	4: 22,386,106 (GRCm39)	T238A	probably benign	Het
Fer1l6	A	G	15: 58,420,187 (GRCm39)	I33M	probably benign	Het
Fndc3a	A	G	14: 72,794,049 (GRCm39)	S830P	probably damaging	Het
Fras1	C	T	5: 96,903,368 (GRCm39)	R3082*	probably null	Het
Galnt13	T	C	2: 54,950,504 (GRCm39)	V395A	possibly damaging	Het
Gpd2	C	T	2: 57,235,275 (GRCm39)	T335I	probably damaging	Het
Gucy2d	C	A	7: 98,108,209 (GRCm39)		probably null	Het
Hydin	A	G	8: 111,235,759 (GRCm39)		probably benign	Het
Ints5	G	T	19: 8,874,497 (GRCm39)	V819L	possibly damaging	Het
Klhdc10	C	G	6: 30,450,669 (GRCm39)	Q292E	possibly damaging	Het
Lmbrd2	G	A	15: 9,149,566 (GRCm39)	A67T	probably benign	Het
Lrp1	T	G	10: 127,430,838 (GRCm39)	T404P	probably damaging	Het
Marchf7	T	C	2: 60,064,470 (GRCm39)	S249P	probably benign	Het
Mcm10	T	A	2: 5,013,434 (GRCm39)	K66M	probably benign	Het
Mtmr7	C	A	8: 41,004,642 (GRCm39)	D645Y	probably damaging	Het
Muc6	T	A	7: 141,216,868 (GRCm39)	I2602F	possibly damaging	Het
Myh13	G	A	11: 67,260,121 (GRCm39)		probably benign	Het
Myo18a	G	A	11: 77,741,632 (GRCm39)	V1776I	possibly damaging	Het
Ncapg2	T	C	12: 116,406,695 (GRCm39)	L957S	probably damaging	Het
Ncoa3	T	C	2: 165,896,422 (GRCm39)	S442P	probably damaging	Het
Or5t5	G	A	2: 86,616,079 (GRCm39)	E2K	probably benign	Het
Or6x1	G	A	9: 40,098,729 (GRCm39)	G106D	probably damaging	Het
Or7g32	T	A	9: 19,388,776 (GRCm39)	T257S	possibly damaging	Het
Pdcd6	G	T	13: 74,457,831 (GRCm39)	N113K	possibly damaging	Het
Pfkfb4	C	T	9: 108,856,810 (GRCm39)		probably benign	Het
Pfkm	A	G	15: 98,024,195 (GRCm39)	H401R	probably benign	Het
Phldb2	C	A	16: 45,601,814 (GRCm39)	D754Y	probably damaging	Het
Plekhb2	T	A	1: 34,902,195 (GRCm39)	M49K	probably damaging	Het
Polrmt	A	G	10: 79,573,445 (GRCm39)	S1057P	possibly damaging	Het
Prps1l1	A	G	12: 35,035,077 (GRCm39)	N64S	probably benign	Het
Prss3l	T	G	6: 41,422,190 (GRCm39)		probably benign	Het
Psg16	T	C	7: 16,864,583 (GRCm39)	S393P	probably benign	Het
Rundc1	C	T	11: 101,315,973 (GRCm39)	T15I	probably benign	Het
Scaf11	A	G	15: 96,329,697 (GRCm39)	L143S	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Siglec1	C	T	2: 130,916,445 (GRCm39)		probably benign	Het
Slc28a1	G	A	7: 80,787,925 (GRCm39)	V271I	probably benign	Het
Sntg1	T	C	1: 8,853,048 (GRCm39)	D34G	probably damaging	Het
Sptbn4	A	T	7: 27,059,161 (GRCm39)		probably benign	Het
Suclg1	T	C	6: 73,233,211 (GRCm39)	I51T	possibly damaging	Het
Syne1	C	T	10: 5,491,989 (GRCm39)	R9Q	probably damaging	Het
Trim47	T	A	11: 115,997,344 (GRCm39)	H470L	probably damaging	Het
Ttc41	T	A	10: 86,548,841 (GRCm39)	Y12N	possibly damaging	Het
Tubgcp2	T	C	7: 139,612,105 (GRCm39)	E69G	probably damaging	Het
Tubgcp3	G	A	8: 12,691,116 (GRCm39)	T474M	probably damaging	Het
Ubr5	A	T	15: 38,019,201 (GRCm39)	N777K	probably benign	Het
Ush2a	T	C	1: 188,184,016 (GRCm39)	L1440P	probably damaging	Het
Usp28	A	C	9: 48,935,367 (GRCm39)	D458A	possibly damaging	Het
Vcan	A	T	13: 89,851,665 (GRCm39)	D1098E	probably damaging	Het
Vmn1r73	C	T	7: 11,490,773 (GRCm39)	T197I	probably benign	Het
Vmn2r15	T	C	5: 109,434,344 (GRCm39)	S787G	probably damaging	Het
Vmn2r90	T	A	17: 17,948,401 (GRCm39)	I549N	probably damaging	Het
Vps33b	T	A	7: 79,933,162 (GRCm39)		probably null	Het
Zfp516	A	T	18: 83,005,795 (GRCm39)	K900*	probably null	Het
Zfp974	T	A	7: 27,610,357 (GRCm39)	N456I	probably damaging	Het

Other mutations in Serpinf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- CCCTGGGAGAATGAGTTCTGATAAC -3'
(R):5'- TTGCTGCTGACAGCTCAGG -3'

Posted On

2013-04-24