Mutagenetix > Incidental Mutation

Incidental Mutation 'R0306:Serpinf1'

35810

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

038517-MU

Accession Numbers

Essential gene?

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

Stock #

R0306 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

75300855-75313449 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75304761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 200 (Y200C)

Ref Sequence

ENSEMBL: ENSMUSP00000121180 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000769] [ENSMUST00000125982] [ENSMUST00000137103] [ENSMUST00000138661] [ENSMUST00000155009] [ENSMUST00000168902]

AlphaFold

P97298

Predicted Effect

probably damaging
Transcript: ENSMUST00000000769
AA Change: Y252C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000000769
Gene: ENSMUSG00000000753
AA Change: Y252C

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 damaging
Transcript: ENSMUST00000138661
AA Change: Y200C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121180
Gene: ENSMUSG00000000753
AA Change: Y200C

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

0.8711

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

94% (61/65)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l1	T	C	6: 48,953,020 (GRCm39)	V315A	probably damaging	Het
BC028528	C	T	3: 95,797,132 (GRCm39)		probably benign	Het
Bspry	T	C	4: 62,414,394 (GRCm39)	F329S	probably damaging	Het
Cd209a	A	G	8: 3,795,535 (GRCm39)	Y120H	probably benign	Het
Ces1f	T	C	8: 94,003,172 (GRCm39)		probably benign	Het
Cfap52	T	C	11: 67,844,896 (GRCm39)	N58D	probably benign	Het
Cfap74	G	A	4: 155,549,896 (GRCm39)		probably benign	Het
Chst8	T	C	7: 34,374,723 (GRCm39)	E372G	probably benign	Het
Cplane1	T	C	15: 8,209,373 (GRCm39)	V270A	probably damaging	Het
Ddx49	A	G	8: 70,747,322 (GRCm39)		probably benign	Het
Ddx52	G	T	11: 83,835,474 (GRCm39)	L133F	probably benign	Het
Defb26	T	A	2: 152,349,888 (GRCm39)	I131F	unknown	Het
Dip2c	T	A	13: 9,654,635 (GRCm39)	S719T	probably benign	Het
Dnmt3a	A	G	12: 3,916,096 (GRCm39)	S94G	possibly damaging	Het
Dytn	G	A	1: 63,724,272 (GRCm39)	P3S	possibly damaging	Het
Fmn2	T	C	1: 174,437,050 (GRCm39)		probably benign	Het
Gal3st1	T	A	11: 3,948,546 (GRCm39)	L251Q	probably damaging	Het
Gm19684	A	T	17: 36,438,300 (GRCm39)		probably benign	Het
Il15	T	A	8: 83,061,083 (GRCm39)		probably benign	Het
Jag1	C	T	2: 136,927,855 (GRCm39)	G852D	probably damaging	Het
Kbtbd4	A	G	2: 90,744,530 (GRCm39)		probably benign	Het
Kdm3b	C	A	18: 34,937,070 (GRCm39)	Q451K	probably benign	Het
Lrfn2	A	T	17: 49,403,283 (GRCm39)	I469F	probably damaging	Het
Mep1a	A	T	17: 43,813,534 (GRCm39)		probably benign	Het
Morn5	T	C	2: 35,944,986 (GRCm39)	F70S	probably damaging	Het
Nav2	C	A	7: 49,195,651 (GRCm39)	P1009Q	probably benign	Het
Noc3l	T	C	19: 38,796,094 (GRCm39)	Y334C	probably damaging	Het
Nsun4	A	T	4: 115,910,019 (GRCm39)	Y180*	probably null	Het
Nup210l	T	C	3: 90,114,675 (GRCm39)	I1750T	probably benign	Het
Or51s1	A	T	7: 102,559,010 (GRCm39)	I12N	probably benign	Het
Or5p53	A	T	7: 107,532,907 (GRCm39)	Y60F	probably damaging	Het
Or8u9	T	A	2: 86,002,060 (GRCm39)	I34F	possibly damaging	Het
Parp14	A	G	16: 35,676,944 (GRCm39)	L1008P	probably benign	Het
Paxbp1	A	G	16: 90,819,003 (GRCm39)	V759A	possibly damaging	Het
Prdm10	C	A	9: 31,227,520 (GRCm39)	Q42K	probably damaging	Het
Prkcsh	T	C	9: 21,917,822 (GRCm39)		probably benign	Het
Psmg1	A	G	16: 95,788,540 (GRCm39)	C138R	probably damaging	Het
Ptprb	T	C	10: 116,179,893 (GRCm39)	M1437T	probably benign	Het
Ryr3	A	G	2: 112,606,000 (GRCm39)		probably null	Het
Shox2	T	C	3: 66,881,167 (GRCm39)	H130R	probably damaging	Het
Slc22a1	A	G	17: 12,881,485 (GRCm39)	F335L	probably benign	Het
Slc44a5	A	G	3: 153,975,638 (GRCm39)	N683S	probably damaging	Het
Slc9a9	A	T	9: 95,019,987 (GRCm39)	T519S	probably benign	Het
Smarca2	T	A	19: 26,618,013 (GRCm39)	L348Q	probably damaging	Het
Sorbs1	T	C	19: 40,332,855 (GRCm39)	D521G	possibly damaging	Het
Sorbs2	A	T	8: 46,248,767 (GRCm39)	T593S	probably benign	Het
Srp19	T	C	18: 34,467,629 (GRCm39)		probably benign	Het
Stk35	T	A	2: 129,643,683 (GRCm39)	Y222*	probably null	Het
Syt10	T	G	15: 89,711,191 (GRCm39)	K114T	probably benign	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Trpc4ap	A	G	2: 155,478,180 (GRCm39)	V662A	probably benign	Het
Ttll4	G	A	1: 74,735,916 (GRCm39)	R1066Q	probably benign	Het
Tulp2	C	T	7: 45,168,000 (GRCm39)		probably benign	Het
Unc5b	C	A	10: 60,615,437 (GRCm39)		probably benign	Het
Vmn1r230	T	A	17: 21,066,895 (GRCm39)	I28K	possibly damaging	Het
Vmn2r118	A	C	17: 55,915,616 (GRCm39)	F445V	possibly damaging	Het
Zfp142	C	T	1: 74,609,341 (GRCm39)	E1485K	probably damaging	Het
Zfp819	C	A	7: 43,266,621 (GRCm39)	A292E	possibly 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
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
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

2013-05-09