Mutagenetix > Incidental Mutation

Incidental Mutation 'R7031:Serpinf1'

546337

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

045132-MU

Accession Numbers

Essential gene?

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

Stock #

R7031 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75300855-75313449 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75301022 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 398 (R398G)

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: R398G

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

SMART Domains

Protein: ENSMUSP00000000769
Gene: ENSMUSG00000000753
AA Change: R398G

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: ENSMUST00000044530

SMART Domains

Protein: ENSMUSP00000047505
Gene: ENSMUSG00000018809

Domain	Start	End	E-Value	Type
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

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

SMART Domains

Protein: ENSMUSP00000121180
Gene: ENSMUSG00000000753

Domain	Start	End	E-Value	Type
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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,833,058 (GRCm39)	N39S	probably benign	Het
Abca13	C	T	11: 9,571,892 (GRCm39)	R4818C	probably damaging	Het
Acadsb	A	G	7: 131,045,366 (GRCm39)	I433V	probably benign	Het
Acsl3	T	A	1: 78,666,000 (GRCm39)	I142N	probably benign	Het
Api5	G	A	2: 94,255,961 (GRCm39)	T242M	probably benign	Het
Brme1	C	A	8: 84,893,313 (GRCm39)	P160Q	possibly damaging	Het
Ccdc88c	T	C	12: 100,911,323 (GRCm39)	E37G	probably damaging	Het
Cfap96	T	C	8: 46,421,140 (GRCm39)	I128V	probably benign	Het
Cntnap4	C	A	8: 113,584,874 (GRCm39)	Q1104K	probably benign	Het
Cry1	A	G	10: 84,984,526 (GRCm39)	S183P	probably benign	Het
Cuzd1	A	T	7: 130,910,580 (GRCm39)	F572I	probably benign	Het
Dcbld1	A	T	10: 52,166,985 (GRCm39)	D104V	probably damaging	Het
Dhh	C	T	15: 98,791,907 (GRCm39)	G367E	possibly damaging	Het
Dhx15	T	C	5: 52,341,931 (GRCm39)	D129G	probably benign	Het
Drd3	T	A	16: 43,582,861 (GRCm39)	V86E	probably damaging	Het
Ebf1	A	G	11: 44,512,795 (GRCm39)	T135A	possibly damaging	Het
Epha5	T	C	5: 84,290,159 (GRCm39)	I428V	probably benign	Het
Epx	T	A	11: 87,766,349 (GRCm39)		probably benign	Het
Fam83d	T	A	2: 158,627,227 (GRCm39)	N305K	probably benign	Het
Gchfr	T	A	2: 119,000,236 (GRCm39)	V39D	probably benign	Het
Ggnbp2	A	G	11: 84,751,467 (GRCm39)	L111P	probably damaging	Het
Gnal	G	A	18: 67,355,659 (GRCm39)	G340D	probably damaging	Het
Gpat2	A	G	2: 127,277,395 (GRCm39)	E745G	probably damaging	Het
Gpbp1l1	C	T	4: 116,450,045 (GRCm39)	R438C	probably damaging	Het
Hmgxb4	C	T	8: 75,756,200 (GRCm39)	Q171*	probably null	Het
Igkv4-91	G	T	6: 68,745,542 (GRCm39)	R119S	possibly damaging	Het
Ing2	T	C	8: 48,121,858 (GRCm39)	D230G	probably benign	Het
Itfg2	A	G	6: 128,393,017 (GRCm39)	V82A	probably damaging	Het
Klhl22	T	C	16: 17,594,890 (GRCm39)	S340P	probably damaging	Het
Lipm	A	T	19: 34,093,871 (GRCm39)	M263L	probably benign	Het
Ly96	A	T	1: 16,758,787 (GRCm39)	E19V	possibly damaging	Het
Mark1	C	T	1: 184,644,829 (GRCm39)	E376K	possibly damaging	Het
Mlip	T	A	9: 77,045,835 (GRCm39)	M375L	probably benign	Het
Mug1	A	T	6: 121,815,673 (GRCm39)	N26Y	probably benign	Het
Or2ad1	C	T	13: 21,327,170 (GRCm39)	S19N	probably benign	Het
Or55b3	T	A	7: 102,127,057 (GRCm39)	T7S	probably benign	Het
Or5m3	C	T	2: 85,838,939 (GRCm39)	A273V	probably benign	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Rb1cc1	T	C	1: 6,308,690 (GRCm39)		probably null	Het
Rgs4	T	C	1: 169,571,336 (GRCm39)	T178A	probably benign	Het
Sel1l2	T	A	2: 140,182,043 (GRCm39)	K31N	possibly damaging	Het
Sgo2b	C	T	8: 64,393,078 (GRCm39)	E120K	possibly damaging	Het
Stard9	T	C	2: 120,530,931 (GRCm39)	F2396S	possibly damaging	Het
Trgv6	G	A	13: 19,374,610 (GRCm39)	E25K	probably benign	Het
Trpc3	A	C	3: 36,675,459 (GRCm39)	I893S	probably benign	Het
Trpc4ap	C	A	2: 155,534,135 (GRCm39)	R31L	unknown	Het
Vat1l	A	G	8: 114,998,172 (GRCm39)	R239G	possibly damaging	Het
Vmn1r56	T	A	7: 5,199,261 (GRCm39)	R119*	probably null	Het
Vmn2r111	T	C	17: 22,790,226 (GRCm39)	Y260C	probably damaging	Het
Zfp664	A	G	5: 124,963,070 (GRCm39)	T155A	probably benign	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
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
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'- CCAGTTTCTCTCCATATGAAACAGC -3'
(R):5'- AGTCGTTGTTTGAATCACCCG -3'

Sequencing Primer
(F):5'- TGAAACAGCTTCAAACAGGAGAAG -3'
(R):5'- CCGACTTCAGCAAGATTACTGG -3'

Posted On

2019-05-13