Mutagenetix > Incidental Mutation

Incidental Mutation 'R1961:Serpinf1'

317951

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

039975-MU

Accession Numbers

Essential gene?

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

Stock #

R1961 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75300855-75313449 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 75307245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 31 (V31I)

Ref Sequence

ENSEMBL: ENSMUSP00000114761 (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: V31I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000000769
Gene: ENSMUSG00000000753
AA Change: V31I

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
AA Change: V31I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126807
Gene: ENSMUSG00000000753
AA Change: V31I

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
AA Change: V31I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000114761
Gene: ENSMUSG00000000753
AA Change: V31I

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: V31I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000121180
Gene: ENSMUSG00000000753
AA Change: V31I

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
AA Change: V31I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000131531
Gene: ENSMUSG00000000753
AA Change: V31I

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: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

99% (93/94)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	T	C	16: 14,214,257 (GRCm39)	Y191H	probably damaging	Het
Abcc4	C	A	14: 118,848,871 (GRCm39)	V494L	possibly damaging	Het
Abcc4	C	A	14: 118,848,868 (GRCm39)	G495C	probably damaging	Het
Acsm4	T	C	7: 119,307,963 (GRCm39)	Y367H	probably benign	Het
Adam21	A	T	12: 81,606,282 (GRCm39)	Y493*	probably null	Het
Add2	T	C	6: 86,073,738 (GRCm39)	F209S	probably damaging	Het
Adgre4	T	C	17: 56,098,497 (GRCm39)	S136P	probably benign	Het
Aff4	T	G	11: 53,263,826 (GRCm39)	L282R	probably damaging	Het
Akt3	A	G	1: 176,924,561 (GRCm39)	I178T	probably damaging	Het
Ap3m1	T	C	14: 21,091,083 (GRCm39)	Y174C	probably damaging	Het
Arb2a	C	A	13: 78,050,839 (GRCm39)	H50N	probably benign	Het
Atl1	A	G	12: 70,000,274 (GRCm39)	E308G	probably benign	Het
Atp8b5	T	G	4: 43,369,688 (GRCm39)	V942G	probably damaging	Het
B3gntl1	A	G	11: 121,535,351 (GRCm39)		probably null	Het
Btrc	T	G	19: 45,515,782 (GRCm39)	I480S	probably damaging	Het
Cacna1c	A	T	6: 118,607,283 (GRCm39)	I1366N	probably benign	Het
Ccdc113	T	A	8: 96,267,459 (GRCm39)	N141K	probably benign	Het
Ccdc167	T	C	17: 29,923,405 (GRCm39)	N77D	possibly damaging	Het
Ccser1	T	C	6: 61,290,630 (GRCm39)		probably benign	Het
Cenpe	A	G	3: 134,948,254 (GRCm39)	E1230G	probably damaging	Het
Clec12a	A	C	6: 129,327,444 (GRCm39)	T21P	possibly damaging	Het
Cyp26c1	T	A	19: 37,675,825 (GRCm39)	F230I	probably damaging	Het
Exog	A	G	9: 119,281,332 (GRCm39)	E190G	possibly damaging	Het
Fam162b	A	G	10: 51,466,430 (GRCm39)	W30R	probably benign	Het
Fndc3b	G	A	3: 27,510,600 (GRCm39)	Q841*	probably null	Het
Frzb	T	A	2: 80,254,945 (GRCm39)	Y197F	probably benign	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Gabrb1	G	A	5: 71,857,679 (GRCm39)	R43Q	probably benign	Het
Gm21060	A	T	19: 61,285,445 (GRCm39)	H21Q	possibly damaging	Het
Gm4825	A	G	15: 85,395,245 (GRCm39)		noncoding transcript	Het
Gm5581	A	C	6: 131,145,125 (GRCm39)		noncoding transcript	Het
Gm9894	T	C	13: 67,912,034 (GRCm39)		noncoding transcript	Het
Gpr15	T	A	16: 58,538,370 (GRCm39)	I240L	probably benign	Het
Gria4	A	T	9: 4,519,546 (GRCm39)		probably benign	Het
Grid2	T	C	6: 63,885,877 (GRCm39)	L91S	probably damaging	Het
Igsf5	A	C	16: 96,179,551 (GRCm39)	T215P	probably damaging	Het
Kif13a	G	A	13: 47,018,314 (GRCm39)		probably benign	Het
Kif21a	G	A	15: 90,855,051 (GRCm39)	A703V	probably damaging	Het
Kif27	T	G	13: 58,440,937 (GRCm39)	R1159S	probably benign	Het
Kifc2	T	A	15: 76,547,025 (GRCm39)	L226H	probably damaging	Het
Klf10	T	C	15: 38,296,240 (GRCm39)	H435R	probably damaging	Het
Masp1	T	C	16: 23,271,682 (GRCm39)	Y623C	probably damaging	Het
Megf10	T	A	18: 57,345,426 (GRCm39)	C118S	probably damaging	Het
Mical3	A	G	6: 120,959,568 (GRCm39)	V909A	possibly damaging	Het
Mmrn2	A	G	14: 34,120,432 (GRCm39)		probably null	Het
Mpeg1	G	A	19: 12,440,275 (GRCm39)	V578M	probably damaging	Het
Nlrp2	T	C	7: 5,330,737 (GRCm39)	E553G	probably damaging	Het
Nmi	A	T	2: 51,838,632 (GRCm39)	S301T	probably benign	Het
Nr2f2	G	T	7: 70,007,903 (GRCm39)	T193K	possibly damaging	Het
Ntng2	T	C	2: 29,087,110 (GRCm39)	N404S	probably damaging	Het
Nup50l	A	G	6: 96,142,250 (GRCm39)	S265P	possibly damaging	Het
Oplah	G	A	15: 76,181,664 (GRCm39)	T1119I	probably damaging	Het
Or1x2	T	G	11: 50,918,302 (GRCm39)	S158A	probably benign	Het
Or52e3	T	C	7: 102,869,204 (GRCm39)	V93A	probably benign	Het
Otoa	T	A	7: 120,717,792 (GRCm39)	D336E	probably benign	Het
Pde4b	A	G	4: 102,454,657 (GRCm39)	E108G	probably damaging	Het
Pdgfrb	G	A	18: 61,194,577 (GRCm39)	R118H	possibly damaging	Het
Phactr4	G	A	4: 132,104,559 (GRCm39)	T256I	probably benign	Het
Pla2g3	C	T	11: 3,440,983 (GRCm39)	T316I	probably benign	Het
Plekhg4	A	G	8: 106,108,096 (GRCm39)	E982G	probably damaging	Het
Pmfbp1	T	G	8: 110,256,776 (GRCm39)		probably benign	Het
Pot1b	A	T	17: 55,969,531 (GRCm39)	Y546N	probably damaging	Het
Pphln1-ps1	T	A	16: 13,495,592 (GRCm39)	H230Q	probably benign	Het
Rab11fip5	C	A	6: 85,325,973 (GRCm39)	Q144H	possibly damaging	Het
Reep3	A	T	10: 66,875,278 (GRCm39)		probably null	Het
Rgl2	T	C	17: 34,152,589 (GRCm39)	L400P	probably damaging	Het
Rnf122	A	G	8: 31,614,874 (GRCm39)		probably benign	Het
Scgb1b21	G	T	7: 33,226,803 (GRCm39)		noncoding transcript	Het
Sec63	A	T	10: 42,699,882 (GRCm39)	K647N	probably damaging	Het
Sema4a	C	T	3: 88,345,483 (GRCm39)		probably benign	Het
Sez6l	C	T	5: 112,572,481 (GRCm39)		probably benign	Het
Shank3	T	C	15: 89,442,167 (GRCm39)	S1612P	possibly damaging	Het
Slc19a3	G	A	1: 83,000,519 (GRCm39)	T166M	probably benign	Het
Slc22a29	C	A	19: 8,146,557 (GRCm39)	R415M	probably benign	Het
Slc38a11	A	T	2: 65,160,683 (GRCm39)	F304I	possibly damaging	Het
Slitrk1	T	A	14: 109,149,622 (GRCm39)	N363I	probably damaging	Het
Slx4ip	A	G	2: 136,909,601 (GRCm39)	T129A	probably benign	Het
Spop	T	C	11: 95,382,537 (GRCm39)	V332A	possibly damaging	Het
Sptlc1	A	C	13: 53,512,916 (GRCm39)	D147E	probably benign	Het
Tnpo1	T	C	13: 98,989,440 (GRCm39)	Y754C	probably damaging	Het
Tox	C	A	4: 6,688,886 (GRCm39)	V493L	probably damaging	Het
Ttbk1	A	C	17: 46,791,150 (GRCm39)	F45V	probably damaging	Het
Ttc27	T	A	17: 75,087,851 (GRCm39)	M472K	probably damaging	Het
Ttll7	A	G	3: 146,621,550 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,552,104 (GRCm39)	C22851S	probably benign	Het
Ttn	T	A	2: 76,628,556 (GRCm39)	M14535L	possibly damaging	Het
Txlna	T	C	4: 129,534,055 (GRCm39)	T54A	probably benign	Het
Usp33	T	C	3: 152,086,265 (GRCm39)	V668A	probably damaging	Het
Vmn2r28	C	A	7: 5,484,070 (GRCm39)	C710F	possibly damaging	Het
Vmn2r8	T	A	5: 108,945,961 (GRCm39)	M549L	probably benign	Het
Vwa5b2	T	C	16: 20,420,941 (GRCm39)		probably null	Het
Wnk1	T	C	6: 119,946,208 (GRCm39)	I648M	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
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
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'- TGCAGCCTTCTTCAGTTGACAC -3'
(R):5'- GCAAGCCCTTTTGTGTTGCC -3'

Sequencing Primer
(F):5'- TTCAGTTGACACTCACCCAG -3'
(R):5'- GTGTTGCCCTTCCCACTC -3'

Posted On

2015-05-19