Mutagenetix > Incidental Mutation

Incidental Mutation 'R5138:Serpinf1'

396303

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

042724-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

R5138 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75300855-75313449 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75305854 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 178 (E178G)

Ref Sequence

ENSEMBL: ENSMUSP00000114761 (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: E178G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000000769
Gene: ENSMUSG00000000753
AA Change: E178G

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 damaging
Transcript: ENSMUST00000137103
AA Change: E178G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114761
Gene: ENSMUSG00000000753
AA Change: E178G

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: E126G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121180
Gene: ENSMUSG00000000753
AA Change: E126G

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

unknown
Transcript: ENSMUST00000167281
AA Change: E84G

SMART Domains

Protein: ENSMUSP00000133230
Gene: ENSMUSG00000000753
AA Change: E84G

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

0.5723

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

97% (76/78)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	C	A	9: 46,218,119 (GRCm39)		probably null	Het
Actr10	G	A	12: 71,008,653 (GRCm39)	G362E	probably damaging	Het
Aldh1a3	T	C	7: 66,057,600 (GRCm39)	T278A	probably damaging	Het
Arpp21	T	A	9: 112,008,152 (GRCm39)	K116M	probably damaging	Het
Arrdc3	T	C	13: 81,039,184 (GRCm39)	Y72H	probably damaging	Het
Atr	T	C	9: 95,819,649 (GRCm39)	V2212A	probably benign	Het
Bcdin3d	A	G	15: 99,368,932 (GRCm39)	F89S	possibly damaging	Het
Cacna1d	C	A	14: 30,212,929 (GRCm39)	A44S	probably benign	Het
Cbx3	A	G	6: 51,452,269 (GRCm39)	E28G	probably damaging	Het
Cdh23	A	T	10: 60,148,061 (GRCm39)	F2722L	probably damaging	Het
Clec11a	A	G	7: 43,954,062 (GRCm39)	V297A	probably benign	Het
Clk2	C	A	3: 89,082,806 (GRCm39)		probably benign	Het
Clybl	T	A	14: 122,608,716 (GRCm39)	C103S	possibly damaging	Het
Col12a1	T	A	9: 79,551,248 (GRCm39)	N2123Y	probably damaging	Het
Corin	G	A	5: 72,496,402 (GRCm39)	P517L	probably damaging	Het
Ddhd2	A	T	8: 26,217,726 (GRCm39)	I717N	probably damaging	Het
Derl2	C	A	11: 70,905,390 (GRCm39)	G31*	probably null	Het
Dgcr8	A	G	16: 18,095,941 (GRCm39)	V523A	probably damaging	Het
Dnah8	T	C	17: 30,984,571 (GRCm39)	S3090P	probably damaging	Het
Dsp	C	A	13: 38,367,274 (GRCm39)	H641N	probably benign	Het
Dsp	A	T	13: 38,379,821 (GRCm39)	T1590S	possibly damaging	Het
Duox2	A	T	2: 122,128,012 (GRCm39)	L57Q	probably damaging	Het
Etfdh	A	T	3: 79,530,880 (GRCm39)	V47D	probably benign	Het
Exoc1	T	C	5: 76,715,922 (GRCm39)	Y823H	probably damaging	Het
Fam81a	C	T	9: 70,006,457 (GRCm39)	R185K	probably benign	Het
Fsip2	A	G	2: 82,811,768 (GRCm39)	I2696V	probably benign	Het
Glis1	GCACACA	GCACA	4: 107,480,302 (GRCm39)		probably null	Het
Gtf3c1	A	T	7: 125,246,664 (GRCm39)	N1548K	probably benign	Het
H3c2	G	A	13: 23,936,613 (GRCm39)	R84H	probably damaging	Het
Hkdc1	A	T	10: 62,234,470 (GRCm39)	I575N	probably damaging	Het
Ifi208	A	G	1: 173,518,239 (GRCm39)	I449V	probably null	Het
Ino80	T	C	2: 119,213,902 (GRCm39)	T1223A	probably damaging	Het
Kctd9	T	C	14: 67,966,197 (GRCm39)		probably null	Het
Khdrbs1	A	G	4: 129,635,647 (GRCm39)	Y103H	probably benign	Het
Kmt2e	A	G	5: 23,707,693 (GRCm39)	H1752R	probably damaging	Het
Lrp5	T	A	19: 3,678,319 (GRCm39)	Q512L	probably benign	Het
Map2k5	T	C	9: 63,170,440 (GRCm39)	T293A	probably damaging	Het
Myo7a	C	A	7: 97,732,806 (GRCm39)	R657L	probably damaging	Het
Myrfl	A	G	10: 116,631,963 (GRCm39)		probably null	Het
Nfatc2	G	A	2: 168,378,229 (GRCm39)	H258Y	probably damaging	Het
Nup205	T	A	6: 35,202,801 (GRCm39)	L1336Q	probably damaging	Het
Or10z1	A	G	1: 174,078,395 (GRCm39)	S33P	probably damaging	Het
Or4c113	T	C	2: 88,885,291 (GRCm39)	I160V	probably benign	Het
Or5an10	T	C	19: 12,276,140 (GRCm39)	M119V	possibly damaging	Het
Otog	T	A	7: 45,899,430 (GRCm39)	S244T	possibly damaging	Het
Pcdh17	T	G	14: 84,684,649 (GRCm39)	I372S	probably damaging	Het
Pira13	A	T	7: 3,827,556 (GRCm39)	Y200*	probably null	Het
Plagl1	A	G	10: 13,003,919 (GRCm39)		probably benign	Het
Pnpla7	T	C	2: 24,931,115 (GRCm39)	F910S	possibly damaging	Het
Prdm13	G	A	4: 21,679,507 (GRCm39)	P328S	unknown	Het
Prdm5	C	T	6: 65,833,086 (GRCm39)	Q152*	probably null	Het
Psat1	A	G	19: 15,892,312 (GRCm39)	F216S	possibly damaging	Het
Psg21	A	T	7: 18,390,453 (GRCm39)	M1K	probably null	Het
Rab11fip3	A	T	17: 26,210,000 (GRCm39)	S994T	probably benign	Het
Rax	A	G	18: 66,071,389 (GRCm39)		probably benign	Het
Rgs22	A	T	15: 36,099,934 (GRCm39)	S260R	probably benign	Het
Ryr2	A	T	13: 11,675,175 (GRCm39)	H3317Q	probably damaging	Het
Sc5d	A	G	9: 42,166,811 (GRCm39)	Y243H	probably damaging	Het
Slc15a3	A	T	19: 10,833,369 (GRCm39)	Y462F	probably damaging	Het
Slc9b1	G	A	3: 135,063,534 (GRCm39)		probably benign	Het
Slit2	C	T	5: 48,439,309 (GRCm39)	P1111S	probably damaging	Het
Slit3	T	C	11: 35,479,812 (GRCm39)	Y330H	probably damaging	Het
Snw1	T	C	12: 87,507,205 (GRCm39)	K204E	probably benign	Het
Steap1	A	G	5: 5,786,486 (GRCm39)	I317T	probably damaging	Het
Sval2	A	G	6: 41,838,879 (GRCm39)	N20S	probably damaging	Het
Tfrc	C	A	16: 32,434,027 (GRCm39)	Y85*	probably null	Het
Tmem87a	T	C	2: 120,202,026 (GRCm39)	T412A	possibly damaging	Het
Utp20	T	C	10: 88,583,239 (GRCm39)	K2705E	probably damaging	Het
Vmn1r230	A	T	17: 21,067,230 (GRCm39)	K140*	probably null	Het
Vmn2r62	A	T	7: 42,414,240 (GRCm39)	H734Q	possibly damaging	Het
Zbtb8os	T	A	4: 129,240,719 (GRCm39)		probably benign	Het
Zfp608	A	T	18: 55,024,871 (GRCm39)	H1466Q	probably damaging	Het
Zfp957	C	T	14: 79,450,362 (GRCm39)	C479Y	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
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
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'- ACTGTGGCCTTCAGATCTCC -3'
(R):5'- GGAATCCACTGTTCCCTAGC -3'

Sequencing Primer
(F):5'- TGGCCTGGTACCTGCATTCAG -3'
(R):5'- CCCCAGCAAGTCAAAGGAAGATG -3'

Posted On

2016-06-21