Mutagenetix > Incidental Mutation

Incidental Mutation 'R2140:Fbn1'

236110

Institutional Source

Beutler Lab

Gene Symbol

Fbn1

Ensembl Gene

ENSMUSG00000027204

Gene Name

fibrillin 1

Synonyms

Fib-1

MMRRC Submission

040143-MU

Accession Numbers

Genbank: NM_007993; MGI: 95489

Essential gene?

Probably essential (E-score: 0.931) question?

Stock #

R2140 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125300594-125507993 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 125343810 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 1648 (C1648F)

Ref Sequence

ENSEMBL: ENSMUSP00000099524 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028633] [ENSMUST00000103234]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000028633
AA Change: C1648F

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

SMART Domains

Protein: ENSMUSP00000028633
Gene: ENSMUSG00000027204
AA Change: C1648F

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	38	49	N/A	INTRINSIC
EGF	118	146	8.52e0	SMART
EGF	149	178	5.4e-2	SMART
Pfam:TB	193	235	6.9e-17	PFAM
EGF_CA	246	287	3.56e-11	SMART
EGF_CA	288	329	9.39e-11	SMART
Pfam:TB	343	388	2.3e-17	PFAM
low complexity region	394	445	N/A	INTRINSIC
EGF	454	491	8.57e-5	SMART
EGF_CA	492	531	9.39e-11	SMART
EGF_CA	532	573	2.38e-12	SMART
EGF_CA	574	614	5.48e-12	SMART
EGF_CA	615	655	5.39e-11	SMART
Pfam:TB	670	712	1.4e-17	PFAM
EGF_CA	725	766	1.53e-10	SMART
EGF_CA	767	808	2.42e-13	SMART
EGF_CA	809	848	2.44e-9	SMART
Pfam:TB	862	902	2.1e-14	PFAM
EGF_CA	912	953	3.32e-11	SMART
Pfam:TB	967	1009	3.9e-17	PFAM
EGF_CA	1030	1071	5.11e-12	SMART
EGF_CA	1072	1114	5.39e-11	SMART
EGF_CA	1115	1156	1.55e-11	SMART
EGF_CA	1157	1198	5.48e-12	SMART
EGF_CA	1199	1239	5.61e-9	SMART
EGF_CA	1240	1281	1.22e-9	SMART
EGF_CA	1282	1323	2.62e-9	SMART
EGF_CA	1324	1364	3.27e-10	SMART
EGF_CA	1365	1405	4.7e-11	SMART
EGF_CA	1406	1447	1.91e-11	SMART
EGF_CA	1448	1488	1.98e-9	SMART
EGF_CA	1489	1529	2.13e-9	SMART
Pfam:TB	1549	1590	3.5e-18	PFAM
EGF_CA	1608	1649	2.19e-11	SMART
EGF_CA	1650	1690	3.97e-9	SMART
Pfam:TB	1706	1749	9.7e-18	PFAM
EGF_CA	1768	1809	5.11e-12	SMART
EGF_CA	1810	1850	1.1e-11	SMART
EGF_CA	1851	1892	5.69e-10	SMART
EGF_CA	1893	1931	6.1e-10	SMART
EGF_CA	1932	1974	2.11e-13	SMART
EGF_CA	1975	2014	7.23e-12	SMART
EGF_CA	2015	2056	3.15e-12	SMART
Pfam:TB	2070	2112	3.7e-17	PFAM
EGF_CA	2129	2167	1.24e-10	SMART
EGF_CA	2168	2207	3.81e-11	SMART
EGF_CA	2208	2248	3.81e-11	SMART
EGF	2252	2292	5.24e0	SMART
EGF_CA	2293	2334	9.91e-10	SMART
Pfam:TB	2348	2391	8.5e-18	PFAM
EGF_CA	2404	2445	1.26e-11	SMART
EGF_CA	2446	2486	1.06e-9	SMART
EGF_CA	2487	2525	3.1e-11	SMART
EGF_CA	2526	2568	1.48e-8	SMART
EGF_CA	2569	2608	1.14e-9	SMART
EGF_CA	2609	2649	3.97e-9	SMART
EGF_CA	2650	2689	1.98e-9	SMART
low complexity region	2691	2698	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000103234
AA Change: C1648F

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

SMART Domains

Protein: ENSMUSP00000099524
Gene: ENSMUSG00000027204
AA Change: C1648F

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	38	49	N/A	INTRINSIC
EGF	118	146	8.52e0	SMART
EGF	149	178	5.4e-2	SMART
Pfam:TB	194	232	3.5e-10	PFAM
EGF_CA	246	287	3.56e-11	SMART
EGF_CA	288	329	9.39e-11	SMART
Pfam:TB	344	388	6.8e-15	PFAM
low complexity region	394	445	N/A	INTRINSIC
EGF	454	491	8.57e-5	SMART
EGF_CA	492	531	9.39e-11	SMART
EGF_CA	532	573	2.38e-12	SMART
EGF_CA	574	614	5.48e-12	SMART
EGF_CA	615	655	5.39e-11	SMART
Pfam:TB	671	712	8.3e-16	PFAM
EGF_CA	725	766	1.53e-10	SMART
EGF_CA	767	808	2.42e-13	SMART
EGF_CA	809	848	2.44e-9	SMART
Pfam:TB	863	898	3.1e-8	PFAM
EGF_CA	912	953	3.32e-11	SMART
Pfam:TB	968	1009	1.5e-15	PFAM
EGF_CA	1030	1071	5.11e-12	SMART
EGF_CA	1072	1114	5.39e-11	SMART
EGF_CA	1115	1156	1.55e-11	SMART
EGF_CA	1157	1198	5.48e-12	SMART
EGF_CA	1199	1239	5.61e-9	SMART
EGF_CA	1240	1281	1.22e-9	SMART
EGF_CA	1282	1323	2.62e-9	SMART
EGF_CA	1324	1364	3.27e-10	SMART
EGF_CA	1365	1405	4.7e-11	SMART
EGF_CA	1406	1447	1.91e-11	SMART
EGF_CA	1448	1488	1.98e-9	SMART
EGF_CA	1489	1529	2.13e-9	SMART
Pfam:TB	1550	1590	5.3e-17	PFAM
EGF_CA	1608	1649	2.19e-11	SMART
EGF_CA	1650	1690	3.97e-9	SMART
Pfam:TB	1707	1749	1.6e-16	PFAM
EGF_CA	1768	1809	5.11e-12	SMART
EGF_CA	1810	1850	1.1e-11	SMART
EGF_CA	1851	1892	5.69e-10	SMART
EGF_CA	1893	1931	6.1e-10	SMART
EGF_CA	1932	1974	2.11e-13	SMART
EGF_CA	1975	2014	7.23e-12	SMART
EGF_CA	2015	2056	3.15e-12	SMART
Pfam:TB	2071	2112	1.9e-15	PFAM
EGF_CA	2129	2167	1.24e-10	SMART
EGF_CA	2168	2207	3.81e-11	SMART
EGF_CA	2208	2248	3.81e-11	SMART
EGF	2252	2292	5.24e0	SMART
EGF_CA	2293	2334	9.91e-10	SMART
Pfam:TB	2349	2391	5.8e-15	PFAM
EGF_CA	2404	2445	1.26e-11	SMART
EGF_CA	2446	2486	1.06e-9	SMART
EGF_CA	2487	2525	3.1e-11	SMART
EGF_CA	2526	2568	1.48e-8	SMART
EGF_CA	2569	2608	1.14e-9	SMART
EGF_CA	2609	2649	3.97e-9	SMART
EGF_CA	2650	2689	1.98e-9	SMART
low complexity region	2691	2698	N/A	INTRINSIC

Meta Mutation Damage Score

0.9601

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (96/96)

MGI Phenotype

Strain: 1934905; 4880665
Lethality: D7-D10
FUNCTION: This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Homozygous knockout mice for this gene exhibit impaired aortic development and early postnatal death, which was attributed to a deficiency in the fibrillin-1 protein. Mice with a hypomorphic allele of this gene exhibit impaired glucose homeostasis, likely due to a reduction in serum asprosin levels. [provided by RefSeq, Apr 2016]
PHENOTYPE: Lethality among homozygotes for spontaneous and targeted mutations ranges from embryonic death to death around 4 months. Abnormalities include vascular defects, excess bone growth, connective tissue hyperplasia, and lung emphysema. Mice heterozygous for a knock-in allele exhibit scleroderma. [provided by MGI curators]

Allele List at MGI

All alleles(10) : Targeted(9) Spontaneous(1)

Other mutations in this stock

Total: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	T	C	14: 4,348,902	I21T	probably damaging	Het
9230110C19Rik	T	C	9: 8,022,477	D248G	probably damaging	Het
Adgrf1	A	C	17: 43,300,802	E186D	probably damaging	Het
Adgrf4	C	T	17: 42,666,898	R518Q	possibly damaging	Het
Afdn	A	G	17: 13,810,433	E202G	probably damaging	Het
Agfg2	T	A	5: 137,667,116	R126W	probably damaging	Het
Alkbh2	C	T	5: 114,125,716	V77I	probably benign	Het
Alppl2	A	G	1: 87,087,697	S381P	probably benign	Het
Aqp2	A	G	15: 99,579,366	T72A	probably damaging	Het
Atp9b	A	G	18: 80,736,087	C1123R	probably damaging	Het
AU016765	T	A	17: 64,520,000		noncoding transcript	Het
Bscl2	T	C	19: 8,845,320		probably null	Het
Ccdc80	A	T	16: 45,127,446	Y929F	probably damaging	Het
Cenpj	T	C	14: 56,526,932	D1341G	probably damaging	Het
Cir1	A	T	2: 73,312,437	S18T	probably damaging	Het
Clcn6	A	G	4: 148,024,137	F145S	possibly damaging	Het
Cnksr1	A	G	4: 134,229,628	Y488H	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,122,806		probably null	Het
Crb1	T	C	1: 139,237,012	I1125V	probably benign	Het
Cyp3a13	A	T	5: 137,921,454	V20D	possibly damaging	Het
Dars	T	A	1: 128,372,162	M362L	probably benign	Het
Dck	T	C	5: 88,772,723	C101R	probably damaging	Het
Dnah11	T	C	12: 118,008,810	T2880A	probably benign	Het
Dnah7b	T	A	1: 46,268,670	M3048K	probably damaging	Het
Eef1a2	C	T	2: 181,148,742	E374K	probably benign	Het
Eif3a	A	T	19: 60,775,394		probably benign	Het
Esco1	A	G	18: 10,574,873		probably null	Het
Exoc8	C	T	8: 124,897,415	R71Q	possibly damaging	Het
Fam208a	C	T	14: 27,480,035	T1462I	probably damaging	Het
Far1	G	A	7: 113,566,460	V445M	possibly damaging	Het
Fmn1	A	G	2: 113,595,048	K1189R	probably benign	Het
Foxl2	C	A	9: 98,956,487	P276H	unknown	Het
Fpr3	T	A	17: 17,970,617	V50E	probably damaging	Het
Garem1	T	A	18: 21,129,374	R794S	probably damaging	Het
Gemin4	G	C	11: 76,211,050	P962A	probably damaging	Het
Glyatl3	T	C	17: 40,911,084	D93G	probably benign	Het
Gm14124	A	T	2: 150,269,361	H657L	probably benign	Het
Gm4787	A	G	12: 81,378,562	I274T	probably benign	Het
Gucy1a1	C	T	3: 82,118,886		probably null	Het
Hook1	GATGAATGA	GATGA	4: 96,013,312	503	probably null	Het
Ift20	G	A	11: 78,540,034	E68K	probably damaging	Het
Ints13	A	G	6: 146,576,431	S7P	probably damaging	Het
Kat5	T	A	19: 5,605,685		probably null	Het
Kcnma1	A	C	14: 23,314,220	L988R	probably damaging	Het
Kcnq3	C	A	15: 66,005,978		probably benign	Het
Kctd16	A	G	18: 40,259,178	E273G	possibly damaging	Het
Krt82	T	A	15: 101,545,156	Q265L	probably damaging	Het
Lama2	A	T	10: 27,054,694		probably null	Het
Laptm4b	G	T	15: 34,238,332	M3I	probably benign	Het
Lmtk2	A	G	5: 144,147,615	Y156C	probably damaging	Het
Lrrc58	G	A	16: 37,881,409	E350K	probably damaging	Het
Lrrk1	A	T	7: 66,330,750	D227E	probably damaging	Het
Macf1	C	T	4: 123,355,102	C7210Y	probably damaging	Het
Madd	A	G	2: 91,152,509	I1363T	possibly damaging	Het
Mcm3	A	G	1: 20,813,110	V295A	probably benign	Het
Mki67	A	G	7: 135,695,592	I2571T	possibly damaging	Het
Mtrr	C	T	13: 68,568,940	A385T	possibly damaging	Het
Myh7b	A	G	2: 155,620,123	Y313C	probably damaging	Het
Myot	A	T	18: 44,354,125	H343L	possibly damaging	Het
Myt1	C	A	2: 181,825,979	Q1069K	probably damaging	Het
Nid1	T	A	13: 13,499,668	D877E	probably damaging	Het
Nle1	A	G	11: 82,905,568	V159A	probably damaging	Het
Nmbr	C	A	10: 14,770,442	Y353*	probably null	Het
Nos1ap	T	A	1: 170,329,166	D241V	probably damaging	Het
Nostrin	A	C	2: 69,166,003	Y209S	probably damaging	Het
Olfr1099	A	T	2: 86,959,281	M59K	probably damaging	Het
Olfr115	T	G	17: 37,610,471	E93D	probably benign	Het
Olfr1168	A	T	2: 88,185,095	S73C	probably benign	Het
Olfr1240	C	T	2: 89,439,583	R232H	probably benign	Het
Olfr283	G	A	15: 98,378,396	T238I	possibly damaging	Het
Olfr378	A	T	11: 73,425,881	M34K	probably damaging	Het
Pcdh7	T	A	5: 58,128,996	V1138E	probably damaging	Het
Pglyrp3	T	G	3: 92,026,567	V173G	probably benign	Het
Plec	T	C	15: 76,183,174	T1331A	probably benign	Het
Plxnb2	T	C	15: 89,156,562	D1787G	probably benign	Het
Pms1	T	A	1: 53,281,988	I29F	probably damaging	Het
Ptprt	G	A	2: 161,811,988	T574I	probably damaging	Het
R3hdm1	A	G	1: 128,190,693	Y561C	probably damaging	Het
Rab17	A	G	1: 90,960,078	F120S	probably benign	Het
Rab7b	T	A	1: 131,698,419	W62R	probably damaging	Het
Ryr2	C	T	13: 11,560,607	G4835E	probably damaging	Het
Ryr3	A	G	2: 112,875,148	V807A	probably benign	Het
Sept4	A	T	11: 87,583,436	Q60L	probably benign	Het
Slc23a1	C	T	18: 35,626,434	R26Q	unknown	Het
Slc7a4	C	A	16: 17,574,544	R342L	possibly damaging	Het
Slfn9	C	T	11: 82,984,655	C367Y	possibly damaging	Het
Slitrk6	T	G	14: 110,750,794	T494P	probably benign	Het
Tiam1	A	G	16: 89,849,645		probably benign	Het
Tiparp	C	A	3: 65,529,252		probably benign	Het
Tmem39b	T	C	4: 129,678,688	T374A	probably benign	Het
Trim5	G	A	7: 104,276,791	R188*	probably null	Het
Ttn	C	T	2: 76,813,339	G11436R	probably damaging	Het
Ubr4	C	T	4: 139,477,207	T4810M	probably damaging	Het
Vmn2r26	A	T	6: 124,061,237	E590D	probably benign	Het
Wwc1	A	G	11: 35,870,528	F650S	probably benign	Het
Xrcc6	T	A	15: 82,022,977	F167I	probably damaging	Het

Other mutations in Fbn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Fbn1	APN	2	125324947	missense	probably damaging	1.00
IGL00159:Fbn1	APN	2	125397873	missense	probably benign	0.14
IGL00500:Fbn1	APN	2	125317516	missense	probably damaging	0.99
IGL00558:Fbn1	APN	2	125329128	splice site	probably benign
IGL00645:Fbn1	APN	2	125317103	splice site	probably benign
IGL00863:Fbn1	APN	2	125403219	missense	possibly damaging	0.84
IGL00926:Fbn1	APN	2	125319042	missense	possibly damaging	0.84
IGL00935:Fbn1	APN	2	125377910	nonsense	probably null
IGL00950:Fbn1	APN	2	125358823	missense	probably damaging	1.00
IGL01090:Fbn1	APN	2	125394776	splice site	probably benign
IGL01106:Fbn1	APN	2	125351706	missense	possibly damaging	0.55
IGL01486:Fbn1	APN	2	125389978	missense	probably benign	0.03
IGL01519:Fbn1	APN	2	125317019	missense	probably benign	0.07
IGL01585:Fbn1	APN	2	125360110	missense	probably damaging	0.98
IGL01730:Fbn1	APN	2	125312974	splice site	probably benign
IGL01793:Fbn1	APN	2	125387293	missense	possibly damaging	0.67
IGL01803:Fbn1	APN	2	125350287	missense	probably damaging	1.00
IGL01803:Fbn1	APN	2	125301725	missense	probably benign
IGL01916:Fbn1	APN	2	125315446	missense	possibly damaging	0.55
IGL02035:Fbn1	APN	2	125335362	splice site	probably null
IGL02097:Fbn1	APN	2	125363969	missense	probably damaging	1.00
IGL02233:Fbn1	APN	2	125321610	splice site	probably benign
IGL02512:Fbn1	APN	2	125338460	missense	probably damaging	1.00
IGL02552:Fbn1	APN	2	125412713	missense	possibly damaging	0.86
IGL02657:Fbn1	APN	2	125352025	missense	possibly damaging	0.86
IGL02718:Fbn1	APN	2	125369886	missense	probably damaging	1.00
IGL02863:Fbn1	APN	2	125303256	missense	possibly damaging	0.80
IGL02974:Fbn1	APN	2	125346330	missense	probably null	0.99
IGL03058:Fbn1	APN	2	125403200	missense	probably benign	0.03
IGL03172:Fbn1	APN	2	125320968	missense	possibly damaging	0.92
IGL03288:Fbn1	APN	2	125303183	missense	probably benign	0.13
Carinatum	UTSW	2	125342830	missense	possibly damaging	0.70
Elasticity	UTSW	2	125403132	missense	possibly damaging	0.63
Excavatum	UTSW	2	125335487	missense	probably damaging	1.00
Exceedingly	UTSW	2	125344095	critical splice acceptor site	probably benign
Extensor	UTSW	2	125328158	missense	probably damaging	1.00
lincoln	UTSW	2	125403170	missense	possibly damaging	0.50
Long	UTSW	2	125317038	missense	probably damaging	1.00
Pectus	UTSW	2	125321691	missense	possibly damaging	0.82
Reach	UTSW	2	125382034	nonsense	probably null
reaper	UTSW	2	125315404	missense	probably damaging	0.98
Scythe	UTSW	2	125403228	missense	possibly damaging	0.84
String_bean	UTSW	2	125379134	splice site	probably null
wirey	UTSW	2	125309495	missense	probably benign
3-1:Fbn1	UTSW	2	125394605	splice site	probably benign
BB004:Fbn1	UTSW	2	125383736	missense	possibly damaging	0.82
BB014:Fbn1	UTSW	2	125383736	missense	possibly damaging	0.82
P0012:Fbn1	UTSW	2	125369321	splice site	probably benign
PIT4403001:Fbn1	UTSW	2	125342911	missense	probably damaging	1.00
PIT4466001:Fbn1	UTSW	2	125306501	missense	possibly damaging	0.90
PIT4472001:Fbn1	UTSW	2	125306501	missense	possibly damaging	0.90
PIT4651001:Fbn1	UTSW	2	125363989	critical splice acceptor site	probably null
R0226:Fbn1	UTSW	2	125320910	missense	possibly damaging	0.86
R0310:Fbn1	UTSW	2	125363644	missense	probably damaging	1.00
R0362:Fbn1	UTSW	2	125309777	missense	probably damaging	0.99
R0374:Fbn1	UTSW	2	125321676	missense	possibly damaging	0.86
R0433:Fbn1	UTSW	2	125348215	missense	possibly damaging	0.95
R0441:Fbn1	UTSW	2	125309755	critical splice donor site	probably null
R0501:Fbn1	UTSW	2	125301749	missense	probably benign	0.23
R0510:Fbn1	UTSW	2	125342925	splice site	probably benign
R0573:Fbn1	UTSW	2	125389249	missense	probably damaging	0.99
R0622:Fbn1	UTSW	2	125379024	missense	possibly damaging	0.88
R0630:Fbn1	UTSW	2	125394770	missense	possibly damaging	0.48
R0724:Fbn1	UTSW	2	125352064	missense	probably benign	0.14
R0739:Fbn1	UTSW	2	125367630	missense	probably benign	0.18
R0744:Fbn1	UTSW	2	125314814	splice site	probably benign
R0811:Fbn1	UTSW	2	125403170	missense	possibly damaging	0.50
R0812:Fbn1	UTSW	2	125403170	missense	possibly damaging	0.50
R0862:Fbn1	UTSW	2	125342891	nonsense	probably null
R0864:Fbn1	UTSW	2	125342891	nonsense	probably null
R1061:Fbn1	UTSW	2	125345963	missense	probably benign	0.01
R1126:Fbn1	UTSW	2	125321192	splice site	probably null
R1172:Fbn1	UTSW	2	125394687	missense	probably benign	0.13
R1175:Fbn1	UTSW	2	125394687	missense	probably benign	0.13
R1183:Fbn1	UTSW	2	125321617	missense	probably benign	0.07
R1218:Fbn1	UTSW	2	125412749	missense	possibly damaging	0.71
R1241:Fbn1	UTSW	2	125372527	splice site	probably benign
R1248:Fbn1	UTSW	2	125301609	missense	probably benign	0.01
R1345:Fbn1	UTSW	2	125314671	missense	probably damaging	1.00
R1374:Fbn1	UTSW	2	125346434	missense	probably damaging	0.99
R1458:Fbn1	UTSW	2	125301929	missense	probably benign	0.01
R1474:Fbn1	UTSW	2	125361265	missense	possibly damaging	0.72
R1496:Fbn1	UTSW	2	125309495	missense	probably benign
R1502:Fbn1	UTSW	2	125363706	nonsense	probably null
R1511:Fbn1	UTSW	2	125306285	missense	probably benign	0.00
R1588:Fbn1	UTSW	2	125319114	missense	probably benign	0.19
R1626:Fbn1	UTSW	2	125341279	missense	probably damaging	1.00
R1676:Fbn1	UTSW	2	125309781	missense	probably damaging	1.00
R1712:Fbn1	UTSW	2	125346434	missense	probably damaging	0.99
R1772:Fbn1	UTSW	2	125403228	missense	possibly damaging	0.84
R1776:Fbn1	UTSW	2	125321734	missense	possibly damaging	0.71
R1869:Fbn1	UTSW	2	125352027	missense	probably benign	0.00
R1894:Fbn1	UTSW	2	125394621	missense	probably damaging	0.96
R1925:Fbn1	UTSW	2	125363629	missense	probably damaging	1.00
R1957:Fbn1	UTSW	2	125367654	missense	possibly damaging	0.93
R1995:Fbn1	UTSW	2	125350373	critical splice acceptor site	probably null
R2142:Fbn1	UTSW	2	125412708	missense	possibly damaging	0.93
R2268:Fbn1	UTSW	2	125321741	missense	possibly damaging	0.49
R3409:Fbn1	UTSW	2	125412665	missense	possibly damaging	0.92
R3418:Fbn1	UTSW	2	125320926	missense	possibly damaging	0.55
R3508:Fbn1	UTSW	2	125306327	missense	probably benign	0.19
R3778:Fbn1	UTSW	2	125317086	missense	probably damaging	1.00
R3800:Fbn1	UTSW	2	125345974	missense	possibly damaging	0.63
R4001:Fbn1	UTSW	2	125477495	critical splice donor site	probably null
R4169:Fbn1	UTSW	2	125363952	missense	possibly damaging	0.86
R4398:Fbn1	UTSW	2	125397781	missense	probably benign	0.32
R4482:Fbn1	UTSW	2	125363610	critical splice donor site	probably null
R4559:Fbn1	UTSW	2	125351714	missense	possibly damaging	0.65
R4608:Fbn1	UTSW	2	125306500	missense	probably benign	0.05
R4634:Fbn1	UTSW	2	125344061	missense	probably damaging	1.00
R4706:Fbn1	UTSW	2	125370149	missense	probably benign	0.21
R4712:Fbn1	UTSW	2	125341316	missense	probably benign	0.12
R4783:Fbn1	UTSW	2	125324919	missense	probably damaging	1.00
R4784:Fbn1	UTSW	2	125324919	missense	probably damaging	1.00
R4785:Fbn1	UTSW	2	125324919	missense	probably damaging	1.00
R4793:Fbn1	UTSW	2	125321235	nonsense	probably null
R4838:Fbn1	UTSW	2	125372399	missense	probably benign	0.01
R4864:Fbn1	UTSW	2	125372397	missense	possibly damaging	0.92
R4887:Fbn1	UTSW	2	125309774	missense	probably damaging	1.00
R4942:Fbn1	UTSW	2	125383616	missense	possibly damaging	0.88
R4952:Fbn1	UTSW	2	125317534	missense	probably damaging	1.00
R5030:Fbn1	UTSW	2	125412704	missense	possibly damaging	0.51
R5044:Fbn1	UTSW	2	125329102	missense	probably damaging	0.97
R5057:Fbn1	UTSW	2	125466695	missense	probably benign	0.33
R5115:Fbn1	UTSW	2	125332383	missense	probably damaging	1.00
R5399:Fbn1	UTSW	2	125332333	missense	possibly damaging	0.69
R5498:Fbn1	UTSW	2	125360176	missense	probably damaging	1.00
R5526:Fbn1	UTSW	2	125365639	missense	possibly damaging	0.83
R5529:Fbn1	UTSW	2	125373950	missense	probably benign	0.01
R5602:Fbn1	UTSW	2	125321741	missense	possibly damaging	0.49
R5760:Fbn1	UTSW	2	125361247	missense	probably damaging	1.00
R5837:Fbn1	UTSW	2	125379134	splice site	probably null
R5955:Fbn1	UTSW	2	125358882	missense	probably damaging	1.00
R5980:Fbn1	UTSW	2	125315404	missense	probably damaging	0.98
R6039:Fbn1	UTSW	2	125363880	missense	probably damaging	1.00
R6039:Fbn1	UTSW	2	125363880	missense	probably damaging	1.00
R6058:Fbn1	UTSW	2	125466612	missense	possibly damaging	0.73
R6089:Fbn1	UTSW	2	125321225	missense	possibly damaging	0.55
R6136:Fbn1	UTSW	2	125403132	missense	possibly damaging	0.63
R6161:Fbn1	UTSW	2	125369801	nonsense	probably null
R6162:Fbn1	UTSW	2	125360227	missense	probably damaging	1.00
R6165:Fbn1	UTSW	2	125332363	missense	probably damaging	0.99
R6169:Fbn1	UTSW	2	125335489	critical splice acceptor site	probably null
R6221:Fbn1	UTSW	2	125320921	missense	probably benign	0.07
R6223:Fbn1	UTSW	2	125412671	missense	possibly damaging	0.86
R6225:Fbn1	UTSW	2	125330543	missense	probably damaging	1.00
R6238:Fbn1	UTSW	2	125324945	missense	probably damaging	0.98
R6329:Fbn1	UTSW	2	125308473	missense	possibly damaging	0.70
R6401:Fbn1	UTSW	2	125346450	missense	probably damaging	0.98
R6480:Fbn1	UTSW	2	125335418	missense	probably benign	0.05
R6513:Fbn1	UTSW	2	125383671	missense	probably damaging	1.00
R6530:Fbn1	UTSW	2	125389270	missense	probably damaging	0.99
R6595:Fbn1	UTSW	2	125342830	missense	possibly damaging	0.70
R6781:Fbn1	UTSW	2	125317038	missense	probably damaging	1.00
R6849:Fbn1	UTSW	2	125321691	missense	possibly damaging	0.82
R6860:Fbn1	UTSW	2	125328158	missense	probably damaging	1.00
R6960:Fbn1	UTSW	2	125382060	missense	probably benign	0.16
R7134:Fbn1	UTSW	2	125382049	missense	probably benign	0.03
R7241:Fbn1	UTSW	2	125306495	missense	possibly damaging	0.86
R7295:Fbn1	UTSW	2	125335487	missense	probably damaging	1.00
R7312:Fbn1	UTSW	2	125466674	missense	possibly damaging	0.53
R7322:Fbn1	UTSW	2	125479195	missense	possibly damaging	0.92
R7349:Fbn1	UTSW	2	125315401	missense	possibly damaging	0.84
R7365:Fbn1	UTSW	2	125352049	missense	probably damaging	0.97
R7392:Fbn1	UTSW	2	125343924	missense	probably damaging	1.00
R7442:Fbn1	UTSW	2	125403212	missense	possibly damaging	0.45
R7452:Fbn1	UTSW	2	125505455	missense	possibly damaging	0.53
R7453:Fbn1	UTSW	2	125320959	missense	possibly damaging	0.93
R7457:Fbn1	UTSW	2	125351747	missense	possibly damaging	0.90
R7458:Fbn1	UTSW	2	125319116	missense	probably benign	0.14
R7549:Fbn1	UTSW	2	125344027	missense	probably damaging	0.99
R7570:Fbn1	UTSW	2	125397852	missense	probably benign	0.29
R7666:Fbn1	UTSW	2	125306471	missense	probably damaging	1.00
R7723:Fbn1	UTSW	2	125382034	nonsense	probably null
R7745:Fbn1	UTSW	2	125303195	missense	probably benign	0.06
R7754:Fbn1	UTSW	2	125479280	splice site	probably null
R7780:Fbn1	UTSW	2	125301758	missense	probably benign	0.15
R7849:Fbn1	UTSW	2	125309485	missense	probably damaging	0.98
R7927:Fbn1	UTSW	2	125383736	missense	possibly damaging	0.82
R7942:Fbn1	UTSW	2	125412786	missense	possibly damaging	0.53
R7948:Fbn1	UTSW	2	125341299	missense	probably damaging	1.00
R7985:Fbn1	UTSW	2	125301878	missense	probably benign	0.01
R8051:Fbn1	UTSW	2	125306463	missense	possibly damaging	0.86
R8054:Fbn1	UTSW	2	125346018	missense	possibly damaging	0.93
R8058:Fbn1	UTSW	2	125351969	missense	possibly damaging	0.46
R8113:Fbn1	UTSW	2	125477569	missense	probably damaging	1.00
R8307:Fbn1	UTSW	2	125505482	missense	possibly damaging	0.53
R8472:Fbn1	UTSW	2	125309802	missense	probably damaging	1.00
R8690:Fbn1	UTSW	2	125344095	critical splice acceptor site	probably benign
R8724:Fbn1	UTSW	2	125360146	missense	probably damaging	0.98
R8856:Fbn1	UTSW	2	125314717	missense	probably damaging	1.00
R8916:Fbn1	UTSW	2	125403229	missense	possibly damaging	0.63
R8931:Fbn1	UTSW	2	125360175	missense	probably damaging	1.00
R8988:Fbn1	UTSW	2	125370806	missense	possibly damaging	0.88
R9127:Fbn1	UTSW	2	125382065	missense	possibly damaging	0.86
R9161:Fbn1	UTSW	2	125350350	missense	probably damaging	1.00
R9495:Fbn1	UTSW	2	125319064	missense	probably damaging	0.96
R9515:Fbn1	UTSW	2	125365631	missense	probably benign	0.03
R9557:Fbn1	UTSW	2	125338538	missense	probably damaging	0.99
R9597:Fbn1	UTSW	2	125345986	missense	probably benign
R9680:Fbn1	UTSW	2	125468564	missense	probably benign	0.29
R9723:Fbn1	UTSW	2	125360199	nonsense	probably null
R9734:Fbn1	UTSW	2	125389978	missense	probably benign	0.03
R9796:Fbn1	UTSW	2	125317021	missense	probably benign	0.19
X0019:Fbn1	UTSW	2	125383643	missense	possibly damaging	0.82
X0020:Fbn1	UTSW	2	125369340	missense	probably damaging	1.00
X0028:Fbn1	UTSW	2	125342798	critical splice donor site	probably null
X0067:Fbn1	UTSW	2	125369914	missense	possibly damaging	0.95
Z1088:Fbn1	UTSW	2	125350288	missense	probably damaging	0.99
Z1176:Fbn1	UTSW	2	125387350	missense	possibly damaging	0.51
Z1177:Fbn1	UTSW	2	125389231	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTGTACAGGTGACAAGCGG -3'
(R):5'- CACCTTTTGGATGCCCTCAG -3'

Sequencing Primer
(F):5'- GGAAACACCTAGAACTACCCTGG -3'
(R):5'- GGATGCCCTCAGTTTCATTCAAG -3'

Posted On

2014-10-01