Mutagenetix > Incidental Mutation

Incidental Mutation 'R0510:Fbn1'

47778

Institutional Source

Beutler Lab

Gene Symbol

Fbn1

Ensembl Gene

ENSMUSG00000027204

Gene Name

fibrillin 1

Synonyms

Fib-1

MMRRC Submission

038704-MU

Accession Numbers

Genbank: NM_007993; MGI: 95489

Essential gene?

Probably essential (E-score: 0.916) question?

Stock #

R0510 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125300594-125507993 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 125342925 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099524 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000028633

SMART Domains

Protein: ENSMUSP00000028633
Gene: ENSMUSG00000027204

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 benign
Transcript: ENSMUST00000103234

SMART Domains

Protein: ENSMUSP00000099524
Gene: ENSMUSG00000027204

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.2%

Validation Efficiency

99% (102/103)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933408B17Rik	A	T	18: 34,596,151	D42E	probably damaging	Het
Abcg3	A	G	5: 104,977,616	I67T	probably damaging	Het
Acoxl	G	A	2: 127,880,503		probably null	Het
Adam10	T	A	9: 70,748,248	W333R	probably damaging	Het
Ahnak	C	T	19: 9,018,232	R5627*	probably null	Het
Alms1	A	T	6: 85,620,369	R1195*	probably null	Het
Ap2m1	T	A	16: 20,542,240	I334N	possibly damaging	Het
Camta1	C	A	4: 151,075,140	R1614L	probably damaging	Het
Ccdc110	T	A	8: 45,935,157	N50K	probably benign	Het
Cdhr1	T	C	14: 37,080,676	Y610C	probably damaging	Het
Cdkal1	C	A	13: 29,691,596		probably null	Het
Celsr3	G	A	9: 108,827,005	C229Y	possibly damaging	Het
Clca4b	A	T	3: 144,913,351	Y676N	probably damaging	Het
Col11a1	A	T	3: 114,105,456		probably benign	Het
Cpe	T	A	8: 64,611,467	I233F	probably damaging	Het
Cpsf1	A	T	15: 76,603,657		probably benign	Het
Cpsf2	T	C	12: 101,988,786	V272A	probably damaging	Het
Creld2	A	T	15: 88,819,956	N50I	probably damaging	Het
Cyb5r1	T	C	1: 134,409,692		probably benign	Het
Dcaf11	T	C	14: 55,569,080	V446A	probably damaging	Het
Defa34	A	G	8: 21,665,972		probably null	Het
Dgat1	T	C	15: 76,511,567	Y72C	possibly damaging	Het
Efr3b	G	T	12: 3,982,058	D183E	probably benign	Het
Enpp3	A	T	10: 24,776,781	D759E	probably damaging	Het
Epyc	A	G	10: 97,649,763	T22A	probably benign	Het
Etfbkmt	C	T	6: 149,150,584	R96W	probably benign	Het
Fam83b	G	T	9: 76,492,826	L332I	possibly damaging	Het
Fat3	C	A	9: 15,999,685	E1674*	probably null	Het
Gm5134	C	A	10: 75,974,245	T120N	probably benign	Het
Gm5415	T	A	1: 32,545,875	N318I	possibly damaging	Het
Gm8251	T	A	1: 44,061,097	K280N	possibly damaging	Het
Gmip	C	T	8: 69,815,609		probably benign	Het
Gpbp1	G	T	13: 111,440,745	Q204K	possibly damaging	Het
Gpr108	T	C	17: 57,235,358	D549G	possibly damaging	Het
Gsdme	C	A	6: 50,246,127		probably benign	Het
Gucy2e	T	C	11: 69,235,576	D326G	probably benign	Het
H2-Eb2	C	T	17: 34,334,244	Q135*	probably null	Het
Hectd4	G	A	5: 121,305,673	E1319K	possibly damaging	Het
Hectd4	T	A	5: 121,281,896	Y635N	possibly damaging	Het
Hs3st2	T	C	7: 121,500,569	S213P	probably damaging	Het
Ikbkb	A	T	8: 22,671,635	C412*	probably null	Het
Itpr2	T	C	6: 146,417,979	T188A	possibly damaging	Het
Kcnh1	T	A	1: 192,418,941		probably benign	Het
Kctd21	T	C	7: 97,347,541	F74L	probably damaging	Het
Krt23	T	A	11: 99,486,782	I133L	probably damaging	Het
Krt74	T	C	15: 101,763,316		noncoding transcript	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Lmtk3	T	A	7: 45,794,112	L740M	possibly damaging	Het
Lrrc10	T	A	10: 117,045,790	L123Q	probably damaging	Het
Map1a	A	T	2: 121,305,774	H2357L	probably benign	Het
Mbl1	A	G	14: 41,158,749	N198S	probably damaging	Het
Mcf2l	A	G	8: 12,997,337	D233G	probably damaging	Het
Msto1	A	G	3: 88,911,541	L269P	probably benign	Het
Mtss1	A	T	15: 58,956,538	D175E	probably benign	Het
Myef2	A	T	2: 125,109,034		probably benign	Het
Neb	A	T	2: 52,290,743		probably benign	Het
Olfr1138	A	G	2: 87,737,481	V281A	probably damaging	Het
Olfr1238	A	T	2: 89,406,791	M96K	probably damaging	Het
Olfr305	T	C	7: 86,363,827	N170S	probably benign	Het
Parp2	T	A	14: 50,819,673	Y361N	probably damaging	Het
Parp3	A	G	9: 106,471,796	F466L	possibly damaging	Het
Pcdh15	A	T	10: 74,290,976	N296Y	probably damaging	Het
Pdzrn3	A	T	6: 101,151,053	I884N	probably damaging	Het
Pim1	T	C	17: 29,493,909		probably benign	Het
Pou6f2	A	G	13: 18,139,723		probably benign	Het
Prelid3b	A	G	2: 174,465,950		probably benign	Het
Proc	G	A	18: 32,125,118	T258I	probably benign	Het
Rab3gap2	T	C	1: 185,260,508		probably benign	Het
Rb1cc1	A	C	1: 6,249,171	K938T	probably benign	Het
Rem2	T	C	14: 54,476,297		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rin2	A	G	2: 145,861,033	K550E	probably benign	Het
Rps6ka4	G	T	19: 6,840,498	T17N	probably benign	Het
Rtn4	T	A	11: 29,733,849		probably benign	Het
Ruvbl2	C	T	7: 45,431,306		probably benign	Het
Scaper	A	G	9: 55,758,062		probably benign	Het
Sdc2	T	C	15: 33,017,089		probably benign	Het
Slc35e1	T	C	8: 72,492,571		probably benign	Het
Slco2b1	T	A	7: 99,661,536	M603L	probably benign	Het
Smpdl3b	A	G	4: 132,745,138	V108A	probably damaging	Het
Sptbn4	C	T	7: 27,361,566		probably null	Het
Srrm1	G	A	4: 135,338,543		probably benign	Het
Ssh1	A	T	5: 113,946,705	D448E	probably benign	Het
Ssmem1	A	T	6: 30,519,548		probably null	Het
Sv2b	T	G	7: 75,136,392	M427L	probably benign	Het
Syne1	A	G	10: 5,367,600	L498P	probably damaging	Het
Syne2	T	C	12: 75,854,149		probably null	Het
Taf6l	G	T	19: 8,778,521	H254Q	probably benign	Het
Traf3ip3	T	A	1: 193,178,231		probably null	Het
Trpm1	G	A	7: 64,223,758	G587D	probably damaging	Het
Ttn	A	G	2: 76,730,412	V29215A	probably damaging	Het
Ubr4	T	G	4: 139,430,223	S2364A	probably benign	Het
Ush2a	T	A	1: 188,734,663		probably benign	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Vmn2r57	A	T	7: 41,427,792	S317T	possibly damaging	Het
Vwa2	A	G	19: 56,898,068		probably benign	Het
Wdr73	G	A	7: 80,897,950	Q107*	probably null	Het
Zbtb10	T	A	3: 9,264,668	V362E	probably damaging	Het
Zfp217	C	T	2: 170,115,462	A539T	probably benign	Het
Zfp296	A	T	7: 19,577,906	M113L	probably benign	Het
Zfp729b	A	T	13: 67,591,134	V1004E	probably benign	Het

Other mutations in Fbn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Fbn1	APN	2	125,324,947 (GRCm38)	missense	probably damaging	1.00
IGL00159:Fbn1	APN	2	125,397,873 (GRCm38)	missense	probably benign	0.14
IGL00500:Fbn1	APN	2	125,317,516 (GRCm38)	missense	probably damaging	0.99
IGL00558:Fbn1	APN	2	125,329,128 (GRCm38)	splice site	probably benign
IGL00645:Fbn1	APN	2	125,317,103 (GRCm38)	splice site	probably benign
IGL00863:Fbn1	APN	2	125,403,219 (GRCm38)	missense	possibly damaging	0.84
IGL00926:Fbn1	APN	2	125,319,042 (GRCm38)	missense	possibly damaging	0.84
IGL00935:Fbn1	APN	2	125,377,910 (GRCm38)	nonsense	probably null
IGL00950:Fbn1	APN	2	125,358,823 (GRCm38)	missense	probably damaging	1.00
IGL01090:Fbn1	APN	2	125,394,776 (GRCm38)	splice site	probably benign
IGL01106:Fbn1	APN	2	125,351,706 (GRCm38)	missense	possibly damaging	0.55
IGL01486:Fbn1	APN	2	125,389,978 (GRCm38)	missense	probably benign	0.03
IGL01519:Fbn1	APN	2	125,317,019 (GRCm38)	missense	probably benign	0.07
IGL01585:Fbn1	APN	2	125,360,110 (GRCm38)	missense	probably damaging	0.98
IGL01730:Fbn1	APN	2	125,312,974 (GRCm38)	splice site	probably benign
IGL01793:Fbn1	APN	2	125,387,293 (GRCm38)	missense	possibly damaging	0.67
IGL01803:Fbn1	APN	2	125,350,287 (GRCm38)	missense	probably damaging	1.00
IGL01803:Fbn1	APN	2	125,301,725 (GRCm38)	missense	probably benign
IGL01916:Fbn1	APN	2	125,315,446 (GRCm38)	missense	possibly damaging	0.55
IGL02035:Fbn1	APN	2	125,335,362 (GRCm38)	splice site	probably null
IGL02097:Fbn1	APN	2	125,363,969 (GRCm38)	missense	probably damaging	1.00
IGL02233:Fbn1	APN	2	125,321,610 (GRCm38)	splice site	probably benign
IGL02512:Fbn1	APN	2	125,338,460 (GRCm38)	missense	probably damaging	1.00
IGL02552:Fbn1	APN	2	125,412,713 (GRCm38)	missense	possibly damaging	0.86
IGL02657:Fbn1	APN	2	125,352,025 (GRCm38)	missense	possibly damaging	0.86
IGL02718:Fbn1	APN	2	125,369,886 (GRCm38)	missense	probably damaging	1.00
IGL02863:Fbn1	APN	2	125,303,256 (GRCm38)	missense	possibly damaging	0.80
IGL02974:Fbn1	APN	2	125,346,330 (GRCm38)	missense	probably null	0.99
IGL03058:Fbn1	APN	2	125,403,200 (GRCm38)	missense	probably benign	0.03
IGL03172:Fbn1	APN	2	125,320,968 (GRCm38)	missense	possibly damaging	0.92
IGL03288:Fbn1	APN	2	125,303,183 (GRCm38)	missense	probably benign	0.13
Carinatum	UTSW	2	125,342,830 (GRCm38)	missense	possibly damaging	0.70
Elasticity	UTSW	2	125,403,132 (GRCm38)	missense	possibly damaging	0.63
Excavatum	UTSW	2	125,335,487 (GRCm38)	missense	probably damaging	1.00
Exceedingly	UTSW	2	125,344,095 (GRCm38)	critical splice acceptor site	probably benign
Extensor	UTSW	2	125,328,158 (GRCm38)	missense	probably damaging	1.00
lincoln	UTSW	2	125,403,170 (GRCm38)	missense	possibly damaging	0.50
Long	UTSW	2	125,317,038 (GRCm38)	missense	probably damaging	1.00
Pectus	UTSW	2	125,321,691 (GRCm38)	missense	possibly damaging	0.82
Reach	UTSW	2	125,382,034 (GRCm38)	nonsense	probably null
reaper	UTSW	2	125,315,404 (GRCm38)	missense	probably damaging	0.98
Scythe	UTSW	2	125,403,228 (GRCm38)	missense	possibly damaging	0.84
String_bean	UTSW	2	125,379,134 (GRCm38)	splice site	probably null
wirey	UTSW	2	125,309,495 (GRCm38)	missense	probably benign
3-1:Fbn1	UTSW	2	125,394,605 (GRCm38)	splice site	probably benign
BB004:Fbn1	UTSW	2	125,383,736 (GRCm38)	missense	possibly damaging	0.82
BB014:Fbn1	UTSW	2	125,383,736 (GRCm38)	missense	possibly damaging	0.82
P0012:Fbn1	UTSW	2	125,369,321 (GRCm38)	splice site	probably benign
PIT4403001:Fbn1	UTSW	2	125,342,911 (GRCm38)	missense	probably damaging	1.00
PIT4466001:Fbn1	UTSW	2	125,306,501 (GRCm38)	missense	possibly damaging	0.90
PIT4472001:Fbn1	UTSW	2	125,306,501 (GRCm38)	missense	possibly damaging	0.90
PIT4651001:Fbn1	UTSW	2	125,363,989 (GRCm38)	critical splice acceptor site	probably null
R0226:Fbn1	UTSW	2	125,320,910 (GRCm38)	missense	possibly damaging	0.86
R0310:Fbn1	UTSW	2	125,363,644 (GRCm38)	missense	probably damaging	1.00
R0362:Fbn1	UTSW	2	125,309,777 (GRCm38)	missense	probably damaging	0.99
R0374:Fbn1	UTSW	2	125,321,676 (GRCm38)	missense	possibly damaging	0.86
R0433:Fbn1	UTSW	2	125,348,215 (GRCm38)	missense	possibly damaging	0.95
R0441:Fbn1	UTSW	2	125,309,755 (GRCm38)	critical splice donor site	probably null
R0501:Fbn1	UTSW	2	125,301,749 (GRCm38)	missense	probably benign	0.23
R0573:Fbn1	UTSW	2	125,389,249 (GRCm38)	missense	probably damaging	0.99
R0622:Fbn1	UTSW	2	125,379,024 (GRCm38)	missense	possibly damaging	0.88
R0630:Fbn1	UTSW	2	125,394,770 (GRCm38)	missense	possibly damaging	0.48
R0724:Fbn1	UTSW	2	125,352,064 (GRCm38)	missense	probably benign	0.14
R0739:Fbn1	UTSW	2	125,367,630 (GRCm38)	missense	probably benign	0.18
R0744:Fbn1	UTSW	2	125,314,814 (GRCm38)	splice site	probably benign
R0811:Fbn1	UTSW	2	125,403,170 (GRCm38)	missense	possibly damaging	0.50
R0812:Fbn1	UTSW	2	125,403,170 (GRCm38)	missense	possibly damaging	0.50
R0862:Fbn1	UTSW	2	125,342,891 (GRCm38)	nonsense	probably null
R0864:Fbn1	UTSW	2	125,342,891 (GRCm38)	nonsense	probably null
R1061:Fbn1	UTSW	2	125,345,963 (GRCm38)	missense	probably benign	0.01
R1126:Fbn1	UTSW	2	125,321,192 (GRCm38)	splice site	probably null
R1172:Fbn1	UTSW	2	125,394,687 (GRCm38)	missense	probably benign	0.13
R1175:Fbn1	UTSW	2	125,394,687 (GRCm38)	missense	probably benign	0.13
R1183:Fbn1	UTSW	2	125,321,617 (GRCm38)	missense	probably benign	0.07
R1218:Fbn1	UTSW	2	125,412,749 (GRCm38)	missense	possibly damaging	0.71
R1241:Fbn1	UTSW	2	125,372,527 (GRCm38)	splice site	probably benign
R1248:Fbn1	UTSW	2	125,301,609 (GRCm38)	missense	probably benign	0.01
R1345:Fbn1	UTSW	2	125,314,671 (GRCm38)	missense	probably damaging	1.00
R1374:Fbn1	UTSW	2	125,346,434 (GRCm38)	missense	probably damaging	0.99
R1458:Fbn1	UTSW	2	125,301,929 (GRCm38)	missense	probably benign	0.01
R1474:Fbn1	UTSW	2	125,361,265 (GRCm38)	missense	possibly damaging	0.72
R1496:Fbn1	UTSW	2	125,309,495 (GRCm38)	missense	probably benign
R1502:Fbn1	UTSW	2	125,363,706 (GRCm38)	nonsense	probably null
R1511:Fbn1	UTSW	2	125,306,285 (GRCm38)	missense	probably benign	0.00
R1588:Fbn1	UTSW	2	125,319,114 (GRCm38)	missense	probably benign	0.19
R1626:Fbn1	UTSW	2	125,341,279 (GRCm38)	missense	probably damaging	1.00
R1676:Fbn1	UTSW	2	125,309,781 (GRCm38)	missense	probably damaging	1.00
R1712:Fbn1	UTSW	2	125,346,434 (GRCm38)	missense	probably damaging	0.99
R1772:Fbn1	UTSW	2	125,403,228 (GRCm38)	missense	possibly damaging	0.84
R1776:Fbn1	UTSW	2	125,321,734 (GRCm38)	missense	possibly damaging	0.71
R1869:Fbn1	UTSW	2	125,352,027 (GRCm38)	missense	probably benign	0.00
R1894:Fbn1	UTSW	2	125,394,621 (GRCm38)	missense	probably damaging	0.96
R1925:Fbn1	UTSW	2	125,363,629 (GRCm38)	missense	probably damaging	1.00
R1957:Fbn1	UTSW	2	125,367,654 (GRCm38)	missense	possibly damaging	0.93
R1995:Fbn1	UTSW	2	125,350,373 (GRCm38)	critical splice acceptor site	probably null
R2140:Fbn1	UTSW	2	125,343,810 (GRCm38)	missense	probably damaging	1.00
R2142:Fbn1	UTSW	2	125,412,708 (GRCm38)	missense	possibly damaging	0.93
R2268:Fbn1	UTSW	2	125,321,741 (GRCm38)	missense	possibly damaging	0.49
R3409:Fbn1	UTSW	2	125,412,665 (GRCm38)	missense	possibly damaging	0.92
R3418:Fbn1	UTSW	2	125,320,926 (GRCm38)	missense	possibly damaging	0.55
R3508:Fbn1	UTSW	2	125,306,327 (GRCm38)	missense	probably benign	0.19
R3778:Fbn1	UTSW	2	125,317,086 (GRCm38)	missense	probably damaging	1.00
R3800:Fbn1	UTSW	2	125,345,974 (GRCm38)	missense	possibly damaging	0.63
R4001:Fbn1	UTSW	2	125,477,495 (GRCm38)	critical splice donor site	probably null
R4169:Fbn1	UTSW	2	125,363,952 (GRCm38)	missense	possibly damaging	0.86
R4398:Fbn1	UTSW	2	125,397,781 (GRCm38)	missense	probably benign	0.32
R4482:Fbn1	UTSW	2	125,363,610 (GRCm38)	critical splice donor site	probably null
R4559:Fbn1	UTSW	2	125,351,714 (GRCm38)	missense	possibly damaging	0.65
R4608:Fbn1	UTSW	2	125,306,500 (GRCm38)	missense	probably benign	0.05
R4634:Fbn1	UTSW	2	125,344,061 (GRCm38)	missense	probably damaging	1.00
R4706:Fbn1	UTSW	2	125,370,149 (GRCm38)	missense	probably benign	0.21
R4712:Fbn1	UTSW	2	125,341,316 (GRCm38)	missense	probably benign	0.12
R4783:Fbn1	UTSW	2	125,324,919 (GRCm38)	missense	probably damaging	1.00
R4784:Fbn1	UTSW	2	125,324,919 (GRCm38)	missense	probably damaging	1.00
R4785:Fbn1	UTSW	2	125,324,919 (GRCm38)	missense	probably damaging	1.00
R4793:Fbn1	UTSW	2	125,321,235 (GRCm38)	nonsense	probably null
R4838:Fbn1	UTSW	2	125,372,399 (GRCm38)	missense	probably benign	0.01
R4864:Fbn1	UTSW	2	125,372,397 (GRCm38)	missense	possibly damaging	0.92
R4887:Fbn1	UTSW	2	125,309,774 (GRCm38)	missense	probably damaging	1.00
R4942:Fbn1	UTSW	2	125,383,616 (GRCm38)	missense	possibly damaging	0.88
R4952:Fbn1	UTSW	2	125,317,534 (GRCm38)	missense	probably damaging	1.00
R5030:Fbn1	UTSW	2	125,412,704 (GRCm38)	missense	possibly damaging	0.51
R5044:Fbn1	UTSW	2	125,329,102 (GRCm38)	missense	probably damaging	0.97
R5057:Fbn1	UTSW	2	125,466,695 (GRCm38)	missense	probably benign	0.33
R5115:Fbn1	UTSW	2	125,332,383 (GRCm38)	missense	probably damaging	1.00
R5399:Fbn1	UTSW	2	125,332,333 (GRCm38)	missense	possibly damaging	0.69
R5498:Fbn1	UTSW	2	125,360,176 (GRCm38)	missense	probably damaging	1.00
R5526:Fbn1	UTSW	2	125,365,639 (GRCm38)	missense	possibly damaging	0.83
R5529:Fbn1	UTSW	2	125,373,950 (GRCm38)	missense	probably benign	0.01
R5602:Fbn1	UTSW	2	125,321,741 (GRCm38)	missense	possibly damaging	0.49
R5760:Fbn1	UTSW	2	125,361,247 (GRCm38)	missense	probably damaging	1.00
R5837:Fbn1	UTSW	2	125,379,134 (GRCm38)	splice site	probably null
R5955:Fbn1	UTSW	2	125,358,882 (GRCm38)	missense	probably damaging	1.00
R5980:Fbn1	UTSW	2	125,315,404 (GRCm38)	missense	probably damaging	0.98
R6039:Fbn1	UTSW	2	125,363,880 (GRCm38)	missense	probably damaging	1.00
R6039:Fbn1	UTSW	2	125,363,880 (GRCm38)	missense	probably damaging	1.00
R6058:Fbn1	UTSW	2	125,466,612 (GRCm38)	missense	possibly damaging	0.73
R6089:Fbn1	UTSW	2	125,321,225 (GRCm38)	missense	possibly damaging	0.55
R6136:Fbn1	UTSW	2	125,403,132 (GRCm38)	missense	possibly damaging	0.63
R6161:Fbn1	UTSW	2	125,369,801 (GRCm38)	nonsense	probably null
R6162:Fbn1	UTSW	2	125,360,227 (GRCm38)	missense	probably damaging	1.00
R6165:Fbn1	UTSW	2	125,332,363 (GRCm38)	missense	probably damaging	0.99
R6169:Fbn1	UTSW	2	125,335,489 (GRCm38)	critical splice acceptor site	probably null
R6221:Fbn1	UTSW	2	125,320,921 (GRCm38)	missense	probably benign	0.07
R6223:Fbn1	UTSW	2	125,412,671 (GRCm38)	missense	possibly damaging	0.86
R6225:Fbn1	UTSW	2	125,330,543 (GRCm38)	missense	probably damaging	1.00
R6238:Fbn1	UTSW	2	125,324,945 (GRCm38)	missense	probably damaging	0.98
R6329:Fbn1	UTSW	2	125,308,473 (GRCm38)	missense	possibly damaging	0.70
R6401:Fbn1	UTSW	2	125,346,450 (GRCm38)	missense	probably damaging	0.98
R6480:Fbn1	UTSW	2	125,335,418 (GRCm38)	missense	probably benign	0.05
R6513:Fbn1	UTSW	2	125,383,671 (GRCm38)	missense	probably damaging	1.00
R6530:Fbn1	UTSW	2	125,389,270 (GRCm38)	missense	probably damaging	0.99
R6595:Fbn1	UTSW	2	125,342,830 (GRCm38)	missense	possibly damaging	0.70
R6781:Fbn1	UTSW	2	125,317,038 (GRCm38)	missense	probably damaging	1.00
R6849:Fbn1	UTSW	2	125,321,691 (GRCm38)	missense	possibly damaging	0.82
R6860:Fbn1	UTSW	2	125,328,158 (GRCm38)	missense	probably damaging	1.00
R6960:Fbn1	UTSW	2	125,382,060 (GRCm38)	missense	probably benign	0.16
R7134:Fbn1	UTSW	2	125,382,049 (GRCm38)	missense	probably benign	0.03
R7241:Fbn1	UTSW	2	125,306,495 (GRCm38)	missense	possibly damaging	0.86
R7295:Fbn1	UTSW	2	125,335,487 (GRCm38)	missense	probably damaging	1.00
R7312:Fbn1	UTSW	2	125,466,674 (GRCm38)	missense	possibly damaging	0.53
R7322:Fbn1	UTSW	2	125,479,195 (GRCm38)	missense	possibly damaging	0.92
R7349:Fbn1	UTSW	2	125,315,401 (GRCm38)	missense	possibly damaging	0.84
R7365:Fbn1	UTSW	2	125,352,049 (GRCm38)	missense	probably damaging	0.97
R7392:Fbn1	UTSW	2	125,343,924 (GRCm38)	missense	probably damaging	1.00
R7442:Fbn1	UTSW	2	125,403,212 (GRCm38)	missense	possibly damaging	0.45
R7452:Fbn1	UTSW	2	125,505,455 (GRCm38)	missense	possibly damaging	0.53
R7453:Fbn1	UTSW	2	125,320,959 (GRCm38)	missense	possibly damaging	0.93
R7457:Fbn1	UTSW	2	125,351,747 (GRCm38)	missense	possibly damaging	0.90
R7458:Fbn1	UTSW	2	125,319,116 (GRCm38)	missense	probably benign	0.14
R7549:Fbn1	UTSW	2	125,344,027 (GRCm38)	missense	probably damaging	0.99
R7570:Fbn1	UTSW	2	125,397,852 (GRCm38)	missense	probably benign	0.29
R7666:Fbn1	UTSW	2	125,306,471 (GRCm38)	missense	probably damaging	1.00
R7723:Fbn1	UTSW	2	125,382,034 (GRCm38)	nonsense	probably null
R7745:Fbn1	UTSW	2	125,303,195 (GRCm38)	missense	probably benign	0.06
R7754:Fbn1	UTSW	2	125,479,280 (GRCm38)	splice site	probably null
R7780:Fbn1	UTSW	2	125,301,758 (GRCm38)	missense	probably benign	0.15
R7849:Fbn1	UTSW	2	125,309,485 (GRCm38)	missense	probably damaging	0.98
R7927:Fbn1	UTSW	2	125,383,736 (GRCm38)	missense	possibly damaging	0.82
R7942:Fbn1	UTSW	2	125,412,786 (GRCm38)	missense	possibly damaging	0.53
R7948:Fbn1	UTSW	2	125,341,299 (GRCm38)	missense	probably damaging	1.00
R7985:Fbn1	UTSW	2	125,301,878 (GRCm38)	missense	probably benign	0.01
R8051:Fbn1	UTSW	2	125,306,463 (GRCm38)	missense	possibly damaging	0.86
R8054:Fbn1	UTSW	2	125,346,018 (GRCm38)	missense	possibly damaging	0.93
R8058:Fbn1	UTSW	2	125,351,969 (GRCm38)	missense	possibly damaging	0.46
R8113:Fbn1	UTSW	2	125,477,569 (GRCm38)	missense	probably damaging	1.00
R8307:Fbn1	UTSW	2	125,505,482 (GRCm38)	missense	possibly damaging	0.53
R8472:Fbn1	UTSW	2	125,309,802 (GRCm38)	missense	probably damaging	1.00
R8690:Fbn1	UTSW	2	125,344,095 (GRCm38)	critical splice acceptor site	probably benign
R8724:Fbn1	UTSW	2	125,360,146 (GRCm38)	missense	probably damaging	0.98
R8856:Fbn1	UTSW	2	125,314,717 (GRCm38)	missense	probably damaging	1.00
R8916:Fbn1	UTSW	2	125,403,229 (GRCm38)	missense	possibly damaging	0.63
R8931:Fbn1	UTSW	2	125,360,175 (GRCm38)	missense	probably damaging	1.00
R8988:Fbn1	UTSW	2	125,370,806 (GRCm38)	missense	possibly damaging	0.88
R9127:Fbn1	UTSW	2	125,382,065 (GRCm38)	missense	possibly damaging	0.86
R9161:Fbn1	UTSW	2	125,350,350 (GRCm38)	missense	probably damaging	1.00
R9495:Fbn1	UTSW	2	125,319,064 (GRCm38)	missense	probably damaging	0.96
R9515:Fbn1	UTSW	2	125,365,631 (GRCm38)	missense	probably benign	0.03
R9557:Fbn1	UTSW	2	125,338,538 (GRCm38)	missense	probably damaging	0.99
R9597:Fbn1	UTSW	2	125,345,986 (GRCm38)	missense	probably benign
R9680:Fbn1	UTSW	2	125,468,564 (GRCm38)	missense	probably benign	0.29
R9723:Fbn1	UTSW	2	125,360,199 (GRCm38)	nonsense	probably null
R9734:Fbn1	UTSW	2	125,389,978 (GRCm38)	missense	probably benign	0.03
R9796:Fbn1	UTSW	2	125,317,021 (GRCm38)	missense	probably benign	0.19
X0019:Fbn1	UTSW	2	125,383,643 (GRCm38)	missense	possibly damaging	0.82
X0020:Fbn1	UTSW	2	125,369,340 (GRCm38)	missense	probably damaging	1.00
X0028:Fbn1	UTSW	2	125,342,798 (GRCm38)	critical splice donor site	probably null
X0067:Fbn1	UTSW	2	125,369,914 (GRCm38)	missense	possibly damaging	0.95
Z1088:Fbn1	UTSW	2	125,350,288 (GRCm38)	missense	probably damaging	0.99
Z1176:Fbn1	UTSW	2	125,387,350 (GRCm38)	missense	possibly damaging	0.51
Z1177:Fbn1	UTSW	2	125,389,231 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCGGGCTGTATCTCACTACAAC -3'
(R):5'- GGCTGAGGACCTGCTGTTCATATC -3'

Sequencing Primer
(F):5'- TTCAAAGGAGGCAATCACTCTG -3'
(R):5'- TCATATCTGGGTTTTAGGTCCTC -3'

Posted On

2013-06-12