Mutagenetix > Incidental Mutation

Incidental Mutation 'R1894:Fbn1'

211773

Institutional Source

Beutler Lab

Gene Symbol

Fbn1

Ensembl Gene

ENSMUSG00000027204

Gene Name

fibrillin 1

Synonyms

Fib-1

MMRRC Submission

039914-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.916) question?

Stock #

R1894 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125142514-125348417 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 125236541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 380 (R380W)

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: R380W

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000028633
Gene: ENSMUSG00000027204
AA Change: R380W

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: R380W

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000099524
Gene: ENSMUSG00000027204
AA Change: R380W

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148272

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

MGI Phenotype

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	T	C	4: 129,907,419 (GRCm39)	F977S	probably damaging	Het
Ago4	A	G	4: 126,406,393 (GRCm39)	Y306H	probably benign	Het
Cblc	T	C	7: 19,526,502 (GRCm39)	T196A	probably damaging	Het
Cfap52	T	A	11: 67,844,445 (GRCm39)		probably null	Het
Cops3	T	C	11: 59,710,844 (GRCm39)	N375S	probably benign	Het
Crb1	T	C	1: 139,170,931 (GRCm39)	T759A	probably benign	Het
Dnah3	T	C	7: 119,685,557 (GRCm39)	K153E	probably benign	Het
Elovl1	C	T	4: 118,287,945 (GRCm39)	S27F	probably damaging	Het
Erc2	A	G	14: 27,863,185 (GRCm39)	E804G	probably damaging	Het
Fam110b	G	T	4: 5,798,840 (GRCm39)	C86F	probably damaging	Het
Gatad2a	C	T	8: 70,369,301 (GRCm39)	R221Q	probably damaging	Het
Gcn1	C	T	5: 115,727,174 (GRCm39)	P677L	probably damaging	Het
Gm6020	C	T	19: 61,172,391 (GRCm39)	H22Y	possibly damaging	Het
Gm9817	T	C	13: 45,232,605 (GRCm39)	V136A	unknown	Het
Gmip	T	A	8: 70,273,622 (GRCm39)	L971H	probably damaging	Het
Gnptab	G	A	10: 88,254,989 (GRCm39)	E192K	possibly damaging	Het
Grm7	G	A	6: 111,335,568 (GRCm39)	V660I	probably benign	Het
Helz2	G	A	2: 180,876,082 (GRCm39)	P1471S	probably damaging	Het
Herc1	G	A	9: 66,386,743 (GRCm39)	G3786S	probably damaging	Het
Isg20	T	C	7: 78,569,647 (GRCm39)	V206A	probably benign	Het
Jund	T	A	8: 71,152,470 (GRCm39)	I255N	probably damaging	Het
Kcnt2	A	T	1: 140,353,079 (GRCm39)	I263F	probably damaging	Het
Kif2c	A	T	4: 117,019,420 (GRCm39)	L561Q	probably benign	Het
Klhl3	T	C	13: 58,157,189 (GRCm39)	D546G	probably damaging	Het
Klk1b4	A	T	7: 43,859,054 (GRCm39)	Q24L	probably benign	Het
Ltbp2	A	T	12: 84,834,735 (GRCm39)	C225S	probably damaging	Het
Mcub	T	C	3: 129,728,312 (GRCm39)	H55R	probably benign	Het
Mecp2	C	T	X: 73,080,781 (GRCm39)	A79T	probably damaging	Het
Med18	G	A	4: 132,187,242 (GRCm39)	R86*	probably null	Het
Mfsd2b	T	C	12: 4,919,155 (GRCm39)	E63G	probably damaging	Het
Mtus1	C	T	8: 41,537,362 (GRCm39)	S118N	probably damaging	Het
Mybbp1a	C	T	11: 72,336,863 (GRCm39)	T565I	probably benign	Het
Myo15b	G	A	11: 115,777,899 (GRCm39)	G1049S	probably damaging	Het
Nfrkb	T	A	9: 31,326,064 (GRCm39)	V1169E	probably benign	Het
Nr2f2	T	A	7: 70,004,419 (GRCm39)	M411L	probably benign	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Nup214	A	T	2: 31,886,392 (GRCm39)	T585S	possibly damaging	Het
Or5m13	C	T	2: 85,748,599 (GRCm39)	T110I	probably benign	Het
Or6c214	A	T	10: 129,590,943 (GRCm39)	C125*	probably null	Het
Or7e177	T	C	9: 20,211,633 (GRCm39)	S47P	probably benign	Het
Or8b12b	T	A	9: 37,684,163 (GRCm39)	D69E	possibly damaging	Het
Pih1d1	T	A	7: 44,807,165 (GRCm39)	I166N	probably damaging	Het
Prl2c5	T	C	13: 13,366,263 (GRCm39)	F181L	probably benign	Het
Prx	C	T	7: 27,218,535 (GRCm39)	T1012I	possibly damaging	Het
Rassf8	T	A	6: 145,754,199 (GRCm39)	V5E	probably damaging	Het
Rassf9	C	A	10: 102,380,755 (GRCm39)	R44S	possibly damaging	Het
Relch	A	T	1: 105,592,301 (GRCm39)	I157F	probably benign	Het
Sde2	G	A	1: 180,687,573 (GRCm39)	S153N	probably benign	Het
Sec16b	T	A	1: 157,380,545 (GRCm39)	M372K	possibly damaging	Het
Sgcd	A	T	11: 47,085,937 (GRCm39)	I71N	probably damaging	Het
Slco5a1	C	T	1: 12,942,483 (GRCm39)	C721Y	probably damaging	Het
Slx4ip	A	T	2: 136,910,038 (GRCm39)	K344N	probably benign	Het
Sorcs3	A	T	19: 48,782,713 (GRCm39)	Q1076L	probably benign	Het
Spata21	A	T	4: 140,838,692 (GRCm39)	N581I	possibly damaging	Het
Spata31d1d	G	T	13: 59,875,936 (GRCm39)	P533H	probably benign	Het
Spice1	T	G	16: 44,185,989 (GRCm39)	S111A	probably damaging	Het
Tex14	T	G	11: 87,365,274 (GRCm39)	F61V	probably damaging	Het
Timp3	C	T	10: 86,181,716 (GRCm39)	R196*	probably null	Het
Tll2	A	G	19: 41,077,110 (GRCm39)		probably null	Het
Tppp	A	G	13: 74,169,326 (GRCm39)	D22G	possibly damaging	Het
Trim24	G	T	6: 37,934,013 (GRCm39)	R652L	probably damaging	Het
Uaca	T	C	9: 60,777,718 (GRCm39)	S702P	possibly damaging	Het
Uggt2	T	C	14: 119,287,130 (GRCm39)	E146G	probably damaging	Het
Vmn1r233	T	C	17: 21,213,994 (GRCm39)	S319G	probably benign	Het
Wdr47	A	T	3: 108,530,692 (GRCm39)	Q395L	possibly damaging	Het
Wrnip1	A	G	13: 32,989,319 (GRCm39)		probably null	Het
Zfp420	A	T	7: 29,573,933 (GRCm39)	H51L	probably damaging	Het

Other mutations in Fbn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00090:Fbn1	APN	2	125,166,867 (GRCm39)	missense	probably damaging	1.00
IGL00159:Fbn1	APN	2	125,239,793 (GRCm39)	missense	probably benign	0.14
IGL00500:Fbn1	APN	2	125,159,436 (GRCm39)	missense	probably damaging	0.99
IGL00558:Fbn1	APN	2	125,171,048 (GRCm39)	splice site	probably benign
IGL00645:Fbn1	APN	2	125,159,023 (GRCm39)	splice site	probably benign
IGL00863:Fbn1	APN	2	125,245,139 (GRCm39)	missense	possibly damaging	0.84
IGL00926:Fbn1	APN	2	125,160,962 (GRCm39)	missense	possibly damaging	0.84
IGL00935:Fbn1	APN	2	125,219,830 (GRCm39)	nonsense	probably null
IGL00950:Fbn1	APN	2	125,200,743 (GRCm39)	missense	probably damaging	1.00
IGL01090:Fbn1	APN	2	125,236,696 (GRCm39)	splice site	probably benign
IGL01106:Fbn1	APN	2	125,193,626 (GRCm39)	missense	possibly damaging	0.55
IGL01486:Fbn1	APN	2	125,231,898 (GRCm39)	missense	probably benign	0.03
IGL01519:Fbn1	APN	2	125,158,939 (GRCm39)	missense	probably benign	0.07
IGL01585:Fbn1	APN	2	125,202,030 (GRCm39)	missense	probably damaging	0.98
IGL01730:Fbn1	APN	2	125,154,894 (GRCm39)	splice site	probably benign
IGL01793:Fbn1	APN	2	125,229,213 (GRCm39)	missense	possibly damaging	0.67
IGL01803:Fbn1	APN	2	125,192,207 (GRCm39)	missense	probably damaging	1.00
IGL01803:Fbn1	APN	2	125,143,645 (GRCm39)	missense	probably benign
IGL01916:Fbn1	APN	2	125,157,366 (GRCm39)	missense	possibly damaging	0.55
IGL02035:Fbn1	APN	2	125,177,282 (GRCm39)	splice site	probably null
IGL02097:Fbn1	APN	2	125,205,889 (GRCm39)	missense	probably damaging	1.00
IGL02233:Fbn1	APN	2	125,163,530 (GRCm39)	splice site	probably benign
IGL02512:Fbn1	APN	2	125,180,380 (GRCm39)	missense	probably damaging	1.00
IGL02552:Fbn1	APN	2	125,254,633 (GRCm39)	missense	possibly damaging	0.86
IGL02657:Fbn1	APN	2	125,193,945 (GRCm39)	missense	possibly damaging	0.86
IGL02718:Fbn1	APN	2	125,211,806 (GRCm39)	missense	probably damaging	1.00
IGL02863:Fbn1	APN	2	125,145,176 (GRCm39)	missense	possibly damaging	0.80
IGL02974:Fbn1	APN	2	125,188,250 (GRCm39)	missense	probably null	0.99
IGL03058:Fbn1	APN	2	125,245,120 (GRCm39)	missense	probably benign	0.03
IGL03172:Fbn1	APN	2	125,162,888 (GRCm39)	missense	possibly damaging	0.92
IGL03288:Fbn1	APN	2	125,145,103 (GRCm39)	missense	probably benign	0.13
Carinatum	UTSW	2	125,184,750 (GRCm39)	missense	possibly damaging	0.70
Elasticity	UTSW	2	125,245,052 (GRCm39)	missense	possibly damaging	0.63
Excavatum	UTSW	2	125,177,407 (GRCm39)	missense	probably damaging	1.00
Exceedingly	UTSW	2	125,186,015 (GRCm39)	critical splice acceptor site	probably benign
Extensor	UTSW	2	125,170,078 (GRCm39)	missense	probably damaging	1.00
lincoln	UTSW	2	125,245,090 (GRCm39)	missense	possibly damaging	0.50
Long	UTSW	2	125,158,958 (GRCm39)	missense	probably damaging	1.00
Pectus	UTSW	2	125,163,611 (GRCm39)	missense	possibly damaging	0.82
Reach	UTSW	2	125,223,954 (GRCm39)	nonsense	probably null
reaper	UTSW	2	125,157,324 (GRCm39)	missense	probably damaging	0.98
Scythe	UTSW	2	125,245,148 (GRCm39)	missense	possibly damaging	0.84
String_bean	UTSW	2	125,221,054 (GRCm39)	splice site	probably null
wirey	UTSW	2	125,151,415 (GRCm39)	missense	probably benign
3-1:Fbn1	UTSW	2	125,236,525 (GRCm39)	splice site	probably benign
BB004:Fbn1	UTSW	2	125,225,656 (GRCm39)	missense	possibly damaging	0.82
BB014:Fbn1	UTSW	2	125,225,656 (GRCm39)	missense	possibly damaging	0.82
P0012:Fbn1	UTSW	2	125,211,241 (GRCm39)	splice site	probably benign
PIT4403001:Fbn1	UTSW	2	125,184,831 (GRCm39)	missense	probably damaging	1.00
PIT4466001:Fbn1	UTSW	2	125,148,421 (GRCm39)	missense	possibly damaging	0.90
PIT4472001:Fbn1	UTSW	2	125,148,421 (GRCm39)	missense	possibly damaging	0.90
PIT4651001:Fbn1	UTSW	2	125,205,909 (GRCm39)	critical splice acceptor site	probably null
R0226:Fbn1	UTSW	2	125,162,830 (GRCm39)	missense	possibly damaging	0.86
R0310:Fbn1	UTSW	2	125,205,564 (GRCm39)	missense	probably damaging	1.00
R0362:Fbn1	UTSW	2	125,151,697 (GRCm39)	missense	probably damaging	0.99
R0374:Fbn1	UTSW	2	125,163,596 (GRCm39)	missense	possibly damaging	0.86
R0433:Fbn1	UTSW	2	125,190,135 (GRCm39)	missense	possibly damaging	0.95
R0441:Fbn1	UTSW	2	125,151,675 (GRCm39)	critical splice donor site	probably null
R0501:Fbn1	UTSW	2	125,143,669 (GRCm39)	missense	probably benign	0.23
R0510:Fbn1	UTSW	2	125,184,845 (GRCm39)	splice site	probably benign
R0573:Fbn1	UTSW	2	125,231,169 (GRCm39)	missense	probably damaging	0.99
R0622:Fbn1	UTSW	2	125,220,944 (GRCm39)	missense	possibly damaging	0.88
R0630:Fbn1	UTSW	2	125,236,690 (GRCm39)	missense	possibly damaging	0.48
R0724:Fbn1	UTSW	2	125,193,984 (GRCm39)	missense	probably benign	0.14
R0739:Fbn1	UTSW	2	125,209,550 (GRCm39)	missense	probably benign	0.18
R0744:Fbn1	UTSW	2	125,156,734 (GRCm39)	splice site	probably benign
R0811:Fbn1	UTSW	2	125,245,090 (GRCm39)	missense	possibly damaging	0.50
R0812:Fbn1	UTSW	2	125,245,090 (GRCm39)	missense	possibly damaging	0.50
R0862:Fbn1	UTSW	2	125,184,811 (GRCm39)	nonsense	probably null
R0864:Fbn1	UTSW	2	125,184,811 (GRCm39)	nonsense	probably null
R1061:Fbn1	UTSW	2	125,187,883 (GRCm39)	missense	probably benign	0.01
R1126:Fbn1	UTSW	2	125,163,112 (GRCm39)	splice site	probably null
R1172:Fbn1	UTSW	2	125,236,607 (GRCm39)	missense	probably benign	0.13
R1175:Fbn1	UTSW	2	125,236,607 (GRCm39)	missense	probably benign	0.13
R1183:Fbn1	UTSW	2	125,163,537 (GRCm39)	missense	probably benign	0.07
R1218:Fbn1	UTSW	2	125,254,669 (GRCm39)	missense	possibly damaging	0.71
R1241:Fbn1	UTSW	2	125,214,447 (GRCm39)	splice site	probably benign
R1248:Fbn1	UTSW	2	125,143,529 (GRCm39)	missense	probably benign	0.01
R1345:Fbn1	UTSW	2	125,156,591 (GRCm39)	missense	probably damaging	1.00
R1374:Fbn1	UTSW	2	125,188,354 (GRCm39)	missense	probably damaging	0.99
R1458:Fbn1	UTSW	2	125,143,849 (GRCm39)	missense	probably benign	0.01
R1474:Fbn1	UTSW	2	125,203,185 (GRCm39)	missense	possibly damaging	0.72
R1496:Fbn1	UTSW	2	125,151,415 (GRCm39)	missense	probably benign
R1502:Fbn1	UTSW	2	125,205,626 (GRCm39)	nonsense	probably null
R1511:Fbn1	UTSW	2	125,148,205 (GRCm39)	missense	probably benign	0.00
R1588:Fbn1	UTSW	2	125,161,034 (GRCm39)	missense	probably benign	0.19
R1626:Fbn1	UTSW	2	125,183,199 (GRCm39)	missense	probably damaging	1.00
R1676:Fbn1	UTSW	2	125,151,701 (GRCm39)	missense	probably damaging	1.00
R1712:Fbn1	UTSW	2	125,188,354 (GRCm39)	missense	probably damaging	0.99
R1772:Fbn1	UTSW	2	125,245,148 (GRCm39)	missense	possibly damaging	0.84
R1776:Fbn1	UTSW	2	125,163,654 (GRCm39)	missense	possibly damaging	0.71
R1869:Fbn1	UTSW	2	125,193,947 (GRCm39)	missense	probably benign	0.00
R1925:Fbn1	UTSW	2	125,205,549 (GRCm39)	missense	probably damaging	1.00
R1957:Fbn1	UTSW	2	125,209,574 (GRCm39)	missense	possibly damaging	0.93
R1995:Fbn1	UTSW	2	125,192,293 (GRCm39)	critical splice acceptor site	probably null
R2140:Fbn1	UTSW	2	125,185,730 (GRCm39)	missense	probably damaging	1.00
R2142:Fbn1	UTSW	2	125,254,628 (GRCm39)	missense	possibly damaging	0.93
R2268:Fbn1	UTSW	2	125,163,661 (GRCm39)	missense	possibly damaging	0.49
R3409:Fbn1	UTSW	2	125,254,585 (GRCm39)	missense	possibly damaging	0.92
R3418:Fbn1	UTSW	2	125,162,846 (GRCm39)	missense	possibly damaging	0.55
R3508:Fbn1	UTSW	2	125,148,247 (GRCm39)	missense	probably benign	0.19
R3778:Fbn1	UTSW	2	125,159,006 (GRCm39)	missense	probably damaging	1.00
R3800:Fbn1	UTSW	2	125,187,894 (GRCm39)	missense	possibly damaging	0.63
R4001:Fbn1	UTSW	2	125,319,415 (GRCm39)	critical splice donor site	probably null
R4169:Fbn1	UTSW	2	125,205,872 (GRCm39)	missense	possibly damaging	0.86
R4398:Fbn1	UTSW	2	125,239,701 (GRCm39)	missense	probably benign	0.32
R4482:Fbn1	UTSW	2	125,205,530 (GRCm39)	critical splice donor site	probably null
R4559:Fbn1	UTSW	2	125,193,634 (GRCm39)	missense	possibly damaging	0.65
R4608:Fbn1	UTSW	2	125,148,420 (GRCm39)	missense	probably benign	0.05
R4634:Fbn1	UTSW	2	125,185,981 (GRCm39)	missense	probably damaging	1.00
R4706:Fbn1	UTSW	2	125,212,069 (GRCm39)	missense	probably benign	0.21
R4712:Fbn1	UTSW	2	125,183,236 (GRCm39)	missense	probably benign	0.12
R4783:Fbn1	UTSW	2	125,166,839 (GRCm39)	missense	probably damaging	1.00
R4784:Fbn1	UTSW	2	125,166,839 (GRCm39)	missense	probably damaging	1.00
R4785:Fbn1	UTSW	2	125,166,839 (GRCm39)	missense	probably damaging	1.00
R4793:Fbn1	UTSW	2	125,163,155 (GRCm39)	nonsense	probably null
R4838:Fbn1	UTSW	2	125,214,319 (GRCm39)	missense	probably benign	0.01
R4864:Fbn1	UTSW	2	125,214,317 (GRCm39)	missense	possibly damaging	0.92
R4887:Fbn1	UTSW	2	125,151,694 (GRCm39)	missense	probably damaging	1.00
R4942:Fbn1	UTSW	2	125,225,536 (GRCm39)	missense	possibly damaging	0.88
R4952:Fbn1	UTSW	2	125,159,454 (GRCm39)	missense	probably damaging	1.00
R5030:Fbn1	UTSW	2	125,254,624 (GRCm39)	missense	possibly damaging	0.51
R5044:Fbn1	UTSW	2	125,171,022 (GRCm39)	missense	probably damaging	0.97
R5057:Fbn1	UTSW	2	125,308,615 (GRCm39)	missense	probably benign	0.33
R5115:Fbn1	UTSW	2	125,174,303 (GRCm39)	missense	probably damaging	1.00
R5399:Fbn1	UTSW	2	125,174,253 (GRCm39)	missense	possibly damaging	0.69
R5498:Fbn1	UTSW	2	125,202,096 (GRCm39)	missense	probably damaging	1.00
R5526:Fbn1	UTSW	2	125,207,559 (GRCm39)	missense	possibly damaging	0.83
R5529:Fbn1	UTSW	2	125,215,870 (GRCm39)	missense	probably benign	0.01
R5602:Fbn1	UTSW	2	125,163,661 (GRCm39)	missense	possibly damaging	0.49
R5760:Fbn1	UTSW	2	125,203,167 (GRCm39)	missense	probably damaging	1.00
R5837:Fbn1	UTSW	2	125,221,054 (GRCm39)	splice site	probably null
R5955:Fbn1	UTSW	2	125,200,802 (GRCm39)	missense	probably damaging	1.00
R5980:Fbn1	UTSW	2	125,157,324 (GRCm39)	missense	probably damaging	0.98
R6039:Fbn1	UTSW	2	125,205,800 (GRCm39)	missense	probably damaging	1.00
R6039:Fbn1	UTSW	2	125,205,800 (GRCm39)	missense	probably damaging	1.00
R6058:Fbn1	UTSW	2	125,308,532 (GRCm39)	missense	possibly damaging	0.73
R6089:Fbn1	UTSW	2	125,163,145 (GRCm39)	missense	possibly damaging	0.55
R6136:Fbn1	UTSW	2	125,245,052 (GRCm39)	missense	possibly damaging	0.63
R6161:Fbn1	UTSW	2	125,211,721 (GRCm39)	nonsense	probably null
R6162:Fbn1	UTSW	2	125,202,147 (GRCm39)	missense	probably damaging	1.00
R6165:Fbn1	UTSW	2	125,174,283 (GRCm39)	missense	probably damaging	0.99
R6169:Fbn1	UTSW	2	125,177,409 (GRCm39)	critical splice acceptor site	probably null
R6221:Fbn1	UTSW	2	125,162,841 (GRCm39)	missense	probably benign	0.07
R6223:Fbn1	UTSW	2	125,254,591 (GRCm39)	missense	possibly damaging	0.86
R6225:Fbn1	UTSW	2	125,172,463 (GRCm39)	missense	probably damaging	1.00
R6238:Fbn1	UTSW	2	125,166,865 (GRCm39)	missense	probably damaging	0.98
R6329:Fbn1	UTSW	2	125,150,393 (GRCm39)	missense	possibly damaging	0.70
R6401:Fbn1	UTSW	2	125,188,370 (GRCm39)	missense	probably damaging	0.98
R6480:Fbn1	UTSW	2	125,177,338 (GRCm39)	missense	probably benign	0.05
R6513:Fbn1	UTSW	2	125,225,591 (GRCm39)	missense	probably damaging	1.00
R6530:Fbn1	UTSW	2	125,231,190 (GRCm39)	missense	probably damaging	0.99
R6595:Fbn1	UTSW	2	125,184,750 (GRCm39)	missense	possibly damaging	0.70
R6781:Fbn1	UTSW	2	125,158,958 (GRCm39)	missense	probably damaging	1.00
R6849:Fbn1	UTSW	2	125,163,611 (GRCm39)	missense	possibly damaging	0.82
R6860:Fbn1	UTSW	2	125,170,078 (GRCm39)	missense	probably damaging	1.00
R6960:Fbn1	UTSW	2	125,223,980 (GRCm39)	missense	probably benign	0.16
R7134:Fbn1	UTSW	2	125,223,969 (GRCm39)	missense	probably benign	0.03
R7241:Fbn1	UTSW	2	125,148,415 (GRCm39)	missense	possibly damaging	0.86
R7295:Fbn1	UTSW	2	125,177,407 (GRCm39)	missense	probably damaging	1.00
R7312:Fbn1	UTSW	2	125,308,594 (GRCm39)	missense	possibly damaging	0.53
R7322:Fbn1	UTSW	2	125,321,115 (GRCm39)	missense	possibly damaging	0.92
R7349:Fbn1	UTSW	2	125,157,321 (GRCm39)	missense	possibly damaging	0.84
R7365:Fbn1	UTSW	2	125,193,969 (GRCm39)	missense	probably damaging	0.97
R7392:Fbn1	UTSW	2	125,185,844 (GRCm39)	missense	probably damaging	1.00
R7442:Fbn1	UTSW	2	125,245,132 (GRCm39)	missense	possibly damaging	0.45
R7452:Fbn1	UTSW	2	125,347,375 (GRCm39)	missense	possibly damaging	0.53
R7453:Fbn1	UTSW	2	125,162,879 (GRCm39)	missense	possibly damaging	0.93
R7457:Fbn1	UTSW	2	125,193,667 (GRCm39)	missense	possibly damaging	0.90
R7458:Fbn1	UTSW	2	125,161,036 (GRCm39)	missense	probably benign	0.14
R7549:Fbn1	UTSW	2	125,185,947 (GRCm39)	missense	probably damaging	0.99
R7570:Fbn1	UTSW	2	125,239,772 (GRCm39)	missense	probably benign	0.29
R7666:Fbn1	UTSW	2	125,148,391 (GRCm39)	missense	probably damaging	1.00
R7723:Fbn1	UTSW	2	125,223,954 (GRCm39)	nonsense	probably null
R7745:Fbn1	UTSW	2	125,145,115 (GRCm39)	missense	probably benign	0.06
R7754:Fbn1	UTSW	2	125,321,200 (GRCm39)	splice site	probably null
R7780:Fbn1	UTSW	2	125,143,678 (GRCm39)	missense	probably benign	0.15
R7849:Fbn1	UTSW	2	125,151,405 (GRCm39)	missense	probably damaging	0.98
R7927:Fbn1	UTSW	2	125,225,656 (GRCm39)	missense	possibly damaging	0.82
R7942:Fbn1	UTSW	2	125,254,706 (GRCm39)	missense	possibly damaging	0.53
R7948:Fbn1	UTSW	2	125,183,219 (GRCm39)	missense	probably damaging	1.00
R7985:Fbn1	UTSW	2	125,143,798 (GRCm39)	missense	probably benign	0.01
R8051:Fbn1	UTSW	2	125,148,383 (GRCm39)	missense	possibly damaging	0.86
R8054:Fbn1	UTSW	2	125,187,938 (GRCm39)	missense	possibly damaging	0.93
R8058:Fbn1	UTSW	2	125,193,889 (GRCm39)	missense	possibly damaging	0.46
R8113:Fbn1	UTSW	2	125,319,489 (GRCm39)	missense	probably damaging	1.00
R8307:Fbn1	UTSW	2	125,347,402 (GRCm39)	missense	possibly damaging	0.53
R8472:Fbn1	UTSW	2	125,151,722 (GRCm39)	missense	probably damaging	1.00
R8690:Fbn1	UTSW	2	125,186,015 (GRCm39)	critical splice acceptor site	probably benign
R8724:Fbn1	UTSW	2	125,202,066 (GRCm39)	missense	probably damaging	0.98
R8856:Fbn1	UTSW	2	125,156,637 (GRCm39)	missense	probably damaging	1.00
R8916:Fbn1	UTSW	2	125,245,149 (GRCm39)	missense	possibly damaging	0.63
R8931:Fbn1	UTSW	2	125,202,095 (GRCm39)	missense	probably damaging	1.00
R8988:Fbn1	UTSW	2	125,212,726 (GRCm39)	missense	possibly damaging	0.88
R9127:Fbn1	UTSW	2	125,223,985 (GRCm39)	missense	possibly damaging	0.86
R9161:Fbn1	UTSW	2	125,192,270 (GRCm39)	missense	probably damaging	1.00
R9495:Fbn1	UTSW	2	125,160,984 (GRCm39)	missense	probably damaging	0.96
R9515:Fbn1	UTSW	2	125,207,551 (GRCm39)	missense	probably benign	0.03
R9557:Fbn1	UTSW	2	125,180,458 (GRCm39)	missense	probably damaging	0.99
R9597:Fbn1	UTSW	2	125,187,906 (GRCm39)	missense	probably benign
R9680:Fbn1	UTSW	2	125,310,484 (GRCm39)	missense	probably benign	0.29
R9723:Fbn1	UTSW	2	125,202,119 (GRCm39)	nonsense	probably null
R9734:Fbn1	UTSW	2	125,231,898 (GRCm39)	missense	probably benign	0.03
R9796:Fbn1	UTSW	2	125,158,941 (GRCm39)	missense	probably benign	0.19
X0019:Fbn1	UTSW	2	125,225,563 (GRCm39)	missense	possibly damaging	0.82
X0020:Fbn1	UTSW	2	125,211,260 (GRCm39)	missense	probably damaging	1.00
X0028:Fbn1	UTSW	2	125,184,718 (GRCm39)	critical splice donor site	probably null
X0067:Fbn1	UTSW	2	125,211,834 (GRCm39)	missense	possibly damaging	0.95
Z1088:Fbn1	UTSW	2	125,192,208 (GRCm39)	missense	probably damaging	0.99
Z1176:Fbn1	UTSW	2	125,229,270 (GRCm39)	missense	possibly damaging	0.51
Z1177:Fbn1	UTSW	2	125,231,151 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGAGCTGGTAAACATCACAGG -3'
(R):5'- AGAGGAATGTTGTCCCTAGCATG -3'

Sequencing Primer
(F):5'- CTGGTAAACATCACAGGAGAGACAC -3'
(R):5'- GGAATGTTGTCCCTAGCATGATCAC -3'

Posted On

2014-06-30