Mutagenetix > Incidental Mutation

Incidental Mutation 'R4785:Fbn1'

366918

Institutional Source

Beutler Lab

Gene Symbol

Fbn1

Ensembl Gene

ENSMUSG00000027204

Gene Name

fibrillin 1

Synonyms

Fib-1

MMRRC Submission

042417-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.916) question?

Stock #

R4785 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125142514-125348417 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125166839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 2026 (C2026S)

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: C2026S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028633
Gene: ENSMUSG00000027204
AA Change: C2026S

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: C2026S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099524
Gene: ENSMUSG00000027204
AA Change: C2026S

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

0.9577

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

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: 145 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	T	C	13: 59,839,406 (GRCm39)	D13G	probably benign	Het
4930442H23Rik	C	T	10: 81,018,978 (GRCm39)		probably benign	Het
Adamts13	T	A	2: 26,873,054 (GRCm39)	S341T	probably damaging	Het
Adamts2	A	G	11: 50,683,549 (GRCm39)	I944V	probably benign	Het
Adcy3	A	G	12: 4,256,542 (GRCm39)	T783A	probably benign	Het
Ago3	A	T	4: 126,262,296 (GRCm39)	M418K	probably benign	Het
Alpk1	G	T	3: 127,481,241 (GRCm39)	N175K	possibly damaging	Het
Als2	A	G	1: 59,254,472 (GRCm39)	V295A	probably benign	Het
Anapc13	T	C	9: 102,507,020 (GRCm39)	I11T	probably benign	Het
Ankrd12	T	A	17: 66,289,994 (GRCm39)	N1813I	probably damaging	Het
Anks1b	A	T	10: 90,750,612 (GRCm39)	I176F	probably null	Het
Ap3d1	TTCTCTCTCTCTCTCTCT	TTCTCTCTCTCTCTCT	10: 80,548,612 (GRCm39)		probably null	Het
Arhgap32	T	C	9: 32,172,076 (GRCm39)	C1619R	probably damaging	Het
Arhgap32	A	G	9: 32,040,949 (GRCm39)	D67G	probably damaging	Het
Atp1a4	A	T	1: 172,081,677 (GRCm39)	Y158*	probably null	Het
Atp8b5	A	T	4: 43,356,980 (GRCm39)	D576V	probably damaging	Het
Atrnl1	A	G	19: 57,617,590 (GRCm39)	I122V	probably damaging	Het
B430203G13Rik	A	T	12: 17,974,520 (GRCm39)		noncoding transcript	Het
Baz1b	T	G	5: 135,246,267 (GRCm39)	L572R	possibly damaging	Het
Ccn3	A	T	15: 54,615,603 (GRCm39)		probably null	Het
Ccnd2	T	C	6: 127,125,761 (GRCm39)	T92A	possibly damaging	Het
Ccndbp1	A	T	2: 120,839,003 (GRCm39)	T5S	probably benign	Het
Ccr2	G	A	9: 123,906,409 (GRCm39)	V230I	probably benign	Het
Cct4	T	A	11: 22,952,866 (GRCm39)	V514E	probably damaging	Het
Cep152	A	G	2: 125,428,249 (GRCm39)		probably null	Het
Cflar	C	T	1: 58,791,726 (GRCm39)	T343M	probably benign	Het
Chrm5	A	C	2: 112,309,930 (GRCm39)	N395K	probably benign	Het
Chrna10	G	A	7: 101,762,426 (GRCm39)	P255S	possibly damaging	Het
Chrna6	T	A	8: 27,897,134 (GRCm39)	I248F	probably damaging	Het
Clip1	T	C	5: 123,717,356 (GRCm39)	D1387G	probably damaging	Het
Clstn3	T	C	6: 124,414,331 (GRCm39)		probably null	Het
Cntnap5a	C	T	1: 116,029,295 (GRCm39)	R250W	probably benign	Het
Col12a1	C	A	9: 79,585,776 (GRCm39)	V1228F	possibly damaging	Het
Cxcr5	T	C	9: 44,424,638 (GRCm39)	T340A	probably benign	Het
Cyp2a4	G	A	7: 26,012,300 (GRCm39)	R361K	probably damaging	Het
Dnah1	T	A	14: 30,985,436 (GRCm39)	K3818N	probably damaging	Het
Dnah3	T	A	7: 119,567,047 (GRCm39)	K2393M	probably benign	Het
Dpy19l1	A	T	9: 24,336,119 (GRCm39)	L529Q	probably damaging	Het
Eif4g2	C	T	7: 110,676,003 (GRCm39)	R399H	probably damaging	Het
Elapor1	A	T	3: 108,365,543 (GRCm39)		probably benign	Het
Fam76a	A	T	4: 132,629,428 (GRCm39)		probably null	Het
Fam76a	A	G	4: 132,643,501 (GRCm39)	Y78H	probably damaging	Het
Fbxo4	T	C	15: 3,998,523 (GRCm39)	T312A	probably benign	Het
Fbxw26	A	G	9: 109,553,868 (GRCm39)	V257A	possibly damaging	Het
Fhip1a	G	T	3: 85,595,877 (GRCm39)	T115K	probably damaging	Het
Flnb	A	T	14: 7,905,701 (GRCm38)	E1150D	probably benign	Het
Fndc3c1	A	T	X: 105,481,308 (GRCm39)	S661R	possibly damaging	Het
Gba2	A	C	4: 43,568,315 (GRCm39)	L684R	probably damaging	Het
Gbf1	G	T	19: 46,256,834 (GRCm39)	C812F	possibly damaging	Het
Glt8d2	A	T	10: 82,496,583 (GRCm39)	D158E	probably damaging	Het
Golga2	T	A	2: 32,187,168 (GRCm39)	N89K	probably damaging	Het
Got1	A	G	19: 43,491,376 (GRCm39)	I358T	possibly damaging	Het
Gpx6	C	T	13: 21,496,434 (GRCm39)	Q3*	probably null	Het
Grin1	T	A	2: 25,182,393 (GRCm39)	H956L	possibly damaging	Het
Grin2d	A	G	7: 45,506,205 (GRCm39)	V562A	probably damaging	Het
Grm6	A	G	11: 50,748,104 (GRCm39)	I405V	probably benign	Het
Hcar2	C	G	5: 124,002,513 (GRCm39)	G330A	probably benign	Het
Hcfc1	T	C	X: 73,009,552 (GRCm39)	K20E	probably damaging	Het
Iars1	T	A	13: 49,878,139 (GRCm39)	Y888N	probably damaging	Het
Ifi206	A	T	1: 173,308,432 (GRCm39)	H521Q	probably benign	Het
Impg1	A	G	9: 80,305,732 (GRCm39)	S112P	probably benign	Het
Incenp	C	A	19: 9,855,054 (GRCm39)	R619M	unknown	Het
Incenp	T	A	19: 9,855,055 (GRCm39)	R619W	unknown	Het
Kat2b	A	G	17: 53,960,231 (GRCm39)	E513G	possibly damaging	Het
Kbtbd12	G	T	6: 88,595,003 (GRCm39)	L276I	probably damaging	Het
Kctd9	T	A	14: 67,971,613 (GRCm39)	D229E	probably damaging	Het
Kdm1b	C	T	13: 47,216,553 (GRCm39)	R308W	probably damaging	Het
Kif2b	G	A	11: 91,467,254 (GRCm39)	P343L	probably benign	Het
Kntc1	T	G	5: 123,954,825 (GRCm39)	M2081R	possibly damaging	Het
Lamc1	T	C	1: 153,107,486 (GRCm39)	N1231S	probably damaging	Het
Lclat1	T	A	17: 73,547,065 (GRCm39)	Y327*	probably null	Het
Lgals3bp	G	A	11: 118,284,340 (GRCm39)	T413I	probably damaging	Het
Lin54	A	G	5: 100,607,597 (GRCm39)	I250T	probably damaging	Het
Lrp1	T	C	10: 127,394,002 (GRCm39)	N2621S	probably benign	Het
Lrrtm3	T	A	10: 63,923,781 (GRCm39)	H462L	probably benign	Het
Lysmd1	A	G	3: 95,042,297 (GRCm39)	Y57C	probably damaging	Het
Mccc1	C	A	3: 36,030,022 (GRCm39)	M429I	probably damaging	Het
Metrnl	A	G	11: 121,598,750 (GRCm39)	E40G	probably benign	Het
Mios	T	A	6: 8,222,464 (GRCm39)	M466K	probably benign	Het
Mrgpra1	A	G	7: 46,985,218 (GRCm39)	S154P	probably damaging	Het
Mrpl24	T	C	3: 87,829,357 (GRCm39)		probably null	Het
Myo1f	A	G	17: 33,817,165 (GRCm39)	N736S	possibly damaging	Het
Myo1h	A	G	5: 114,498,660 (GRCm39)	I919V	possibly damaging	Het
Nampt	T	C	12: 32,898,713 (GRCm39)	L443P	possibly damaging	Het
Ndufaf2	C	G	13: 108,189,314 (GRCm39)	A145P	probably damaging	Het
Nek10	A	T	14: 14,855,714 (GRCm38)	T403S	probably benign	Het
Nme8	C	A	13: 19,842,100 (GRCm39)	V219L	probably damaging	Het
Nps	T	A	7: 134,870,517 (GRCm39)	L13Q	probably damaging	Het
Nutm1	G	A	2: 112,079,281 (GRCm39)	A878V	probably benign	Het
Ogdh	T	C	11: 6,299,875 (GRCm39)	F794L	probably damaging	Het
Or14a259	C	A	7: 86,012,943 (GRCm39)	G201C	probably damaging	Het
Or14c39	T	C	7: 86,343,736 (GRCm39)	L24P	probably damaging	Het
Or2t35	A	C	14: 14,407,729 (GRCm38)	Y167S	possibly damaging	Het
Or4f56	A	T	2: 111,703,395 (GRCm39)	D268E	possibly damaging	Het
Or5a3	A	T	19: 12,400,341 (GRCm39)	I223F	probably damaging	Het
Or5g29	A	G	2: 85,421,282 (GRCm39)	T133A	probably benign	Het
Pik3cg	T	C	12: 32,255,198 (GRCm39)	E263G	probably damaging	Het
Pikfyve	A	G	1: 65,307,005 (GRCm39)	T1798A	probably benign	Het
Poldip3	T	C	15: 83,015,702 (GRCm39)	Y305C	probably damaging	Het
Prkdc	T	C	16: 15,466,840 (GRCm39)	I107T	probably benign	Het
Prmt2	A	G	10: 76,062,055 (GRCm39)	I50T	probably damaging	Het
Ptprd	T	C	4: 76,058,790 (GRCm39)	T168A	probably benign	Het
Pudp	A	G	18: 50,701,136 (GRCm39)	V199A	probably damaging	Het
Rab3c	T	C	13: 110,198,434 (GRCm39)	E198G	probably benign	Het
Rasl12	A	G	9: 65,320,730 (GRCm39)	Y156C	probably damaging	Het
Rbm12	T	C	2: 155,938,484 (GRCm39)	D596G	possibly damaging	Het
Rbm6	T	C	9: 107,664,551 (GRCm39)	E694G	probably benign	Het
Rif1	T	C	2: 52,002,759 (GRCm39)	V2071A	probably damaging	Het
Ripply2	A	T	9: 86,901,849 (GRCm39)	N125I	probably damaging	Het
Rps6kc1	A	T	1: 190,482,385 (GRCm39)	H284Q	probably benign	Het
Scara3	A	T	14: 66,190,950 (GRCm39)	M1K	probably null	Het
Sfswap	A	G	5: 129,590,147 (GRCm39)	T215A	probably damaging	Het
Shroom2	A	C	X: 151,443,903 (GRCm39)	F421V	probably benign	Het
Sipa1l3	A	G	7: 29,077,066 (GRCm39)	V902A	probably damaging	Het
Slamf8	G	T	1: 172,411,781 (GRCm39)	P238Q	probably damaging	Het
Slc44a3	T	C	3: 121,320,723 (GRCm39)	T93A	possibly damaging	Het
Slc5a7	A	T	17: 54,585,728 (GRCm39)	I363N	probably damaging	Het
Slc66a1	G	T	4: 139,027,312 (GRCm39)	H343Q	probably benign	Het
Slc7a2	T	A	8: 41,364,095 (GRCm39)	M436K	probably benign	Het
Spindoc	A	G	19: 7,351,456 (GRCm39)	S223P	probably benign	Het
Stk11ip	T	C	1: 75,506,925 (GRCm39)	F669L	possibly damaging	Het
Sun3	G	A	11: 8,988,266 (GRCm39)	L19F	probably benign	Het
Sycp1	C	A	3: 102,760,805 (GRCm39)	A703S	possibly damaging	Het
Tas2r139	T	G	6: 42,118,218 (GRCm39)	F117V	probably damaging	Het
Tdrd6	T	C	17: 43,936,467 (GRCm39)	Y1527C	probably damaging	Het
Tenm4	A	C	7: 96,423,253 (GRCm39)	K683Q	probably damaging	Het
Tfeb	T	A	17: 48,099,152 (GRCm39)		probably null	Het
Tmco4	T	C	4: 138,725,350 (GRCm39)	S121P	probably damaging	Het
Tmprss11d	C	T	5: 86,454,140 (GRCm39)	V222M	probably damaging	Het
Tnks1bp1	T	C	2: 84,893,378 (GRCm39)	W440R	probably damaging	Het
Trp53bp2	A	G	1: 182,276,562 (GRCm39)	T848A	probably benign	Het
Tssk1	G	A	16: 17,712,926 (GRCm39)	R237H	probably benign	Het
Ttll4	A	T	1: 74,718,166 (GRCm39)	T6S	possibly damaging	Het
Ttn	G	T	2: 76,552,141 (GRCm39)	Y29419*	probably null	Het
Ttn	A	G	2: 76,599,947 (GRCm39)	Y19076H	probably damaging	Het
Ubr3	T	A	2: 69,789,947 (GRCm39)	V867D	probably damaging	Het
Usp29	A	G	7: 6,964,390 (GRCm39)	T78A	probably damaging	Het
Utrn	T	G	10: 12,530,489 (GRCm39)	Q2108P	probably benign	Het
Vcan	T	C	13: 89,853,908 (GRCm39)	N351D	probably damaging	Het
Vmn1r61	A	T	7: 5,614,124 (GRCm39)	Y63*	probably null	Het
Vmn1r61	A	T	7: 5,614,126 (GRCm39)	Y63N	probably benign	Het
Vmn1r85	A	T	7: 12,818,788 (GRCm39)	W119R	probably damaging	Het
Zbtb21	A	C	16: 97,751,655 (GRCm39)	V190G	possibly damaging	Het
Zfp157	C	A	5: 138,443,051 (GRCm39)	T14N	probably damaging	Het
Zfp942	A	T	17: 22,148,400 (GRCm39)	H76Q	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
R1894:Fbn1	UTSW	2	125,236,541 (GRCm39)	missense	probably damaging	0.96
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
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'- AAAGACTCAGAGCTTCGCC -3'
(R):5'- CGTAGGAGGCTCTAAGAGATTCC -3'

Sequencing Primer
(F):5'- CTCAGAGCTTCGCCATGTTTAAAAC -3'
(R):5'- GAGGCTCTAAGAGATTCCATTTTTAC -3'

Posted On

2015-12-29