Mutagenetix > Incidental Mutation

Incidental Mutation 'R5057:Fbn1'

390892

Institutional Source

Beutler Lab

Gene Symbol

Fbn1

Ensembl Gene

ENSMUSG00000027204

Gene Name

fibrillin 1

Synonyms

Fib-1

MMRRC Submission

042647-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R5057 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125142514-125348417 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125308615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 149 (V149A)

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
AA Change: V149A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000028633
Gene: ENSMUSG00000027204
AA Change: V149A

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
AA Change: V149A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099524
Gene: ENSMUSG00000027204
AA Change: V149A

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

Meta Mutation Damage Score

0.2543

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.0%

Validation Efficiency

97% (118/122)

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: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	T	11: 72,057,581 (GRCm39)	H739Q	probably benign	Het
Acad12	T	A	5: 121,748,152 (GRCm39)	T89S	probably benign	Het
Adgb	A	G	10: 10,233,722 (GRCm39)	C1252R	probably benign	Het
Ankef1	A	G	2: 136,392,280 (GRCm39)		probably null	Het
Ankfy1	T	C	11: 72,650,745 (GRCm39)	L976P	probably damaging	Het
Ankib1	T	A	5: 3,784,011 (GRCm39)	I322F	possibly damaging	Het
Ankrd61	T	A	5: 143,831,613 (GRCm39)	T64S	probably benign	Het
Anxa6	T	G	11: 54,892,062 (GRCm39)	E298A	possibly damaging	Het
Apc2	A	G	10: 80,144,903 (GRCm39)	S605G	probably damaging	Het
Arih1	T	C	9: 59,393,515 (GRCm39)	N39S	unknown	Het
Bicc1	A	G	10: 70,783,713 (GRCm39)	S393P	possibly damaging	Het
Bptf	A	T	11: 106,973,354 (GRCm39)	F693L	probably damaging	Het
Cacng4	A	G	11: 107,685,197 (GRCm39)	Y32H	probably damaging	Het
Ccdc50	T	A	16: 27,257,092 (GRCm39)	D252E	probably benign	Het
Ccdc92b	C	A	11: 74,528,976 (GRCm39)	T160K	probably damaging	Het
Cd163	C	T	6: 124,302,247 (GRCm39)	T937I	probably damaging	Het
Cdh22	C	A	2: 164,958,063 (GRCm39)	V635F	probably damaging	Het
Cenpe	G	T	3: 134,926,074 (GRCm39)	A243S	probably benign	Het
Cep295	A	T	9: 15,233,979 (GRCm39)	H2272Q	probably benign	Het
Cgnl1	A	T	9: 71,632,076 (GRCm39)	V425D	probably damaging	Het
Clec4b2	A	T	6: 123,177,915 (GRCm39)	S77C	probably null	Het
Cntnap5a	C	T	1: 115,612,943 (GRCm39)	T26I	probably benign	Het
Col6a3	T	C	1: 90,743,852 (GRCm39)	K165R	possibly damaging	Het
Copb1	A	T	7: 113,825,997 (GRCm39)	N662K	probably benign	Het
Crybg1	T	A	10: 43,865,104 (GRCm39)	R1458*	probably null	Het
Cspp1	T	A	1: 10,145,186 (GRCm39)		probably benign	Het
Dhtkd1	A	G	2: 5,924,324 (GRCm39)	C430R	probably damaging	Het
Dlg5	T	C	14: 24,186,690 (GRCm39)	E1847G	probably damaging	Het
Dync2i1	A	T	12: 116,177,033 (GRCm39)	N856K	probably benign	Het
Eif1ad16	A	T	12: 87,985,481 (GRCm39)	S21T	unknown	Het
Ephb3	A	G	16: 21,039,197 (GRCm39)	D351G	probably damaging	Het
Exd2	T	A	12: 80,543,564 (GRCm39)	N582K	probably damaging	Het
Fam161a	T	A	11: 22,970,397 (GRCm39)	C192S	probably damaging	Het
Fbxw16	A	G	9: 109,270,232 (GRCm39)	S170P	probably damaging	Het
Fndc1	T	A	17: 7,990,802 (GRCm39)	R965*	probably null	Het
Frem2	T	C	3: 53,442,617 (GRCm39)	D2640G	probably benign	Het
Gfm1	T	C	3: 67,380,877 (GRCm39)	V664A	probably damaging	Het
Gm10803	A	C	2: 93,394,517 (GRCm39)	L96F	probably damaging	Het
Gm14569	T	C	X: 35,694,470 (GRCm39)	D1413G	probably benign	Het
Gm44501	A	G	17: 40,889,563 (GRCm39)	T26A	probably benign	Het
Gpc4	G	A	X: 51,163,440 (GRCm39)	R148C	probably damaging	Het
Gpsm1	G	A	2: 26,215,369 (GRCm39)	R277Q	probably damaging	Het
Inmt	T	A	6: 55,151,883 (GRCm39)	H29L	probably benign	Het
Insrr	T	A	3: 87,722,572 (GRCm39)	C1265S	probably benign	Het
Kctd12	A	G	14: 103,219,045 (GRCm39)	F278L	possibly damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lag3	T	A	6: 124,882,318 (GRCm39)	I393F	possibly damaging	Het
Lama2	C	T	10: 27,040,982 (GRCm39)	C1447Y	probably damaging	Het
Lama3	G	A	18: 12,665,005 (GRCm39)	G2275S	probably null	Het
Lrrc17	A	T	5: 21,780,307 (GRCm39)	H427L	probably benign	Het
Med13l	T	A	5: 118,856,558 (GRCm39)	S164T	probably damaging	Het
Milr1	A	G	11: 106,657,791 (GRCm39)	D131G	possibly damaging	Het
Myo5c	A	T	9: 75,208,155 (GRCm39)	T1630S	probably damaging	Het
Nbeal2	A	T	9: 110,460,073 (GRCm39)	N1848K	probably damaging	Het
Ncor2	A	T	5: 125,125,130 (GRCm39)	V307E	possibly damaging	Het
Ndufs3	C	A	2: 90,729,004 (GRCm39)	A161S	probably benign	Het
Neo1	T	C	9: 58,897,554 (GRCm39)	D134G	probably damaging	Het
Nexmif	A	T	X: 103,130,956 (GRCm39)	N320K	probably damaging	Het
Nipal3	T	A	4: 135,194,167 (GRCm39)	I289F	probably damaging	Het
Nrg4	A	G	9: 55,189,880 (GRCm39)		probably benign	Het
Nrxn3	A	T	12: 89,221,804 (GRCm39)	I528F	probably damaging	Het
Or11h23	A	C	14: 50,948,669 (GRCm39)	N294T	probably damaging	Het
Or3a10	T	A	11: 73,935,881 (GRCm39)	D73V	probably damaging	Het
Pate2	T	C	9: 35,597,407 (GRCm39)		probably benign	Het
Pcnx2	T	C	8: 126,581,930 (GRCm39)	I935M	possibly damaging	Het
Pik3c2a	G	T	7: 115,975,518 (GRCm39)	T683K	possibly damaging	Het
Pip5k1c	G	A	10: 81,146,723 (GRCm39)		probably null	Het
Pkd1l2	G	A	8: 117,781,747 (GRCm39)	T766I	probably benign	Het
Polr3c	C	A	3: 96,619,373 (GRCm39)	L508F	probably damaging	Het
Por	A	G	5: 135,759,756 (GRCm39)	D189G	probably damaging	Het
Potefam1	A	T	2: 111,055,766 (GRCm39)	F207I	probably benign	Het
Prim2	A	T	1: 33,669,441 (GRCm39)	L178*	probably null	Het
Prima1	C	A	12: 103,168,864 (GRCm39)		probably null	Het
Ptpn21	G	A	12: 98,645,666 (GRCm39)	R1091C	probably damaging	Het
Ptpn23	G	A	9: 110,217,624 (GRCm39)	T744I	probably benign	Het
Rad21	A	T	15: 51,830,102 (GRCm39)	I503K	probably benign	Het
Rbm12	A	T	2: 155,938,806 (GRCm39)	C489S	probably benign	Het
Rpl10a	A	T	17: 28,549,607 (GRCm39)	H140L	probably benign	Het
Rpl7-ps8	A	T	15: 59,083,004 (GRCm39)		noncoding transcript	Het
Rtbdn	T	C	8: 85,681,638 (GRCm39)	F143S	probably damaging	Het
Scamp3	T	A	3: 89,089,600 (GRCm39)		probably benign	Het
Setd5	A	G	6: 113,114,922 (GRCm39)	S848G	probably damaging	Het
Sez6	T	C	11: 77,863,979 (GRCm39)	V487A	probably damaging	Het
Shc2	G	A	10: 79,459,706 (GRCm39)	P413S	probably benign	Het
Sipa1l3	T	C	7: 29,070,618 (GRCm39)	N966S	probably damaging	Het
Slc39a8	A	G	3: 135,554,790 (GRCm39)	E78G	probably benign	Het
Slc8a3	A	G	12: 81,246,332 (GRCm39)	V900A	probably damaging	Het
Slitrk3	T	C	3: 72,957,981 (GRCm39)	T264A	probably benign	Het
Spire2	G	A	8: 124,084,940 (GRCm39)	R260H	probably damaging	Het
Stk39	T	A	2: 68,051,292 (GRCm39)	I518F	probably damaging	Het
Tardbp	T	A	4: 148,703,813 (GRCm39)		probably null	Het
Tep1	A	G	14: 51,066,456 (GRCm39)	Y2335H	probably benign	Het
Tesl1	G	A	X: 23,773,480 (GRCm39)	G327E	probably damaging	Het
Tll2	A	G	19: 41,105,705 (GRCm39)	V358A	probably benign	Het
Tmem268	C	G	4: 63,486,777 (GRCm39)	S100C	probably damaging	Het
Tnfsf9	A	G	17: 57,412,444 (GRCm39)	T5A	probably benign	Het
Trappc10	G	T	10: 78,052,994 (GRCm39)	F260L	possibly damaging	Het
Trim5	A	G	7: 103,914,630 (GRCm39)	Y480H	probably damaging	Het
Trmt112	T	C	19: 6,888,121 (GRCm39)	V91A	probably benign	Het
Ttn	T	A	2: 76,577,379 (GRCm39)	K22759*	probably null	Het
Ttn	C	A	2: 76,748,988 (GRCm39)	L4020F	probably benign	Het
Ubash3b	A	G	9: 40,948,755 (GRCm39)	C187R	possibly damaging	Het
Ube3b	T	C	5: 114,544,318 (GRCm39)	F572L	probably benign	Het
Ubr5	A	G	15: 38,004,353 (GRCm39)	V1332A	probably damaging	Het
Ubtd2	C	A	11: 32,466,320 (GRCm39)	R180S	probably damaging	Het
Ubtf	A	G	11: 102,197,913 (GRCm39)	S673P	probably damaging	Het
Ubtfl1	A	T	9: 18,320,487 (GRCm39)	D5V	possibly damaging	Het
Usp17la	G	A	7: 104,510,330 (GRCm39)	V312I	possibly damaging	Het
Usp17ld	G	T	7: 102,899,655 (GRCm39)	H426N	probably benign	Het
Usp34	A	G	11: 23,408,086 (GRCm39)		probably benign	Het
Vmn1r199	A	T	13: 22,567,575 (GRCm39)	T290S	possibly damaging	Het
Vmn1r33	T	C	6: 66,589,089 (GRCm39)	N155S	probably benign	Het
Vmn2r28	T	A	7: 5,489,463 (GRCm39)	I459L	probably benign	Het
Vmn2r6	T	A	3: 64,445,207 (GRCm39)	K839N	probably damaging	Het
Vmn2r65	A	G	7: 84,589,819 (GRCm39)	I699T	probably damaging	Het
Vps16	A	G	2: 130,281,372 (GRCm39)	S235G	probably benign	Het
Vwde	T	C	6: 13,192,641 (GRCm39)	I421V	possibly damaging	Het
Xiap	T	C	X: 41,183,342 (GRCm39)	F23L	probably benign	Het
Xkr7	A	G	2: 152,896,300 (GRCm39)	T385A	probably benign	Het
Znfx1	T	C	2: 166,881,746 (GRCm39)	Y217C	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
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
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'- TAGCTGCACACACTCGATG -3'
(R):5'- AAAGCATTTCTCAGGGGCTG -3'

Sequencing Primer
(F):5'- TCGATGACAATATAAACCAGTAACAG -3'
(R):5'- ATTTCTCAGGGGCTGCACAC -3'

Posted On

2016-06-06