Mutagenetix > Incidental Mutation

Incidental Mutation 'R7849:Fbn1'

606781

Institutional Source

Beutler Lab

Gene Symbol

Fbn1

Ensembl Gene

ENSMUSG00000027204

Gene Name

fibrillin 1

Synonyms

Fib-1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.916) question?

Stock #

R7849 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

125142514-125348417 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125151405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 2534 (I2534N)

Ref Sequence

ENSEMBL: ENSMUSP00000028633 (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: I2534N

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028633
Gene: ENSMUSG00000027204
AA Change: I2534N

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: I2534N

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099524
Gene: ENSMUSG00000027204
AA Change: I2534N

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap1	T	C	1: 89,558,141 (GRCm39)	V143A	probably damaging	Het
Agmo	A	G	12: 37,292,044 (GRCm39)	R2G	probably benign	Het
Alms1	A	T	6: 85,598,479 (GRCm39)	I1102L	possibly damaging	Het
Ankrd13a	T	C	5: 114,929,343 (GRCm39)	I140T	possibly damaging	Het
Arhgef10l	T	A	4: 140,311,245 (GRCm39)		probably null	Het
Atxn2l	A	T	7: 126,092,345 (GRCm39)	H967Q	possibly damaging	Het
B3galnt2	A	T	13: 14,169,077 (GRCm39)	N370I	probably benign	Het
Bltp1	T	A	3: 37,080,477 (GRCm39)	I325N		Het
Cacna1e	C	T	1: 154,509,464 (GRCm39)	D264N	probably damaging	Het
Ccdc112	A	T	18: 46,429,390 (GRCm39)	Y103N	probably benign	Het
Ccdc68	A	C	18: 70,080,246 (GRCm39)	E197A	probably damaging	Het
Cdr1	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	X: 60,228,130 (GRCm39)		probably benign	Het
Cntn3	T	C	6: 102,242,392 (GRCm39)	M418V	probably benign	Het
Cpne4	T	A	9: 104,563,718 (GRCm39)	C32S	probably damaging	Het
Csf2rb2	A	T	15: 78,168,621 (GRCm39)	S845T	probably benign	Het
Ctnnd2	T	G	15: 31,027,733 (GRCm39)	V1219G	probably damaging	Het
Cyp4f14	G	A	17: 33,128,325 (GRCm39)	A230V	probably benign	Het
Cyth1	TGGGCAA	T	11: 118,074,749 (GRCm39)		probably null	Het
Dmxl1	T	A	18: 50,094,214 (GRCm39)	C2897S	probably benign	Het
Elavl2	T	A	4: 91,260,280 (GRCm39)		probably benign	Het
Elp1	A	T	4: 56,758,968 (GRCm39)	S1191T	possibly damaging	Het
Fam135a	T	C	1: 24,083,331 (GRCm39)	E298G	probably damaging	Het
Fibin	A	G	2: 110,192,825 (GRCm39)	S106P	probably damaging	Het
Fndc3a	C	T	14: 72,802,100 (GRCm39)	V568M	probably benign	Het
Frem2	A	G	3: 53,479,795 (GRCm39)	F1966S	probably damaging	Het
Gata4	T	G	14: 63,442,174 (GRCm39)	E216A	possibly damaging	Het
Gmps	T	A	3: 63,922,984 (GRCm39)	V649E	probably benign	Het
Golga4	A	T	9: 118,388,379 (GRCm39)	N1834Y	possibly damaging	Het
Gpr89	A	T	3: 96,778,806 (GRCm39)	Y422*	probably null	Het
Gzmc	A	T	14: 56,469,829 (GRCm39)	F157Y	probably benign	Het
Hdhd2	A	G	18: 77,052,962 (GRCm39)	D204G	probably damaging	Het
Hspa4	T	G	11: 53,171,530 (GRCm39)	T225P	possibly damaging	Het
Klhl30	T	A	1: 91,287,059 (GRCm39)	D448E	probably benign	Het
Kptn	A	G	7: 15,853,966 (GRCm39)	Y28C	probably damaging	Het
Krt10	A	T	11: 99,278,432 (GRCm39)	N242K	probably damaging	Het
Krt6b	A	T	15: 101,587,009 (GRCm39)	N254K	probably damaging	Het
Lama5	G	T	2: 179,843,605 (GRCm39)	D447E	probably damaging	Het
Lgr6	T	C	1: 134,915,419 (GRCm39)	Y720C	probably damaging	Het
Macf1	G	C	4: 123,301,392 (GRCm39)	P1037A	probably benign	Het
Map3k19	C	T	1: 127,751,383 (GRCm39)	G656D	probably benign	Het
Mroh7	A	C	4: 106,578,287 (GRCm39)	N130K	probably benign	Het
Muc16	T	C	9: 18,551,801 (GRCm39)	T4831A	probably benign	Het
Nfkb1	A	T	3: 135,291,173 (GRCm39)	L533H		Het
Oaf	G	A	9: 43,134,077 (GRCm39)	R215C	probably damaging	Het
Or4x11	A	G	2: 89,867,626 (GRCm39)	Y121C	probably damaging	Het
Or51k1	C	A	7: 103,661,510 (GRCm39)	R133L	possibly damaging	Het
Or5m3b	G	A	2: 85,871,949 (GRCm39)	V97I	probably benign	Het
Or8a1	A	G	9: 37,642,003 (GRCm39)	I92T	probably damaging	Het
Or8g2b	A	G	9: 39,751,618 (GRCm39)	D296G	possibly damaging	Het
Otub1	T	C	19: 7,177,425 (GRCm39)	D74G	probably damaging	Het
Oxct2b	A	G	4: 123,010,680 (GRCm39)	E200G	probably damaging	Het
Pcdh1	T	C	18: 38,322,662 (GRCm39)	D1057G	probably benign	Het
Pkd1	T	A	17: 24,805,174 (GRCm39)	V3242E	probably damaging	Het
Pkd1l3	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	CCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACACAGGTGACATCAGACACACCTGCATCCAATAGCCCACCACAGGGGACATCAGACACACCTGGATTCAGCAGCCCAACACAGGTGACAACAGCCACACTTGTATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGACACATCTGCATCCATCAGCCCACCACAGGTAATATCAGACACACCTGCATCCAGCAGCCCACCACAGGTGACATCAGAGACACCTGCATCCAGCAGCCCAACA	8: 110,350,420 (GRCm39)		probably benign	Het
Pla2g4e	T	A	2: 120,015,803 (GRCm39)	D247V	probably benign	Het
Pole	T	A	5: 110,480,414 (GRCm39)	M1995K	probably benign	Het
Ppargc1a	T	C	5: 51,705,855 (GRCm39)	E76G	probably benign	Het
Pten	G	T	19: 32,777,396 (GRCm39)	R130L	probably damaging	Het
Ptprj	A	T	2: 90,274,804 (GRCm39)	V1186D	probably damaging	Het
Rab4a	T	A	8: 124,532,876 (GRCm39)	M1K	probably null	Het
Rapgef3	C	A	15: 97,656,271 (GRCm39)		probably null	Het
Rarb	C	A	14: 16,548,473 (GRCm38)	V83F	probably damaging	Het
Rgs22	A	T	15: 36,099,858 (GRCm39)	F410I	probably damaging	Het
Rhpn2	A	C	7: 35,080,912 (GRCm39)	E459A	probably benign	Het
Rims4	A	T	2: 163,705,974 (GRCm39)	L220Q	probably damaging	Het
Robo2	T	C	16: 73,770,132 (GRCm39)	T531A	possibly damaging	Het
Sbf2	T	C	7: 109,971,717 (GRCm39)	H839R	probably damaging	Het
Setbp1	T	C	18: 78,900,068 (GRCm39)	R1200G	probably benign	Het
Slc12a8	C	A	16: 33,444,930 (GRCm39)	P275T	probably damaging	Het
Slc23a1	G	T	18: 35,757,554 (GRCm39)	T239N	probably benign	Het
Slc37a3	T	A	6: 39,341,517 (GRCm39)	T40S	possibly damaging	Het
Speer4c1	T	C	5: 15,915,925 (GRCm39)		probably null	Het
Tet1	A	T	10: 62,655,252 (GRCm39)	H1556Q	possibly damaging	Het
Tfcp2l1	T	A	1: 118,603,325 (GRCm39)	D454E	probably damaging	Het
Timd6	T	A	11: 46,468,058 (GRCm39)	I44K	not run	Het
Tmem123	A	T	9: 7,790,890 (GRCm39)	M64L	probably benign	Het
Tmem62	A	T	2: 120,814,853 (GRCm39)	H172L	probably benign	Het
Trim15	T	G	17: 37,177,764 (GRCm39)	Y77S	probably benign	Het
Trim37	T	A	11: 87,092,270 (GRCm39)	V693E	possibly damaging	Het
Trim65	A	G	11: 116,017,082 (GRCm39)	L460S	probably damaging	Het
Ttc39a	T	C	4: 109,279,687 (GRCm39)	V109A	probably benign	Het
Ttc7	A	G	17: 87,600,374 (GRCm39)	M163V	probably null	Het
Vps13b	T	C	15: 35,423,378 (GRCm39)	S233P	probably damaging	Het
Vwf	T	C	6: 125,633,766 (GRCm39)	L2084P		Het
Wasl	A	G	6: 24,633,922 (GRCm39)	V114A	possibly damaging	Het
Wdr5	A	G	2: 27,409,463 (GRCm39)	S62G	probably damaging	Het
Wfdc11	G	T	2: 164,507,445 (GRCm39)	S4*	probably null	Het
Wfikkn2	C	A	11: 94,129,810 (GRCm39)	M110I	probably benign	Het
Wiz	T	G	17: 32,576,760 (GRCm39)	E588A	probably benign	Het
Xylt1	A	G	7: 117,255,891 (GRCm39)	H821R	probably benign	Het
Zbtb7c	A	T	18: 76,278,772 (GRCm39)	H410L	probably benign	Het
Zc3h18	T	A	8: 123,110,710 (GRCm39)	D186E	probably damaging	Het
Zfp687	G	T	3: 94,917,673 (GRCm39)	L700I	possibly damaging	Het
Zmym2	T	A	14: 57,184,020 (GRCm39)	M994K	probably benign	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
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
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'- TGACAGCCACATACGCTATCTC -3'
(R):5'- TTCCGGTTCTGGTTAGAGACTC -3'

Sequencing Primer
(F):5'- ACGCTATCTCTACAAGGAGCTTCTAG -3'
(R):5'- ACACCATGTTCAGCGTATGG -3'

Posted On

2019-12-20