Incidental Mutation 'R1772:Fbn1'
ID 196659
Institutional Source Beutler Lab
Gene Symbol Fbn1
Ensembl Gene ENSMUSG00000027204
Gene Name fibrillin 1
Synonyms Fib-1
MMRRC Submission 039803-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.916) question?
Stock # R1772 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 125142514-125348417 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 125245148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 246 (D246E)
Ref Sequence ENSEMBL: ENSMUSP00000099524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028633] [ENSMUST00000103234]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000028633
AA Change: D246E

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028633
Gene: ENSMUSG00000027204
AA Change: D246E

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000103234
AA Change: D246E

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099524
Gene: ENSMUSG00000027204
AA Change: D246E

DomainStartEndE-ValueType
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 0.3752 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.5%
Validation Efficiency 97% (107/110)
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: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb G T 10: 10,258,465 (GRCm39) probably benign Het
Aldh1a7 T C 19: 20,693,383 (GRCm39) K179E probably damaging Het
Angptl7 G A 4: 148,581,883 (GRCm39) R168C probably damaging Het
Atp8b1 T A 18: 64,706,563 (GRCm39) I208F possibly damaging Het
Bco1 A G 8: 117,857,347 (GRCm39) Y438C probably benign Het
Bltp1 T C 3: 37,013,581 (GRCm39) S1937P probably damaging Het
Btrc A C 19: 45,501,100 (GRCm39) K218Q probably damaging Het
Cct8l1 G A 5: 25,722,697 (GRCm39) V471M probably damaging Het
Cd180 C T 13: 102,842,750 (GRCm39) L599F probably benign Het
Cd300e T C 11: 114,945,344 (GRCm39) N150S probably benign Het
Clcn1 C A 6: 42,271,079 (GRCm39) T281K probably damaging Het
Cnnm3 T C 1: 36,558,038 (GRCm39) S417P probably damaging Het
Cspg4 T A 9: 56,804,776 (GRCm39) S1862R probably benign Het
Cspg5 A T 9: 110,091,206 (GRCm39) N432Y probably damaging Het
Cyp2r1 T A 7: 114,152,451 (GRCm39) I169F probably damaging Het
D130043K22Rik T A 13: 25,059,982 (GRCm39) S618T probably damaging Het
Diaph3 G A 14: 87,202,985 (GRCm39) P635L probably damaging Het
Dlg1 A G 16: 31,484,485 (GRCm39) I38V possibly damaging Het
Dlk1 T G 12: 109,425,685 (GRCm39) V186G probably damaging Het
Dmxl2 T C 9: 54,330,508 (GRCm39) probably benign Het
Dnajc17 G A 2: 119,014,164 (GRCm39) R132* probably null Het
Dock9 G T 14: 121,847,210 (GRCm39) N1042K probably benign Het
Dok7 A T 5: 35,243,994 (GRCm39) Q511L probably damaging Het
Espnl G A 1: 91,272,325 (GRCm39) E562K possibly damaging Het
Evi5 G A 5: 107,943,707 (GRCm39) T562I probably benign Het
Exd2 T A 12: 80,536,253 (GRCm39) D294E probably benign Het
Fbxw16 A T 9: 109,268,650 (GRCm39) W247R possibly damaging Het
Fcer1a A G 1: 173,053,004 (GRCm39) I64T probably benign Het
Fcgbp C A 7: 27,804,600 (GRCm39) Q1903K possibly damaging Het
Fmn1 A G 2: 113,195,700 (GRCm39) S467G unknown Het
Fndc7 T A 3: 108,777,850 (GRCm39) T369S probably damaging Het
Fnta T C 8: 26,490,994 (GRCm39) probably benign Het
Gak A T 5: 108,754,758 (GRCm39) H289Q probably damaging Het
Gas2l3 A G 10: 89,252,876 (GRCm39) probably benign Het
Gbp8 T C 5: 105,163,987 (GRCm39) N437S probably benign Het
Gk5 G A 9: 96,032,850 (GRCm39) probably null Het
Hid1 A T 11: 115,239,299 (GRCm39) V788E probably damaging Het
Hmcn1 T C 1: 150,439,319 (GRCm39) T5505A probably damaging Het
Igf1r T A 7: 67,844,822 (GRCm39) M865K probably benign Het
Katnal2 G A 18: 77,090,233 (GRCm39) T258I probably damaging Het
Kdm3b A T 18: 34,936,557 (GRCm39) I280L probably benign Het
Kif24 A G 4: 41,409,787 (GRCm39) V382A probably damaging Het
Kif2a A T 13: 107,114,640 (GRCm39) probably benign Het
Klhl10 A G 11: 100,333,022 (GRCm39) I56V probably benign Het
Klk6 C T 7: 43,478,695 (GRCm39) Q201* probably null Het
Klra3 A T 6: 130,300,671 (GRCm39) S233T probably benign Het
Krt9 A T 11: 100,082,131 (GRCm39) M223K probably damaging Het
Lama4 G A 10: 38,936,220 (GRCm39) E632K probably benign Het
Lamb1 T C 12: 31,328,524 (GRCm39) Y163H probably damaging Het
Lipo3 A G 19: 33,764,821 (GRCm39) I11T probably benign Het
Lix1l T A 3: 96,531,207 (GRCm39) H333Q possibly damaging Het
Mal2 T A 15: 54,451,783 (GRCm39) M68K probably damaging Het
Map2k2 T C 10: 80,956,934 (GRCm39) I104T probably damaging Het
Matn2 T C 15: 34,428,931 (GRCm39) V765A probably damaging Het
Mptx2 T A 1: 173,102,040 (GRCm39) K216N probably damaging Het
Mup5 C T 4: 61,750,578 (GRCm39) probably null Het
Mycbp2 A G 14: 103,419,855 (GRCm39) Y2494H probably damaging Het
Myh3 G A 11: 66,990,220 (GRCm39) D1622N probably benign Het
Myo6 T C 9: 80,177,331 (GRCm39) I609T possibly damaging Het
Ndst1 G A 18: 60,835,909 (GRCm39) T458I probably damaging Het
Neb A T 2: 52,125,689 (GRCm39) Y3622N probably damaging Het
Ntm A G 9: 29,090,396 (GRCm39) Y108H probably benign Het
Or13c3 T G 4: 52,855,730 (GRCm39) K261T probably benign Het
Or1a1b T C 11: 74,097,398 (GRCm39) I215V probably benign Het
Or52e19 T C 7: 102,959,449 (GRCm39) Y174H possibly damaging Het
Pappa2 T A 1: 158,641,938 (GRCm39) I1373F possibly damaging Het
Pear1 A G 3: 87,661,799 (GRCm39) probably benign Het
Phc3 C T 3: 31,015,969 (GRCm39) A81T probably damaging Het
Pmepa1 A G 2: 173,076,153 (GRCm39) S105P probably damaging Het
Ppp6r1 T C 7: 4,645,030 (GRCm39) I248V probably benign Het
Prdm4 G A 10: 85,729,256 (GRCm39) T717I probably damaging Het
Prom1 T C 5: 44,168,566 (GRCm39) T669A probably benign Het
Ptpn5 T A 7: 46,740,516 (GRCm39) I96F probably benign Het
Ptpro T C 6: 137,407,741 (GRCm39) L922P probably damaging Het
Reck A T 4: 43,890,982 (GRCm39) H40L probably benign Het
Rreb1 T A 13: 38,114,899 (GRCm39) C753S probably benign Het
Sacs T C 14: 61,448,346 (GRCm39) L3464P probably damaging Het
Samsn1 A T 16: 75,667,663 (GRCm39) D304E probably benign Het
Scgb2b3 T C 7: 31,059,621 (GRCm39) N51S possibly damaging Het
Shroom3 T C 5: 93,088,515 (GRCm39) S341P probably damaging Het
Siglece T C 7: 43,308,717 (GRCm39) D212G probably damaging Het
Sirpa A G 2: 129,458,376 (GRCm39) T331A probably damaging Het
Spata21 T C 4: 140,838,607 (GRCm39) S553P possibly damaging Het
Speer4b T A 5: 27,705,236 (GRCm39) probably benign Het
Srgap2 T C 1: 131,247,376 (GRCm39) D552G probably damaging Het
Stab2 A G 10: 86,790,098 (GRCm39) I556T probably benign Het
Strip1 C T 3: 107,534,047 (GRCm39) probably null Het
Stxbp6 T A 12: 44,949,653 (GRCm39) D92V probably damaging Het
Styx A G 14: 45,594,215 (GRCm39) K46E probably damaging Het
Supt20 T A 3: 54,617,841 (GRCm39) V314E probably damaging Het
Syne2 T A 12: 75,985,503 (GRCm39) D1650E probably benign Het
Szt2 T A 4: 118,262,714 (GRCm39) K21M probably damaging Het
Tbx4 A T 11: 85,802,033 (GRCm39) H222L probably damaging Het
Tcstv1b T A 13: 120,634,725 (GRCm39) D2E probably benign Het
Tmx3 A T 18: 90,551,121 (GRCm39) I254L probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpv2 A T 11: 62,485,052 (GRCm39) probably benign Het
Ubap2 A G 4: 41,202,380 (GRCm39) S683P probably benign Het
Ube2d3 C T 3: 135,170,972 (GRCm39) R139W probably benign Het
Ubox5 G T 2: 130,433,794 (GRCm39) Q518K probably benign Het
Usp42 T C 5: 143,702,857 (GRCm39) N588S probably damaging Het
Vars2 G A 17: 35,970,976 (GRCm39) T618M probably damaging Het
Wfdc17 A T 11: 83,595,730 (GRCm39) N65Y probably damaging Het
Zbtb38 G A 9: 96,570,094 (GRCm39) P330L probably damaging Het
Zfp385a C T 15: 103,224,308 (GRCm39) probably null Het
Zfp637 T A 6: 117,822,373 (GRCm39) L167H probably damaging Het
Other mutations in Fbn1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GCTGCAAACCATGAGGTTGCTTAC -3'
(R):5'- GGCCCTGATGAACTTTTCCTGCAC -3'

Sequencing Primer
(F):5'- ACCATGAGGTTGCTTACCTTCAC -3'
(R):5'- TGTGTATGATGAAGCCCCAC -3'
Posted On 2014-05-23