Incidental Mutation 'IGL03288:Fbn1'
ID 415805
Institutional Source Australian Phenomics Network (link to record)
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 # IGL03288
Quality Score
Status
Chromosome 2
Chromosomal Location 125142514-125348417 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 125145103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 2712 (L2712Q)
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: L2712Q

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000028633
Gene: ENSMUSG00000027204
AA Change: L2712Q

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 probably benign
Transcript: ENSMUST00000103234
AA Change: L2712Q

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099524
Gene: ENSMUSG00000027204
AA Change: L2712Q

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
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap2 T C 5: 62,761,959 (GRCm39) K1589R probably benign Het
Armc3 T C 2: 19,240,293 (GRCm39) F17L probably damaging Het
Ccdc17 T A 4: 116,456,626 (GRCm39) L465H probably damaging Het
Cdh9 A T 15: 16,856,135 (GRCm39) D725V probably damaging Het
Cert1 T A 13: 96,770,700 (GRCm39) D536E probably benign Het
Chl1 C T 6: 103,652,058 (GRCm39) R309C probably damaging Het
Dbt T A 3: 116,341,847 (GRCm39) *483K probably null Het
Ddx46 A G 13: 55,785,907 (GRCm39) D29G unknown Het
Des T C 1: 75,338,985 (GRCm39) I222T possibly damaging Het
Dnah8 A G 17: 30,891,323 (GRCm39) N776S probably benign Het
Glb1l3 A C 9: 26,729,601 (GRCm39) V622G probably damaging Het
Grin2a T C 16: 9,487,704 (GRCm39) D398G possibly damaging Het
Itgb3 T C 11: 104,524,293 (GRCm39) M143T probably damaging Het
Lama2 G A 10: 27,245,047 (GRCm39) R245C probably damaging Het
Lgals9 G A 11: 78,875,626 (GRCm39) A6V probably benign Het
Lman2l A T 1: 36,482,628 (GRCm39) Y83N probably damaging Het
Lrp2 T A 2: 69,256,383 (GRCm39) T4586S probably benign Het
Med10 T C 13: 69,963,816 (GRCm39) probably benign Het
Myo18b A C 5: 112,937,863 (GRCm39) L1754R probably damaging Het
Myom2 T C 8: 15,172,679 (GRCm39) L1202S probably damaging Het
Nav3 T C 10: 109,594,878 (GRCm39) E1441G probably damaging Het
Nme8 T C 13: 19,880,776 (GRCm39) E60G possibly damaging Het
Npffr2 G T 5: 89,731,020 (GRCm39) A317S probably damaging Het
Nrxn2 A G 19: 6,540,726 (GRCm39) D893G probably damaging Het
Nup153 T C 13: 46,858,681 (GRCm39) E410G possibly damaging Het
Or11h7 T C 14: 50,890,832 (GRCm39) I46T possibly damaging Het
Or7e178 A G 9: 20,247,207 (GRCm39) probably null Het
Pcdhb10 A G 18: 37,546,358 (GRCm39) D478G probably damaging Het
Phf13 T C 4: 152,076,826 (GRCm39) D122G possibly damaging Het
Pkhd1 A T 1: 20,271,243 (GRCm39) H3103Q probably benign Het
Prr11 A C 11: 86,987,787 (GRCm39) probably null Het
Rac3 C T 11: 120,614,092 (GRCm39) T118M possibly damaging Het
Rad54b T C 4: 11,569,833 (GRCm39) S50P possibly damaging Het
Rp1 T C 1: 4,419,747 (GRCm39) Q455R possibly damaging Het
Semp2l1 T A 1: 32,584,841 (GRCm39) E356D probably benign Het
Sorl1 T C 9: 41,944,858 (GRCm39) probably benign Het
Spink5 A T 18: 44,147,827 (GRCm39) I858F possibly damaging Het
Stxbp5 A T 10: 9,742,447 (GRCm39) probably null Het
Svep1 A C 4: 58,116,532 (GRCm39) V906G probably benign Het
Tlr4 A G 4: 66,757,990 (GRCm39) E261G probably damaging Het
Zfp704 C T 3: 9,504,951 (GRCm39) probably benign Het
Zfyve9 A T 4: 108,580,996 (GRCm39) probably benign 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
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
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
Posted On 2016-08-02