Incidental Mutation 'R5980:Fbn1'
ID 481363
Institutional Source Beutler Lab
Gene Symbol Fbn1
Ensembl Gene ENSMUSG00000027204
Gene Name fibrillin 1
Synonyms Fib-1
MMRRC Submission 044162-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.916) question?
Stock # R5980 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 125142514-125348417 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125157324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 2320 (C2320R)
Ref Sequence ENSEMBL: ENSMUSP00000099524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028633] [ENSMUST00000103234]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000028633
AA Change: C2320R

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028633
Gene: ENSMUSG00000027204
AA Change: C2320R

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 damaging
Transcript: ENSMUST00000103234
AA Change: C2320R

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099524
Gene: ENSMUSG00000027204
AA Change: C2320R

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
Meta Mutation Damage Score 0.9721 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 96% (50/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,544,018 (GRCm39) N508D possibly damaging Het
Ago1 C T 4: 126,354,362 (GRCm39) probably benign Het
Apol6 A T 15: 76,935,219 (GRCm39) T163S possibly damaging Het
Arhgap27 T C 11: 103,247,095 (GRCm39) T33A probably benign Het
Atg7 C A 6: 114,657,197 (GRCm39) F132L possibly damaging Het
Cep104 C A 4: 154,072,930 (GRCm39) A396E probably benign Het
Cers4 T A 8: 4,568,269 (GRCm39) C107* probably null Het
Cntn6 T C 6: 104,825,093 (GRCm39) S878P probably damaging Het
Dnah6 T C 6: 73,158,705 (GRCm39) K633E probably benign Het
Dst T A 1: 34,221,972 (GRCm39) I2592K probably benign Het
Ep400 G A 5: 110,881,595 (GRCm39) probably benign Het
Gpi1 A G 7: 33,928,351 (GRCm39) probably null Het
Gse1 T G 8: 120,956,376 (GRCm39) probably benign Het
Hid1 G A 11: 115,241,774 (GRCm39) T612I possibly damaging Het
Ighmbp2 G T 19: 3,315,295 (GRCm39) H708Q probably benign Het
Igkv10-95 T C 6: 68,657,573 (GRCm39) S10P probably damaging Het
Igkv14-100 T C 6: 68,496,009 (GRCm39) V5A probably benign Het
Irgq G A 7: 24,232,770 (GRCm39) G204S probably damaging Het
Kansl1 T C 11: 104,234,463 (GRCm39) K681R possibly damaging Het
Kcnv1 C A 15: 44,972,810 (GRCm39) V358L probably damaging Het
Lrp2 A T 2: 69,365,349 (GRCm39) S275T probably damaging Het
Lysmd1 A T 3: 95,045,219 (GRCm39) D155V probably damaging Het
Magel2 A T 7: 62,030,344 (GRCm39) I1083F unknown Het
Mta3 T A 17: 84,015,834 (GRCm39) V12D probably damaging Het
Mtmr4 T C 11: 87,494,977 (GRCm39) I423T probably damaging Het
Mup11 A G 4: 60,616,887 (GRCm39) Y16H possibly damaging Het
Mycbp G A 4: 123,804,889 (GRCm39) V91I probably benign Het
Ngly1 A C 14: 16,270,509 (GRCm38) Q72P possibly damaging Het
Nol4 T A 18: 23,085,258 (GRCm39) Q52L probably damaging Het
Nrcam T C 12: 44,618,416 (GRCm39) V808A probably damaging Het
Or10p22 A G 10: 128,826,309 (GRCm39) H176R probably damaging Het
Or5ak23 A T 2: 85,244,509 (GRCm39) F238Y probably damaging Het
Or8k24 A T 2: 86,216,141 (GRCm39) L207* probably null Het
Pate10 A C 9: 35,652,911 (GRCm39) D51A probably damaging Het
Pik3c2b C A 1: 133,016,046 (GRCm39) D869E probably benign Het
Pom121l2 T C 13: 22,167,546 (GRCm39) S606P probably damaging Het
Prdm15 G A 16: 97,613,770 (GRCm39) R517* probably null Het
Ralgapa1 T A 12: 55,817,401 (GRCm39) probably null Het
Saraf T A 8: 34,632,541 (GRCm39) F207I probably benign Het
Sema6d A G 2: 124,506,628 (GRCm39) D874G probably damaging Het
Sfrp5 A T 19: 42,190,411 (GRCm39) L14M unknown Het
Sidt1 A T 16: 44,083,675 (GRCm39) C485* probably null Het
Sptbn4 A G 7: 27,071,596 (GRCm39) Y1618H probably damaging Het
Syt14 T C 1: 192,662,716 (GRCm39) Q127R possibly damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Ticrr G A 7: 79,310,703 (GRCm39) A206T probably damaging Het
Tmem132d T A 5: 127,861,662 (GRCm39) I820F probably benign Het
Trafd1 A G 5: 121,511,520 (GRCm39) Y433H probably damaging Het
Trim68 A G 7: 102,328,038 (GRCm39) V305A probably damaging Het
Vmn2r58 T A 7: 41,514,480 (GRCm39) Y163F possibly damaging Het
Vmn2r83 T A 10: 79,314,626 (GRCm39) H291Q probably benign Het
Vmn2r95 A G 17: 18,661,624 (GRCm39) I457V 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
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
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'- TCACTAAGTCATCTCCCAAGGATG -3'
(R):5'- GGATTTCCAGCTTTTCACCATG -3'

Sequencing Primer
(F):5'- CAAGGATGACTGCTTTCAGC -3'
(R):5'- CCAGCTTTTCACCATGTAGATAG -3'
Posted On 2017-06-26