Incidental Mutation 'IGL01860:Fbln5'
ID178293
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbln5
Ensembl Gene ENSMUSG00000021186
Gene Namefibulin 5
SynonymsEVEC
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.163) question?
Stock #IGL01860
Quality Score
Status
Chromosome12
Chromosomal Location101746565-101819055 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 101809869 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 89 (Y89H)
Ref Sequence ENSEMBL: ENSMUSP00000152680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021603] [ENSMUST00000222587]
Predicted Effect probably damaging
Transcript: ENSMUST00000021603
AA Change: Y76H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021603
Gene: ENSMUSG00000021186
AA Change: Y76H

DomainStartEndE-ValueType
EGF_like 42 86 4.71e-1 SMART
EGF_CA 127 167 4.81e-8 SMART
EGF_CA 168 206 2.31e-10 SMART
EGF_CA 207 246 5.31e-10 SMART
EGF_CA 247 287 2.22e-12 SMART
EGF_like 288 333 8.14e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221373
Predicted Effect probably damaging
Transcript: ENSMUST00000222587
AA Change: Y89H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a secreted, extracellular matrix protein containing an Arg-Gly-Asp (RGD) motif and calcium-binding EGF-like domains. It promotes adhesion of endothelial cells through interaction of integrins and the RGD motif. It is prominently expressed in developing arteries but less so in adult vessels. However, its expression is reinduced in balloon-injured vessels and atherosclerotic lesions, notably in intimal vascular smooth muscle cells and endothelial cells. Therefore, the protein encoded by this gene may play a role in vascular development and remodeling. Defects in this gene are a cause of autosomal dominant cutis laxa, autosomal recessive cutis laxa type I (CL type I), and age-related macular degeneration type 3 (ARMD3). [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this locus impairs elastic fiber development. Mutant mice exhibit loose skin, lung abnormalities leading to emphysema, and cardiovascular defects affecting the aorta. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,952,416 N248Y possibly damaging Het
Adamts13 G A 2: 26,978,011 V128M probably damaging Het
Agl A T 3: 116,772,526 probably benign Het
Arfgef1 A T 1: 10,154,396 M1405K probably damaging Het
Atp6v1a G T 16: 44,099,956 L426M probably damaging Het
Cdc123 A G 2: 5,803,941 probably benign Het
Cept1 A G 3: 106,531,128 probably benign Het
Cipc T A 12: 86,960,273 D60E probably damaging Het
Exosc3 A G 4: 45,319,659 I121T probably benign Het
Fam155a A T 8: 9,207,831 V439E probably damaging Het
Fam26f A G 10: 34,126,565 V174A probably damaging Het
Fhod3 T A 18: 24,903,948 I154N probably damaging Het
Fhod3 T C 18: 24,897,681 F128L probably damaging Het
Fpgt T C 3: 155,086,846 T515A probably benign Het
Gas2l2 G A 11: 83,422,080 T802I probably benign Het
Gm10424 G A 5: 95,270,651 T162I probably benign Het
Gm10710 T A 3: 83,127,849 probably benign Het
Gm11639 T C 11: 104,690,921 S30P probably benign Het
Hdac4 A G 1: 91,933,695 M1051T probably benign Het
Heatr5b A G 17: 78,808,480 V849A probably damaging Het
Helb T C 10: 120,102,833 I579V probably damaging Het
Hspa1l A G 17: 34,978,811 I609V probably benign Het
Itgam C A 7: 128,070,943 Q136K probably benign Het
Kcnc1 T C 7: 46,428,130 L452P probably damaging Het
Ltbp4 T A 7: 27,319,646 T1083S probably damaging Het
Mki67 T C 7: 135,698,957 I1449M probably damaging Het
Mpp5 T C 12: 78,830,907 V531A possibly damaging Het
P2rx5 T A 11: 73,165,559 V103E probably damaging Het
Pappa A G 4: 65,205,092 D888G possibly damaging Het
Pcdhb21 G T 18: 37,514,905 M362I probably benign Het
Pde1a A G 2: 79,875,284 S333P probably damaging Het
Ppm1j A G 3: 104,784,092 T299A probably damaging Het
Ptdss2 A G 7: 141,152,836 E168G probably damaging Het
Rspry1 A G 8: 94,649,816 N322S probably benign Het
Slc7a9 T A 7: 35,457,060 V309E probably damaging Het
Slco6c1 A G 1: 97,075,823 probably benign Het
Tas2r120 T A 6: 132,657,264 M103K probably damaging Het
Tbxas1 T A 6: 38,948,627 F59I probably damaging Het
Tfpi A G 2: 84,444,034 S203P probably benign Het
Tram2 T C 1: 21,003,859 N285S possibly damaging Het
Trio T A 15: 27,846,810 D980V probably damaging Het
Trpv5 T A 6: 41,660,295 H419L probably damaging Het
Usp28 C T 9: 49,032,243 R361* probably null Het
Vmn1r6 T A 6: 57,002,689 L112* probably null Het
Vmn2r12 A T 5: 109,092,159 N179K probably benign Het
Vmn2r82 G T 10: 79,378,857 A225S probably benign Het
Zcchc4 A G 5: 52,808,356 Y334C probably damaging Het
Zfp609 T C 9: 65,702,834 E949G possibly damaging Het
Other mutations in Fbln5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00863:Fbln5 APN 12 101809916 missense probably damaging 0.98
IGL01357:Fbln5 APN 12 101750887 missense probably damaging 1.00
IGL02567:Fbln5 APN 12 101761800 critical splice donor site probably null
R0368:Fbln5 UTSW 12 101809714 critical splice donor site probably null
R1080:Fbln5 UTSW 12 101750872 missense possibly damaging 0.90
R1606:Fbln5 UTSW 12 101765198 missense probably benign 0.04
R2107:Fbln5 UTSW 12 101771269 missense probably damaging 1.00
R2138:Fbln5 UTSW 12 101761920 missense probably benign 0.32
R3694:Fbln5 UTSW 12 101765252 missense probably benign 0.00
R3918:Fbln5 UTSW 12 101750791 missense probably damaging 1.00
R4166:Fbln5 UTSW 12 101757359 missense probably damaging 1.00
R4626:Fbln5 UTSW 12 101760827 missense probably damaging 1.00
R5004:Fbln5 UTSW 12 101760821 missense probably damaging 0.99
R5264:Fbln5 UTSW 12 101757444 missense possibly damaging 0.94
R5364:Fbln5 UTSW 12 101771364 missense probably damaging 0.98
R5767:Fbln5 UTSW 12 101765209 missense probably damaging 0.97
R5889:Fbln5 UTSW 12 101765226 missense probably damaging 1.00
R5914:Fbln5 UTSW 12 101760743 missense possibly damaging 0.78
R6427:Fbln5 UTSW 12 101761822 missense possibly damaging 0.84
R7079:Fbln5 UTSW 12 101757408 missense probably damaging 1.00
R7343:Fbln5 UTSW 12 101760816 missense probably damaging 1.00
R7803:Fbln5 UTSW 12 101761818 missense probably damaging 1.00
Posted On2014-05-07