Fbn1 - SNV Details



 Human Rare Diseases 
Shprintzen-Goldberg syndrome
Marfan syndrome type 1
Stiff skin syndrome
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Geleophysic dysplasia
Neonatal Marfan syndrome
Weill-Marchesani syndrome
Ectopia lentis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Acromicric dysplasia
Progeroid and marfanoid aspect-lipodystrophy syndrome

 Gene Information 
Gene Name Fbn1
Old Gene Names for Fbn1 Ai536462
Gene Description fibrillin 1 [Source:MGI Symbol;Acc:MGI:95489]
MGI 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.
Uniprot Name
CCDS Name
Gene GO
basement membrane
binding
calcium ion binding
chitin binding
chitin metabolic process
extracellular matrix
extracellular matrix structural constituent
extracellular region
extracellular space
heart development
microfibril
Homolog in other species FBN1
Omim http://omim.org/entry/134797
Immgen Expression
MEDIAN
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN RETINA, PITUITARY, DORSALROOTGANGLION, TRIGEMINAL, KIDNEY, LIVER, C2C12, UMBLICALCORD, NIH.3T3, OSTEOBLASTS, EPITH GROUP, IMM.G2, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
MEDIAN(HIGH IN OSTEOBLASTS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000027204
Chromosome 2
Coordinate 125,377,910     (Assembly: GRCm38)    
Ref Base C
Codon Change Gga/Tga
Var Base A
Zygosity Heterozygous
Read Depth 35
Allele Frequency
C:0.54
A:0.46
Amino Acid Position 666
Amino Acid Change G->Stop (Glycine -> Stop)
Sample ID IGL00935
Median Base Quality 38
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 12 Other Mutations

 Predictions 
Polyphen Prediction N/A

 Protein domains 
ENSMUSP00000028633:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Fibrillin FBN IPR011398 ENSMUSP00000028633 PIRSF 1
2873 Description available Search pathways

 Availability Details 
Availability Cryopreserved