|Institutional Source||Beutler Lab|
|Is this an essential gene?||Possibly non essential (E-score: 0.348)|
|Stock #||R1702 (G1)|
|Chromosomal Location||134037254-134048277 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 134040762 bp|
|Amino Acid Change||Glutamic Acid to Valine at position 180 (E180V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035489 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000048183] [ENSMUST00000162779]|
|Predicted Effect||probably damaging
AA Change: E180V
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: E180V
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Fibromodulin belongs to the family of small interstitial proteoglycans. The encoded protein possesses a central region containing leucine-rich repeats with 4 keratan sulfate chains, flanked by terminal domains containing disulphide bonds. Owing to the interaction with type I and type II collagen fibrils and in vitro inhibition of fibrillogenesis, the encoded protein may play a role in the assembly of extracellular matrix. It may also regulate TGF-beta activities by sequestering TGF-beta into the extracellular matrix. Sequence variations in this gene may be associated with the pathogenesis of high myopia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mice homozygous for a targeted null mutation contain more immature, small diameter collagen fibrils in the tendon and display an increase in age-dependent osteoarthritis and degenerative changes of the articular cartilage. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fmod||
(F):5'- ACCAGATCTCTGCCATCCAGGAAG -3'
(R):5'- AGCAAGGCCGTTGTTAGTGAGAC -3'
(F):5'- AGGTGTCTTTGACAATGCCAC -3'
(R):5'- CTGTTGTGAGACAACCGGAC -3'