|Institutional Source||Beutler Lab|
|Is this an essential gene?||Possibly non essential (E-score: 0.348)|
|Stock #||R4748 (G1)|
|Chromosomal Location||134037254-134048277 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 134041174 bp|
|Amino Acid Change||Asparagine to Lysine at position 317 (N317K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035489 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000048183] [ENSMUST00000162779]|
|Predicted Effect||probably damaging
AA Change: N317K
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: N317K
|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'- ATGTCTACACCGTCCCTGAC -3'
(R):5'- AGGGCTTTGCAGTCAGTATACTTG -3'
(F):5'- TGACAGCTACTTCCGGGG -3'
(R):5'- CAGTCAGTATACTTGATTGTTTGGC -3'