|Institutional Source||Beutler Lab|
|Gene Name||matrilin 1, cartilage matrix protein|
|Synonyms||Mat1, Crtm, CMP, matrilin-1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1457 (G1)|
|Chromosomal Location||130944385-130955475 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 130950019 bp|
|Amino Acid Change||Phenylalanine to Isoleucine at position 180 (F180I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099636 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102576]|
|Predicted Effect||possibly damaging
AA Change: F180I
PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: F180I
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. Mutations of this gene have been associated with variety of inherited chondrodysplasias. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are viable, fertile and display normal cartilage development and endochondral bone formation. Mice homozygous for one targeted allele show alterations in type II collagen fibrillogenesis and fibril organization, in the absence of skeletal defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Matn1||
(F):5'- TGTCAGAAGAAGCCGATAGTCTCCC -3'
(R):5'- CCAACTAGGCTCTGAGATTGGTGC -3'
(F):5'- gtgtgtgtgtgtgtTCTGGC -3'
(R):5'- TTCTCAGAATTAGTCAAGCCCAGG -3'