|Institutional Source||Beutler Lab|
|Gene Name||a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 14|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5694 (G1)|
|Chromosomal Location||61197112-61273438 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 61229652 bp (GRCm38)|
|Amino Acid Change||Methionine to Lysine at position 356 (M356K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000112723 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000092486] [ENSMUST00000120336]|
AA Change: M356K
PolyPhen 2 Score 0.449 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: M356K
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme cleaves amino-terminal propeptides from type I procollagen, a necessary step in the formation of collagen fibers. Mutations in this gene may be associated with osteoarthritis in human patients. [provided by RefSeq, May 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adamts14||
(F):5'- CACAGTCCTTCCGTTCCAAG -3'
(R):5'- AGTGTTCTCCCTCTGAGGAGAG -3'
(F):5'- AAGGCTTACCCTGCTGTCTG -3'
(R):5'- AGAGCACCACTGGAGTTCG -3'