|Institutional Source||Beutler Lab|
|Gene Name||a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 19|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5792 (G1)|
|Chromosomal Location||58836764-59053678 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 58837512 bp|
|Amino Acid Change||Threonine to Methionine at position 56 (T56M)|
|Ref Sequence||ENSEMBL: ENSMUSP00000050535 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000052907]|
|Predicted Effect||possibly damaging
AA Change: T56M
PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: T56M
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||95% (56/59)|
|MGI Phenotype||FUNCTION: This gene encodes a member of "a disintegrin and metalloproteinase with thrombospondin motifs" (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. This gene is predominantly expressed in the ovary with lower levels of expression observed in kidney, heart, skeletal muscle, lung and testis. The encoded preproprotein undergoes proteolytic processing to generate an active protease. [provided by RefSeq, Jul 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adamts19||
(F):5'- TTCAGGAACTAGACGGGTGGTC -3'
(R):5'- GCTCCTGAGATTCGAGTTCCTC -3'
(F):5'- GCTTTCGTGCAAGCGTC -3'
(R):5'- TCGTCCTCAGCACCTGG -3'