|Institutional Source||Beutler Lab|
|Gene Name||a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 20|
|Is this an essential gene?||Possibly non essential (E-score: 0.285)|
|Stock #||R2350 (G1)|
|Chromosomal Location||94270163-94465418 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 94283916 bp|
|Amino Acid Change||Cysteine to Tyrosine at position 1632 (C1632Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000036330 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000035342]|
|Predicted Effect||probably damaging
AA Change: C1632Y
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: C1632Y
|Meta Mutation Damage Score||0.076|
|Coding Region Coverage||
|Validation Efficiency||100% (40/40)|
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. The encoded preproprotein undergoes proteolytic processing to generate an active protease. Certain mutations in this gene cause defective development of neural crest-derived melanoblasts resulting in a "belted" phenotype that is characterized by white spots in the lumbar region. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for spontaneous or ENU-induced mutations exhibit abnormal coat/hair pigmentation, including a typical white belt phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adamts20||
(F):5'- CAAGCTATTGTCTTTGAGGACTAC -3'
(R):5'- CAGCTGACAGATATTAGGGCTCAG -3'
(F):5'- GTCTTTGAGGACTACAAATGAGTAC -3'
(R):5'- TCAGAGTGAGCTTCAGGACTC -3'
|Posted On||Oct 30, 2014|