|Institutional Source||Beutler Lab|
|Gene Name||a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 20|
|Is this an essential gene?||Probably non essential (E-score: 0.153)|
|Stock #||R8233 (G1)|
|Chromosomal Location||94270163-94465418 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 94291652 bp|
|Amino Acid Change||Isoleucine to Serine at position 1440 (I1440S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000036330 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000035342]|
|Predicted Effect||probably benign
AA Change: I1440S
PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: I1440S
|Coding Region Coverage||
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'- AACAACTACTGAGCTTGGGATG -3'
(R):5'- TCATGAACTGCACATACTATGCG -3'
(F):5'- TAGATAGACAGACACACAGACAGATG -3'
(R):5'- GAACTGCACATACTATGCGTAATAGG -3'