|Institutional Source||Beutler Lab|
|Gene Name||a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 6|
|Synonyms||b2b2187.1Clo, b2b2182Clo, ADAM-TS6, b2b2029Clo, b2b1879.1Clo, b2b2228Clo, A930019D11Rik|
|Is this an essential gene?||Probably essential (E-score: 0.833)|
|Stock #||R8274 (G1)|
|Chromosomal Location||104287835-104496695 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 104313673 bp|
|Amino Acid Change||Valine to Alanine at position 294 (V294A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000064570 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000065766]|
|Predicted Effect||probably benign
AA Change: V294A
PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
AA Change: V294A
|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 the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) 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. Expression of this gene may be regulated by the cytokine TNF-alpha. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for induced mutations exhibit cardiovascular defects including double outlet right ventricle, ventricular septal defects and biventricular hypertrophy, and hydrops, thymus hypoplasia short snout and cleft palate. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adamts6||
(F):5'- AAGCCTCTTGAAATGGTACTGGG -3'
(R):5'- TCGTCAGGTAAGTCGTACAAATC -3'
(F):5'- GGTACTGGGTAAAATAATATGTT -3'
(R):5'- GTCAGGTAAGTCGTACAAATCAAATG -3'