|Institutional Source||Beutler Lab|
|Gene Name||a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 9|
|Synonyms||8430403M15Rik, E030027K14Rik, 1810011L16Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1558 (G1)|
|Chromosomal Location||92772699-92943492 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 92908711 bp|
|Amino Acid Change||Lysine to Asparagine at position 399 (K399N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000109065 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000113438]|
|Predicted Effect||possibly damaging
AA Change: K399N
PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: K399N
|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. Members of the ADAMTS family have been implicated in the cleavage of proteoglycans, the control of organ shape during development, and the inhibition of angiogenesis. This gene is localized to chromosome 3p14.3-p14.2, an area known to be lost in hereditary renal tumors. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous null mice display embryonic lethality before somite formation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adamts9||
(F):5'- CGTGAGCTATTGTGAAAGCTGTGC -3'
(R):5'- AACTAACCTTTCTGGGGCCAGGTG -3'
(F):5'- CTTCACTAATGGAACAGCTTCGG -3'
(R):5'- CCATGCTTCACAAAGTTTGGG -3'