|Institutional Source||Beutler Lab|
|Gene Name||a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 18|
|Is this an essential gene?||Probably non essential (E-score: 0.092)|
|Stock #||R5868 (G1)|
|Chromosomal Location||113697126-113848738 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 113777748 bp (GRCm38)|
|Amino Acid Change||Glutamine to Leucine at position 80 (Q80L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000148330 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000093113] [ENSMUST00000212665]|
AA Change: Q237L
PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: Q237L
AA Change: Q110L
AA Change: Q80L
PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
|Meta Mutation Damage Score||0.0823|
|Coding Region Coverage||
|Validation Efficiency||95% (58/61)|
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. ADAMTS family members 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 protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for a floxed allele exhibit some fertility defects. Mice homozygous for a null allele exhibit growth and eye defects and increased susceptibility to chemically induced tumors. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adamts18||
(F):5'- CAATCCTTTTGCTAGGCGGC -3'
(R):5'- GACCCGAGACAATGAATTCCTC -3'
(F):5'- GGCATCCGGAACAAACTGCG -3'
(R):5'- CGAGACAATGAATTCCTCATCTC -3'