|Institutional Source||Beutler Lab|
|Gene Name||a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 1|
|Synonyms||METH1, ADAMTS-1, ADAM-TS1, METH-1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1847 (G1)|
|Chromosomal Location||85793827-85803113 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 85802226 bp|
|Amino Acid Change||Glutamic Acid to Glycine at position 162 (E162G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023610 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023610] [ENSMUST00000125897]|
|Predicted Effect||possibly damaging
AA Change: E162G
PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: E162G
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0608|
|Coding Region Coverage||
|Validation Efficiency||97% (68/70)|
FUNCTION: This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family and preproprotein that is proteolytically processed to generate a mature protein product. This secreted protein product plays an important role in ovulation, likely through its cleavage of the extracellular matrix component versican. The encoded protein may enhance tumorigenesis in a mouse model of breast cancer. Homozygous knockout mice for this gene exhibit enhanced perinatal lethality, impaired growth and adipose tissue development, and impaired ovulation in females. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene display growth retardation with adipose tissue malformation, impaired female fertility, enlarged renal calices and abnormal adrenal medullary architecture. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adamts1||
(F):5'- ATACCTGATGGCTTTCCCGC -3'
(R):5'- ATCTGAAGTTGCAGCCGGAC -3'
(F):5'- CCACTGGTTCCGGGTGTTC -3'
(R):5'- CCGGACAGCGGTTTCTTG -3'