|Institutional Source||Beutler Lab|
|Gene Name||a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 13|
|Synonyms||vWF-CP mRNA for von Willebrand factor-cleaving, LOC279028|
|Is this an essential gene?||Probably non essential (E-score: 0.096)|
|Stock #||R4363 (G1)|
|Chromosomal Location||26973416-27009628 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 27004782 bp|
|Amino Acid Change||Cysteine to Tyrosine at position 1034 (C1034Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099955 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102891]|
|Predicted Effect||probably damaging
AA Change: C1034Y
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: C1034Y
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.9649|
|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. In certain mouse strains (C57BL/6, for example) an intracisternal A-type particle (IAP) retrotransposon sequence is located in the intron 23 that causes an alternate splicing event resulting in a shorter transcript variants encoding shorter isoforms. The encoded preproprotein undergoes proteolytic processing to generate an active enzyme that cleaves von Willebrand factor (VWF) in circulating blood. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous mutation of this gene results in thrombocytopenia, decreased survival, and increased susceptibility to developing thrombotic thrombocytopenic purpura after shiga toxin injection. On a different background, mutants are viable and fertile. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adamts13||
(F):5'- TACTGATGCTCAATGAGGTCAGTG -3'
(R):5'- TGCACAAAGATCCCTTGCTG -3'
(F):5'- TGCTCAATGAGGTCAGTGGAGAC -3'
(R):5'- AAAGATCCCTTGCTGATACCTTGAC -3'