|Institutional Source||Beutler Lab|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0690 (G1)|
|Chromosomal Location||64014931-64206271 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 64074290 bp|
|Amino Acid Change||Serine to Asparagine at position 399 (S399N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000070560 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000066166]|
|Predicted Effect||probably damaging
AA Change: S399N
PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: S399N
|Meta Mutation Damage Score||0.178|
|Coding Region Coverage||
|Validation Efficiency||97% (87/90)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an astacin-like, zinc-dependent, metalloprotease that belongs to the peptidase M12A family. This protease processes procollagen C-propeptides, such as chordin, pro-biglycan and pro-lysyl oxidase. Studies in mice suggest that this gene plays multiple roles in the development of mammalian heart, and is essential for the formation of the interventricular septum. Allelic variants of this gene are associated with atrial septal defect type 6. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]
PHENOTYPE: Homozygous null mice are embryonic lethal with death at midgestation from cardiac failure. Cardiac defects include incomplete formation of the ventricular septum and abnormal positioning of the heart and aorta. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tll1||
(F):5'- TGCCTTGGGAAAGAGACCACACAC -3'
(R):5'- TGCTATGAGCATGTAATACCCACACAC -3'
(F):5'- Ccacacacacacacacacac -3'
(R):5'- CACACATGCAGAACATATTAATGAG -3'