|Institutional Source||Beutler Lab|
|Gene Name||delta like canonical Notch ligand 3|
|Is this an essential gene?||Possibly essential (E-score: 0.527)|
|Stock #||R7988 (G1)|
|Chromosomal Location||28293553-28302238 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 28301535 bp|
|Amino Acid Change||Isoleucine to Leucine at position 32 (I32L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000103951 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000081946] [ENSMUST00000108315]|
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: I32L
PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: I32L
|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 delta protein ligand family. This family functions as Notch ligands that are characterized by a DSL domain, EGF repeats, and a transmembrane domain. Mutations in this gene cause autosomal recessive spondylocostal dysostosis 1. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit postnatal lethality, a shortened body and tail, delayed and abnormal somite formation, a kinked neural tube, disorganized PNS elements, and severe axial skeletal dysplasia, including disorganized vertebrae and ribs defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dll3||
(F):5'- TAGTAAAGGCTCTGGGGCAC -3'
(R):5'- TTTCCCAGACGCTGATCCTG -3'
(F):5'- ACACGTACGAGGCCATCAGG -3'
(R):5'- AGACGCTGATCCTGGCTTTTC -3'