|Institutional Source||Beutler Lab|
|Gene Name||signal peptide, CUB domain, EGF-like 3|
|Is this an essential gene?||Possibly essential (E-score: 0.538)|
|Stock #||R5372 (G1)|
|Chromosomal Location||28142316-28174852 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 28152482 bp|
|Amino Acid Change||Cysteine to Phenylalanine at position 57 (C57F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000038366 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000043503]|
|Predicted Effect||probably damaging
AA Change: C57F
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: C57F
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.9703|
|Coding Region Coverage||
|Validation Efficiency||96% (89/93)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the signal peptide, complement subcomponents C1r/C1s, Uegf, bone morphogenetic protein-1 and epidermal growth factor-like domain containing protein family. Overexpression of this gene in human embryonic kidney cells results in secretion of a glycosylated form of the protein that forms oligomers and tethers to the cell surface. This gene is upregulated in lung cancer tumor tissue compared to healthy tissue and is associated with loss of the epithelial marker E-cadherin and with increased expression of vimentin, a mesenchymal marker. In addition, the protein encoded by this gene is a transforming growth factor beta receptor ligand, and when secreted by cancer cells, it can be cleaved in vitro to release the N-terminal epidermal growth factor-like repeat domain and the C-terminal complement subcomponents C1r/C1s domain. Both the full length protein and C-terminal fragment can bind to the transforming growth factor beta type II receptor to promote the epithelial-mesenchymal transition and tumor angiogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a targeted allele encoding a truncated protein exhibit normal morphology. Mice with a point mutation show skeletal abnormalities, bone metabolism alterations, changes in renal function, behavioral alternations and hearing loss. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Scube3||
(F):5'- GCATGGGCATACAGAGACAC -3'
(R):5'- CAGTCTCACCTTTGCAGTGG -3'
(F):5'- AGAGACACTGCCCCTGG -3'
(R):5'- TCACCTTTGCAGTGGAGAC -3'