|Institutional Source||Beutler Lab|
|Gene Name||CUB domain containing protein 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1411 (G1)|
|Chromosomal Location||123170824-123216038 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 123190112 bp|
|Amino Acid Change||Leucine to Glutamine at position 34 (L34Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000042057 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000039229]|
|Predicted Effect||probably damaging
AA Change: L34Q
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: L34Q
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.128|
|Coding Region Coverage||
|Validation Efficiency||100% (46/46)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein which contains three extracellular CUB domains and acts as a substrate for Src family kinases. The protein plays a role in the tyrosine phosphorylation-dependent regulation of cellular events that are involved in tumor invasion and metastasis. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cdcp1||
(F):5'- GAATGACCTCTCTCCCGCAGAATG -3'
(R):5'- AGGACAATGCCTCTGCTTGTCAC -3'
(F):5'- CACCAGAGACTGGTACATCTGTG -3'
(R):5'- ACCACAGCATATTCCCTGCT -3'