|Institutional Source||Beutler Lab|
|Gene Name||catenin, beta like 1|
|Synonyms||P14L, FLJ21108, NYD-SP19, 5730471K09Rik|
|Is this an essential gene?||Probably essential (E-score: 0.963)|
|Stock #||R2971 (G1)|
|Chromosomal Location||157737401-157891614 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 157871186 bp|
|Amino Acid Change||Histidine to Tyrosine at position 464 (H464Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029178 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029178]|
|Predicted Effect||probably benign
AA Change: H464Y
PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
AA Change: H464Y
|Meta Mutation Damage Score||0.1043|
|Coding Region Coverage||
|Validation Efficiency||100% (35/35)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a component of the pre-mRNA-processing factor 19-cell division cycle 5-like (PRP19-CDC5L) protein complex, which activates pre-mRNA splicing and is an integral part of the spliceosome. The encoded protein is also a nuclear localization sequence binding protein, and binds to activation-induced deaminase and is important for antibody diversification. This gene may also be associated with the development of obesity. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on the X chromosome. [provided by RefSeq, Jul 2013] |
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ctnnbl1||
(F):5'- GATGCTCATCCCCATGTCAG -3'
(R):5'- AACCACTTGAAGGGTAGTTACAC -3'
(F):5'- TCATCCCCATGTCAGAAGTGG -3'
(R):5'- TGACCTCTGTGGAAATGCAC -3'