|Institutional Source||Beutler Lab|
|Gene Name||capicua transcriptional repressor|
|Is this an essential gene?||Probably essential (E-score: 0.939)|
|Stock #||R3946 (G1)|
|Chromosomal Location||25267704-25294159 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 25272346 bp|
|Amino Acid Change||Arginine to Serine at position 501 (R501S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000132351 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000169266] [ENSMUST00000169392]|
|Predicted Effect||possibly damaging
AA Change: R501S
PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: R501S
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.0748|
|Coding Region Coverage||
|Validation Efficiency||98% (60/61)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an ortholog of the Drosophila melanogaster capicua gene, and is a member of the high mobility group (HMG)-box superfamily of transcriptional repressors. This protein contains a conserved HMG domain that is involved in DNA binding and nuclear localization, and a conserved C-terminus. Studies suggest that the N-terminal region of this protein interacts with Atxn1 (GeneID:6310), to form a transcription repressor complex, and in vitro studies suggest that polyglutamine-expansion of ATXN1 may alter the repressor activity of this complex. Mutations in this gene have been associated with olidogdendrogliomas (PMID:21817013). In addition, translocation events resulting in gene fusions of this gene with both DUX4 (GeneID:100288687) and FOXO4 (GeneID:4303) have been associated with round cell sarcomas. There are multiple pseudogenes of this gene found on chromosomes 1, 4, 6, 7, 16, 20, and the Y chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit partial postnatal lethality, decreased body size, and severe lung alveolarization defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cic||
(F):5'- TCTCCAACATCAGCTTTGGTAG -3'
(R):5'- CCAGTCAAACTCAGTGCTTCC -3'
(F):5'- CTTTGGTAGCAACCTGGGGAC -3'
(R):5'- AAACTCAGTGCTTCCTTCCCGG -3'