|Institutional Source||Beutler Lab|
|Gene Name||BRCA1 associated RING domain 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2237 (G1)|
|Chromosomal Location||71027498-71103146 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 71074976 bp|
|Amino Acid Change||Proline to Leucine at position 282 (P282L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027393 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027393]|
|Predicted Effect||probably damaging
AA Change: P282L
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: P282L
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for disruptions of this gene fail to develop past the egg cylinder stage. The phenotype is similar to that of mice with homozygous for disruptions in Brca1 or homozygous for disruptions in both Bard1 and Brca1. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bard1||
(F):5'- GCAGTGAAGAGCAGTCAACC -3'
(R):5'- TCTGTAGCTAAGATCAACAGGGAG -3'
(F):5'- CACTACGTTTTCTGCAAGCAATG -3'
(R):5'- GGATAGTAGATTTGATTCCAAAGAGG -3'