|Institutional Source||Beutler Lab|
|Gene Name||breast cancer 1, early onset|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0962 (G1)|
|Chromosomal Location||101488764-101551955 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 101525366 bp (GRCm38)|
|Amino Acid Change||Histidine to Glutamine at position 647 (H647Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000017290 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000017290] [ENSMUST00000142086] [ENSMUST00000191198]|
AA Change: H647Q
PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
AA Change: H647Q
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||100% (56/56)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified. [provided by RefSeq, May 2009]
PHENOTYPE: Homozygous null mutants are embryonic lethal with abnormalities including growth retardation, neural tube defects, and mesoderm abnormalities; conditional mutations cause genetic instability and enhanced tumor formation; mutants with truncated BRCA1 protein survive, have a kinky tail, pigmentation anomalies, male infertility and increased tumor incidence. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Brca1||
(F):5'- TGCATATCTGACAGTGTGAGCGTCC -3'
(R):5'- TGCTTCCACAGCAGGAGCCAAATC -3'
(F):5'- TCGTAGTCAGTGTCAGATACCAAG -3'
(R):5'- GATTTGGAGGTAGAATTAAACGTCC -3'