|Institutional Source||Beutler Lab|
|Gene Name||breast cancer anti-estrogen resistance 3|
|Is this an essential gene?||Possibly essential (E-score: 0.667)|
|Stock #||R7816 (G1)|
|Chromosomal Location||122294136-122530191 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 122426694 bp|
|Amino Acid Change||Threonine to Isoleucine at position 80 (T80I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000029766 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000029766]|
|Predicted Effect||probably benign
AA Change: T80I
PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
AA Change: T80I
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Breast tumors are initially dependent on estrogens for growth and progression and can be inhibited by anti-estrogens such as tamoxifen. However, breast cancers progress to become anti-estrogen resistant. Breast cancer anti-estrogen resistance gene 3 was identified in the search for genes involved in the development of estrogen resistance. The gene encodes a component of intracellular signal transduction that causes estrogen-independent proliferation in human breast cancer cells. The protein contains a putative src homology 2 (SH2) domain, a hall mark of cellular tyrosine kinase signaling molecules, and is partly homologous to the cell division cycle protein CDC48. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit cataracts due to rupture of the lens capsule and liquefaction of lens cortical fibers. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bcar3||
(F):5'- TGAATCACCAGTTCCCCTTG -3'
(R):5'- GGACCCCAGGCTTTACATAC -3'
(F):5'- TTGGCCTCGTCCATGGAC -3'
(R):5'- AGGCTTTACATACACCAGAAGG -3'