|Institutional Source||Beutler Lab|
|Gene Name||bridging integrator 3|
|Essential gene?||Probably non essential (E-score: 0.229)|
|Stock #||R8429 (G1)|
|Chromosomal Location||70100105-70138206 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 70137149 bp (GRCm38)|
|Amino Acid Change||Tyrosine to Cysteine at position 209 (Y209C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022680 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022680] [ENSMUST00000035612]|
AA Change: Y209C
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: Y209C
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a member of the BAR domain protein family. The encoded protein is comprised solely of a BAR domain which is predicted to form coiled-coil structures and proposed to mediate dimerization, sense and induce membrane curvature, and bind small GTPases. BAR domain proteins have been implicated in endocytosis, intracellular transport, and a diverse set of other processes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice develop juvenile cataracts characterized by defects in cytoskeletal filamentous actin organization, show a higher incidence of spontaneous lymphomas during aging, and display a greater sensitivity to lung adenocarcinoma formation in response to radiation or carcinogen treatment. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bin3||
(F):5'- CCTAGACTGCTGAGGGATAGATAG -3'
(R):5'- AGAGATGTCACCTGTGTCCC -3'
(F):5'- TGAGGTCTAAGAGGCAGTGATG -3'
(R):5'- CCTGTGTCCCAAAGAGTCTAAGG -3'