|Institutional Source||Beutler Lab|
|Gene Name||B cell translocation gene 3|
|Essential gene?||Probably non essential (E-score: 0.116)|
|Stock #||R7336 (G1)|
|Chromosomal Location||78332637-78377192 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 78364807 bp (GRCm38)|
|Amino Acid Change||Tyrosine to Histidine at position 172 (Y172H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023570 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023570] [ENSMUST00000148124] [ENSMUST00000231353]|
AA Change: Y172H
PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: Y172H
AA Change: Y145H
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|Meta Mutation Damage Score||0.0771|
|Coding Region Coverage||
|Validation Efficiency||99% (80/81)|
FUNCTION: This gene encodes B cell translocation gene 3, a member of the BTG gene family. This family is defined by a conserved N-terminal domain, known to bind transcription factors, and a less conserved C-terminal domain. This protein is thought to have anti-proliferative properties, and may be involved in regulating the G1-S transition to suppress cell cycle progression. Mice deficient for this gene display an increased incidence of lung cancers, and many human lung cancer cells exhibit decreased levels of B cell translocation gene 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 17. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased incidence of lung tumors. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Btg3||
(F):5'- CAGTTGCATCTCTGATAAGCAGC -3'
(R):5'- TCATGTCCACCTAGGTATGGAGAG -3'
(F):5'- AAGCAGCTTTCCACTAGTGTG -3'
(R):5'- AATGCGTTCATTGTTGCCAGC -3'