|Institutional Source||Beutler Lab|
|Gene Name||brain and acute leukemia, cytoplasmic|
|Essential gene?||Probably non essential (E-score: 0.108)|
|Stock #||R3147 (G1)|
|Chromosomal Location||38933144-38952912 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 38949173 bp (GRCm38)|
|Amino Acid Change||Glutamic Acid to Valine at position 106 (E106V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000132788 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000163313] [ENSMUST00000226440]|
AA Change: E106V
PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: E75V
PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified by gene expression studies in patients with acute myeloid leukemia (AML). The gene is conserved among mammals and is not found in lower organisms. Tissues that express this gene develop from the neuroectoderm. Multiple alternatively spliced transcript variants that encode different proteins have been described for this gene; however, some of the transcript variants are found only in AML cell lines. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Baalc||
(F):5'- ACCTGGCCTTATATGCATGAG -3'
(R):5'- TGATAAACAGGAAACCGAGATGTTC -3'
(F):5'- ATGCATGAGTCCTTGTAGGTCATTCC -3'
(R):5'- ATGTTCGTCACAGCGTTGG -3'