|Institutional Source||Beutler Lab|
|Gene Name||myeloblastosis oncogene-like 2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7451 (G1)|
|Chromosomal Location||163054687-163084688 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 163072706 bp|
|Amino Acid Change||Threonine to Isoleucine at position 248 (T248I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000018005 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000018005] [ENSMUST00000142729]|
|Predicted Effect||possibly damaging
AA Change: T248I
PolyPhen 2 Score 0.859 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: T248I
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.0718|
|Coding Region Coverage||
|Validation Efficiency||100% (84/84)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, a member of the MYB family of transcription factor genes, is a nuclear protein involved in cell cycle progression. The encoded protein is phosphorylated by cyclin A/cyclin-dependent kinase 2 during the S-phase of the cell cycle and possesses both activator and repressor activities. It has been shown to activate the cell division cycle 2, cyclin D1, and insulin-like growth factor-binding protein 5 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos shortly after implantation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Mybl2||
(F):5'- AGTGCTCAGTACAGTTGAAATGTC -3'
(R):5'- AGTCCAGAGCTTCAGAGAGG -3'
(F):5'- GTCCCTGTGAGTTCCTTTGATGC -3'
(R):5'- AGCTTCAGAGAGGCTGGACC -3'