|Institutional Source||Beutler Lab|
|Gene Name||mastermind like transcriptional coactivator 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7336 (G1)|
|Chromosomal Location||50255634-50292311 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 50266449 bp|
|Amino Acid Change||Alanine to Threonine at position 300 (A300T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000059210 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000059458]|
|Predicted Effect||possibly damaging
AA Change: A300T
PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: A300T
AA Change: A214T
|Coding Region Coverage||
|Validation Efficiency||99% (80/81)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein is the human homolog of mastermind, a Drosophila protein that plays a role in the Notch signaling pathway involved in cell-fate determination. There is in vitro evidence that the human homolog forms a complex with the intracellular portion of human Notch receptors and can increase expression of a Notch-induced gene. This evidence supports its proposed function as a transcriptional co-activator in the Notch signaling pathway. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display postnatal lethality, reduced size, and skeletal muscle degeneration and necrosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Maml1||
(F):5'- AACAGAGTCTGAGAGCTCCC -3'
(R):5'- AACTCAAGCAGGAGCCAGTG -3'
(F):5'- CAAGGCTTGGAGAATCTGTGCC -3'
(R):5'- ACCTGCCGTGCATGATC -3'