|Institutional Source||Beutler Lab|
|Gene Name||notch 1|
|Synonyms||Tan1, 9930111A19Rik, Mis6, Motch A, lin-12, N1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5010 (G1)|
|Chromosomal Location||26457903-26516663 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 26476114 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 809 (D809E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028288 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028288] [ENSMUST00000132820]|
|Predicted Effect||possibly damaging
AA Change: D809E
PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: D809E
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||98% (65/66)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygotes for null alleles exhibit defects in embryonic development resulting in lethality at some point in organogenesis. Lethal phenotype may be affected by genetic background. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Notch1||
(F):5'- GTTTGCCCATCTGGTGACTATC -3'
(R):5'- AGCTAGCATTTCTCAGGCAG -3'
(F):5'- ATCTGGTGACTATCCCCAGG -3'
(R):5'- CAGGCAGAGATCCTAGTTCTCTTGAG -3'