|Institutional Source||Beutler Lab|
|Gene Name||achaete-scute family bHLH transcription factor 1|
|Synonyms||Mash1, ASH1, bHLHa46|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5387 (G1)|
|Chromosomal Location||87490819-87493660 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 87492689 bp|
|Amino Acid Change||Alanine to Threonine at position 134 (A134T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020243 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020243]|
|Predicted Effect||probably damaging
AA Change: A134T
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: A134T
|Meta Mutation Damage Score||0.354|
|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 gene encodes a member of the basic helix-loop-helix (BHLH) family of transcription factors. The protein activates transcription by binding to the E box (5'-CANNTG-3'). Dimerization with other BHLH proteins is required for efficient DNA binding. This protein plays a role in the neuronal commitment and differentiation and in the generation of olfactory and autonomic neurons. Mutations in this gene may contribute to the congenital central hypoventilation syndrome (CCHS) phenotype in rare cases. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants show impaired development of olfactory, sympathetic, parasympathetic, and enteric ganglia, lung neuroendocrine and adrenal chromaffin cells, and various brain centers, and die at birth with feeding and breathing problems. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ascl1||
(F):5'- GCCATAGAGTTCAAGTCGTTG -3'
(R):5'- CTCTGGCAAGATGGAGAGTG -3'
(F):5'- CCATAGAGTTCAAGTCGTTGGAGTAG -3'
(R):5'- GTCACAAGTCAGCGGCCAAG -3'