|Institutional Source||Beutler Lab|
|Gene Name||hairy/enhancer-of-split related with YRPW motif 1|
|Synonyms||HRT1, CHF2, hesr-1, bHLHb31, Herp2, Hesr1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8508 (G1)|
|Chromosomal Location||8663359-8667256 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to C at 8664776 bp|
|Amino Acid Change||Alanine to Glycine at position 207 (A207G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000038014 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000042412]|
|Predicted Effect||probably benign
AA Change: A207G
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: A207G
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear protein belonging to the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcriptional repressors. Expression of this gene is induced by the Notch and c-Jun signal transduction pathways. Two similar and redundant genes in mouse are required for embryonic cardiovascular development, and are also implicated in neurogenesis and somitogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are healthy and fertile with no major developmental defects. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hey1||
(F):5'- ATAGGGCTTGCCAAGGTTTG -3'
(R):5'- TTGAAGGACTCGATGCCTCC -3'
(F):5'- TGCCAAGGTTTGCTGCC -3'
(R):5'- ACTCGATGCCTCCGACCC -3'