|Institutional Source||Beutler Lab|
|Gene Name||basic helix-loop-helix family, member e22|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3981 (G1)|
|Chromosomal Location||18054174-18057517 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 18054894 bp|
|Amino Acid Change||Arginine to Leucine at position 36 (R36L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026120 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026120]|
|Predicted Effect||probably damaging
AA Change: R36L
PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: R36L
|Meta Mutation Damage Score||0.086|
|Coding Region Coverage||
|Validation Efficiency||98% (58/59)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the basic helix-loop-helix (bHLH) family of transcription factors that regulate cell fate determination, proliferation, and differentiation. A similar protein in mouse is required for the development of the dorsal cochlear nuclei, and is thought to play a role in in the differentiation of neurons involved in sensory input. The mouse protein also functions in retinogenesis. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a null mutation are slow to gain weight, develop skin lesions, have reduced numbers of specific subtypes of amacrine and cone bipolar cells, and exhibit abnormal innervation of the corticospinal tract. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bhlhe22||
(F):5'- ATGGTGAGCCTTAGCAGC -3'
(R):5'- ACCATGCAAGTGGGCGTTG -3'
(F):5'- CAGCAGCTCCGGAACCC -3'
(R):5'- GTACTTGAGGCACAGGGC -3'