|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 #||R6128 (G1)|
|Chromosomal Location||18054174-18057517 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 18055823 bp|
|Amino Acid Change||Serine to Cysteine at position 346 (S346C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026120 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026120]|
|Predicted Effect||probably damaging
AA Change: S346C
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: S346C
|Coding Region Coverage||
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'- TAGTCGCCTACCTCAACCAAGG -3'
(R):5'- AAGGCTGAATGTCCGGTTTG -3'
(F):5'- TACCTCAACCAAGGCCAGG -3'
(R):5'- AATGTCCGGTTTGTCTCTGATAC -3'