|Institutional Source||Beutler Lab|
|Gene Name||hairy/enhancer-of-split related with YRPW motif-like|
|Synonyms||Hrt3, bHLHb33, Hey3, Hesr3|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2044 (G1)|
|Chromosomal Location||123233556-123249875 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 123241363 bp (GRCm38)|
|Amino Acid Change||Isoleucine to Phenylalanine at position 50 (I50F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000040576 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040821]|
AA Change: I50F
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: I50F
|Meta Mutation Damage Score||0.2661|
|Coding Region Coverage||
|Validation Efficiency||98% (92/94)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the hairy and enhancer of split-related (HESR) family of basic helix-loop-helix (bHLH)-type transcription factors. The sequence of the encoded protein contains a conserved bHLH and orange domain, but its YRPW motif has diverged from other HESR family members. It is thought to be an effector of Notch signaling and a regulator of cell fate decisions. Alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced TrkC+ sensory neurons in the dorsal root ganglia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Heyl||
(F):5'- GATGGGCAGTAAATATTGTCCCT -3'
(R):5'- CAGGCAGTAGGAGATGCCGT -3'
(F):5'- TGAGTGCTAGTCCCAGCTCTAAG -3'
(R):5'- GAGATGCCGTGAGAACCACAC -3'