|Institutional Source||Beutler Lab|
|Gene Name||neurogenic differentiation 6|
|Synonyms||Atoh2, Nex, Math2, Nex1m, bHLHa2, Math-2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0446 (G1)|
|Chromosomal Location||55677822-55681263 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 55679629 bp|
|Amino Acid Change||Glutamic Acid to Lysine at position 8 (E8K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000047016 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044767]|
|Predicted Effect||probably benign
AA Change: E8K
PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
AA Change: E8K
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the NEUROD family of basic helix-loop-helix transcription factors. The encoded protein may be involved in the development and differentiation of the nervous system. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable and fertile and exhibit an apparently normal differentiation of CNS neurons with no obvious behavioral or motor abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Neurod6||
(F):5'- GACCCTTTCCAGTCGTAGTTTGGTG -3'
(R):5'- CCTCCGTTTGTTAGCTTAAGGGAGAGA -3'
(F):5'- tcttcttcctctctgtcttcttc -3'
(R):5'- GGCTTCTGCATAGATCAATGTC -3'