|Institutional Source||Beutler Lab|
|Gene Name||nescient helix loop helix 1|
|Synonyms||Hen1, Nscl, bHLHa35, Tal2, Nscl|
|Is this an essential gene?||Possibly essential (E-score: 0.516)|
|Stock #||R5069 (G1)|
|Chromosomal Location||172052292-172057573 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 172053900 bp|
|Amino Acid Change||Valine to Alanine at position 133 (V133A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000057489 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000059794]|
|Predicted Effect||probably benign
AA Change: V133A
PolyPhen 2 Score 0.230 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: V133A
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The helix-loop-helix (HLH) proteins are a family of putative transcription factors, some of which have been shown to play an important role in growth and development of a wide variety of tissues and species. Four members of this family have been clearly implicated in tumorigenesis via their involvement in chromosomal translocations in lymphoid tumors: MYC (MIM 190080), LYL1 (MIM 151440), E2A (MIM 147141), and SCL (MIM 187040).[supplied by OMIM, Nov 2002]
PHENOTYPE: Homozygous targeted null mutants show cardiac arrhythmia and lack a heart rate response to water immersion. Adults are subject to sudden death, probably due to poor parasympathetic tone. Homozygotes for another targeted mutation had no abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nhlh1||
(F):5'- AAGAACATCCTTCACATTCCTGGG -3'
(R):5'- AGCACTTGAGTCGTGAGGAG -3'
(F):5'- TTCACATTCCTGGGCCAATGAAAAG -3'
(R):5'- TTGAGTCGTGAGGAGCGCAG -3'