|Institutional Source||Beutler Lab|
|Gene Name||hypermethylated in cancer 1|
|Is this an essential gene?||Possibly non essential (E-score: 0.379)|
|Stock #||RF029 (G1)|
|Chromosomal Location||75164565-75169519 bp(-) (GRCm38)|
|Type of Mutation||small deletion (1 aa in frame mutation)|
|DNA Base Change (assembly)||CGGGGGGGGGG to CGGGGGGG at 75169442 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000053483 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000055619]|
|AlphaFold||no structure available at present|
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene functions as a growth regulatory and tumor repressor gene. Hypermethylation or deletion of the region of this gene have been associated with tumors and the contiguous-gene syndrome, Miller-Dieker syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2010]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit varying abnormalities, such as acrania, exencephaly, cleft palate, limb defects, and omphalocele, and die perinatally. Heterozygotes develop tumors, including lymphomas, sarcomas, and epithelial cancers. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hic1||
(F):5'- ACACTCTTATCTGGAGCGGC -3'
(R):5'- TCGTAGTGTTCCACCCCAAC -3'
(F):5'- TTATCTGGAGCGGCCCGAAC -3'
(R):5'- CCAACCCCTTTTCTAAGATAGGG -3'