|Institutional Source||Beutler Lab|
|Gene Name||hemicentin 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7048 (G1)|
|Chromosomal Location||150562524-150993435 bp(-) (GRCm38)|
|Type of Mutation||critical splice acceptor site|
|DNA Base Change (assembly)||T to C at 150599653 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000121500 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000074783] [ENSMUST00000137197]|
|AlphaFold||no structure available at present|
|Coding Region Coverage||
|Validation Efficiency||97% (66/68)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hmcn1||
(F):5'- TACGTCTCTCACCTGGACAG -3'
(R):5'- TGGCATTAGTTAAGCCTTCTGAATG -3'
(F):5'- GGACAGTGTCTCTCATTGCAGAC -3'
(R):5'- AGTTAAGCCTTCTGAATGTCCCTGG -3'