|Institutional Source||Beutler Lab|
|Gene Name||DENN/MADD domain containing 1C|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2216 (G1)|
|Chromosomal Location||57066056-57078510 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (1 bp from exon)|
|DNA Base Change (assembly)||C to T at 57074492 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000011623 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000011623]|
|Predicted Effect||probably null
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1C, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dennd1c||
(F):5'- TGGGAGCTACTCACCATCTCTG -3'
(R):5'- GTCGGCATGCACAAAGTTC -3'
(F):5'- TGATCTTCCTGAAAACCGGG -3'
(R):5'- TCGGCATGCACAAAGTTCTCAAAC -3'