|Institutional Source||Beutler Lab|
|Gene Name||DEP domain containing 5|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6336 (G1)|
|Chromosomal Location||32863701-32994236 bp(+) (GRCm38)|
|Type of Mutation||splice site (6 bp from exon)|
|DNA Base Change (assembly)||T to C at 32964507 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000118681 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000130461]|
|Predicted Effect||probably null
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||98% (45/46)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this gene is a component of the GATOR1 (GAP activity toward Rags) complex which inhibits the amino acid-sensing branch of the mTORC1 pathway. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci. A single nucleotide polymorphism in an intron of this gene has been associated with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit preweaning lethality. Mice homozygous for a conditional allele activated in neurons exhibit reduced body weight, limb grasping, premature death, spontaneous seizure, increased brain size due to neuron hypertrophy and increased PTZ seizure susceptibility. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Depdc5||
(F):5'- GTCTAGGGTTACTGTGACTGAC -3'
(R):5'- CCAAAGGTCTGGTTGTTGCC -3'
(F):5'- ACTGTGACTGACTGGCTTC -3'
(R):5'- TGTGCTGACCCCTAAACTGGTG -3'