|Institutional Source||Beutler Lab|
|Gene Name||deleted in liver cancer 1|
|Synonyms||Arhgap7, A730069N07Rik, STARD12, p122-RhoGAP|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R9031 (G1)|
|Chromosomal Location||36567751-36953143 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 36937901 bp (GRCm38)|
|Amino Acid Change||Serine to Proline at position 245 (S245P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000132812 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000163663] [ENSMUST00000179501]|
|AlphaFold||no structure available at present|
AA Change: S245P
PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
AA Change: S245P
|Coding Region Coverage||
|Validation Efficiency||100% (81/81)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a GTPase-activating protein (GAP) that is a member of the rhoGAP family of proteins which play a role in the regulation of small GTP-binding proteins. GAP family proteins participate in signaling pathways that regulate cell processes involved in cytoskeletal changes. This gene functions as a tumor suppressor gene in a number of common cancers, including prostate, lung, colorectal, and breast cancers. Multiple transcript variants due to alternative promoters and alternative splicing have been found for this gene.[provided by RefSeq, Apr 2010]
PHENOTYPE: Homozygous mutants die by E10.5 with variable defects in the neural tube, heart, brain and placenta. Mouse embryonic fibroblasts homozygous for an activated conditional allele exhibti increased sensitivity to Ras-induced transformation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dlc1||
(F):5'- TTCTGCTGACATCCCACCAG -3'
(R):5'- TCTCCAGCAGAAGGAAGTGG -3'
(F):5'- CCACCAGGGCAGGAAGG -3'
(R):5'- TGTTGAGGCTATAAATAAAAGCCTGG -3'