|Institutional Source||Beutler Lab|
|Gene Name||Rho guanine nucleotide exchange factor (GEF) 12|
|Essential gene?||Probably essential (E-score: 0.952)|
|Stock #||R0426 (G1)|
|Chromosomal Location||42963842-43107239 bp(-) (GRCm38)|
|Type of Mutation||splice site (3 bp from exon)|
|DNA Base Change (assembly)||T to C at 42970990 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000126598 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000072767] [ENSMUST00000165665]|
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||96% (86/90)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased sensitivity to certain vasoconstrictors and resistance to salt-induced hypertension. Mice homozygous for a different knock-out allele exhibit partial prenatal lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Arhgef12||
(F):5'- TGATTGACAGCCACGAAAGCCC -3'
(R):5'- AGCAACATTCCCCTCAGAATGTGC -3'
(F):5'- TGGAAACCAACTGACCCAGTATTTAG -3'
(R):5'- GTTTCACCATTCACCCCAGA -3'