|Institutional Source||Beutler Lab|
|Gene Name||cytohesin 4|
|Synonyms||5830469K17Rik, 2510004M07Rik, Pscd4|
|Is this an essential gene?||Probably non essential (E-score: 0.103)|
|Stock #||R8253 (G1)|
|Chromosomal Location||78597047-78622019 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 78602737 bp|
|Amino Acid Change||Isoleucine to Valine at position 22 (I22V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000042698 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000043069]|
|Predicted Effect||probably benign
AA Change: I22V
PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
AA Change: I22V
|Coding Region Coverage||
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PSCD family of proteins, which have an N-terminal coiled-coil motif, a central Sec7 domain, and a C-terminal pleckstrin homology (PH) domain. The coiled-coil motif is involved in homodimerization, the Sec7 domain contains guanine-nucleotide exchange protein (GEP) activity, and the PH domain interacts with phospholipids and is responsible for association of PSCDs with membranes. Members of this family function as GEPs for ADP-ribosylation factors (ARFs), which are guanine nucleotide-binding proteins involved in vesicular trafficking pathways. This protein exhibits GEP activity in vitro with ARF1 and ARF5, but is inactive with ARF6. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cyth4||
(F):5'- ACCAGCATCATGGGTCTCAC -3'
(R):5'- TGAACATTTGGTCAGGAGAGTG -3'
(F):5'- ATCATGGGTCTCACTTTATTTCAGG -3'
(R):5'- CTTGTGGGCATATGTAGTTTAGCC -3'