|Institutional Source||Beutler Lab|
|Gene Name||zinc finger, DHHC domain containing 8|
|Synonyms||Op53c05, E330009O14Rik, D16H22S1738E|
|Is this an essential gene?||Possibly essential (E-score: 0.730)|
|Stock #||R5825 (G1)|
|Chromosomal Location||18220753-18235136 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 18228674 bp|
|Amino Acid Change||Serine to Glycine at position 63 (S63G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000076224 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000076957]|
|Predicted Effect||probably null
AA Change: S63G
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: S63G
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a four transmembrane protein that is a member of the zinc finger DHHC domain-containing protein family. The encoded protein may function as a palmitoyltransferase. Defects in this gene may be associated with a susceptibility to schizophrenia. Alternate splicing of this gene results in multiple transcript variants. A pseudogene of this gene is found on chromosome 22.[provided by RefSeq, May 2010]
PHENOTYPE: Homozygous null females display impaired prepulse inhibition and reduced exploration in new environments. Homozygous null males display normal prepulse inhibition and only a slight decrease in exploration. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Zdhhc8||
(F):5'- CGGAAGTCATCCTCCTTGTC -3'
(R):5'- GCCCAGAAGCATACATATGGC -3'
(F):5'- CGCTGGACATCAGGACCAGTAG -3'
(R):5'- AGCATACATATGGCTGCGTC -3'