|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 #||R3913 (G1)|
|Chromosomal Location||18220753-18235136 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 18226723 bp|
|Amino Acid Change||Leucine to Proline at position 311 (L311P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000076224 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000076957]|
|Predicted Effect||possibly damaging
AA Change: L311P
PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: L311P
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||100% (59/59)|
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'- ACTGATAGGGCACTCTCTGAG -3'
(R):5'- TATGCATGTGTCCAAAGCCAC -3'
(F):5'- TCTCTGAGAAGAGGGACCACAGTC -3'
(R):5'- TATCTAATTCCAGCACTCGGGAGG -3'