Incidental Mutation 'IGL00338:Zdhhc8'
ID3997
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zdhhc8
Ensembl Gene ENSMUSG00000060166
Gene Namezinc finger, DHHC domain containing 8
SynonymsOp53c05, E330009O14Rik, D16H22S1738E
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.673) question?
Stock #IGL00338
Quality Score
Status
Chromosome16
Chromosomal Location18220753-18235136 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 18225196 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 380 (L380P)
Ref Sequence ENSEMBL: ENSMUSP00000076224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076957] [ENSMUST00000231369] [ENSMUST00000231860] [ENSMUST00000231965]
Predicted Effect possibly damaging
Transcript: ENSMUST00000076957
AA Change: L380P

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000076224
Gene: ENSMUSG00000060166
AA Change: L380P

DomainStartEndE-ValueType
transmembrane domain 15 34 N/A INTRINSIC
transmembrane domain 46 68 N/A INTRINSIC
Pfam:zf-DHHC 99 224 4.8e-36 PFAM
low complexity region 304 318 N/A INTRINSIC
low complexity region 404 417 N/A INTRINSIC
low complexity region 509 524 N/A INTRINSIC
low complexity region 551 563 N/A INTRINSIC
low complexity region 619 644 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000231369
Predicted Effect probably benign
Transcript: ENSMUST00000231412
Predicted Effect probably benign
Transcript: ENSMUST00000231860
Predicted Effect probably benign
Transcript: ENSMUST00000231965
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd11 A G 5: 135,011,985 D217G probably benign Het
Ankar T A 1: 72,690,131 Y285F probably damaging Het
Ano8 C A 8: 71,484,258 probably benign Het
Bche A G 3: 73,701,307 V262A probably benign Het
Car13 T C 3: 14,656,904 probably benign Het
Cd244 T A 1: 171,574,370 probably null Het
Cfap157 T C 2: 32,781,383 D137G probably damaging Het
Cobl T C 11: 12,375,813 R119G possibly damaging Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gp2 A G 7: 119,454,390 M116T probably damaging Het
Gp5 C A 16: 30,308,822 A345S probably benign Het
Gphn A T 12: 78,504,632 I285F probably damaging Het
Heatr5b A G 17: 78,803,434 V995A probably damaging Het
Hecw2 T C 1: 53,827,881 probably benign Het
Hydin C A 8: 110,569,802 N3654K possibly damaging Het
Inpp5b A G 4: 124,784,375 Y440C possibly damaging Het
Olfr1256 A T 2: 89,835,458 Y162* probably null Het
Pphln1 A G 15: 93,465,210 K306E probably damaging Het
Rnf26 A C 9: 44,112,859 S31A probably benign Het
Ros1 A T 10: 52,125,811 S1072T probably benign Het
Skiv2l A G 17: 34,846,667 W304R probably damaging Het
Slc22a14 A G 9: 119,178,513 F277L possibly damaging Het
Slc22a26 A T 19: 7,782,975 L468I probably benign Het
Tchh C T 3: 93,447,644 L1464F unknown Het
Tmem260 C T 14: 48,477,636 T249M probably damaging Het
Ttn A G 2: 76,974,065 S288P probably damaging Het
Usp17lc A G 7: 103,418,941 H481R possibly damaging Het
Vps50 C T 6: 3,602,670 T929M probably benign Het
Other mutations in Zdhhc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01994:Zdhhc8 APN 16 18227772 unclassified probably benign
IGL02102:Zdhhc8 APN 16 18225199 missense possibly damaging 0.95
IGL02706:Zdhhc8 APN 16 18224894 missense probably damaging 1.00
IGL03287:Zdhhc8 APN 16 18225100 missense probably benign 0.01
IGL03296:Zdhhc8 APN 16 18226723 missense possibly damaging 0.94
R0066:Zdhhc8 UTSW 16 18225200 missense probably benign 0.00
R0066:Zdhhc8 UTSW 16 18225200 missense probably benign 0.00
R0491:Zdhhc8 UTSW 16 18228390 missense probably damaging 0.99
R0838:Zdhhc8 UTSW 16 18224566 missense probably damaging 0.99
R1567:Zdhhc8 UTSW 16 18227120 missense probably benign 0.36
R2057:Zdhhc8 UTSW 16 18228346 missense probably damaging 1.00
R3913:Zdhhc8 UTSW 16 18226723 missense possibly damaging 0.94
R4690:Zdhhc8 UTSW 16 18226741 missense probably damaging 0.96
R4902:Zdhhc8 UTSW 16 18227166 missense probably benign
R5111:Zdhhc8 UTSW 16 18226748 missense probably benign 0.00
R5825:Zdhhc8 UTSW 16 18228674 missense probably null 0.99
R6111:Zdhhc8 UTSW 16 18224898 missense probably damaging 1.00
R6152:Zdhhc8 UTSW 16 18223338 missense possibly damaging 0.90
R7296:Zdhhc8 UTSW 16 18234926 missense probably benign 0.00
R7450:Zdhhc8 UTSW 16 18225171 missense probably benign 0.00
R7540:Zdhhc8 UTSW 16 18227810 missense probably damaging 1.00
Posted On2012-04-20