Incidental Mutation 'IGL02706:Zdhhc8'
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: 0.632) question?
Stock #IGL02706
Quality Score
Chromosomal Location18220753-18235136 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 18224894 bp
Amino Acid Change Leucine to Isoleucine at position 481 (L481I)
Ref Sequence ENSEMBL: ENSMUSP00000076224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076957] [ENSMUST00000231369] [ENSMUST00000231860] [ENSMUST00000231965]
Predicted Effect probably damaging
Transcript: ENSMUST00000076957
AA Change: L481I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000076224
Gene: ENSMUSG00000060166
AA Change: L481I

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,298,992 E781G probably benign Het
Abcc8 C T 7: 46,166,921 R265Q probably benign Het
Agtr1b A T 3: 20,315,863 I193N probably benign Het
Atp6v1e2 A G 17: 86,944,934 I12T probably damaging Het
Cacna1g T C 11: 94,456,992 T757A probably damaging Het
Cldn15 A G 5: 136,974,831 K200R probably benign Het
Dip2b G T 15: 100,215,311 V1302F probably damaging Het
Dnajb6 T A 5: 29,752,423 Y68N probably damaging Het
Dok1 T A 6: 83,032,334 E179V probably damaging Het
Epha4 T C 1: 77,426,845 T342A probably damaging Het
Etf1 A T 18: 34,931,637 S6R possibly damaging Het
Fryl T C 5: 73,093,163 I987V probably benign Het
Gba2 C T 4: 43,567,257 G897S probably benign Het
Habp2 G T 19: 56,310,138 probably null Het
Hapln1 G T 13: 89,605,459 S248I possibly damaging Het
Hydin A G 8: 110,410,566 D667G probably damaging Het
Kcnma1 T A 14: 23,309,154 H1074L probably damaging Het
Kctd9 T C 14: 67,724,681 probably null Het
L3mbtl4 A G 17: 68,486,919 D306G probably damaging Het
Lgalsl T C 11: 20,830,090 R49G probably damaging Het
Lpo C T 11: 87,817,773 S133N probably benign Het
Lrp8 A T 4: 107,803,319 R59* probably null Het
Mctp1 T C 13: 76,823,069 F629S probably damaging Het
Med1 A G 11: 98,156,707 probably benign Het
Nbea T C 3: 56,037,278 H555R probably damaging Het
Nedd1 T C 10: 92,686,285 H630R possibly damaging Het
Nr3c2 A T 8: 76,908,416 probably null Het
Nubp2 A T 17: 24,883,197 V267E probably benign Het
Oacyl A T 18: 65,749,721 Y629F probably damaging Het
Olfr1475 A T 19: 13,480,098 Y33* probably null Het
Olfr353 A G 2: 36,890,719 I43T probably damaging Het
Olfr54 T A 11: 51,027,264 H87Q probably damaging Het
Pknox2 T C 9: 36,936,379 H114R probably benign Het
Ppp2r1b A G 9: 50,878,834 D564G possibly damaging Het
Ppp3ca T G 3: 136,905,318 N367K possibly damaging Het
Ptprn2 T C 12: 116,888,898 V525A probably damaging Het
Reps1 T G 10: 18,123,015 probably benign Het
Rgs11 G A 17: 26,207,631 V279I probably benign Het
Sipa1l1 A G 12: 82,397,433 I973V possibly damaging Het
Ssh2 T A 11: 77,453,406 V739D possibly damaging Het
Tbc1d24 A G 17: 24,185,421 F250L probably benign Het
Ube3a T A 7: 59,272,133 H84Q possibly damaging Het
Usp34 T C 11: 23,388,659 probably benign Het
Zfp574 A G 7: 25,081,365 H604R probably damaging Het
Zfp945 A T 17: 22,857,282 M63K probably damaging Het
Other mutations in Zdhhc8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00338:Zdhhc8 APN 16 18225196 missense possibly damaging 0.66
IGL01994:Zdhhc8 APN 16 18227772 unclassified probably benign
IGL02102:Zdhhc8 APN 16 18225199 missense possibly damaging 0.95
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
Posted On2015-04-16