Incidental Mutation 'IGL03287:Zdhhc8'
ID415767
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: 0.750) question?
Stock #IGL03287
Quality Score
Status
Chromosome16
Chromosomal Location18220753-18235136 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 18225100 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 412 (Y412C)
Ref Sequence ENSEMBL: ENSMUSP00000076224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076957] [ENSMUST00000231369] [ENSMUST00000231860] [ENSMUST00000231965]
Predicted Effect probably benign
Transcript: ENSMUST00000076957
AA Change: Y412C

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000076224
Gene: ENSMUSG00000060166
AA Change: Y412C

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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik A T 5: 114,870,176 D17V probably damaging Het
Cdh5 T A 8: 104,128,115 V225E probably damaging Het
Cfap52 C T 11: 67,935,976 probably benign Het
Cib4 A G 5: 30,488,543 L127P probably benign Het
Fbln2 A G 6: 91,233,494 H140R probably damaging Het
Grm8 A G 6: 27,760,255 F359L possibly damaging Het
Kat7 A T 11: 95,300,109 D150E probably damaging Het
Kif1b A G 4: 149,214,981 I944T possibly damaging Het
Krt87 T C 15: 101,432,337 probably benign Het
Mast1 T C 8: 84,913,353 S1142G probably benign Het
Neb A G 2: 52,137,323 Y6889H probably damaging Het
Olfr1 A T 11: 73,396,019 M1K probably null Het
Olfr1337 A G 4: 118,782,354 V77A possibly damaging Het
Plk4 A T 3: 40,805,118 I150L probably benign Het
Scn5a T C 9: 119,489,778 D1598G probably damaging Het
Skor2 A G 18: 76,876,135 K925E probably damaging Het
Slc25a29 A T 12: 108,831,209 F22L possibly damaging Het
Slc27a2 A G 2: 126,553,392 T80A probably damaging Het
Tlr3 A G 8: 45,402,780 V121A probably benign Het
Tubgcp3 A T 8: 12,639,630 D545E possibly damaging Het
Zmynd12 A G 4: 119,453,579 E328G 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
IGL02706:Zdhhc8 APN 16 18224894 missense probably damaging 1.00
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 On2016-08-02