Incidental Mutation 'R0491:Zdhhc8'
ID42499
Institutional Source Beutler Lab
Gene Symbol Zdhhc8
Ensembl Gene ENSMUSG00000060166
Gene Namezinc finger, DHHC domain containing 8
SynonymsOp53c05, E330009O14Rik, D16H22S1738E
MMRRC Submission 038689-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.756) question?
Stock #R0491 (G1)
Quality Score225
Status Validated
Chromosome16
Chromosomal Location18220753-18235136 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 18228390 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 103 (M103K)
Ref Sequence ENSEMBL: ENSMUSP00000076224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076957]
Predicted Effect probably damaging
Transcript: ENSMUST00000076957
AA Change: M103K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000076224
Gene: ENSMUSG00000060166
AA Change: M103K

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: ENSMUST00000231412
Meta Mutation Damage Score 0.8346 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency 100% (65/65)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T A 15: 8,182,243 S356T probably damaging Het
Abca13 T C 11: 9,298,235 F2661L probably benign Het
Acadsb A G 7: 131,430,107 D224G probably benign Het
Acsm1 A G 7: 119,640,697 H288R probably damaging Het
Adamts2 A G 11: 50,776,630 D465G probably damaging Het
Akap9 A T 5: 3,972,851 probably benign Het
Alms1 A G 6: 85,702,600 T3240A probably damaging Het
Ap3d1 A G 10: 80,719,241 W417R probably damaging Het
Arfgef1 C A 1: 10,179,987 probably benign Het
Atf6 A G 1: 170,787,344 probably null Het
Cacna1s T A 1: 136,089,008 probably benign Het
Clcn1 T C 6: 42,310,581 F740L probably benign Het
Clec12a T A 6: 129,364,053 D265E probably benign Het
Clic3 T A 2: 25,457,785 probably benign Het
Cntnap3 T G 13: 64,762,045 T749P probably benign Het
Col11a2 T A 17: 34,042,212 D45E probably null Het
Crxos T A 7: 15,898,535 S89T probably benign Het
Cxcr1 G T 1: 74,192,309 P185T possibly damaging Het
Cyp20a1 T A 1: 60,371,327 N262K possibly damaging Het
Dpy19l2 T C 9: 24,696,028 R46G probably benign Het
Dpysl2 A T 14: 66,807,962 L454Q probably damaging Het
Dvl3 C T 16: 20,527,423 probably benign Het
Eppin T A 2: 164,589,412 E98V possibly damaging Het
Fancm A T 12: 65,106,061 H1097L probably benign Het
Fkbp4 A G 6: 128,435,742 I75T probably damaging Het
Fmn2 A G 1: 174,581,959 H586R unknown Het
Gm973 C T 1: 59,558,234 probably benign Het
Haus6 A C 4: 86,602,846 V185G possibly damaging Het
Herc2 T A 7: 56,122,366 C1098S possibly damaging Het
Hic1 C A 11: 75,166,310 L584F possibly damaging Het
Itgb1bp1 C A 12: 21,276,895 probably benign Het
Kbtbd2 G A 6: 56,780,389 R121* probably null Het
Lgr4 C T 2: 110,007,281 probably benign Het
Lrrc55 T C 2: 85,191,920 E309G probably damaging Het
Mertk T C 2: 128,793,107 probably null Het
Micu3 A G 8: 40,366,253 probably benign Het
Mmp11 G A 10: 75,926,758 A287V probably benign Het
Mpzl2 A G 9: 45,042,741 Y47C probably damaging Het
Muc5b A C 7: 141,862,015 R2899S probably benign Het
Myo1b A G 1: 51,755,698 Y1078H probably benign Het
Naip1 A T 13: 100,423,219 D1092E probably benign Het
Ncapd3 T G 9: 27,057,883 V611G probably damaging Het
Ntpcr C T 8: 125,737,354 R73* probably null Het
Olfr1225 A T 2: 89,170,360 V284E probably benign Het
Olfr1475 G A 19: 13,479,493 A235V probably damaging Het
Osbp2 A G 11: 3,714,709 F88S probably damaging Het
Pkn3 A T 2: 30,089,877 T711S probably damaging Het
Plekhm1 T C 11: 103,394,776 K278E probably benign Het
Ppp1r36 A G 12: 76,439,291 T408A probably benign Het
Prss41 T C 17: 23,842,503 T105A possibly damaging Het
Psme1 G T 14: 55,579,921 probably benign Het
Ptprq A T 10: 107,608,175 Y1523N probably damaging Het
Ric8b A G 10: 84,992,222 D470G probably damaging Het
Scarb1 A G 5: 125,298,731 probably benign Het
Slc25a54 G A 3: 109,102,796 A204T probably damaging Het
Spink10 T C 18: 62,659,965 C67R probably damaging Het
St5 T A 7: 109,557,204 Q113L probably benign Het
Tmtc1 A T 6: 148,412,640 probably null Het
Tprkb A G 6: 85,924,464 D28G probably benign Het
Ttll13 A G 7: 80,260,350 H747R probably benign Het
Usp24 A G 4: 106,402,105 S1608G probably benign Het
Utp20 A T 10: 88,760,912 F2115L probably damaging Het
Vmn1r200 A T 13: 22,395,191 I46L probably benign Het
Zfp595 C T 13: 67,317,305 G298E probably damaging Het
Zfp738 T G 13: 67,670,021 H617P possibly damaging Het
Zfp9 A T 6: 118,465,202 H166Q probably damaging Het
Zp3r C A 1: 130,618,334 D80Y 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
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
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
Predicted Primers PCR Primer
(F):5'- GCGTCCAATGCAGTTGTTGACC -3'
(R):5'- GGCCAACTTCAGTATGGCTACCTTC -3'

Sequencing Primer
(F):5'- AGTTGTTGACCCAGGGGC -3'
(R):5'- CTGTATGGGGCAGCTCATC -3'
Posted On2013-05-23