Incidental Mutation 'IGL01812:Zdhhc17'
ID154282
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zdhhc17
Ensembl Gene ENSMUSG00000035798
Gene Namezinc finger, DHHC domain containing 17
SynonymsHip14, A230053P19Rik, D130071N24Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01812
Quality Score
Status
Chromosome10
Chromosomal Location110941780-111010140 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 110948217 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 466 (H466L)
Ref Sequence ENSEMBL: ENSMUSP00000043279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041723]
Predicted Effect possibly damaging
Transcript: ENSMUST00000041723
AA Change: H466L

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000043279
Gene: ENSMUSG00000035798
AA Change: H466L

DomainStartEndE-ValueType
Blast:ANK 57 85 2e-8 BLAST
ANK 89 118 6.71e-2 SMART
ANK 123 152 1.99e-4 SMART
ANK 156 185 1.61e-4 SMART
ANK 189 219 1.9e-1 SMART
ANK 224 253 1.53e-5 SMART
Blast:ANK 257 286 2e-11 BLAST
transmembrane domain 305 323 N/A INTRINSIC
transmembrane domain 328 350 N/A INTRINSIC
transmembrane domain 357 379 N/A INTRINSIC
transmembrane domain 384 403 N/A INTRINSIC
Pfam:zf-DHHC 434 570 1e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217698
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217982
Predicted Effect probably benign
Transcript: ENSMUST00000220247
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit reminiscent of Huntington disease (decreased body weight, impaired coordination, hyperactivity, increased rearing, decreased prepulse inhibition, increased stereotypic behavior, reduced striatum, and decreased brain weight). [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik T A 1: 37,625,365 D484V probably benign Het
4931428F04Rik C T 8: 105,284,657 probably benign Het
Alpk3 A G 7: 81,100,202 Y1456C probably damaging Het
Apobr A G 7: 126,587,922 D840G probably damaging Het
Cd300lf T C 11: 115,120,288 R175G probably damaging Het
Chil5 A G 3: 106,017,152 S426P possibly damaging Het
Cngb3 T G 4: 19,461,728 I536M possibly damaging Het
Cyp4f15 G A 17: 32,686,157 R38H probably benign Het
Ddb1 A C 19: 10,613,018 E303A probably damaging Het
Dis3l T A 9: 64,310,237 E822V probably benign Het
Erich3 T C 3: 154,713,971 V234A possibly damaging Het
Evi5l T C 8: 4,193,219 probably null Het
Exoc4 T C 6: 33,757,959 probably benign Het
Fam172a T A 13: 77,761,847 L27* probably null Het
Ganc A G 2: 120,411,526 I62V probably benign Het
Itpkb T C 1: 180,420,286 F823S probably damaging Het
Izumo2 A G 7: 44,709,095 N14S possibly damaging Het
Nbas T C 12: 13,453,503 C1545R probably damaging Het
Olfr1213 A T 2: 88,973,524 Y122* probably null Het
Pds5b A T 5: 150,780,689 R852S probably damaging Het
Polh G A 17: 46,172,911 A476V probably benign Het
Prune2 T A 19: 17,003,777 D99E possibly damaging Het
Tdrd6 A G 17: 43,625,174 V1661A probably benign Het
Tor1aip2 A G 1: 156,059,539 S7G probably benign Het
Vps13a A G 19: 16,715,060 V830A probably benign Het
Vps39 G A 2: 120,320,790 probably benign Het
Other mutations in Zdhhc17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01546:Zdhhc17 APN 10 110946193 missense probably damaging 1.00
IGL01948:Zdhhc17 APN 10 110946276 missense possibly damaging 0.56
IGL02002:Zdhhc17 APN 10 110967689 missense probably benign
IGL03263:Zdhhc17 APN 10 110961016 missense probably damaging 1.00
R0153:Zdhhc17 UTSW 10 110955094 nonsense probably null
R0375:Zdhhc17 UTSW 10 110982106 nonsense probably null
R0436:Zdhhc17 UTSW 10 110981990 splice site probably null
R1452:Zdhhc17 UTSW 10 110955075 missense probably benign 0.04
R1496:Zdhhc17 UTSW 10 110946210 missense probably damaging 0.99
R1528:Zdhhc17 UTSW 10 110948189 critical splice donor site probably null
R1856:Zdhhc17 UTSW 10 110947293 splice site probably null
R2119:Zdhhc17 UTSW 10 110982048 missense possibly damaging 0.92
R3747:Zdhhc17 UTSW 10 110944420 missense probably benign 0.24
R4900:Zdhhc17 UTSW 10 110985958 missense possibly damaging 0.95
R5647:Zdhhc17 UTSW 10 110973833 missense probably damaging 1.00
R5758:Zdhhc17 UTSW 10 110944395 makesense probably null
R6228:Zdhhc17 UTSW 10 110956355 missense probably benign 0.01
R6823:Zdhhc17 UTSW 10 110955111 missense possibly damaging 0.91
R7172:Zdhhc17 UTSW 10 111009948 missense possibly damaging 0.82
R7874:Zdhhc17 UTSW 10 110982117 missense possibly damaging 0.93
Z1088:Zdhhc17 UTSW 10 110945466 splice site probably null
Posted On2014-02-04