Incidental Mutation 'IGL01812:Zdhhc17'
ID 154282
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zdhhc17
Ensembl Gene ENSMUSG00000035798
Gene Name zinc finger, DHHC domain containing 17
Synonyms Hip14, A230053P19Rik, D130071N24Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01812
Quality Score
Status
Chromosome 10
Chromosomal Location 110777641-110846001 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 110784078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 466 (H466L)
Ref Sequence ENSEMBL: ENSMUSP00000043279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041723]
AlphaFold Q80TN5
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
Alpk3 A G 7: 80,749,950 (GRCm39) Y1456C probably damaging Het
Apobr A G 7: 126,187,094 (GRCm39) D840G probably damaging Het
Arb2a T A 13: 77,909,966 (GRCm39) L27* probably null Het
Cd300lf T C 11: 115,011,114 (GRCm39) R175G probably damaging Het
Chil5 A G 3: 105,924,468 (GRCm39) S426P possibly damaging Het
Cngb3 T G 4: 19,461,728 (GRCm39) I536M possibly damaging Het
Cracdl T A 1: 37,664,446 (GRCm39) D484V probably benign Het
Cyp4f15 G A 17: 32,905,131 (GRCm39) R38H probably benign Het
Ddb1 A C 19: 10,590,382 (GRCm39) E303A probably damaging Het
Dis3l T A 9: 64,217,519 (GRCm39) E822V probably benign Het
Erich3 T C 3: 154,419,608 (GRCm39) V234A possibly damaging Het
Evi5l T C 8: 4,243,219 (GRCm39) probably null Het
Exoc4 T C 6: 33,734,894 (GRCm39) probably benign Het
Ganc A G 2: 120,242,007 (GRCm39) I62V probably benign Het
Itpkb T C 1: 180,247,851 (GRCm39) F823S probably damaging Het
Izumo2 A G 7: 44,358,519 (GRCm39) N14S possibly damaging Het
Matcap1 C T 8: 106,011,289 (GRCm39) probably benign Het
Nbas T C 12: 13,503,504 (GRCm39) C1545R probably damaging Het
Or4c108 A T 2: 88,803,868 (GRCm39) Y122* probably null Het
Pds5b A T 5: 150,704,154 (GRCm39) R852S probably damaging Het
Polh G A 17: 46,483,837 (GRCm39) A476V probably benign Het
Prune2 T A 19: 16,981,141 (GRCm39) D99E possibly damaging Het
Tdrd6 A G 17: 43,936,065 (GRCm39) V1661A probably benign Het
Tor1aip2 A G 1: 155,935,285 (GRCm39) S7G probably benign Het
Vps13a A G 19: 16,692,424 (GRCm39) V830A probably benign Het
Vps39 G A 2: 120,151,271 (GRCm39) probably benign Het
Other mutations in Zdhhc17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01546:Zdhhc17 APN 10 110,782,054 (GRCm39) missense probably damaging 1.00
IGL01948:Zdhhc17 APN 10 110,782,137 (GRCm39) missense possibly damaging 0.56
IGL02002:Zdhhc17 APN 10 110,803,550 (GRCm39) missense probably benign
IGL03263:Zdhhc17 APN 10 110,796,877 (GRCm39) missense probably damaging 1.00
R0153:Zdhhc17 UTSW 10 110,790,955 (GRCm39) nonsense probably null
R0375:Zdhhc17 UTSW 10 110,817,967 (GRCm39) nonsense probably null
R0436:Zdhhc17 UTSW 10 110,817,851 (GRCm39) splice site probably null
R1452:Zdhhc17 UTSW 10 110,790,936 (GRCm39) missense probably benign 0.04
R1496:Zdhhc17 UTSW 10 110,782,071 (GRCm39) missense probably damaging 0.99
R1528:Zdhhc17 UTSW 10 110,784,050 (GRCm39) critical splice donor site probably null
R1856:Zdhhc17 UTSW 10 110,783,154 (GRCm39) splice site probably null
R2119:Zdhhc17 UTSW 10 110,817,909 (GRCm39) missense possibly damaging 0.92
R3747:Zdhhc17 UTSW 10 110,780,281 (GRCm39) missense probably benign 0.24
R4900:Zdhhc17 UTSW 10 110,821,819 (GRCm39) missense possibly damaging 0.95
R5647:Zdhhc17 UTSW 10 110,809,694 (GRCm39) missense probably damaging 1.00
R5758:Zdhhc17 UTSW 10 110,780,256 (GRCm39) makesense probably null
R6228:Zdhhc17 UTSW 10 110,792,216 (GRCm39) missense probably benign 0.01
R6823:Zdhhc17 UTSW 10 110,790,972 (GRCm39) missense possibly damaging 0.91
R7172:Zdhhc17 UTSW 10 110,845,809 (GRCm39) missense possibly damaging 0.82
R7874:Zdhhc17 UTSW 10 110,817,978 (GRCm39) missense possibly damaging 0.93
R8353:Zdhhc17 UTSW 10 110,845,803 (GRCm39) missense probably benign 0.09
R8674:Zdhhc17 UTSW 10 110,785,540 (GRCm39) missense probably benign 0.25
R8676:Zdhhc17 UTSW 10 110,798,240 (GRCm39) intron probably benign
R8810:Zdhhc17 UTSW 10 110,784,121 (GRCm39) missense possibly damaging 0.85
R9014:Zdhhc17 UTSW 10 110,785,544 (GRCm39) missense probably benign 0.22
R9028:Zdhhc17 UTSW 10 110,796,934 (GRCm39) missense probably damaging 0.97
R9147:Zdhhc17 UTSW 10 110,785,503 (GRCm39) missense possibly damaging 0.83
R9148:Zdhhc17 UTSW 10 110,785,503 (GRCm39) missense possibly damaging 0.83
R9160:Zdhhc17 UTSW 10 110,783,189 (GRCm39) missense probably damaging 0.98
R9186:Zdhhc17 UTSW 10 110,780,281 (GRCm39) missense probably benign 0.24
R9360:Zdhhc17 UTSW 10 110,783,165 (GRCm39) missense probably benign 0.00
Z1088:Zdhhc17 UTSW 10 110,781,327 (GRCm39) splice site probably null
Posted On 2014-02-04