Incidental Mutation 'IGL03263:Zdhhc17'
ID 414957
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 # IGL03263
Quality Score
Status
Chromosome 10
Chromosomal Location 110777641-110846001 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110796877 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 298 (D298G)
Ref Sequence ENSEMBL: ENSMUSP00000043279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041723]
AlphaFold Q80TN5
Predicted Effect probably damaging
Transcript: ENSMUST00000041723
AA Change: D298G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000043279
Gene: ENSMUSG00000035798
AA Change: D298G

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: ENSMUST00000099285
SMART Domains Protein: ENSMUSP00000096889
Gene: ENSMUSG00000035798

DomainStartEndE-ValueType
ANK 79 108 6.71e-2 SMART
ANK 113 142 1.99e-4 SMART
ANK 146 175 1.61e-4 SMART
ANK 179 209 1.9e-1 SMART
ANK 214 243 1.53e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217698
Predicted Effect probably benign
Transcript: ENSMUST00000218895
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218972
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T A 5: 138,562,499 (GRCm39) I81F probably damaging Het
Acacb C T 5: 114,351,754 (GRCm39) H1164Y probably damaging Het
Adamts5 A T 16: 85,666,830 (GRCm39) V554E probably damaging Het
Asns G A 6: 7,689,404 (GRCm39) R33C probably benign Het
BC051076 T G 5: 88,111,977 (GRCm39) noncoding transcript Het
Bcas3 C T 11: 85,712,948 (GRCm39) probably benign Het
Bpifb1 A G 2: 154,057,226 (GRCm39) M395V probably benign Het
Cdcp1 C A 9: 123,009,152 (GRCm39) V509L probably benign Het
Cdhr2 A G 13: 54,865,926 (GRCm39) T277A possibly damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Clca4a T A 3: 144,672,192 (GRCm39) E250V probably damaging Het
Cplx4 T C 18: 66,100,559 (GRCm39) D79G probably benign Het
Dcaf11 A G 14: 55,802,949 (GRCm39) D246G probably damaging Het
Dnah2 A T 11: 69,420,207 (GRCm39) probably null Het
Dock3 A T 9: 106,807,330 (GRCm39) probably benign Het
Fam170a T C 18: 50,413,588 (GRCm39) probably benign Het
Fgfr2 T A 7: 129,782,149 (GRCm39) M423L probably benign Het
Gabra2 A G 5: 71,130,836 (GRCm39) F331L probably damaging Het
Galnt18 C T 7: 111,119,321 (GRCm39) R400Q probably damaging Het
H2-M11 A T 17: 36,859,805 (GRCm39) Q266L probably damaging Het
Igf2bp1 A T 11: 95,857,499 (GRCm39) V502D probably damaging Het
Ik A G 18: 36,881,699 (GRCm39) N111S probably damaging Het
Intu T A 3: 40,627,027 (GRCm39) Y269* probably null Het
Krt82 T C 15: 101,450,307 (GRCm39) Y463C probably benign Het
Lrig1 A G 6: 94,588,628 (GRCm39) M507T probably benign Het
Lrrc37 A G 11: 103,504,525 (GRCm39) V2481A possibly damaging Het
Mag T G 7: 30,598,953 (GRCm39) probably null Het
Map7 T A 10: 20,121,068 (GRCm39) Y121* probably null Het
Marchf6 A G 15: 31,486,508 (GRCm39) I349T probably benign Het
Mas1 A G 17: 13,060,451 (GRCm39) V324A possibly damaging Het
Nckap1l T C 15: 103,372,832 (GRCm39) W259R probably damaging Het
Nhsl1 T A 10: 18,373,827 (GRCm39) Y164* probably null Het
Or52e5 T A 7: 104,719,209 (GRCm39) H178Q probably damaging Het
Or8b38 A T 9: 37,973,009 (GRCm39) Y131F probably damaging Het
Pcdhb2 A G 18: 37,429,059 (GRCm39) D344G probably damaging Het
Pclo T C 5: 14,731,824 (GRCm39) V3442A unknown Het
Polr3c C T 3: 96,621,567 (GRCm39) probably benign Het
Ppp2r2d C T 7: 138,474,651 (GRCm39) R11* probably null Het
Ptgfr T A 3: 151,541,500 (GRCm39) M3L probably benign Het
Rfx6 A G 10: 51,601,903 (GRCm39) S741G probably benign Het
Rif1 T C 2: 51,980,273 (GRCm39) V490A probably damaging Het
Samd7 T A 3: 30,816,302 (GRCm39) H349Q probably damaging Het
Sh3pxd2a T C 19: 47,302,482 (GRCm39) N199S probably damaging Het
Spef2 T A 15: 9,667,305 (GRCm39) K794N possibly damaging Het
Spta1 C T 1: 174,041,484 (GRCm39) A1316V probably damaging Het
Vwa7 A G 17: 35,240,575 (GRCm39) E410G probably benign Het
Washc2 T A 6: 116,215,084 (GRCm39) probably benign Het
Wdr72 A C 9: 74,064,711 (GRCm39) Y581S probably damaging Het
Other mutations in Zdhhc17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01546:Zdhhc17 APN 10 110,782,054 (GRCm39) missense probably damaging 1.00
IGL01812:Zdhhc17 APN 10 110,784,078 (GRCm39) missense possibly damaging 0.93
IGL01948:Zdhhc17 APN 10 110,782,137 (GRCm39) missense possibly damaging 0.56
IGL02002:Zdhhc17 APN 10 110,803,550 (GRCm39) missense probably benign
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 2016-08-02