Incidental Mutation 'IGL01948:Zdhhc17'
ID 180988
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 # IGL01948
Quality Score
Status
Chromosome 10
Chromosomal Location 110777641-110846001 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 110782137 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 519 (T519K)
Ref Sequence ENSEMBL: ENSMUSP00000043279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041723]
AlphaFold Q80TN5
Predicted Effect possibly damaging
Transcript: ENSMUST00000041723
AA Change: T519K

PolyPhen 2 Score 0.560 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000043279
Gene: ENSMUSG00000035798
AA Change: T519K

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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik T C 5: 3,627,326 (GRCm39) F101L probably damaging Het
Cacna1d T C 14: 29,846,751 (GRCm39) T552A probably damaging Het
Ccdc81 T C 7: 89,525,063 (GRCm39) D506G possibly damaging Het
Fam186b T C 15: 99,178,327 (GRCm39) H333R probably benign Het
Fam222b T C 11: 78,045,165 (GRCm39) V242A probably damaging Het
Gabra2 A G 5: 71,119,228 (GRCm39) F425L probably damaging Het
Gm10717 A T 9: 3,025,819 (GRCm39) T135S probably damaging Het
Gm8104 A T 14: 42,966,607 (GRCm39) M120L probably benign Het
Gsdmc T C 15: 63,650,430 (GRCm39) D308G probably damaging Het
Hook3 T A 8: 26,549,340 (GRCm39) E168V possibly damaging Het
Ighv5-17 T A 12: 113,823,046 (GRCm39) E25V probably damaging Het
Imp4 T G 1: 34,483,356 (GRCm39) probably benign Het
Ms4a5 A C 19: 11,256,717 (GRCm39) M60R probably damaging Het
Pisd C A 5: 32,896,476 (GRCm39) probably null Het
Prokr2 G T 2: 132,215,603 (GRCm39) A286E probably damaging Het
Ranbp9 T A 13: 43,576,029 (GRCm39) Q226L probably damaging Het
Scara3 A G 14: 66,168,261 (GRCm39) V452A probably damaging Het
Tmem38b C T 4: 53,850,530 (GRCm39) P171S 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
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 2014-05-07