Incidental Mutation 'R4900:Zdhhc17'
ID 376104
Institutional Source Beutler Lab
Gene Symbol Zdhhc17
Ensembl Gene ENSMUSG00000035798
Gene Name zinc finger, DHHC domain containing 17
Synonyms Hip14, A230053P19Rik, D130071N24Rik
MMRRC Submission 042504-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4900 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 110777641-110846001 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110821819 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 60 (D60G)
Ref Sequence ENSEMBL: ENSMUSP00000043279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041723] [ENSMUST00000219307]
AlphaFold Q80TN5
Predicted Effect possibly damaging
Transcript: ENSMUST00000041723
AA Change: D60G

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000043279
Gene: ENSMUSG00000035798
AA Change: D60G

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 noncoding transcript
Transcript: ENSMUST00000217793
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218981
Predicted Effect probably benign
Transcript: ENSMUST00000219307
Predicted Effect unknown
Transcript: ENSMUST00000220247
AA Change: D48G
Meta Mutation Damage Score 0.7813 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency 100% (84/84)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik T C 6: 91,895,091 (GRCm39) V262A probably benign Het
Abtb2 A G 2: 103,397,349 (GRCm39) E93G possibly damaging Het
Adam5 A C 8: 25,232,172 (GRCm39) probably null Het
Adam5 G A 8: 25,271,619 (GRCm39) T596I probably damaging Het
Adgrb2 T A 4: 129,907,668 (GRCm39) Y1001N probably damaging Het
Aox1 T G 1: 58,344,544 (GRCm39) S546A probably benign Het
Asic2 T C 11: 81,464,280 (GRCm39) probably benign Het
Bcl11b T A 12: 107,955,957 (GRCm39) N64I probably damaging Het
Cacna1g A G 11: 94,350,177 (GRCm39) F556S possibly damaging Het
Cbl A G 9: 44,064,166 (GRCm39) V790A probably benign Het
Cd300c2 A T 11: 114,891,807 (GRCm39) C22* probably null Het
Cdh11 C T 8: 103,374,090 (GRCm39) probably null Het
Ces2g C T 8: 105,693,989 (GRCm39) Q442* probably null Het
Cps1 A T 1: 67,200,063 (GRCm39) T404S probably damaging Het
Csf2rb2 A T 15: 78,170,174 (GRCm39) probably null Het
Csmd2 A G 4: 128,346,318 (GRCm39) Y1526C probably benign Het
Cyp2a12 C T 7: 26,730,640 (GRCm39) Q202* probably null Het
Cyp2c39 G A 19: 39,502,020 (GRCm39) M136I probably benign Het
Cyp2j13 G A 4: 95,947,280 (GRCm39) T257I probably damaging Het
Dnah8 T A 17: 30,965,949 (GRCm39) L2427Q probably damaging Het
Dop1b G T 16: 93,560,318 (GRCm39) probably null Het
Entrep1 A G 19: 23,952,790 (GRCm39) S507P possibly damaging Het
Epcam T C 17: 87,951,049 (GRCm39) V212A possibly damaging Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Flvcr2 T A 12: 85,829,756 (GRCm39) V255D probably damaging Het
Galc G T 12: 98,197,731 (GRCm39) T326K probably damaging Het
Gas2l3 CACTCGTCATACT CACT 10: 89,266,820 (GRCm39) probably benign Het
Gen1 A T 12: 11,291,561 (GRCm39) Y808N probably benign Het
Glis1 C T 4: 107,476,761 (GRCm39) A306V probably damaging Het
Gm10638 A G 8: 87,473,028 (GRCm39) probably benign Het
Gm12789 G A 4: 101,846,182 (GRCm39) probably benign Het
Gm27048 C T 8: 81,661,228 (GRCm39) noncoding transcript Het
Gm4204 T C 1: 135,160,556 (GRCm39) noncoding transcript Het
Gm904 A T 13: 50,799,325 (GRCm39) I95F possibly damaging Het
Gvin3 T G 7: 106,197,793 (GRCm39) noncoding transcript Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Ints11 G A 4: 155,972,887 (GRCm39) D526N probably benign Het
Itfg2 A G 6: 128,393,279 (GRCm39) probably benign Het
Jund T C 8: 71,152,254 (GRCm39) V183A probably damaging Het
Kcnj8 A G 6: 142,512,221 (GRCm39) S129P probably damaging Het
Kcnq3 A G 15: 65,867,259 (GRCm39) S795P probably damaging Het
Lhx8 G T 3: 154,035,925 (GRCm39) A22E probably benign Het
Lrp8 A G 4: 107,664,006 (GRCm39) probably benign Het
Lvrn G T 18: 47,026,768 (GRCm39) A789S probably damaging Het
Lvrn T C 18: 47,014,479 (GRCm39) S526P probably damaging Het
Mga T A 2: 119,794,535 (GRCm39) C2622S possibly damaging Het
Mroh8 T C 2: 157,070,647 (GRCm39) E568G probably benign Het
Ms4a4b C A 19: 11,440,503 (GRCm39) probably benign Het
Muc2 T C 7: 141,303,280 (GRCm39) F99S probably benign Het
Myo5c T A 9: 75,180,825 (GRCm39) I738N probably damaging Het
Naip6 A C 13: 100,433,477 (GRCm39) V1120G probably damaging Het
Ncl T C 1: 86,283,901 (GRCm39) T307A probably benign Het
Npr1 A T 3: 90,363,272 (GRCm39) D869E possibly damaging Het
Nup93 A G 8: 95,013,231 (GRCm39) T36A probably benign Het
Olfml2b C A 1: 170,489,947 (GRCm39) T189N probably damaging Het
Or4c12b A G 2: 89,647,312 (GRCm39) N208S possibly damaging Het
Or8b9 T C 9: 37,766,608 (GRCm39) F165L probably benign Het
P4htm A C 9: 108,456,427 (GRCm39) W458G probably damaging Het
Pdzrn4 G T 15: 92,668,638 (GRCm39) R930L probably damaging Het
Pgam5 G A 5: 110,408,301 (GRCm39) A240V probably damaging Het
Prex2 T C 1: 11,220,129 (GRCm39) probably benign Het
Ptpru T G 4: 131,515,693 (GRCm39) E897A probably damaging Het
Rapgef2 A T 3: 78,981,670 (GRCm39) N1256K probably benign Het
Rhbdl3 A G 11: 80,210,439 (GRCm39) E64G probably benign Het
Sel1l3 A T 5: 53,289,184 (GRCm39) L879Q probably damaging Het
Siah1a G T 8: 87,451,703 (GRCm39) D260E probably benign Het
Skint6 T C 4: 112,924,667 (GRCm39) I522V probably benign Het
Slco4c1 G A 1: 96,768,953 (GRCm39) P303L probably damaging Het
Smok3c T C 5: 138,062,813 (GRCm39) I100T probably damaging Het
Snx24 C A 18: 53,518,295 (GRCm39) Y141* probably null Het
Tigit A G 16: 43,469,594 (GRCm39) S166P probably damaging Het
Tmem183a C T 1: 134,275,904 (GRCm39) R324Q probably benign Het
Tmie T C 9: 110,696,001 (GRCm39) D130G possibly damaging Het
Uggt1 G A 1: 36,241,936 (GRCm39) R333* probably null Het
Vmn2r111 T C 17: 22,767,637 (GRCm39) N620S possibly damaging Het
Vmn2r12 T A 5: 109,240,852 (GRCm39) N87I probably damaging Het
Vmn2r92 A G 17: 18,404,605 (GRCm39) D583G probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- AATTTCCACAAAACGGCAAGT -3'
(R):5'- GGGTAGATTTCTTTGACCATGCTTTT -3'

Sequencing Primer
(F):5'- GGCAAGTACCAAAAGCTAACAG -3'
(R):5'- ACCATGCTTTTTCTCTAGAGTATGG -3'
Posted On 2016-03-17