Incidental Mutation 'R9186:Zdhhc17'
ID 697390
Institutional Source Beutler Lab
Gene Symbol Zdhhc17
Ensembl Gene ENSMUSG00000035798
Gene Name zinc finger, DHHC domain containing 17
Synonyms Hip14, A230053P19Rik, D130071N24Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9186 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 110777641-110846001 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110780281 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 624 (I624M)
Ref Sequence ENSEMBL: ENSMUSP00000043279 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020403] [ENSMUST00000041723]
AlphaFold Q80TN5
Predicted Effect probably benign
Transcript: ENSMUST00000020403
SMART Domains Protein: ENSMUSP00000020403
Gene: ENSMUSG00000020186

DomainStartEndE-ValueType
LIM 9 61 3.56e-11 SMART
LIM 118 170 7.39e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000041723
AA Change: I624M

PolyPhen 2 Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000043279
Gene: ENSMUSG00000035798
AA Change: I624M

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220301
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik C A 9: 57,164,472 (GRCm39) R634L probably damaging Het
Ankhd1 T C 18: 36,767,383 (GRCm39) I210T possibly damaging Het
Ankle2 G A 5: 110,400,610 (GRCm39) V649M possibly damaging Het
Arid3b A T 9: 57,702,217 (GRCm39) probably null Het
Arl10 A G 13: 54,726,620 (GRCm39) N133D probably damaging Het
Bag6 C T 17: 35,363,667 (GRCm39) R784W probably damaging Het
Ccnl1 T C 3: 65,865,426 (GRCm39) T42A unknown Het
Cd164 C A 10: 41,404,695 (GRCm39) P151Q probably damaging Het
Cdh23 G A 10: 60,143,306 (GRCm39) A3005V possibly damaging Het
Ceacam2 T A 7: 25,227,213 (GRCm39) N218I probably damaging Het
Cfap97 C T 8: 46,644,665 (GRCm39) R466C possibly damaging Het
Colgalt2 C A 1: 152,384,403 (GRCm39) T581K probably damaging Het
Dnah11 T A 12: 118,154,632 (GRCm39) D216V probably benign Het
Dusp13b A T 14: 21,798,563 (GRCm39) S34T probably damaging Het
Esf1 T A 2: 139,990,792 (GRCm39) K564I possibly damaging Het
F5 A G 1: 164,021,470 (GRCm39) N1315S probably benign Het
Fubp1 A T 3: 151,926,153 (GRCm39) M292L probably damaging Het
Gabrb2 A T 11: 42,378,200 (GRCm39) M139L possibly damaging Het
Gk5 T A 9: 96,015,469 (GRCm39) V95D probably benign Het
Glcci1 C A 6: 8,537,826 (GRCm39) P148Q possibly damaging Het
Gm19410 A T 8: 36,282,629 (GRCm39) S1952C possibly damaging Het
Gstm4 T C 3: 107,952,049 (GRCm39) probably benign Het
Heatr1 T A 13: 12,436,227 (GRCm39) L1211Q probably damaging Het
Helz2 A G 2: 180,876,457 (GRCm39) S1346P possibly damaging Het
Hexb A C 13: 97,325,836 (GRCm39) V158G probably damaging Het
Hipk3 T C 2: 104,301,439 (GRCm39) E251G probably damaging Het
Hps5 T C 7: 46,438,370 (GRCm39) Y89C probably damaging Het
Iqub A T 6: 24,450,766 (GRCm39) V611D possibly damaging Het
Itgbl1 G A 14: 124,094,970 (GRCm39) D332N probably benign Het
Krtap26-1 C A 16: 88,444,609 (GRCm39) R4L unknown Het
Lgi3 A G 14: 70,772,193 (GRCm39) Y246C probably damaging Het
Mug2 T A 6: 122,052,248 (GRCm39) I1002N probably damaging Het
Myo18a C T 11: 77,749,847 (GRCm39) T66M Het
Naip6 T C 13: 100,436,390 (GRCm39) D711G possibly damaging Het
Or4f59 C A 2: 111,873,095 (GRCm39) C94F probably damaging Het
Orc5 T A 5: 22,752,944 (GRCm39) Q48L probably benign Het
Oxct2a C A 4: 123,216,461 (GRCm39) A307S probably damaging Het
Pgls T C 8: 72,048,833 (GRCm39) *258Q probably null Het
Plekha6 C T 1: 133,220,171 (GRCm39) R955W probably damaging Het
Polr1c G T 17: 46,556,633 (GRCm39) N97K probably damaging Het
Prr27 C A 5: 87,990,994 (GRCm39) P202Q probably benign Het
Prtg T C 9: 72,764,159 (GRCm39) V544A probably benign Het
Rbl2 G A 8: 91,828,006 (GRCm39) G574S probably damaging Het
Scamp1 T A 13: 94,344,682 (GRCm39) T272S possibly damaging Het
Sun2 T A 15: 79,611,737 (GRCm39) D562V probably damaging Het
Szt2 A G 4: 118,242,288 (GRCm39) F1565S probably damaging Het
Tatdn2 C T 6: 113,687,125 (GRCm39) R779C probably benign Het
Tbc1d30 T C 10: 121,111,639 (GRCm39) I430V probably benign Het
Tmem86b T C 7: 4,632,725 (GRCm39) D43G probably damaging Het
Tnrc18 T C 5: 142,773,488 (GRCm39) N447S Het
Trmt2a T C 16: 18,069,033 (GRCm39) S292P probably benign Het
Trpc2 T C 7: 101,737,492 (GRCm39) V428A probably damaging Het
Tsc2 T C 17: 24,823,862 (GRCm39) E981G probably damaging Het
Ucp1 G T 8: 84,017,272 (GRCm39) G21* probably null Het
Utrn T C 10: 12,490,318 (GRCm39) T21A probably benign Het
Vapa A T 17: 65,900,507 (GRCm39) N88K probably damaging Het
Wasl T C 6: 24,664,615 (GRCm39) R10G probably damaging Het
Zan C A 5: 137,391,810 (GRCm39) V4662F unknown Het
Zap70 G A 1: 36,818,832 (GRCm39) M382I possibly 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
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
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'- CTGTCGAGTTCACGGTTAGC -3'
(R):5'- ACTTCTTTCTTGCAAGCATCCTGAG -3'

Sequencing Primer
(F):5'- GGTTAGCCCTACATATAGCATGC -3'
(R):5'- GCAAGCATCCTGAGTTTTTAAGC -3'
Posted On 2022-02-07