Incidental Mutation 'R7172:Zdhhc17'
ID 558358
Institutional Source Beutler Lab
Gene Symbol Zdhhc17
Ensembl Gene ENSMUSG00000035798
Gene Name zinc finger, DHHC domain containing 17
Synonyms Hip14, A230053P19Rik, D130071N24Rik
MMRRC Submission 045264-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7172 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 110777641-110846001 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110845809 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 28 (L28P)
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: L28P

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000043279
Gene: ENSMUSG00000035798
AA Change: L28P

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 probably benign
Transcript: ENSMUST00000219307
Predicted Effect probably benign
Transcript: ENSMUST00000220247
AA Change: L16P

PolyPhen 2 Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.6261 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (74/74)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA467197 A T 2: 122,480,238 (GRCm39) Y33F probably damaging Het
Abca4 C T 3: 121,897,189 (GRCm39) Q623* probably null Het
Abcb1a A T 5: 8,752,399 (GRCm39) I457F probably benign Het
Abcb9 G A 5: 124,200,869 (GRCm39) Q716* probably null Het
Abhd15 T C 11: 77,406,122 (GRCm39) V33A probably benign Het
Abl2 A G 1: 156,450,157 (GRCm39) D108G probably damaging Het
Adamts3 G A 5: 90,030,860 (GRCm39) probably benign Het
Atmin G T 8: 117,683,281 (GRCm39) V314L probably damaging Het
Axl G T 7: 25,486,399 (GRCm39) Q102K probably benign Het
Cdhr5 A G 7: 140,851,841 (GRCm39) S488P possibly damaging Het
Cnn1 C A 9: 22,016,790 (GRCm39) A126D probably damaging Het
Col25a1 A T 3: 130,363,981 (GRCm39) K537* probably null Het
Cxcl2 A G 5: 91,051,879 (GRCm39) T26A probably benign Het
Dcc T C 18: 71,511,755 (GRCm39) T887A probably benign Het
Dhx36 T C 3: 62,408,436 (GRCm39) D134G probably benign Het
Dnah17 T A 11: 117,931,957 (GRCm39) K3672* probably null Het
Fadd G T 7: 144,135,908 (GRCm39) H73Q probably benign Het
Fancm A G 12: 65,152,828 (GRCm39) N1095D possibly damaging Het
Fhod3 T C 18: 25,218,603 (GRCm39) S789P probably damaging Het
Glis2 G A 16: 4,431,339 (GRCm39) V289I probably benign Het
Gm17728 A C 17: 9,641,220 (GRCm39) D110A probably damaging Het
Gm9602 T A 14: 15,933,429 (GRCm39) S45T possibly damaging Het
Gpr137 A G 19: 6,917,049 (GRCm39) S161P possibly damaging Het
Gpr89 C T 3: 96,787,385 (GRCm39) probably null Het
Gps2 C T 11: 69,807,262 (GRCm39) T306I probably benign Het
Hmcn1 A G 1: 150,629,450 (GRCm39) Y936H possibly damaging Het
Hoxa5 A G 6: 52,181,276 (GRCm39) Y19H probably damaging Het
Ifit2 G T 19: 34,550,894 (GRCm39) A145S probably benign Het
Impdh2 G T 9: 108,437,809 (GRCm39) C26F probably benign Het
Kcnh6 T C 11: 105,911,100 (GRCm39) Y552H possibly damaging Het
Kcnma1 A T 14: 23,576,691 (GRCm39) M254K probably damaging Het
Klhdc9 A T 1: 171,188,228 (GRCm39) M1K probably null Het
Klk1b11 A T 7: 43,648,671 (GRCm39) D194V possibly damaging Het
Lama1 A G 17: 68,111,540 (GRCm39) I2264V Het
Lmntd2 A G 7: 140,793,554 (GRCm39) S111P unknown Het
Megf8 T C 7: 25,043,092 (GRCm39) L1338P probably damaging Het
Mipol1 G A 12: 57,372,321 (GRCm39) E127K possibly damaging Het
Mmp25 A T 17: 23,863,762 (GRCm39) C23S probably benign Het
Mup8 A T 4: 60,222,425 (GRCm39) C15* probably null Het
Myh2 A T 11: 67,079,527 (GRCm39) T995S probably benign Het
Myo1d C T 11: 80,483,621 (GRCm39) V863I probably benign Het
N4bp1 A G 8: 87,587,052 (GRCm39) probably null Het
Nat10 G T 2: 103,563,314 (GRCm39) P562T probably damaging Het
Nedd9 C G 13: 41,470,280 (GRCm39) R291P probably benign Het
Nlrc3 G T 16: 3,781,617 (GRCm39) H613Q probably benign Het
Ntn1 A T 11: 68,276,493 (GRCm39) C152S probably damaging Het
Or2av9 T A 11: 58,380,571 (GRCm39) I337F unknown Het
Pam A T 1: 97,762,203 (GRCm39) D793E probably benign Het
Patz1 T G 11: 3,258,032 (GRCm39) V631G probably benign Het
Pcdh15 G A 10: 74,338,597 (GRCm39) V1068M probably damaging Het
Pramel17 A G 4: 101,694,193 (GRCm39) V230A probably benign Het
Prmt5 A G 14: 54,752,343 (GRCm39) F151S possibly damaging Het
Pygo2 G A 3: 89,339,943 (GRCm39) V114I probably benign Het
Rabgap1l A T 1: 160,561,156 (GRCm39) S220R probably benign Het
Rdh7 T G 10: 127,724,218 (GRCm39) S89R possibly damaging Het
Rgsl1 A C 1: 153,701,966 (GRCm39) W163G possibly damaging Het
Ryr3 T A 2: 112,492,002 (GRCm39) N3783I probably damaging Het
Shld2 G A 14: 33,959,525 (GRCm39) T819I probably damaging Het
Slit1 A G 19: 41,623,105 (GRCm39) L644P probably damaging Het
Steap2 A G 5: 5,732,896 (GRCm39) S43P possibly damaging Het
Susd1 A T 4: 59,315,420 (GRCm39) probably null Het
Tbc1d9 A G 8: 83,981,390 (GRCm39) M686V probably damaging Het
Tdrp G A 8: 14,024,579 (GRCm39) R22* probably null Het
Tmem245 A G 4: 56,903,946 (GRCm39) V598A possibly damaging Het
Tnxb A G 17: 34,914,994 (GRCm39) E1994G probably damaging Het
Trcg1 T A 9: 57,155,618 (GRCm39) V757E probably benign Het
Trim10 A G 17: 37,180,955 (GRCm39) E62G possibly damaging Het
Ushbp1 G T 8: 71,841,410 (GRCm39) A473E possibly damaging Het
Vmn1r50 A C 6: 90,084,386 (GRCm39) K44Q possibly damaging Het
Wdr75 A G 1: 45,838,294 (GRCm39) N68D probably damaging Het
Wdr83 A G 8: 85,806,453 (GRCm39) V115A probably damaging Het
Zfp738 C T 13: 67,818,527 (GRCm39) C488Y probably damaging Het
Zfp987 T G 4: 146,058,572 (GRCm39) L50W probably damaging Het
Zfyve28 G T 5: 34,391,753 (GRCm39) R133S probably benign Het
Zscan20 G T 4: 128,479,469 (GRCm39) C1007* probably null 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
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'- ACCTCTGTCCTCCAGGCAC -3'
(R):5'- GCAGAGAGCACACTCCAGC -3'

Sequencing Primer
(F):5'- GTTATCCGCTCGCTCGC -3'
(R):5'- CACACTCCAGCCCCGGG -3'
Posted On 2019-06-26