Incidental Mutation 'IGL01575:Zdhhc18'
ID91226
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zdhhc18
Ensembl Gene ENSMUSG00000037553
Gene Namezinc finger, DHHC domain containing 18
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.124) question?
Stock #IGL01575
Quality Score
Status
Chromosome4
Chromosomal Location133605299-133650154 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 133613899 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 221 (V221A)
Ref Sequence ENSEMBL: ENSMUSP00000081260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084238]
Predicted Effect probably damaging
Transcript: ENSMUST00000084238
AA Change: V221A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000081260
Gene: ENSMUSG00000037553
AA Change: V221A

DomainStartEndE-ValueType
low complexity region 10 60 N/A INTRINSIC
transmembrane domain 78 100 N/A INTRINSIC
transmembrane domain 110 132 N/A INTRINSIC
Pfam:zf-DHHC 179 308 1.4e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135999
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138639
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142382
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anapc2 C T 2: 25,285,176 probably benign Het
Atp10b G A 11: 43,172,721 R161H probably benign Het
Boll A G 1: 55,323,648 probably null Het
Cngb1 G A 8: 95,264,520 P226S possibly damaging Het
Commd3 G A 2: 18,674,717 probably null Het
Ddx46 C T 13: 55,654,183 probably benign Het
Dmrtb1 A G 4: 107,684,068 I32T probably benign Het
Dnah7a T C 1: 53,427,820 probably benign Het
Dppa5a A G 9: 78,367,780 I80T possibly damaging Het
Galntl6 T C 8: 58,427,676 probably benign Het
Gm9803 T C 10: 43,524,415 V55A probably benign Het
Hmgcr A G 13: 96,656,595 Y510H possibly damaging Het
Idua G T 5: 108,682,107 R505L possibly damaging Het
Ifna15 A G 4: 88,557,807 F147L probably damaging Het
Itga4 T C 2: 79,288,255 S433P probably damaging Het
Kcnc1 T C 7: 46,428,099 Y442H possibly damaging Het
Kmt2d A G 15: 98,846,855 probably benign Het
Mpp7 A G 18: 7,403,365 probably benign Het
Olfr292 T C 7: 86,695,293 V279A probably benign Het
Olfr488 A C 7: 108,255,535 V201G possibly damaging Het
Olfr790 A G 10: 129,501,567 I228V probably benign Het
Phf14 T C 6: 11,990,051 L693S probably damaging Het
Pkd1 A G 17: 24,573,128 N1263S probably damaging Het
Rhbdl1 G T 17: 25,836,138 A32E possibly damaging Het
Samd9l A G 6: 3,376,734 S176P possibly damaging Het
Scn1a G T 2: 66,273,236 F1893L probably damaging Het
Serpina3f C A 12: 104,218,440 P281Q probably damaging Het
Slc35a1 G T 4: 34,668,932 Q294K probably benign Het
Sspo G A 6: 48,459,042 S1154N probably benign Het
Tdrd6 A G 17: 43,627,980 S726P probably benign Het
Tiam2 A T 17: 3,454,316 E24V probably damaging Het
Tmf1 T C 6: 97,175,936 E392G probably damaging Het
Tns2 T C 15: 102,113,191 V1089A probably damaging Het
Tspyl1 C A 10: 34,283,090 N270K probably damaging Het
Usp32 A T 11: 85,022,802 V901D probably damaging Het
Vldlr A G 19: 27,246,631 I764V probably benign Het
Wnk2 A G 13: 49,146,676 V186A probably damaging Het
Other mutations in Zdhhc18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01100:Zdhhc18 APN 4 133612958 missense probably damaging 1.00
IGL02122:Zdhhc18 APN 4 133613635 splice site probably benign
R0316:Zdhhc18 UTSW 4 133613655 nonsense probably null
R1398:Zdhhc18 UTSW 4 133627297 missense probably benign 0.00
R1764:Zdhhc18 UTSW 4 133608676 missense probably benign 0.00
R1912:Zdhhc18 UTSW 4 133613860 missense probably damaging 1.00
R2253:Zdhhc18 UTSW 4 133633077 critical splice donor site probably null
R2921:Zdhhc18 UTSW 4 133633144 missense probably benign 0.00
R2923:Zdhhc18 UTSW 4 133633144 missense probably benign 0.00
R4735:Zdhhc18 UTSW 4 133613867 missense probably damaging 1.00
R4985:Zdhhc18 UTSW 4 133612917 splice site probably null
R6551:Zdhhc18 UTSW 4 133613649 missense probably benign 0.03
R7358:Zdhhc18 UTSW 4 133633171 nonsense probably null
R7577:Zdhhc18 UTSW 4 133615209 nonsense probably null
X0024:Zdhhc18 UTSW 4 133615307 nonsense probably null
Posted On2013-12-09