Incidental Mutation 'IGL01575:Zdhhc18'
ID 91226
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zdhhc18
Ensembl Gene ENSMUSG00000037553
Gene Name zinc finger, DHHC domain containing 18
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # IGL01575
Quality Score
Status
Chromosome 4
Chromosomal Location 133331969-133360801 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 133341210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 221 (V221A)
Ref Sequence ENSEMBL: ENSMUSP00000081260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084238]
AlphaFold Q5Y5T2
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: 25,175,188 (GRCm39) probably benign Het
Atp10b G A 11: 43,063,548 (GRCm39) R161H probably benign Het
Boll A G 1: 55,362,807 (GRCm39) probably null Het
Cngb1 G A 8: 95,991,148 (GRCm39) P226S possibly damaging Het
Commd3 G A 2: 18,679,528 (GRCm39) probably null Het
Ddx46 C T 13: 55,801,996 (GRCm39) probably benign Het
Dmrtb1 A G 4: 107,541,265 (GRCm39) I32T probably benign Het
Dnah7a T C 1: 53,466,979 (GRCm39) probably benign Het
Dppa5a A G 9: 78,275,062 (GRCm39) I80T possibly damaging Het
Galntl6 T C 8: 58,880,710 (GRCm39) probably benign Het
Hmgcr A G 13: 96,793,103 (GRCm39) Y510H possibly damaging Het
Idua G T 5: 108,829,973 (GRCm39) R505L possibly damaging Het
Ifna15 A G 4: 88,476,044 (GRCm39) F147L probably damaging Het
Itga4 T C 2: 79,118,599 (GRCm39) S433P probably damaging Het
Kcnc1 T C 7: 46,077,523 (GRCm39) Y442H possibly damaging Het
Kmt2d A G 15: 98,744,736 (GRCm39) probably benign Het
Mpp7 A G 18: 7,403,365 (GRCm39) probably benign Het
Or14c39 T C 7: 86,344,501 (GRCm39) V279A probably benign Het
Or5p64 A C 7: 107,854,742 (GRCm39) V201G possibly damaging Het
Or6c75 A G 10: 129,337,436 (GRCm39) I228V probably benign Het
Pam16l T C 10: 43,400,411 (GRCm39) V55A probably benign Het
Phf14 T C 6: 11,990,050 (GRCm39) L693S probably damaging Het
Pkd1 A G 17: 24,792,102 (GRCm39) N1263S probably damaging Het
Rhbdl1 G T 17: 26,055,112 (GRCm39) A32E possibly damaging Het
Samd9l A G 6: 3,376,734 (GRCm39) S176P possibly damaging Het
Scn1a G T 2: 66,103,580 (GRCm39) F1893L probably damaging Het
Serpina3f C A 12: 104,184,699 (GRCm39) P281Q probably damaging Het
Slc35a1 G T 4: 34,668,932 (GRCm39) Q294K probably benign Het
Sspo G A 6: 48,435,976 (GRCm39) S1154N probably benign Het
Tdrd6 A G 17: 43,938,871 (GRCm39) S726P probably benign Het
Tiam2 A T 17: 3,504,591 (GRCm39) E24V probably damaging Het
Tmf1 T C 6: 97,152,897 (GRCm39) E392G probably damaging Het
Tns2 T C 15: 102,021,626 (GRCm39) V1089A probably damaging Het
Tspyl1 C A 10: 34,159,086 (GRCm39) N270K probably damaging Het
Usp32 A T 11: 84,913,628 (GRCm39) V901D probably damaging Het
Vldlr A G 19: 27,224,031 (GRCm39) I764V probably benign Het
Wnk2 A G 13: 49,300,152 (GRCm39) V186A probably damaging Het
Other mutations in Zdhhc18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01100:Zdhhc18 APN 4 133,340,269 (GRCm39) missense probably damaging 1.00
IGL02122:Zdhhc18 APN 4 133,340,946 (GRCm39) splice site probably benign
R0316:Zdhhc18 UTSW 4 133,340,966 (GRCm39) nonsense probably null
R1398:Zdhhc18 UTSW 4 133,354,608 (GRCm39) missense probably benign 0.00
R1764:Zdhhc18 UTSW 4 133,335,987 (GRCm39) missense probably benign 0.00
R1912:Zdhhc18 UTSW 4 133,341,171 (GRCm39) missense probably damaging 1.00
R2253:Zdhhc18 UTSW 4 133,360,388 (GRCm39) critical splice donor site probably null
R2921:Zdhhc18 UTSW 4 133,360,455 (GRCm39) missense probably benign 0.00
R2923:Zdhhc18 UTSW 4 133,360,455 (GRCm39) missense probably benign 0.00
R4735:Zdhhc18 UTSW 4 133,341,178 (GRCm39) missense probably damaging 1.00
R4985:Zdhhc18 UTSW 4 133,340,228 (GRCm39) splice site probably null
R6551:Zdhhc18 UTSW 4 133,340,960 (GRCm39) missense probably benign 0.03
R7358:Zdhhc18 UTSW 4 133,360,482 (GRCm39) nonsense probably null
R7577:Zdhhc18 UTSW 4 133,342,520 (GRCm39) nonsense probably null
R8194:Zdhhc18 UTSW 4 133,341,165 (GRCm39) missense probably damaging 1.00
R9532:Zdhhc18 UTSW 4 133,342,541 (GRCm39) missense possibly damaging 0.92
X0024:Zdhhc18 UTSW 4 133,342,618 (GRCm39) nonsense probably null
Posted On 2013-12-09