Incidental Mutation 'IGL01100:Zdhhc18'
ID50895
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: 0.180) question?
Stock #IGL01100
Quality Score
Status
Chromosome4
Chromosomal Location133605299-133650154 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 133612958 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 293 (Y293N)
Ref Sequence ENSEMBL: ENSMUSP00000081260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084238]
Predicted Effect probably damaging
Transcript: ENSMUST00000084238
AA Change: Y293N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081260
Gene: ENSMUSG00000037553
AA Change: Y293N

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T G 11: 9,274,673 probably null Het
Abca8a C T 11: 110,058,423 probably null Het
Acad11 A G 9: 104,076,408 T32A probably damaging Het
Ak7 T A 12: 105,713,574 N122K probably benign Het
Arrb1 A T 7: 99,587,213 probably null Het
Csde1 C A 3: 103,040,525 R132S possibly damaging Het
Emilin1 A G 5: 30,918,404 H663R probably benign Het
Etaa1 A G 11: 17,952,576 probably null Het
Fat3 A T 9: 16,375,228 F1000I probably damaging Het
Foxj2 T C 6: 122,828,391 L74P probably damaging Het
Gas6 C T 8: 13,475,118 V289M probably benign Het
Gm10801 A T 2: 98,663,983 Y135F probably benign Het
Ihh C T 1: 74,946,442 A295T probably damaging Het
Ip6k2 G T 9: 108,805,744 S305I probably damaging Het
Kcnk2 A G 1: 189,339,936 V65A probably damaging Het
Kif26b G A 1: 178,917,244 C1635Y probably benign Het
Klhdc4 G A 8: 121,821,843 Q44* probably null Het
Madd C A 2: 91,158,040 R1216L probably damaging Het
Myo15 T A 11: 60,511,158 C3076S probably damaging Het
Olfr365 A T 2: 37,201,640 H133L possibly damaging Het
Olfr670 T A 7: 104,959,995 I246F probably benign Het
Polq C A 16: 37,061,112 P934T probably benign Het
Prkaa1 A T 15: 5,174,318 K227M probably damaging Het
Psap G A 10: 60,299,929 G388S probably benign Het
Repin1 A G 6: 48,596,905 E200G probably damaging Het
Samd9l C A 6: 3,375,863 S466I possibly damaging Het
Slc5a3 A G 16: 92,079,222 probably benign Het
Smg9 G A 7: 24,416,951 V314M probably damaging Het
Tktl1 G A X: 74,200,626 R352H probably benign Het
Ube2z A G 11: 96,063,023 V123A probably damaging Het
Vmn1r176 A T 7: 23,835,624 F35I probably benign Het
Other mutations in Zdhhc18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01575:Zdhhc18 APN 4 133613899 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 On2013-06-21