Incidental Mutation 'IGL01100:Zdhhc18'
ID 50895
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 # IGL01100
Quality Score
Status
Chromosome 4
Chromosomal Location 133331969-133360801 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 133340269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 293 (Y293N)
Ref Sequence ENSEMBL: ENSMUSP00000081260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084238]
AlphaFold Q5Y5T2
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: 9,224,673 (GRCm39) probably null Het
Abca8a C T 11: 109,949,249 (GRCm39) probably null Het
Acad11 A G 9: 103,953,607 (GRCm39) T32A probably damaging Het
Ak7 T A 12: 105,679,833 (GRCm39) N122K probably benign Het
Arrb1 A T 7: 99,236,420 (GRCm39) probably null Het
Csde1 C A 3: 102,947,841 (GRCm39) R132S possibly damaging Het
Emilin1 A G 5: 31,075,748 (GRCm39) H663R probably benign Het
Etaa1 A G 11: 17,902,576 (GRCm39) probably null Het
Fat3 A T 9: 16,286,524 (GRCm39) F1000I probably damaging Het
Foxj2 T C 6: 122,805,350 (GRCm39) L74P probably damaging Het
Gas6 C T 8: 13,525,118 (GRCm39) V289M probably benign Het
Gm10801 A T 2: 98,494,328 (GRCm39) Y135F probably benign Het
Ihh C T 1: 74,985,601 (GRCm39) A295T probably damaging Het
Ip6k2 G T 9: 108,682,943 (GRCm39) S305I probably damaging Het
Kcnk2 A G 1: 189,072,133 (GRCm39) V65A probably damaging Het
Kif26b G A 1: 178,744,809 (GRCm39) C1635Y probably benign Het
Klhdc4 G A 8: 122,548,582 (GRCm39) Q44* probably null Het
Madd C A 2: 90,988,385 (GRCm39) R1216L probably damaging Het
Myo15a T A 11: 60,401,984 (GRCm39) C3076S probably damaging Het
Or1l4 A T 2: 37,091,652 (GRCm39) H133L possibly damaging Het
Or52e18 T A 7: 104,609,202 (GRCm39) I246F probably benign Het
Polq C A 16: 36,881,474 (GRCm39) P934T probably benign Het
Prkaa1 A T 15: 5,203,799 (GRCm39) K227M probably damaging Het
Psap G A 10: 60,135,708 (GRCm39) G388S probably benign Het
Repin1 A G 6: 48,573,839 (GRCm39) E200G probably damaging Het
Samd9l C A 6: 3,375,863 (GRCm39) S466I possibly damaging Het
Slc5a3 A G 16: 91,876,110 (GRCm39) probably benign Het
Smg9 G A 7: 24,116,376 (GRCm39) V314M probably damaging Het
Tktl1 G A X: 73,244,232 (GRCm39) R352H probably benign Het
Ube2z A G 11: 95,953,849 (GRCm39) V123A probably damaging Het
Vmn1r176 A T 7: 23,535,049 (GRCm39) F35I probably benign Het
Other mutations in Zdhhc18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01575:Zdhhc18 APN 4 133,341,210 (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 2013-06-21