Incidental Mutation 'IGL01707:Zdhhc15'
ID 104649
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zdhhc15
Ensembl Gene ENSMUSG00000033906
Gene Name zinc finger, DHHC domain containing 15
Synonyms 6030457O13Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL01707
Quality Score
Status
Chromosome X
Chromosomal Location 103580575-103714670 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 103609422 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 208 (R208C)
Ref Sequence ENSEMBL: ENSMUSP00000047615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042070]
AlphaFold Q8BGJ0
Predicted Effect probably damaging
Transcript: ENSMUST00000042070
AA Change: R208C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000047615
Gene: ENSMUSG00000033906
AA Change: R208C

DomainStartEndE-ValueType
transmembrane domain 19 41 N/A INTRINSIC
transmembrane domain 56 73 N/A INTRINSIC
Pfam:zf-DHHC 125 250 2.4e-36 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the DHHC palmitoyltransferase family. Mutations in this gene are associated with mental retardatio X-linked type 91 (MRX91). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Male chimeras hemizygous for a gene trapped allele exhibit a severe developmental delay and neural tube defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 C A 19: 57,027,879 (GRCm39) R404L probably damaging Het
Acot6 C A 12: 84,147,763 (GRCm39) S6R probably benign Het
Adamtsl4 T A 3: 95,591,301 (GRCm39) Q222L probably benign Het
Adgre5 T A 8: 84,450,976 (GRCm39) T725S probably damaging Het
Agbl3 A T 6: 34,816,389 (GRCm39) K766N possibly damaging Het
Ankrd12 A G 17: 66,291,273 (GRCm39) S1387P probably damaging Het
Camk2a G A 18: 61,093,122 (GRCm39) probably null Het
Cd209d T C 8: 3,928,296 (GRCm39) I30V probably benign Het
Ces1d A T 8: 93,916,178 (GRCm39) S150T possibly damaging Het
Cox4i2 T C 2: 152,598,956 (GRCm39) Y38H probably damaging Het
Csmd2 T C 4: 128,276,798 (GRCm39) Y867H possibly damaging Het
Dbh G A 2: 27,055,556 (GRCm39) C10Y probably benign Het
Dnajc13 A G 9: 104,106,178 (GRCm39) V332A probably damaging Het
Gnb3 G T 6: 124,816,652 (GRCm39) A11E possibly damaging Het
Herc2 A G 7: 55,814,935 (GRCm39) R2725G probably damaging Het
Kdm4c C T 4: 74,255,164 (GRCm39) L573F probably damaging Het
Kmt2c T A 5: 25,505,096 (GRCm39) Q3404L probably damaging Het
Mmp9 A G 2: 164,791,909 (GRCm39) H231R probably benign Het
Nphp3 A T 9: 103,895,357 (GRCm39) D371V possibly damaging Het
Nphp4 A G 4: 152,623,440 (GRCm39) I705V probably benign Het
Nutm2 A T 13: 50,623,753 (GRCm39) N150I probably damaging Het
Or51a7 T C 7: 102,615,126 (GRCm39) I273T probably damaging Het
Or51aa5 A T 7: 103,167,141 (GRCm39) I150N probably damaging Het
Phb2 A G 6: 124,690,998 (GRCm39) Q52R probably benign Het
Plekhh1 T A 12: 79,125,738 (GRCm39) V1258E probably benign Het
Pou2f1 A T 1: 165,742,685 (GRCm39) N69K probably damaging Het
Rapsn T A 2: 90,873,585 (GRCm39) M297K probably benign Het
Senp5 A C 16: 31,808,588 (GRCm39) V195G probably damaging Het
Trim25 T C 11: 88,890,517 (GRCm39) V68A probably damaging Het
Ttc41 A T 10: 86,612,631 (GRCm39) R1301S probably damaging Het
Vcan T C 13: 89,837,864 (GRCm39) Y1600C probably damaging Het
Washc5 A G 15: 59,213,864 (GRCm39) I864T possibly damaging Het
Wif1 T A 10: 120,919,890 (GRCm39) probably null Het
Other mutations in Zdhhc15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01118:Zdhhc15 APN X 103,641,712 (GRCm39) missense probably benign 0.00
IGL01295:Zdhhc15 APN X 103,588,519 (GRCm39) splice site probably null
R4404:Zdhhc15 UTSW X 103,604,294 (GRCm39) nonsense probably null
R4407:Zdhhc15 UTSW X 103,604,294 (GRCm39) nonsense probably null
Posted On 2014-01-21