Incidental Mutation 'IGL01118:Zdhhc15'
ID53339
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zdhhc15
Ensembl Gene ENSMUSG00000033906
Gene Namezinc finger, DHHC domain containing 15
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL01118
Quality Score
Status
ChromosomeX
Chromosomal Location104536969-104671064 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 104598106 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Lysine at position 82 (Q82K)
Ref Sequence ENSEMBL: ENSMUSP00000047615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042070]
Predicted Effect probably benign
Transcript: ENSMUST00000042070
AA Change: Q82K

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000047615
Gene: ENSMUSG00000033906
AA Change: Q82K

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik C T 3: 124,401,409 R539Q probably benign Het
Abcb1a G A 5: 8,674,687 R40H probably damaging Het
Acan T A 7: 79,098,653 S1057R possibly damaging Het
Ahnak A T 19: 9,012,578 D3742V probably damaging Het
Amdhd1 A T 10: 93,531,568 D241E probably benign Het
Cntn5 T C 9: 9,831,560 Y605C possibly damaging Het
Dgcr14 A T 16: 17,902,932 I350N probably damaging Het
Dnmt3l T C 10: 78,057,286 F299S probably damaging Het
G6pd2 A T 5: 61,810,063 M394L probably benign Het
Gm21319 T A 12: 87,773,442 N116Y probably damaging Het
Gm9839 A T 1: 32,519,843 M386K probably benign Het
Gtf2h3 T C 5: 124,595,668 V268A probably damaging Het
Hgs T C 11: 120,475,214 V195A probably damaging Het
Igkv3-2 A T 6: 70,698,994 S96C probably damaging Het
Mgl2 A G 11: 70,134,189 E12G probably benign Het
Mup11 A T 4: 60,659,780 F153I probably damaging Het
Nf1 T A 11: 79,546,986 C2057S probably damaging Het
Nkrf A G X: 36,888,757 F624S probably damaging Het
Noto T C 6: 85,424,210 S74P probably benign Het
Olfr1090 A G 2: 86,753,970 I256T probably benign Het
Pax8 T C 2: 24,442,932 probably benign Het
Psg28 A T 7: 18,428,092 V162D probably damaging Het
Rai1 T C 11: 60,187,438 F776S probably damaging Het
Taar8a A T 10: 24,076,861 H121L probably damaging Het
Tas2r113 A G 6: 132,893,315 N102S probably benign Het
Trpm1 A G 7: 64,235,824 T863A probably benign Het
Ttf2 A G 3: 100,967,097 probably benign Het
Wdr62 T C 7: 30,242,781 H611R probably damaging Het
Wdr90 A T 17: 25,854,687 L762Q probably damaging Het
Yeats2 T G 16: 20,186,304 S364A probably damaging Het
Other mutations in Zdhhc15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Zdhhc15 APN X 104544913 splice site probably null
IGL01707:Zdhhc15 APN X 104565816 missense probably damaging 0.99
R4404:Zdhhc15 UTSW X 104560688 nonsense probably null
R4407:Zdhhc15 UTSW X 104560688 nonsense probably null
Posted On2013-06-21