Incidental Mutation 'IGL01118:Zdhhc15'
ID 53339
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 # IGL01118
Quality Score
Status
Chromosome X
Chromosomal Location 103580575-103714670 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 103641712 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 82 (Q82K)
Ref Sequence ENSEMBL: ENSMUSP00000047615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042070]
AlphaFold Q8BGJ0
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: 124,195,058 (GRCm39) R539Q probably benign Het
Abcb1a G A 5: 8,724,687 (GRCm39) R40H probably damaging Het
Acan T A 7: 78,748,401 (GRCm39) S1057R possibly damaging Het
Ahnak A T 19: 8,989,942 (GRCm39) D3742V probably damaging Het
Amdhd1 A T 10: 93,367,430 (GRCm39) D241E probably benign Het
Cntn5 T C 9: 9,831,565 (GRCm39) Y605C possibly damaging Het
Dnmt3l T C 10: 77,893,120 (GRCm39) F299S probably damaging Het
Eif1ad19 T A 12: 87,740,212 (GRCm39) N116Y probably damaging Het
Ess2 A T 16: 17,720,796 (GRCm39) I350N probably damaging Het
G6pd2 A T 5: 61,967,406 (GRCm39) M394L probably benign Het
Gm9839 A T 1: 32,558,924 (GRCm39) M386K probably benign Het
Gtf2h3 T C 5: 124,733,731 (GRCm39) V268A probably damaging Het
Hgs T C 11: 120,366,040 (GRCm39) V195A probably damaging Het
Igkv3-2 A T 6: 70,675,978 (GRCm39) S96C probably damaging Het
Mgl2 A G 11: 70,025,015 (GRCm39) E12G probably benign Het
Mup11 A T 4: 60,615,779 (GRCm39) F153I probably damaging Het
Nf1 T A 11: 79,437,812 (GRCm39) C2057S probably damaging Het
Nkrf A G X: 36,152,410 (GRCm39) F624S probably damaging Het
Noto T C 6: 85,401,192 (GRCm39) S74P probably benign Het
Or8k40 A G 2: 86,584,314 (GRCm39) I256T probably benign Het
Pax8 T C 2: 24,332,944 (GRCm39) probably benign Het
Psg28 A T 7: 18,162,017 (GRCm39) V162D probably damaging Het
Rai1 T C 11: 60,078,264 (GRCm39) F776S probably damaging Het
Taar8a A T 10: 23,952,759 (GRCm39) H121L probably damaging Het
Tas2r113 A G 6: 132,870,278 (GRCm39) N102S probably benign Het
Trpm1 A G 7: 63,885,572 (GRCm39) T863A probably benign Het
Ttf2 A G 3: 100,874,413 (GRCm39) probably benign Het
Wdr62 T C 7: 29,942,206 (GRCm39) H611R probably damaging Het
Wdr90 A T 17: 26,073,661 (GRCm39) L762Q probably damaging Het
Yeats2 T G 16: 20,005,054 (GRCm39) S364A probably damaging Het
Other mutations in Zdhhc15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Zdhhc15 APN X 103,588,519 (GRCm39) splice site probably null
IGL01707:Zdhhc15 APN X 103,609,422 (GRCm39) missense probably damaging 0.99
R4404:Zdhhc15 UTSW X 103,604,294 (GRCm39) nonsense probably null
R4407:Zdhhc15 UTSW X 103,604,294 (GRCm39) nonsense probably null
Posted On 2013-06-21