Slc39a4 - SNV Details



 Human Rare Diseases 
Acrodermatitis enteropathica, zinc deficiency type

 Gene Information 
Gene Name Slc39a4
Old Gene Names for Slc39a4 Au041686 , 1600025h15rik
Gene Description solute carrier family 39 (zinc transporter), member 4 [Source:MGI Symbol;Acc:MGI:1919277]
MGI phenotype Mice homozygous for a null allele exhibit embryonic letahlity around E10. Mice heterozygous for a null allele exhibit developmental defects similar to the teratology of zinc deficiency.
Uniprot Name
CCDS Name
Gene GO
cellular response to zinc ion starvation; metal ion transmembrane transporter activity; membrane; integral to membrane; recycling endosome membrane; zinc ion transmembrane transporter activity; apical plasma membrane; zinc ion transport; metal ion transport; endosome; zinc ion transmembrane transport; transmembrane transport; cellular zinc ion homeostasis; plasma membrane; cytoplasmic membrane-bounded vesicle
Homolog in other species SLC39A4
Omim http://omim.org/entry/607059
Immgen Expression
MEDIAN(HIGH IN GN.BM, B.FO.SP, B.MZ.SP, B1A.PC, NK GROUP, ABT GROUP, TACTIVATION GROUP)
Gnf Expression
MEDIAN(HIGH IN M1, BLASTOCYSTS, GI GROUP, EPITH GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000063354
Chromosome 15
Coordinate 76,613,624     (Assembly: GRCm38)    
Ref Base T
Codon Change Acc/Gcc
Var Base C
Zygosity Heterozygous
Read Depth 72
Allele Frequency
T:R0.58
C:V0.40
Amino Acid Position 478
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL02597
Median Base Quality 36
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Polyphen Score 0.02
Polyphen Prediction Benign
Sift Score 0.19
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000073134:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Zinc/iron permease ZIP IPR003689 ENSMUSP00000073134 Pfam 338
651 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved