Incidental Mutation 'IGL00661:Slc39a8'
ID 14095
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc39a8
Ensembl Gene ENSMUSG00000053897
Gene Name solute carrier family 39 (metal ion transporter), member 8
Synonyms ZIP8, BIGM103, 4933419D20Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00661
Quality Score
Status
Chromosome 3
Chromosomal Location 135531040-135594333 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 135563873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 239 (K239N)
Ref Sequence ENSEMBL: ENSMUSP00000136634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029810] [ENSMUST00000081978] [ENSMUST00000167390] [ENSMUST00000180196]
AlphaFold Q91W10
Predicted Effect probably benign
Transcript: ENSMUST00000029810
AA Change: K239N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029810
Gene: ENSMUSG00000053897
AA Change: K239N

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Zip 126 453 6.2e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000081978
AA Change: K239N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000080640
Gene: ENSMUSG00000053897
AA Change: K239N

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Zip 126 453 4.7e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139953
Predicted Effect probably benign
Transcript: ENSMUST00000167390
AA Change: K239N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000128245
Gene: ENSMUSG00000053897
AA Change: K239N

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Zip 126 453 4.7e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180196
AA Change: K239N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136634
Gene: ENSMUSG00000053897
AA Change: K239N

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Zip 126 453 4.7e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197889
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane and mitochondria, and functions in the cellular import of zinc at the onset of inflammation. It is also thought to be the primary transporter of the toxic cation cadmium, which is found in cigarette smoke. Multiple transcript variants encoding different isoforms have been found for this gene. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 A G 4: 144,430,263 (GRCm39) V242A possibly damaging Het
Antxr2 T C 5: 98,152,155 (GRCm39) D152G probably benign Het
Blmh A T 11: 76,856,758 (GRCm39) K118* probably null Het
Bnip3 G A 7: 138,499,801 (GRCm39) P62L probably damaging Het
Catsperb A T 12: 101,554,357 (GRCm39) T684S probably damaging Het
Chd3 C A 11: 69,248,209 (GRCm39) K894N possibly damaging Het
Chkb T A 15: 89,311,794 (GRCm39) R133S probably benign Het
Dennd5a T C 7: 109,507,579 (GRCm39) N803S probably benign Het
Dync2li1 A T 17: 84,956,668 (GRCm39) D276V possibly damaging Het
Erap1 T C 13: 74,822,908 (GRCm39) probably benign Het
Hgsnat C T 8: 26,462,965 (GRCm39) V70M probably benign Het
Leprot T C 4: 101,509,673 (GRCm39) probably null Het
Lhcgr G A 17: 89,057,546 (GRCm39) A315V probably benign Het
Lrrn4 C T 2: 132,712,588 (GRCm39) V412I probably benign Het
Macrod2 G A 2: 140,261,824 (GRCm39) probably null Het
Mmaa G A 8: 80,008,199 (GRCm39) R13C probably damaging Het
Plpp4 T A 7: 128,918,023 (GRCm39) I66N probably damaging Het
Prl4a1 T C 13: 28,205,359 (GRCm39) V108A probably benign Het
Prss1 G T 6: 41,439,553 (GRCm39) K95N possibly damaging Het
Rasa2 C T 9: 96,459,606 (GRCm39) probably benign Het
Relb A G 7: 19,350,336 (GRCm39) V208A possibly damaging Het
Sema3d T C 5: 12,555,806 (GRCm39) S178P probably damaging Het
Slc18a1 A T 8: 69,526,383 (GRCm39) W102R probably benign Het
Stap1 A G 5: 86,229,132 (GRCm39) H100R probably benign Het
Suz12 T A 11: 79,889,918 (GRCm39) V143E probably damaging Het
Tmf1 A G 6: 97,153,455 (GRCm39) V206A probably benign Het
Trim16 T A 11: 62,728,058 (GRCm39) probably benign Het
Ube2b C T 11: 51,891,119 (GRCm39) probably null Het
Vmn1r223 T C 13: 23,434,254 (GRCm39) S283P probably damaging Het
Wrn T A 8: 33,809,173 (GRCm39) probably benign Het
Other mutations in Slc39a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00793:Slc39a8 APN 3 135,590,494 (GRCm39) missense probably benign 0.00
IGL02591:Slc39a8 APN 3 135,590,381 (GRCm39) missense probably damaging 1.00
IGL02868:Slc39a8 APN 3 135,561,787 (GRCm39) missense probably damaging 1.00
IGL03062:Slc39a8 APN 3 135,592,558 (GRCm39) splice site probably benign
IGL03144:Slc39a8 APN 3 135,589,971 (GRCm39) missense probably benign 0.01
IGL03329:Slc39a8 APN 3 135,590,474 (GRCm39) missense probably damaging 0.98
R1449:Slc39a8 UTSW 3 135,532,446 (GRCm39) missense probably benign 0.41
R2869:Slc39a8 UTSW 3 135,592,554 (GRCm39) splice site probably null
R2869:Slc39a8 UTSW 3 135,592,554 (GRCm39) splice site probably null
R2870:Slc39a8 UTSW 3 135,592,554 (GRCm39) splice site probably null
R2870:Slc39a8 UTSW 3 135,592,554 (GRCm39) splice site probably null
R2871:Slc39a8 UTSW 3 135,592,554 (GRCm39) splice site probably null
R2871:Slc39a8 UTSW 3 135,592,554 (GRCm39) splice site probably null
R2872:Slc39a8 UTSW 3 135,592,554 (GRCm39) splice site probably null
R2872:Slc39a8 UTSW 3 135,592,554 (GRCm39) splice site probably null
R2873:Slc39a8 UTSW 3 135,592,554 (GRCm39) splice site probably null
R2937:Slc39a8 UTSW 3 135,592,584 (GRCm39) missense probably benign 0.00
R3832:Slc39a8 UTSW 3 135,554,894 (GRCm39) missense probably damaging 0.96
R4669:Slc39a8 UTSW 3 135,561,772 (GRCm39) missense probably benign 0.35
R5057:Slc39a8 UTSW 3 135,554,790 (GRCm39) missense probably benign 0.00
R5098:Slc39a8 UTSW 3 135,563,918 (GRCm39) missense probably benign 0.01
R5677:Slc39a8 UTSW 3 135,590,449 (GRCm39) missense probably damaging 1.00
R6747:Slc39a8 UTSW 3 135,554,941 (GRCm39) critical splice donor site probably null
R7181:Slc39a8 UTSW 3 135,563,299 (GRCm39) missense possibly damaging 0.93
R7459:Slc39a8 UTSW 3 135,592,672 (GRCm39) missense probably damaging 1.00
R7506:Slc39a8 UTSW 3 135,590,067 (GRCm39) missense probably benign 0.03
R7589:Slc39a8 UTSW 3 135,590,123 (GRCm39) missense probably damaging 0.96
R7860:Slc39a8 UTSW 3 135,590,157 (GRCm39) missense probably damaging 1.00
R8059:Slc39a8 UTSW 3 135,532,347 (GRCm39) missense probably benign 0.00
R8096:Slc39a8 UTSW 3 135,590,417 (GRCm39) missense probably damaging 1.00
R8144:Slc39a8 UTSW 3 135,590,404 (GRCm39) nonsense probably null
R8218:Slc39a8 UTSW 3 135,563,325 (GRCm39) missense probably benign 0.03
R9431:Slc39a8 UTSW 3 135,563,923 (GRCm39) missense probably benign 0.03
R9595:Slc39a8 UTSW 3 135,592,688 (GRCm39) missense possibly damaging 0.81
X0023:Slc39a8 UTSW 3 135,532,305 (GRCm39) missense probably benign 0.00
Posted On 2012-12-06