Incidental Mutation 'IGL03376:Slc30a8'
ID 420496
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc30a8
Ensembl Gene ENSMUSG00000022315
Gene Name solute carrier family 30 (zinc transporter), member 8
Synonyms ZnT-8, C820002P14Rik, ZnT8
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03376
Quality Score
Chromosome 15
Chromosomal Location 52295553-52335798 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 52306457 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 27 (R27*)
Ref Sequence ENSEMBL: ENSMUSP00000035257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037240]
AlphaFold Q8BGG0
Predicted Effect probably null
Transcript: ENSMUST00000037240
AA Change: R27*
SMART Domains Protein: ENSMUSP00000035257
Gene: ENSMUSG00000022315
AA Change: R27*

Pfam:Cation_efflux 73 274 6.7e-47 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 is a zinc efflux transporter involved in the accumulation of zinc in intracellular vesicles. This gene is expressed at a high level only in the pancreas, particularly in islets of Langerhans. The encoded protein colocalizes with insulin in the secretory pathway granules of the insulin-secreting INS-1 cells. Allelic variants of this gene exist that confer susceptibility to diabetes mellitus, noninsulin-dependent (NIDDM). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced islet zinc levels, circulating insulin levels, and glucose-stimulated insulin secretion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6v1b2 T C 8: 69,102,159 probably benign Het
Ccdc122 A G 14: 77,068,912 E41G probably damaging Het
Cdh3 C T 8: 106,541,404 T357I probably benign Het
Cfap57 T A 4: 118,584,720 Q717L probably damaging Het
Cfap58 A T 19: 48,034,725 T859S possibly damaging Het
Cmtr1 C T 17: 29,691,411 R497C probably benign Het
Csmd2 T C 4: 128,517,671 I2494T probably benign Het
Dmkn C T 7: 30,771,242 T385I possibly damaging Het
Eml3 A G 19: 8,933,790 D260G probably damaging Het
Gbf1 T C 19: 46,262,521 F493L possibly damaging Het
Gjb5 C T 4: 127,356,255 R32H probably damaging Het
Hpx C T 7: 105,592,251 probably benign Het
Ikzf3 T A 11: 98,488,953 H163L probably damaging Het
Irak3 G A 10: 120,146,636 probably benign Het
Itih5 G A 2: 10,206,773 V275I probably benign Het
Klc1 G T 12: 111,775,953 E174D probably damaging Het
Ly6g6e A G 17: 35,078,232 *108W probably null Het
Mcph1 T C 8: 18,596,973 S31P probably damaging Het
Mettl4 A T 17: 94,735,371 S346T probably damaging Het
Myo3a A T 2: 22,600,074 probably benign Het
Olfr703 T A 7: 106,845,470 N286K probably damaging Het
Otol1 A G 3: 70,027,512 E279G probably damaging Het
Pappa T A 4: 65,196,834 N722K probably benign Het
Pramel7 A G 2: 87,489,603 S449P probably damaging Het
Rassf9 A G 10: 102,545,198 N145S probably damaging Het
Robo2 T C 16: 73,956,492 I158M probably damaging Het
Sbf1 A G 15: 89,289,016 probably benign Het
Tmco2 T A 4: 121,109,052 T36S probably benign Het
Tns4 T C 11: 99,078,556 S360G probably benign Het
Vwa8 A G 14: 79,183,134 probably null Het
Wwc1 C T 11: 35,852,294 R900Q possibly damaging Het
Zzef1 T C 11: 72,876,551 probably benign Het
Other mutations in Slc30a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Slc30a8 APN 15 52306559 missense possibly damaging 0.47
IGL01823:Slc30a8 APN 15 52295962 splice site probably benign
IGL01988:Slc30a8 APN 15 52335205 missense probably benign 0.00
IGL02517:Slc30a8 APN 15 52335134 missense probably benign 0.34
R0480:Slc30a8 UTSW 15 52325570 missense probably benign
R1014:Slc30a8 UTSW 15 52331597 missense probably damaging 1.00
R1725:Slc30a8 UTSW 15 52333604 missense possibly damaging 0.93
R1827:Slc30a8 UTSW 15 52331557 splice site probably null
R2126:Slc30a8 UTSW 15 52295934 missense probably benign 0.00
R2232:Slc30a8 UTSW 15 52306564 missense probably benign 0.00
R3911:Slc30a8 UTSW 15 52321701 missense probably benign 0.22
R4613:Slc30a8 UTSW 15 52333575 missense probably benign 0.02
R4820:Slc30a8 UTSW 15 52306484 missense probably benign 0.00
R5790:Slc30a8 UTSW 15 52333647 missense possibly damaging 0.46
R6020:Slc30a8 UTSW 15 52325658 missense probably damaging 1.00
R6125:Slc30a8 UTSW 15 52335134 missense probably benign 0.15
R6250:Slc30a8 UTSW 15 52335149 missense probably benign 0.22
R6701:Slc30a8 UTSW 15 52331574 missense possibly damaging 0.84
R7227:Slc30a8 UTSW 15 52331636 missense probably benign 0.00
R7313:Slc30a8 UTSW 15 52317311 missense probably damaging 1.00
R7997:Slc30a8 UTSW 15 52325685 missense possibly damaging 0.70
Posted On 2016-08-02