Incidental Mutation 'IGL01988:Slc30a8'
ID 181985
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
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01988
Quality Score
Status
Chromosome 15
Chromosomal Location 52158949-52199194 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 52198601 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 349 (I349L)
Ref Sequence ENSEMBL: ENSMUSP00000035257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037240]
AlphaFold Q8BGG0
Predicted Effect probably benign
Transcript: ENSMUST00000037240
AA Change: I349L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000035257
Gene: ENSMUSG00000022315
AA Change: I349L

DomainStartEndE-ValueType
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,101,107 (GRCm39) S493R probably benign Het
Abca17 T C 17: 24,553,229 (GRCm39) N161D probably damaging Het
Ace2 C A X: 162,946,988 (GRCm39) N290K possibly damaging Het
Adam26a G A 8: 44,022,207 (GRCm39) P428S possibly damaging Het
Adgrv1 T C 13: 81,705,428 (GRCm39) R1461G probably damaging Het
Arhgef10l T C 4: 140,305,672 (GRCm39) probably benign Het
Bicc1 A G 10: 70,792,006 (GRCm39) V334A probably damaging Het
C8a T C 4: 104,683,891 (GRCm39) Y408C probably damaging Het
Col24a1 T C 3: 145,229,922 (GRCm39) probably null Het
Copa T A 1: 171,945,831 (GRCm39) N931K probably benign Het
Cr1l A G 1: 194,799,858 (GRCm39) M272T probably damaging Het
Dcaf12 T C 4: 41,298,299 (GRCm39) N283S probably benign Het
Dnttip2 T A 3: 122,069,944 (GRCm39) S386R probably benign Het
Fbll1 G T 11: 35,688,728 (GRCm39) D178E probably benign Het
Fgd6 A G 10: 93,910,197 (GRCm39) probably benign Het
Fyn T A 10: 39,409,917 (GRCm39) L408* probably null Het
Gkn2 T C 6: 87,356,257 (GRCm39) V176A probably benign Het
Gm10764 G A 10: 87,126,953 (GRCm39) C120Y unknown Het
Gpr19 A T 6: 134,846,247 (GRCm39) F442I probably damaging Het
Herc1 A G 9: 66,395,357 (GRCm39) probably benign Het
Il7 A G 3: 7,669,126 (GRCm39) Y37H possibly damaging Het
Kcnj3 G A 2: 55,327,243 (GRCm39) D11N probably benign Het
Kif1c A G 11: 70,595,762 (GRCm39) D156G probably damaging Het
Lrch1 T C 14: 75,032,813 (GRCm39) probably benign Het
Nedd1 G T 10: 92,550,021 (GRCm39) T88K probably benign Het
Nlrc3 T G 16: 3,771,803 (GRCm39) S875R probably benign Het
Optc A G 1: 133,834,667 (GRCm39) probably null Het
Or4a78 T A 2: 89,497,424 (GRCm39) I269F probably benign Het
Pcdh17 T A 14: 84,684,062 (GRCm39) D176E probably damaging Het
Pde1b A G 15: 103,433,283 (GRCm39) probably null Het
Phf11a A T 14: 59,514,807 (GRCm39) D291E probably damaging Het
Spty2d1 T A 7: 46,647,358 (GRCm39) S524C probably damaging Het
Syndig1 T C 2: 149,845,090 (GRCm39) probably benign Het
Syvn1 G A 19: 6,102,437 (GRCm39) A502T probably benign Het
Tenm2 A G 11: 35,918,078 (GRCm39) L1894P probably damaging Het
Tmem176a T A 6: 48,819,554 (GRCm39) V11E possibly damaging Het
Tpr G T 1: 150,302,750 (GRCm39) probably null Het
Txnrd2 T C 16: 18,274,768 (GRCm39) probably benign Het
Ubqln3 G A 7: 103,792,089 (GRCm39) probably benign Het
Vmn1r6 C T 6: 56,979,650 (GRCm39) T82I probably damaging Het
Wdfy4 C T 14: 32,798,437 (GRCm39) E1990K possibly damaging Het
Zdhhc7 T C 8: 120,809,329 (GRCm39) R293G probably benign Het
Zeb1 T A 18: 5,759,037 (GRCm39) L148* probably null Het
Other mutations in Slc30a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01295:Slc30a8 APN 15 52,169,955 (GRCm39) missense possibly damaging 0.47
IGL01823:Slc30a8 APN 15 52,159,358 (GRCm39) splice site probably benign
IGL02517:Slc30a8 APN 15 52,198,530 (GRCm39) missense probably benign 0.34
IGL03376:Slc30a8 APN 15 52,169,853 (GRCm39) nonsense probably null
R0480:Slc30a8 UTSW 15 52,188,966 (GRCm39) missense probably benign
R1014:Slc30a8 UTSW 15 52,194,993 (GRCm39) missense probably damaging 1.00
R1725:Slc30a8 UTSW 15 52,197,000 (GRCm39) missense possibly damaging 0.93
R1827:Slc30a8 UTSW 15 52,194,953 (GRCm39) splice site probably null
R2126:Slc30a8 UTSW 15 52,159,330 (GRCm39) missense probably benign 0.00
R2232:Slc30a8 UTSW 15 52,169,960 (GRCm39) missense probably benign 0.00
R3911:Slc30a8 UTSW 15 52,185,097 (GRCm39) missense probably benign 0.22
R4613:Slc30a8 UTSW 15 52,196,971 (GRCm39) missense probably benign 0.02
R4820:Slc30a8 UTSW 15 52,169,880 (GRCm39) missense probably benign 0.00
R5790:Slc30a8 UTSW 15 52,197,043 (GRCm39) missense possibly damaging 0.46
R6020:Slc30a8 UTSW 15 52,189,054 (GRCm39) missense probably damaging 1.00
R6125:Slc30a8 UTSW 15 52,198,530 (GRCm39) missense probably benign 0.15
R6250:Slc30a8 UTSW 15 52,198,545 (GRCm39) missense probably benign 0.22
R6701:Slc30a8 UTSW 15 52,194,970 (GRCm39) missense possibly damaging 0.84
R7227:Slc30a8 UTSW 15 52,195,032 (GRCm39) missense probably benign 0.00
R7313:Slc30a8 UTSW 15 52,180,707 (GRCm39) missense probably damaging 1.00
R7997:Slc30a8 UTSW 15 52,189,081 (GRCm39) missense possibly damaging 0.70
Posted On 2014-05-07