Incidental Mutation 'R6125:Slc30a8'
ID487365
Institutional Source Beutler Lab
Gene Symbol Slc30a8
Ensembl Gene ENSMUSG00000022315
Gene Namesolute carrier family 30 (zinc transporter), member 8
SynonymsZnT-8, C820002P14Rik, ZnT8
MMRRC Submission 044272-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6125 (G1)
Quality Score124.008
Status Validated
Chromosome15
Chromosomal Location52295553-52335798 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 52335134 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 325 (D325G)
Ref Sequence ENSEMBL: ENSMUSP00000035257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037240]
Predicted Effect probably benign
Transcript: ENSMUST00000037240
AA Change: D325G

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000035257
Gene: ENSMUSG00000022315
AA Change: D325G

DomainStartEndE-ValueType
Pfam:Cation_efflux 73 274 6.7e-47 PFAM
Meta Mutation Damage Score 0.1539 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.5%
Validation Efficiency 97% (65/67)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef11 T C 3: 87,729,602 F1023S probably damaging Het
Atp1a1 G A 3: 101,590,707 R255C probably damaging Het
Bbs12 A G 3: 37,320,551 I383V probably benign Het
BC067074 A G 13: 113,317,683 T88A probably benign Het
Cacna1h G A 17: 25,385,694 P1215L probably benign Het
Calm5 A T 13: 3,854,491 K62* probably null Het
Chd8 T A 14: 52,207,034 H398L probably benign Het
Dlgap2 A T 8: 14,727,193 H146L possibly damaging Het
Dopey1 G A 9: 86,521,133 R1462H probably damaging Het
Dupd1 C A 14: 21,686,690 V115L probably benign Het
Dync2h1 T C 9: 7,168,706 N369S probably damaging Het
Fam84b T C 15: 60,823,297 N200S probably damaging Het
Fer1l4 A C 2: 156,046,987 V422G probably damaging Het
Fstl4 T C 11: 53,186,303 M629T probably benign Het
Galnt18 A G 7: 111,485,193 Y507H probably damaging Het
Gar1 C A 3: 129,830,750 probably benign Het
Gm19402 T C 10: 77,690,673 T29A probably damaging Het
Gm826 A G 2: 160,327,114 F92L unknown Het
H1f0 T A 15: 79,028,870 I50N probably damaging Het
H2-DMb1 A G 17: 34,157,465 Y186C probably damaging Het
Hgf A G 5: 16,598,161 N357S probably damaging Het
Hjurp GT GTT 1: 88,266,524 probably null Het
Hsf2 T C 10: 57,512,005 V415A probably benign Het
Ins2 C A 7: 142,679,693 probably null Het
Kel A T 6: 41,690,786 F89L probably damaging Het
Lrrc37a T C 11: 103,501,560 D1013G probably benign Het
Ltbp4 C A 7: 27,327,755 G397C probably damaging Het
Madd A G 2: 91,152,452 probably null Het
Map4k4 A G 1: 40,003,965 D660G possibly damaging Het
Mdm4 G A 1: 132,994,510 T298I possibly damaging Het
Mlip G A 9: 77,230,482 S381L probably damaging Het
Mpdz A T 4: 81,297,527 C1487S probably benign Het
Mtus1 A G 8: 41,084,539 S47P probably damaging Het
Nek1 T C 8: 61,028,701 S217P probably damaging Het
Olfr1129 T C 2: 87,575,246 I54T probably benign Het
Olfr1487 C T 19: 13,619,885 A241V probably benign Het
Pcdhb10 T C 18: 37,413,626 V585A possibly damaging Het
Perm1 A G 4: 156,217,719 E240G probably benign Het
Pkdrej T C 15: 85,816,384 T1784A probably damaging Het
Pnpla8 C T 12: 44,307,989 T644M possibly damaging Het
Rgs2 T C 1: 144,004,025 K32E probably damaging Het
Scyl3 A T 1: 163,950,576 M428L probably benign Het
Slc5a9 G T 4: 111,883,805 T548K probably damaging Het
Slc9b2 G A 3: 135,330,696 probably null Het
Slco3a1 C T 7: 74,318,506 D489N probably benign Het
Slit3 T C 11: 35,570,733 probably null Het
Stk39 C A 2: 68,392,124 G199C probably damaging Het
Tbx1 A G 16: 18,583,466 F263L probably damaging Het
Tcf21 G T 10: 22,819,766 N46K probably benign Het
Tdrd9 T A 12: 112,068,198 M1357K possibly damaging Het
Tll1 A G 8: 64,051,487 L625P probably damaging Het
Tmem131 G A 1: 36,808,306 S1237L possibly damaging Het
Trdv5 T C 14: 54,148,841 K56E possibly damaging Het
Triml2 G A 8: 43,187,622 V172I probably benign Het
Trmt44 C A 5: 35,565,498 D409Y probably damaging Het
Ube2o C T 11: 116,541,378 A921T probably damaging Het
Ube2o T C 11: 116,544,750 D404G possibly damaging Het
Ube4b T C 4: 149,398,746 T22A probably benign Het
Ugp2 A T 11: 21,329,815 F327L probably damaging Het
Virma T C 4: 11,521,172 S910P probably damaging Het
Vmn2r9 A G 5: 108,842,970 Y842H probably benign Het
Zfhx4 A G 3: 5,398,811 D1368G possibly damaging Het
Zfp980 T A 4: 145,702,638 *646R probably null Het
Zranb3 T A 1: 127,959,745 N982Y 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
IGL03376:Slc30a8 APN 15 52306457 nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- TAAAATCGGCTCCTGCTTCAG -3'
(R):5'- TGCTGCATCTTATCATGGCCTAG -3'

Sequencing Primer
(F):5'- TGCTCACATGCATGCGTG -3'
(R):5'- CTGCATCTTATCATGGCCTAGGAAAC -3'
Posted On2017-10-10