Incidental Mutation 'R7227:Slc30a8'
ID 562250
Institutional Source Beutler Lab
Gene Symbol Slc30a8
Ensembl Gene ENSMUSG00000022315
Gene Name solute carrier family 30 (zinc transporter), member 8
Synonyms ZnT-8, C820002P14Rik, ZnT8
MMRRC Submission 045299-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7227 (G1)
Quality Score 225.009
Status Validated
Chromosome 15
Chromosomal Location 52158949-52199194 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 52195032 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 264 (M264V)
Ref Sequence ENSEMBL: ENSMUSP00000035257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037240]
AlphaFold Q8BGG0
Predicted Effect probably benign
Transcript: ENSMUST00000037240
AA Change: M264V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000035257
Gene: ENSMUSG00000022315
AA Change: M264V

DomainStartEndE-ValueType
Pfam:Cation_efflux 73 274 6.7e-47 PFAM
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 97% (57/59)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik A T 7: 130,952,449 (GRCm39) L344H probably damaging Het
Abcb1b T A 5: 8,875,593 (GRCm39) S589T probably damaging Het
Acsm2 A C 7: 119,190,556 (GRCm39) I520L probably benign Het
Ap2a2 T C 7: 141,200,784 (GRCm39) Y544H probably damaging Het
Ascc1 T A 10: 59,843,560 (GRCm39) Y41N probably benign Het
Bend3 T A 10: 43,387,401 (GRCm39) L598Q probably damaging Het
Cfap74 T G 4: 155,545,405 (GRCm39) Y1108* probably null Het
Cxcl17 C A 7: 25,102,319 (GRCm39) R41S probably damaging Het
Cyp2c69 C A 19: 39,869,610 (GRCm39) M136I possibly damaging Het
Dnah2 A G 11: 69,312,222 (GRCm39) Y4370H probably damaging Het
Dzip3 T A 16: 48,771,932 (GRCm39) Q579L probably damaging Het
Enpp3 C T 10: 24,693,742 (GRCm39) M195I unknown Het
Esyt2 A G 12: 116,305,745 (GRCm39) D325G probably damaging Het
Fat1 T G 8: 45,463,646 (GRCm39) I1396S probably benign Het
Gigyf1 T A 5: 137,522,085 (GRCm39) I661K unknown Het
Gja1 T A 10: 56,263,752 (GRCm39) L37Q probably damaging Het
Hivep1 T C 13: 42,310,387 (GRCm39) S876P probably benign Het
Hk3 C T 13: 55,160,053 (GRCm39) R362H probably benign Het
Ier3ip1 T A 18: 77,027,330 (GRCm39) M53K probably benign Het
Klhl5 T C 5: 65,298,631 (GRCm39) S137P probably benign Het
Kremen2 G T 17: 23,963,573 (GRCm39) Y70* probably null Het
Lag3 C T 6: 124,885,457 (GRCm39) G308S possibly damaging Het
Mab21l4 G T 1: 93,079,736 (GRCm39) N451K probably benign Het
Map4k2 T A 19: 6,396,624 (GRCm39) L542Q probably damaging Het
Mef2d G A 3: 88,065,514 (GRCm39) probably null Het
Mkrn3 C A 7: 62,069,415 (GRCm39) R125S probably benign Het
Mpp3 T A 11: 101,895,904 (GRCm39) Y457F possibly damaging Het
Mrpl12 T A 11: 120,379,178 (GRCm39) I175N probably damaging Het
Mybbp1a G T 11: 72,338,585 (GRCm39) K728N possibly damaging Het
Nfkb1 C T 3: 135,332,420 (GRCm39) V112M probably damaging Het
Nucb2 A T 7: 116,125,311 (GRCm39) D123V probably damaging Het
Or12j2 A G 7: 139,915,534 (GRCm39) probably benign Het
Orc3 T C 4: 34,572,542 (GRCm39) T629A probably benign Het
Pdk1 T A 2: 71,714,245 (GRCm39) N218K possibly damaging Het
Plce1 A G 19: 38,715,346 (GRCm39) T1298A probably benign Het
Ppan T A 9: 20,799,496 (GRCm39) probably benign Het
Rap1gds1 C T 3: 138,663,228 (GRCm39) G373R probably damaging Het
Scn2a A C 2: 65,582,367 (GRCm39) I1572L probably damaging Het
Sec16a A T 2: 26,328,935 (GRCm39) Y1027N probably benign Het
Serpinb3a T A 1: 106,979,359 (GRCm39) T48S probably damaging Het
Slc44a3 A T 3: 121,303,879 (GRCm39) C286S possibly damaging Het
Slc8a2 T C 7: 15,878,906 (GRCm39) I464T possibly damaging Het
Smco1 T C 16: 32,092,833 (GRCm39) M168T possibly damaging Het
Spns2 A T 11: 72,349,513 (GRCm39) Y246* probably null Het
Ssbp2 T C 13: 91,823,244 (GRCm39) M213T probably benign Het
Stk40 G T 4: 126,017,559 (GRCm39) A29S probably benign Het
Thrap3 A T 4: 126,067,296 (GRCm39) F683I probably damaging Het
Tmc5 A G 7: 118,269,889 (GRCm39) T880A possibly damaging Het
Trim38 T A 13: 23,969,946 (GRCm39) N168K possibly damaging Het
Ube2d1 T A 10: 71,091,702 (GRCm39) Y134F possibly damaging Het
Vmn1r67 T A 7: 10,181,475 (GRCm39) Y246* probably null Het
Vmn2r18 T C 5: 151,496,264 (GRCm39) T485A probably damaging Het
Wrn T A 8: 33,738,974 (GRCm39) I1285F probably damaging Het
Xrcc1 C A 7: 24,246,757 (GRCm39) H8Q probably damaging Het
Zkscan4 T C 13: 21,668,413 (GRCm39) V317A probably benign 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
IGL01988:Slc30a8 APN 15 52,198,601 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- AATTGAACACCCAGGGTCAG -3'
(R):5'- AGTTCCACAGAGGCAGAAAC -3'

Sequencing Primer
(F):5'- CACCCAGGGTCAGGAAGATC -3'
(R):5'- GTTCCACAGAGGCAGAAACCAAAC -3'
Posted On 2019-06-26