Incidental Mutation 'R7313:Slc30a8'
ID 567787
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 045411-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7313 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 52158949-52199194 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 52180707 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 102 (D102A)
Ref Sequence ENSEMBL: ENSMUSP00000035257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037240]
AlphaFold Q8BGG0
Predicted Effect probably damaging
Transcript: ENSMUST00000037240
AA Change: D102A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035257
Gene: ENSMUSG00000022315
AA Change: D102A

DomainStartEndE-ValueType
Pfam:Cation_efflux 73 274 6.7e-47 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.8%
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: 110 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,773,187 (GRCm39) N805S probably damaging Het
Acat2 A G 17: 13,178,893 (GRCm39) V60A probably benign Het
Adam6b A G 12: 113,454,754 (GRCm39) I524V probably benign Het
Adamts16 C T 13: 70,921,074 (GRCm39) W590* probably null Het
Adamts9 C T 6: 92,835,102 (GRCm39) G1257D probably damaging Het
Adgrf5 C T 17: 43,755,974 (GRCm39) T644I probably benign Het
Adgrf5 T G 17: 43,763,368 (GRCm39) probably null Het
Adgrv1 T C 13: 81,668,634 (GRCm39) T2641A possibly damaging Het
Agap3 T C 5: 24,657,382 (GRCm39) F60L probably benign Het
Akap9 C A 5: 4,054,933 (GRCm39) T1626K probably damaging Het
Ampd3 C A 7: 110,405,261 (GRCm39) D603E probably damaging Het
Angpt4 T A 2: 151,767,326 (GRCm39) V119E probably benign Het
Atp6v1a T C 16: 43,934,980 (GRCm39) T70A probably benign Het
B4galt3 T A 1: 171,100,319 (GRCm39) I163N probably damaging Het
Borcs5 C T 6: 134,687,143 (GRCm39) T167M probably damaging Het
Btbd19 T A 4: 116,978,616 (GRCm39) S156C probably damaging Het
Camkk2 C T 5: 122,875,574 (GRCm39) R492Q possibly damaging Het
Casr T C 16: 36,330,033 (GRCm39) I434V probably damaging Het
Cd4 G T 6: 124,844,066 (GRCm39) T394K probably benign Het
Cps1 T C 1: 67,237,517 (GRCm39) L1006P probably damaging Het
Crx G A 7: 15,601,857 (GRCm39) P274S probably damaging Het
Crybg1 T A 10: 43,865,107 (GRCm39) I1457F probably damaging Het
Cul4a C A 8: 13,171,676 (GRCm39) probably benign Het
D430041D05Rik T A 2: 104,085,910 (GRCm39) T196S probably benign Het
Dnah3 T C 7: 119,580,567 (GRCm39) E1995G probably benign Het
Dnm1 T A 2: 32,226,021 (GRCm39) T353S probably damaging Het
Ect2l T A 10: 18,044,149 (GRCm39) T329S probably damaging Het
Elp2 T A 18: 24,742,716 (GRCm39) S83T probably benign Het
Exosc7 A G 9: 122,948,013 (GRCm39) T39A probably benign Het
Fam135a C A 1: 24,096,473 (GRCm39) V91F probably damaging Het
Gab2 G T 7: 96,731,005 (GRCm39) probably benign Het
Gbf1 A T 19: 46,268,793 (GRCm39) I1408F possibly damaging Het
Glis3 C T 19: 28,508,419 (GRCm39) E522K probably damaging Het
Gm10375 A T 14: 43,842,314 (GRCm39) C139S possibly damaging Het
Gm26558 T C 2: 70,492,211 (GRCm39) E81G unknown Het
Gm35315 C T 5: 110,227,091 (GRCm39) C116Y probably benign Het
Gm3676 T A 14: 41,366,064 (GRCm39) I84F probably damaging Het
Gm7145 T A 1: 117,913,932 (GRCm39) H271Q probably damaging Het
Gpat2 T A 2: 127,270,215 (GRCm39) I76N probably damaging Het
Hipk1 A T 3: 103,685,574 (GRCm39) S14T unknown Het
Hlcs C A 16: 94,068,362 (GRCm39) S286I probably damaging Het
Ighg1 A T 12: 113,293,078 (GRCm39) F204Y Het
Igsf10 T C 3: 59,236,837 (GRCm39) I1115V probably benign Het
Klk7 A T 7: 43,462,299 (GRCm39) H97L probably damaging Het
Kmt2d A T 15: 98,754,504 (GRCm39) D1605E unknown Het
Leng8 T A 7: 4,142,525 (GRCm39) I49N possibly damaging Het
Lingo4 A T 3: 94,310,451 (GRCm39) D463V possibly damaging Het
Lrp1 T A 10: 127,389,337 (GRCm39) N3193I probably damaging Het
Lrrc7 T A 3: 157,866,111 (GRCm39) Y1210F probably damaging Het
Mki67 G C 7: 135,296,400 (GRCm39) A2878G probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mtcl3 T A 10: 29,072,875 (GRCm39) Y722* probably null Het
Mucl2 C T 15: 103,929,445 (GRCm39) probably null Het
Myh6 A T 14: 55,197,727 (GRCm39) D470E probably benign Het
Myo1e T C 9: 70,266,667 (GRCm39) probably null Het
Myo7a G A 7: 97,713,402 (GRCm39) R1647W probably damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nmral1 C T 16: 4,531,660 (GRCm39) M198I probably benign Het
Nrap C A 19: 56,330,700 (GRCm39) L1120F probably damaging Het
Nup155 T A 15: 8,184,406 (GRCm39) I1267N probably damaging Het
Obscn G A 11: 58,898,414 (GRCm39) P6616S unknown Het
Ocstamp T G 2: 165,239,229 (GRCm39) D319A probably damaging Het
Ooep T C 9: 78,285,433 (GRCm39) D61G probably damaging Het
Or10p1 A G 10: 129,443,949 (GRCm39) S134P probably benign Het
Or1e25 A T 11: 73,493,810 (GRCm39) I135F probably damaging Het
Or52ad1 A G 7: 102,995,538 (GRCm39) V199A probably benign Het
Or6c5c T C 10: 129,298,856 (GRCm39) S104P probably damaging Het
Or7g35 A G 9: 19,495,938 (GRCm39) Y35C probably damaging Het
Otoa A G 7: 120,701,765 (GRCm39) E148G probably benign Het
Ovgp1 A T 3: 105,894,387 (GRCm39) D720V unknown Het
Padi2 T A 4: 140,660,079 (GRCm39) F294I probably damaging Het
Pcdha7 T A 18: 37,107,471 (GRCm39) N165K probably damaging Het
Pcdhb6 C A 18: 37,468,261 (GRCm39) P394H probably damaging Het
Pcdhga6 T C 18: 37,841,072 (GRCm39) V264A possibly damaging Het
Pik3ap1 G T 19: 41,284,815 (GRCm39) D623E possibly damaging Het
Prdm10 A T 9: 31,268,456 (GRCm39) K802* probably null Het
Ptgfrn G A 3: 100,980,363 (GRCm39) L326F possibly damaging Het
Rgsl1 T G 1: 153,683,622 (GRCm39) probably null Het
Rock1 T G 18: 10,129,317 (GRCm39) T347P possibly damaging Het
Rprd2 G A 3: 95,684,022 (GRCm39) P338S probably damaging Het
Sdk1 A T 5: 141,923,377 (GRCm39) N333Y probably damaging Het
Setd4 T A 16: 93,388,132 (GRCm39) H118L probably benign Het
Sirt3 G A 7: 140,458,039 (GRCm39) P37S Het
Slc16a9 G T 10: 70,119,000 (GRCm39) G440W probably damaging Het
Slc22a23 T A 13: 34,367,161 (GRCm39) I616F probably damaging Het
Slc6a4 T A 11: 76,901,527 (GRCm39) D87E possibly damaging Het
Slc9a4 A C 1: 40,668,663 (GRCm39) T769P probably benign Het
Sspo A T 6: 48,431,762 (GRCm39) Y685F probably damaging Het
Sspo C A 6: 48,450,390 (GRCm39) Q2560K probably benign Het
Stpg1 T A 4: 135,256,827 (GRCm39) L206Q probably damaging Het
Stt3b A T 9: 115,095,183 (GRCm39) Y283N probably damaging Het
Sult4a1 T C 15: 83,970,814 (GRCm39) E197G probably damaging Het
Syne1 T G 10: 4,997,635 (GRCm39) D444A probably damaging Het
Tex15 T A 8: 34,064,845 (GRCm39) V1425E possibly damaging Het
Tgm4 A G 9: 122,891,556 (GRCm39) D557G probably benign Het
Tmcc3 A G 10: 94,266,434 (GRCm39) probably benign Het
Tnfrsf8 T A 4: 145,000,952 (GRCm39) N385Y probably benign Het
Ttc4 T C 4: 106,536,017 (GRCm39) D15G possibly damaging Het
Tut1 A G 19: 8,941,413 (GRCm39) N400S probably benign Het
Usp39 T C 6: 72,313,413 (GRCm39) K259R probably benign Het
Vmn1r215 C T 13: 23,260,484 (GRCm39) H175Y probably benign Het
Vmn1r36 A T 6: 66,693,107 (GRCm39) M256K probably benign Het
Zfp128 T A 7: 12,624,461 (GRCm39) H276Q possibly damaging Het
Zfp276 T C 8: 123,994,562 (GRCm39) M543T probably damaging Het
Zfp354c A T 11: 50,705,483 (GRCm39) Y531N probably damaging Het
Zfp532 T A 18: 65,756,076 (GRCm39) M3K probably damaging Het
Zfp64 T G 2: 168,741,810 (GRCm39) K373Q probably damaging Het
Zfp764l1 C T 7: 126,990,856 (GRCm39) S377N probably benign Het
Zfp983 T G 17: 21,880,413 (GRCm39) S114A probably damaging Het
Zranb1 G A 7: 132,584,481 (GRCm39) R583K probably damaging 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
R7227:Slc30a8 UTSW 15 52,195,032 (GRCm39) missense probably benign 0.00
R7997:Slc30a8 UTSW 15 52,189,081 (GRCm39) missense possibly damaging 0.70
Predicted Primers PCR Primer
(F):5'- ATGGCCTCAGAAATGACGCC -3'
(R):5'- TGGGCAAGGCTTTCTCTTTACC -3'

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