Incidental Mutation 'R1585:Slc30a6'
ID 177474
Institutional Source Beutler Lab
Gene Symbol Slc30a6
Ensembl Gene ENSMUSG00000024069
Gene Name solute carrier family 30 (zinc transporter), member 6
Synonyms ZnT-6, ZnT6
MMRRC Submission 039622-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.355) question?
Stock # R1585 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 74702603-74731216 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 74725610 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024870] [ENSMUST00000179074]
AlphaFold Q8BJM5
Predicted Effect probably benign
Transcript: ENSMUST00000024870
SMART Domains Protein: ENSMUSP00000024870
Gene: ENSMUSG00000024069

DomainStartEndE-ValueType
Pfam:Cation_efflux 34 336 6.9e-45 PFAM
low complexity region 371 392 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000179074
SMART Domains Protein: ENSMUSP00000136503
Gene: ENSMUSG00000024069

DomainStartEndE-ValueType
Pfam:Cation_efflux 34 260 5.7e-30 PFAM
low complexity region 376 397 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 91.2%
Validation Efficiency 95% (81/85)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins that function as zinc transporters. This protein can regulate subcellular levels of zinc in the Golgi and vesicles. Expression of this gene is altered in the Alzheimer's disease brain plaques. [provided by RefSeq, Aug 2016]
Allele List at MGI
Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik T A 10: 28,858,518 (GRCm39) I50F possibly damaging Het
4930505A04Rik T C 11: 30,377,175 (GRCm39) probably benign Het
Aadat A T 8: 60,979,714 (GRCm39) D192V possibly damaging Het
Akap12 A G 10: 4,303,640 (GRCm39) D150G probably benign Het
Amigo3 A T 9: 107,931,231 (GRCm39) N218I probably damaging Het
Ankmy1 A G 1: 92,827,373 (GRCm39) S60P probably benign Het
Apol7e G A 15: 77,602,029 (GRCm39) S209N probably damaging Het
AW551984 A T 9: 39,510,632 (GRCm39) Y234* probably null Het
Bcam A T 7: 19,494,111 (GRCm39) D393E probably damaging Het
Card9 A G 2: 26,244,398 (GRCm39) L444P probably benign Het
Ccar1 T C 10: 62,586,780 (GRCm39) E886G unknown Het
Ccnb2 A T 9: 70,317,559 (GRCm39) probably null Het
Cd276 T C 9: 58,442,838 (GRCm39) S206G probably damaging Het
Cds1 T A 5: 101,965,828 (GRCm39) probably benign Het
Cfap96 G A 8: 46,409,515 (GRCm39) S268L probably benign Het
Chuk T C 19: 44,065,812 (GRCm39) S661G possibly damaging Het
Col17a1 T C 19: 47,639,276 (GRCm39) N1090D probably benign Het
Col3a1 A T 1: 45,367,026 (GRCm39) probably null Het
Crispld1 G T 1: 17,821,024 (GRCm39) V355F possibly damaging Het
Cspg4 A T 9: 56,806,151 (GRCm39) R2321W probably damaging Het
Dner T C 1: 84,563,177 (GRCm39) T61A probably benign Het
Dnmt3a A T 12: 3,951,660 (GRCm39) Y679F probably damaging Het
Dzip3 A T 16: 48,798,241 (GRCm39) probably benign Het
Eif3l T C 15: 78,968,381 (GRCm39) S217P possibly damaging Het
Fbxo42 T A 4: 140,925,417 (GRCm39) probably benign Het
Fhod1 A T 8: 106,063,957 (GRCm39) probably benign Het
Fzd1 T A 5: 4,806,278 (GRCm39) I435F probably damaging Het
Gapvd1 C T 2: 34,602,207 (GRCm39) V647I possibly damaging Het
Gm14496 T C 2: 181,638,002 (GRCm39) S359P possibly damaging Het
Gm5218 C A 15: 81,383,741 (GRCm39) noncoding transcript Het
Hnrnph3 A G 10: 62,851,579 (GRCm39) probably null Het
Hsd17b12 G T 2: 93,864,321 (GRCm39) T262K probably damaging Het
Igsf10 G C 3: 59,237,838 (GRCm39) P781R probably damaging Het
Il11ra1 T A 4: 41,768,207 (GRCm39) S373T probably damaging Het
Kdm3b A G 18: 34,942,345 (GRCm39) D612G probably damaging Het
Ldb1 T C 19: 46,022,903 (GRCm39) T261A probably damaging Het
Lep C A 6: 29,069,089 (GRCm39) H47N possibly damaging Het
Lrrtm2 A T 18: 35,346,428 (GRCm39) S291R possibly damaging Het
Ncor2 T C 5: 125,162,062 (GRCm39) Q404R unknown Het
Nlrp4d T C 7: 10,116,437 (GRCm39) H148R probably benign Het
Nlrp9a T A 7: 26,258,093 (GRCm39) D570E probably benign Het
Nphp3 G A 9: 103,886,413 (GRCm39) V202I probably damaging Het
Nptn T A 9: 58,548,073 (GRCm39) N159K probably benign Het
Or4a69 T A 2: 89,313,315 (GRCm39) T55S probably benign Het
Or4a72 A T 2: 89,405,746 (GRCm39) V108D possibly damaging Het
Or51f2 G A 7: 102,526,980 (GRCm39) V218I probably benign Het
Or52a24 A T 7: 103,381,585 (GRCm39) T151S possibly damaging Het
Or8b53 A T 9: 38,667,716 (GRCm39) H244L probably damaging Het
Pcolce T A 5: 137,608,769 (GRCm39) R13* probably null Het
Pdgfra A G 5: 75,353,264 (GRCm39) Y1018C probably damaging Het
Prima1 A G 12: 103,201,854 (GRCm39) S74P probably damaging Het
Prl7c1 A G 13: 27,962,838 (GRCm39) L55P probably damaging Het
Rasef A G 4: 73,658,574 (GRCm39) V513A probably damaging Het
Rgs1 T C 1: 144,121,227 (GRCm39) probably null Het
Rlf T C 4: 121,005,488 (GRCm39) E1164G probably benign Het
Rnf213 A T 11: 119,354,171 (GRCm39) N4016I probably damaging Het
Sae1 C T 7: 16,064,537 (GRCm39) probably null Het
Serping1 A T 2: 84,601,848 (GRCm39) D207E probably benign Het
Setd2 T A 9: 110,380,464 (GRCm39) D33E unknown Het
Simc1 T C 13: 54,673,071 (GRCm39) M473T probably benign Het
Slc4a5 T C 6: 83,242,669 (GRCm39) L346P probably damaging Het
Spef2 T A 15: 9,596,660 (GRCm39) Q1473L probably damaging Het
St3gal3 G T 4: 117,817,204 (GRCm39) A44D possibly damaging Het
Sv2b G T 7: 74,797,425 (GRCm39) T323K probably damaging Het
Sycp2 T A 2: 177,993,461 (GRCm39) N1228I possibly damaging Het
Thbs2 T A 17: 14,910,030 (GRCm39) M190L probably benign Het
Tnrc6a G A 7: 122,776,098 (GRCm39) V1190I probably benign Het
Utrn A T 10: 12,312,029 (GRCm39) I673K possibly damaging Het
Vmn2r114 C T 17: 23,510,675 (GRCm39) V602M probably damaging Het
Wdr7 A T 18: 64,057,989 (GRCm39) I1273L probably benign Het
Zfp618 T C 4: 63,051,175 (GRCm39) L652P probably damaging Het
Zfp804a G A 2: 81,884,095 (GRCm39) probably benign Het
Other mutations in Slc30a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01336:Slc30a6 APN 17 74,715,834 (GRCm39) splice site probably benign
IGL01592:Slc30a6 APN 17 74,726,523 (GRCm39) splice site probably benign
IGL02556:Slc30a6 APN 17 74,711,054 (GRCm39) missense probably damaging 1.00
IGL03033:Slc30a6 APN 17 74,716,373 (GRCm39) nonsense probably null
IGL03149:Slc30a6 APN 17 74,730,018 (GRCm39) missense probably damaging 1.00
R0355:Slc30a6 UTSW 17 74,730,198 (GRCm39) missense probably benign
R0791:Slc30a6 UTSW 17 74,722,640 (GRCm39) missense possibly damaging 0.89
R0792:Slc30a6 UTSW 17 74,722,640 (GRCm39) missense possibly damaging 0.89
R1507:Slc30a6 UTSW 17 74,715,857 (GRCm39) missense probably damaging 1.00
R1517:Slc30a6 UTSW 17 74,715,842 (GRCm39) missense probably benign 0.25
R1944:Slc30a6 UTSW 17 74,715,858 (GRCm39) missense probably damaging 0.99
R2925:Slc30a6 UTSW 17 74,708,999 (GRCm39) splice site probably benign
R3891:Slc30a6 UTSW 17 74,726,541 (GRCm39) missense probably benign 0.19
R4840:Slc30a6 UTSW 17 74,712,716 (GRCm39) missense probably damaging 1.00
R4863:Slc30a6 UTSW 17 74,719,649 (GRCm39) missense possibly damaging 0.84
R5330:Slc30a6 UTSW 17 74,730,190 (GRCm39) missense probably benign 0.24
R5331:Slc30a6 UTSW 17 74,730,190 (GRCm39) missense probably benign 0.24
R5562:Slc30a6 UTSW 17 74,719,700 (GRCm39) missense possibly damaging 0.91
R6458:Slc30a6 UTSW 17 74,730,108 (GRCm39) missense probably damaging 1.00
R6681:Slc30a6 UTSW 17 74,711,027 (GRCm39) missense possibly damaging 0.53
R7419:Slc30a6 UTSW 17 74,730,424 (GRCm39) missense probably benign
R7457:Slc30a6 UTSW 17 74,714,233 (GRCm39) missense probably benign 0.05
R7596:Slc30a6 UTSW 17 74,722,664 (GRCm39) missense probably benign 0.00
R7844:Slc30a6 UTSW 17 74,711,088 (GRCm39) splice site probably null
R8043:Slc30a6 UTSW 17 74,730,018 (GRCm39) missense probably damaging 0.99
R8097:Slc30a6 UTSW 17 74,719,693 (GRCm39) missense possibly damaging 0.92
R8465:Slc30a6 UTSW 17 74,722,661 (GRCm39) missense probably benign 0.04
R8557:Slc30a6 UTSW 17 74,712,685 (GRCm39) missense possibly damaging 0.82
R8878:Slc30a6 UTSW 17 74,730,112 (GRCm39) missense probably damaging 0.99
R9035:Slc30a6 UTSW 17 74,726,586 (GRCm39) missense probably benign 0.23
R9432:Slc30a6 UTSW 17 74,719,699 (GRCm39) missense possibly damaging 0.66
R9632:Slc30a6 UTSW 17 74,730,059 (GRCm39) missense probably benign 0.01
T0722:Slc30a6 UTSW 17 74,719,319 (GRCm39) critical splice donor site probably null
X0003:Slc30a6 UTSW 17 74,719,319 (GRCm39) critical splice donor site probably null
Predicted Primers
Posted On 2014-04-24