Incidental Mutation 'IGL01336:Slc30a6'
ID74643
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc30a6
Ensembl Gene ENSMUSG00000024069
Gene Namesolute carrier family 30 (zinc transporter), member 6
SynonymsZnT6, ZnT-6
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.444) question?
Stock #IGL01336
Quality Score
Status
Chromosome17
Chromosomal Location74395608-74424229 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 74408839 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024870] [ENSMUST00000179074]
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
Coding Region Coverage
Validation Efficiency
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly G T 11: 100,495,910 L599I probably benign Het
Adcyap1 A G 17: 93,203,964 D122G probably benign Het
Ahr A G 12: 35,503,840 V760A probably benign Het
Ankrd7 T C 6: 18,868,278 V133A probably benign Het
Bsn A G 9: 108,111,785 V2256A probably damaging Het
Cblb A G 16: 52,186,229 K765E probably benign Het
Clmp A G 9: 40,782,610 *374W probably null Het
Ddc A G 11: 11,846,630 probably null Het
Dnah10 A G 5: 124,775,512 Y1878C probably damaging Het
Ei24 A G 9: 36,786,481 probably null Het
Gm12394 T A 4: 42,793,784 Q116L possibly damaging Het
Gm8394 T C 10: 85,314,164 noncoding transcript Het
Ikbke A G 1: 131,273,756 M118T probably damaging Het
Il6st T C 13: 112,480,239 S107P possibly damaging Het
Map2k6 A G 11: 110,496,411 Y203C probably damaging Het
Mettl27 C T 5: 134,935,880 probably benign Het
Mrps14 G A 1: 160,196,995 W32* probably null Het
Naaa A C 5: 92,265,133 M208R probably benign Het
Nat2 A G 8: 67,501,541 Y101C probably damaging Het
Ncoa3 A G 2: 166,054,523 S449G probably benign Het
Olfr1507 A G 14: 52,490,748 I72T probably damaging Het
Olfr5 T C 7: 6,480,998 I53V probably benign Het
Phykpl G A 11: 51,599,456 probably benign Het
Rasgrf1 A T 9: 89,991,530 M631L probably benign Het
Rgma G A 7: 73,409,318 V57M possibly damaging Het
Samd4b G T 7: 28,413,963 D192E probably benign Het
Sesn2 T C 4: 132,499,367 T139A probably benign Het
Stra8 T C 6: 34,933,188 Y182H possibly damaging Het
Trim31 C A 17: 36,909,377 A395E probably damaging Het
Trp53bp2 G T 1: 182,431,583 R67L probably damaging Het
Trpa1 A C 1: 14,886,880 probably benign Het
Wdr91 G A 6: 34,909,543 probably benign Het
Other mutations in Slc30a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01592:Slc30a6 APN 17 74419528 splice site probably benign
IGL02556:Slc30a6 APN 17 74404059 missense probably damaging 1.00
IGL03033:Slc30a6 APN 17 74409378 nonsense probably null
IGL03149:Slc30a6 APN 17 74423023 missense probably damaging 1.00
R0355:Slc30a6 UTSW 17 74423203 missense probably benign
R0791:Slc30a6 UTSW 17 74415645 missense possibly damaging 0.89
R0792:Slc30a6 UTSW 17 74415645 missense possibly damaging 0.89
R1507:Slc30a6 UTSW 17 74408862 missense probably damaging 1.00
R1517:Slc30a6 UTSW 17 74408847 missense probably benign 0.25
R1585:Slc30a6 UTSW 17 74418615 splice site probably benign
R1944:Slc30a6 UTSW 17 74408863 missense probably damaging 0.99
R2925:Slc30a6 UTSW 17 74402004 splice site probably benign
R3891:Slc30a6 UTSW 17 74419546 missense probably benign 0.19
R4840:Slc30a6 UTSW 17 74405721 missense probably damaging 1.00
R4863:Slc30a6 UTSW 17 74412654 missense possibly damaging 0.84
R5330:Slc30a6 UTSW 17 74423195 missense probably benign 0.24
R5331:Slc30a6 UTSW 17 74423195 missense probably benign 0.24
R5562:Slc30a6 UTSW 17 74412705 missense possibly damaging 0.91
R6458:Slc30a6 UTSW 17 74423113 missense probably damaging 1.00
R6681:Slc30a6 UTSW 17 74404032 missense possibly damaging 0.53
R7419:Slc30a6 UTSW 17 74423429 missense probably benign
R7457:Slc30a6 UTSW 17 74407238 missense probably benign 0.05
R7596:Slc30a6 UTSW 17 74415669 missense probably benign 0.00
R7844:Slc30a6 UTSW 17 74404093 splice site probably null
R8043:Slc30a6 UTSW 17 74423023 missense probably damaging 0.99
R8097:Slc30a6 UTSW 17 74412698 missense possibly damaging 0.92
T0722:Slc30a6 UTSW 17 74412324 critical splice donor site probably null
X0003:Slc30a6 UTSW 17 74412324 critical splice donor site probably null
Posted On2013-10-07