Incidental Mutation 'T0722:Slc30a6'
ID67355
Institutional Source Beutler Lab
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: 0.254) question?
Stock #T0722 (G3) of strain 711
Quality Score225
Status Validated
Chromosome17
Chromosomal Location74395608-74424229 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 74412324 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024870] [ENSMUST00000179074]
Predicted Effect probably null
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 null
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 0.678 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.5%
Validation Efficiency 95% (42/44)
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
Adam6b A G 12: 113,489,577 T5A possibly damaging Het
Adam6b T A 12: 113,491,268 D568E probably benign Het
Ago3 C T 4: 126,404,263 V155I probably benign Het
Ago3 T G 4: 126,404,296 T144P probably benign Het
Ago3 C T 4: 126,404,305 A141T probably benign Het
Ago3 G A 4: 126,404,310 A139V probably benign Het
Ahdc1 ACCTCCT ACCTCCTCCT 4: 133,062,754 probably benign Het
Atp6v1g3 T A 1: 138,273,853 probably benign Het
Azin2 A G 4: 128,946,134 Y222H probably benign Het
Bicd2 C A 13: 49,379,651 P571Q probably benign Het
Camta2 A G 11: 70,684,005 I75T probably damaging Het
Casp1 A T 9: 5,299,851 H108L probably benign Het
Cdk5r1 G T 11: 80,477,881 V125F probably benign Het
Cherp TTGGACCTGGACCTGGACCTGGACCTGGA TTGGACCTGGACCTGGACCTGGA 8: 72,462,034 probably benign Het
Cngb1 A G 8: 95,296,650 M240T probably benign Het
Cngb1 G T 8: 95,297,819 Q205K probably damaging Het
Cngb1 T C 8: 95,303,696 probably benign Het
Cngb1 G A 8: 95,303,714 probably benign Het
Cog8 G T 8: 107,048,993 L580I probably benign Het
Copa A G 1: 172,111,948 E593G possibly damaging Het
Ctrc T TA 4: 141,845,196 probably null Het
Cwf19l2 T C 9: 3,456,755 F696S probably benign Het
Ddi2 G A 4: 141,713,473 probably benign Het
Eml5 T C 12: 98,841,582 D984G probably null Het
Fam135b T G 15: 71,463,885 T487P probably damaging Het
Fstl3 A G 10: 79,780,163 Y161C probably damaging Het
Gja4 G C 4: 127,312,231 H246Q probably benign Het
Gm8186 C T 17: 26,099,127 R32Q probably benign Het
Gm8394 A G 10: 85,313,593 noncoding transcript Het
Jakmip1 C A 5: 37,118,903 A519D probably damaging Het
Jcad G T 18: 4,675,531 A1098S probably benign Het
Klhl14 T C 18: 21,558,135 Y446C probably damaging Het
Lims1 A G 10: 58,418,455 N344D probably benign Het
Marco A T 1: 120,474,712 W502R probably damaging Het
Mmp13 G T 9: 7,280,857 M413I possibly damaging Het
Mmp25 G A 17: 23,631,218 A456V possibly damaging Het
Msi2 A T 11: 88,394,597 M207K probably damaging Het
Myh8 G A 11: 67,304,436 R1692Q probably benign Het
Nbas A G 12: 13,352,808 I788V probably benign Het
Nup188 A G 2: 30,322,681 D632G probably damaging Het
Olfr1141 T A 2: 87,753,123 Y290F probably damaging Het
Olfr1219 A G 2: 89,074,959 V44A probably benign Het
Olfr354 T C 2: 36,907,570 V208A probably benign Het
Olfr360 T G 2: 37,068,437 L44R probably damaging Het
Opa1 T C 16: 29,610,930 probably null Het
Pabpc1l G A 2: 164,042,420 G359D possibly damaging Het
Papd7 G A 13: 69,506,955 R224* probably null Het
Plekhm2 TTCCTCCTCCT TTCCTCCT 4: 141,631,981 probably benign Het
Pomgnt1 C T 4: 116,137,427 probably benign Het
Qser1 A G 2: 104,786,832 C1122R possibly damaging Het
Rfx8 A G 1: 39,683,612 S282P probably damaging Het
Sec14l2 C T 11: 4,103,673 probably null Het
Sim2 C A 16: 94,109,422 H228N probably benign Het
Slc15a2 A G 16: 36,772,445 M179T probably benign Het
Smarcc1 G A 9: 110,206,085 E859K possibly damaging Het
Snx1 CTT CTTGTT 9: 66,104,927 probably benign Het
Spen A G 4: 141,474,353 V2321A probably benign Het
Spta1 A G 1: 174,191,066 probably benign Het
Sytl1 C A 4: 133,256,851 probably benign Het
Sytl1 A G 4: 133,256,853 probably benign Het
Terf2 T C 8: 107,076,674 K425E probably benign Het
Tmem26 A G 10: 68,778,718 E321G probably benign Het
Toe1 T C 4: 116,806,093 I62M probably benign Het
Uck2 A T 1: 167,234,711 D149E probably benign Het
Wnt5a G A 14: 28,511,925 A17T probably benign Het
Yif1b T C 7: 29,238,613 probably null Het
Zbtb8a GG GGATG 4: 129,360,019 probably benign Het
Zbtb8a T C 4: 129,360,212 H163R probably benign Het
Zkscan4 AGAGGAG AGAG 13: 21,479,200 probably benign Het
Zmym1 C T 4: 127,047,947 D785N probably benign Het
Zmym1 C T 4: 127,048,250 V684I probably benign Het
Zmym1 A C 4: 127,049,673 H307Q probably benign Het
Other mutations in Slc30a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01336:Slc30a6 APN 17 74408839 splice site probably benign
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
X0003:Slc30a6 UTSW 17 74412324 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AGGAGAAAGTTTGCCCTTTGCCG -3'
(R):5'- CCCCGTGACATCAGTGAAAGCATAC -3'

Sequencing Primer
(F):5'- GTATTACATGGTCACTGCCGAAC -3'
(R):5'- CTGTACTCCTCAGAGAGCAAGG -3'
Posted On2013-09-03