Incidental Mutation 'R7252:Slc39a6'
ID 564037
Institutional Source Beutler Lab
Gene Symbol Slc39a6
Ensembl Gene ENSMUSG00000024270
Gene Name solute carrier family 39 (metal ion transporter), member 6
Synonyms Ermelin, Zip6
MMRRC Submission 045385-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.641) question?
Stock # R7252 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 24712938-24736874 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 24734442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 82 (N82K)
Ref Sequence ENSEMBL: ENSMUSP00000064667 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025120] [ENSMUST00000070726] [ENSMUST00000152504] [ENSMUST00000154205]
AlphaFold Q8C145
Predicted Effect probably benign
Transcript: ENSMUST00000025120
SMART Domains Protein: ENSMUSP00000025120
Gene: ENSMUSG00000024271

DomainStartEndE-ValueType
WD40 47 91 1.06e-3 SMART
WD40 94 143 2.24e-2 SMART
WD40 196 237 4.69e-5 SMART
WD40 271 319 2.44e-3 SMART
Blast:WD40 329 368 1e-20 BLAST
WD40 376 415 2.12e-3 SMART
WD40 429 467 1.71e1 SMART
WD40 556 600 7.43e-1 SMART
WD40 603 642 1.93e-6 SMART
WD40 661 697 1.55e-5 SMART
Blast:WD40 709 753 7e-21 BLAST
WD40 766 825 1.92e0 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000070726
AA Change: N82K

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000064667
Gene: ENSMUSG00000024270
AA Change: N82K

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 94 141 N/A INTRINSIC
low complexity region 187 198 N/A INTRINSIC
Pfam:Zip 332 753 3e-104 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152504
Predicted Effect probably benign
Transcript: ENSMUST00000154205
SMART Domains Protein: ENSMUSP00000122151
Gene: ENSMUSG00000024270

DomainStartEndE-ValueType
Pfam:Zip 48 433 2e-94 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 99% (81/82)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A6 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a null allele do not display any gross skin abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930480E11Rik G T X: 77,414,311 (GRCm39) M345I probably benign Het
Abcc2 T A 19: 43,816,388 (GRCm39) I1226N probably damaging Het
Adarb2 A G 13: 8,620,216 (GRCm39) E234G probably benign Het
Ankrd52 T C 10: 128,217,865 (GRCm39) S282P probably damaging Het
Arhgef12 A T 9: 42,927,205 (GRCm39) S306R probably benign Het
Baiap2 G T 11: 119,893,865 (GRCm39) A514S probably benign Het
BC030500 T A 8: 59,364,838 (GRCm39) probably null Het
C1qtnf12 T A 4: 156,047,072 (GRCm39) W13R unknown Het
Ccdc158 A G 5: 92,798,647 (GRCm39) V351A probably benign Het
Cct8 T C 16: 87,281,807 (GRCm39) E485G probably benign Het
Cep85 T C 4: 133,875,342 (GRCm39) D542G probably benign Het
Clhc1 T A 11: 29,513,937 (GRCm39) S340R probably benign Het
Cnot4 A T 6: 35,046,362 (GRCm39) D168E probably damaging Het
Cntn5 G A 9: 9,831,640 (GRCm39) T375I probably benign Het
Ctc1 T A 11: 68,917,000 (GRCm39) I298N probably damaging Het
Dchs2 T A 3: 83,232,610 (GRCm39) N2198K probably benign Het
Ddx6 G A 9: 44,535,050 (GRCm39) probably null Het
Defb11 A G 8: 22,395,473 (GRCm39) I68T probably benign Het
Dip2a C T 10: 76,109,036 (GRCm39) V1212I not run Het
Dop1a T A 9: 86,382,874 (GRCm39) I269N probably damaging Het
Efna3 C T 3: 89,223,971 (GRCm39) G73S possibly damaging Het
Fam98b C G 2: 117,094,373 (GRCm39) R228G probably damaging Het
Fancd2 A T 6: 113,533,246 (GRCm39) N521I probably damaging Het
Farsa A G 8: 85,587,957 (GRCm39) D134G probably damaging Het
Fat2 A T 11: 55,202,088 (GRCm39) F329I probably damaging Het
Gm14399 A T 2: 174,974,991 (GRCm39) I43K probably damaging Het
Gpr15 A G 16: 58,538,760 (GRCm39) S110P probably damaging Het
Gpr157 T C 4: 150,183,331 (GRCm39) V167A probably benign Het
Hacd4 A G 4: 88,345,000 (GRCm39) I134T possibly damaging Het
Hpgd T A 8: 56,751,461 (GRCm39) N96K probably damaging Het
Insm2 A T 12: 55,647,305 (GRCm39) T350S probably benign Het
Iqch C T 9: 63,419,518 (GRCm39) probably null Het
Kmt2d A G 15: 98,742,147 (GRCm39) S4338P unknown Het
Krtap9-3 A G 11: 99,488,796 (GRCm39) S29P probably benign Het
Kyat3 T A 3: 142,426,219 (GRCm39) S87T probably benign Het
Minar2 A G 18: 59,199,980 (GRCm39) probably null Het
Mrpl46 T C 7: 78,430,336 (GRCm39) T145A probably benign Het
Neb A G 2: 52,214,973 (GRCm39) probably null Het
Or2aj5 A T 16: 19,425,249 (GRCm39) H55Q probably damaging Het
Or4c124 T A 2: 89,156,629 (GRCm39) probably benign Het
Or6x1 C T 9: 40,098,657 (GRCm39) T82I probably benign Het
Or7g17 A G 9: 18,768,548 (GRCm39) Y200C probably damaging Het
Or9a7 A G 6: 40,521,703 (GRCm39) I70T probably benign Het
Otogl T C 10: 107,657,804 (GRCm39) D1042G probably benign Het
Paxip1 C T 5: 27,965,084 (GRCm39) V659I probably damaging Het
Pfkl A G 10: 77,829,263 (GRCm39) W382R probably damaging Het
Pfn1 A G 11: 70,545,297 (GRCm39) W4R probably damaging Het
Pik3c2b G A 1: 133,022,472 (GRCm39) R1138H probably benign Het
Pkd1l3 A G 8: 110,387,330 (GRCm39) D1758G probably benign Het
Pmpca G C 2: 26,285,046 (GRCm39) E424Q possibly damaging Het
Pramel29 T C 4: 143,939,510 (GRCm39) D9G possibly damaging Het
Prdm12 A G 2: 31,532,386 (GRCm39) N132S possibly damaging Het
Prokr2 T A 2: 132,223,360 (GRCm39) M61L probably benign Het
Ralgapa2 T C 2: 146,184,671 (GRCm39) probably null Het
Ralgps1 A T 2: 33,058,200 (GRCm39) D301E probably benign Het
Rcbtb2 T C 14: 73,404,220 (GRCm39) Y231H probably damaging Het
Rcc2 G A 4: 140,429,586 (GRCm39) C40Y probably benign Het
Relb C A 7: 19,346,538 (GRCm39) E345* probably null Het
Rhbdl3 A C 11: 80,228,411 (GRCm39) M294L possibly damaging Het
Rpl24 G A 16: 55,790,479 (GRCm39) A112T possibly damaging Het
Rsbn1l C T 5: 21,113,196 (GRCm39) R442Q probably damaging Het
Rxfp3 A T 15: 11,036,025 (GRCm39) I449N probably benign Het
Sema4c A C 1: 36,589,096 (GRCm39) C677G probably damaging Het
Sf3b3 A C 8: 111,566,562 (GRCm39) I256S probably damaging Het
Shank1 C T 7: 43,976,585 (GRCm39) A561V unknown Het
Slc3a2 T C 19: 8,700,521 (GRCm39) probably benign Het
Stard13 T C 5: 150,986,634 (GRCm39) Q292R probably benign Het
Tgm6 A G 2: 129,986,884 (GRCm39) R451G probably damaging Het
Tspo G T 15: 83,456,466 (GRCm39) G83V probably damaging Het
Ubxn10 T C 4: 138,448,187 (GRCm39) Q163R probably benign Het
Ushbp1 A G 8: 71,847,246 (GRCm39) S129P probably benign Het
Vmn2r23 T A 6: 123,718,540 (GRCm39) V631D probably damaging Het
Vmn2r24 T C 6: 123,764,191 (GRCm39) I356T possibly damaging Het
Vmn2r84 C T 10: 130,222,279 (GRCm39) C647Y probably damaging Het
Vps13a T C 19: 16,638,428 (GRCm39) E2356G probably benign Het
Wdr64 A G 1: 175,603,240 (GRCm39) T614A probably benign Het
Zdhhc16 G T 19: 41,929,990 (GRCm39) W271L probably damaging Het
Zer1 A C 2: 29,991,904 (GRCm39) S652A probably damaging Het
Zfp287 A G 11: 62,615,655 (GRCm39) V224A probably damaging Het
Zfp438 A T 18: 5,214,874 (GRCm39) L28* probably null Het
Zfp830 G A 11: 82,655,534 (GRCm39) A113T probably benign Het
Zfp865 G T 7: 5,037,416 (GRCm39) probably benign Het
Other mutations in Slc39a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00943:Slc39a6 APN 18 24,722,802 (GRCm39) critical splice donor site probably null
IGL01412:Slc39a6 APN 18 24,718,413 (GRCm39) missense probably damaging 1.00
IGL02182:Slc39a6 APN 18 24,734,347 (GRCm39) missense probably damaging 0.99
IGL02332:Slc39a6 APN 18 24,722,880 (GRCm39) missense probably benign 0.22
IGL02648:Slc39a6 APN 18 24,715,424 (GRCm39) missense probably damaging 1.00
Lobar UTSW 18 24,729,386 (GRCm39) nonsense probably null
R0066:Slc39a6 UTSW 18 24,732,326 (GRCm39) missense probably damaging 1.00
R0066:Slc39a6 UTSW 18 24,732,326 (GRCm39) missense probably damaging 1.00
R0729:Slc39a6 UTSW 18 24,734,527 (GRCm39) missense probably benign 0.00
R1128:Slc39a6 UTSW 18 24,718,349 (GRCm39) missense probably damaging 1.00
R1621:Slc39a6 UTSW 18 24,733,946 (GRCm39) missense probably benign 0.08
R1799:Slc39a6 UTSW 18 24,718,524 (GRCm39) missense probably benign 0.00
R1800:Slc39a6 UTSW 18 24,718,259 (GRCm39) missense probably damaging 1.00
R1885:Slc39a6 UTSW 18 24,734,539 (GRCm39) splice site probably null
R4159:Slc39a6 UTSW 18 24,730,885 (GRCm39) missense possibly damaging 0.88
R4809:Slc39a6 UTSW 18 24,718,531 (GRCm39) nonsense probably null
R4903:Slc39a6 UTSW 18 24,730,925 (GRCm39) missense probably damaging 1.00
R4994:Slc39a6 UTSW 18 24,729,351 (GRCm39) missense probably damaging 1.00
R5352:Slc39a6 UTSW 18 24,734,093 (GRCm39) missense probably benign 0.00
R5398:Slc39a6 UTSW 18 24,730,936 (GRCm39) missense probably damaging 1.00
R5832:Slc39a6 UTSW 18 24,734,669 (GRCm39) missense possibly damaging 0.81
R6182:Slc39a6 UTSW 18 24,734,013 (GRCm39) missense probably benign 0.16
R6853:Slc39a6 UTSW 18 24,732,376 (GRCm39) missense possibly damaging 0.71
R7226:Slc39a6 UTSW 18 24,717,084 (GRCm39) missense probably damaging 1.00
R7263:Slc39a6 UTSW 18 24,734,260 (GRCm39) missense probably benign
R7328:Slc39a6 UTSW 18 24,733,987 (GRCm39) missense probably benign 0.00
R7388:Slc39a6 UTSW 18 24,717,106 (GRCm39) missense probably damaging 1.00
R7395:Slc39a6 UTSW 18 24,718,332 (GRCm39) missense probably damaging 1.00
R8393:Slc39a6 UTSW 18 24,732,331 (GRCm39) missense possibly damaging 0.89
R8695:Slc39a6 UTSW 18 24,736,811 (GRCm39) unclassified probably benign
R8889:Slc39a6 UTSW 18 24,729,386 (GRCm39) nonsense probably null
R8892:Slc39a6 UTSW 18 24,729,386 (GRCm39) nonsense probably null
R9172:Slc39a6 UTSW 18 24,715,399 (GRCm39) missense probably damaging 0.99
R9178:Slc39a6 UTSW 18 24,733,970 (GRCm39) missense probably damaging 0.99
R9215:Slc39a6 UTSW 18 24,732,323 (GRCm39) missense probably benign 0.04
R9349:Slc39a6 UTSW 18 24,718,493 (GRCm39) missense probably benign
X0065:Slc39a6 UTSW 18 24,718,432 (GRCm39) missense possibly damaging 0.95
Z1176:Slc39a6 UTSW 18 24,718,372 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTACCAGCAACCGTGTGACTG -3'
(R):5'- TTGCCCTTTGGGTTACAAGCC -3'

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