Incidental Mutation 'R4159:Slc39a6'
ID 315680
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 041002-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.641) question?
Stock # R4159 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 24712938-24736874 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24730885 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 362 (V362A)
Ref Sequence ENSEMBL: ENSMUSP00000064667 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070726] [ENSMUST00000152504] [ENSMUST00000154205]
AlphaFold Q8C145
Predicted Effect possibly damaging
Transcript: ENSMUST00000070726
AA Change: V362A

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000064667
Gene: ENSMUSG00000024270
AA Change: V362A

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 noncoding transcript
Transcript: ENSMUST00000128106
Predicted Effect probably benign
Transcript: ENSMUST00000152504
Predicted Effect probably benign
Transcript: ENSMUST00000154205
AA Change: V78A

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000122151
Gene: ENSMUSG00000024270
AA Change: V78A

DomainStartEndE-ValueType
Pfam:Zip 48 433 2e-94 PFAM
Meta Mutation Damage Score 0.1951 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 96% (45/47)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 T G 12: 81,466,806 (GRCm39) D605A probably damaging Het
Adcy1 A G 11: 7,013,889 (GRCm39) H97R probably damaging Het
Amdhd1 A G 10: 93,370,512 (GRCm39) Y109H probably damaging Het
Ankhd1 A G 18: 36,722,593 (GRCm39) N372S possibly damaging Het
Aoc2 G A 11: 101,216,122 (GRCm39) M68I probably damaging Het
Aspscr1 G A 11: 120,599,502 (GRCm39) A377T probably damaging Het
Bltp1 T A 3: 36,985,232 (GRCm39) M854K probably benign Het
Bltp3a A G 17: 28,103,061 (GRCm39) Y365C probably damaging Het
Cacnb1 G C 11: 97,903,100 (GRCm39) C154W probably damaging Het
Ccdc186 G A 19: 56,781,924 (GRCm39) R27* probably null Het
Clnk C A 5: 38,899,138 (GRCm39) probably benign Het
Dse A G 10: 34,029,330 (GRCm39) F587L probably damaging Het
Fut8 T C 12: 77,440,523 (GRCm39) L170P probably damaging Het
G3bp2 T C 5: 92,212,260 (GRCm39) H217R probably benign Het
Gm19345 G A 7: 19,588,886 (GRCm39) probably benign Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Kcne4 A G 1: 78,795,819 (GRCm39) N156D probably benign Het
Met G T 6: 17,562,271 (GRCm39) probably null Het
Mfsd3 T C 15: 76,585,945 (GRCm39) L26P probably damaging Het
Oasl1 A G 5: 115,075,073 (GRCm39) K378E possibly damaging Het
Pde8a A G 7: 80,970,407 (GRCm39) I510V probably benign Het
Pds5a T C 5: 65,821,839 (GRCm39) T120A possibly damaging Het
Phf8-ps G A 17: 33,285,023 (GRCm39) T593I probably benign Het
Phkb T A 8: 86,748,162 (GRCm39) probably null Het
Ptprz1 A T 6: 23,001,683 (GRCm39) K1258* probably null Het
Senp7 C A 16: 55,973,832 (GRCm39) P351Q possibly damaging Het
Slc15a5 G T 6: 138,049,938 (GRCm39) T159K possibly damaging Het
Spef2 A T 15: 9,676,407 (GRCm39) D721E probably damaging Het
Sting1 A T 18: 35,872,272 (GRCm39) Y77N probably damaging Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Tnxb A G 17: 34,930,491 (GRCm39) T2059A probably damaging Het
Ttll8 T C 15: 88,801,444 (GRCm39) N415D probably benign Het
Ube2d2a A T 18: 35,903,577 (GRCm39) probably benign Het
Unc79 A G 12: 103,036,512 (GRCm39) probably benign Het
Ush2a G A 1: 188,460,907 (GRCm39) V2723M probably damaging Het
Vmn2r102 T A 17: 19,898,088 (GRCm39) C368S probably damaging Het
Vmn2r3 G A 3: 64,194,850 (GRCm39) Q23* probably null 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
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
R7252:Slc39a6 UTSW 18 24,734,442 (GRCm39) missense possibly damaging 0.64
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'- TAAATACCAACAGCAGGAGTCTGAG -3'
(R):5'- ATTACATGAGGGTGCCGTGG -3'

Sequencing Primer
(F):5'- GCGCAATGCCAATGCTC -3'
(R):5'- AAATTCAGCTGCTCTGCTTTACATG -3'
Posted On 2015-05-14