Incidental Mutation 'R5398:Slc39a6'
ID 429825
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 042969-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.641) question?
Stock # R5398 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 24712938-24736874 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24730936 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 61 (I61N)
Ref Sequence ENSEMBL: ENSMUSP00000122151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070726] [ENSMUST00000152504] [ENSMUST00000154205]
AlphaFold Q8C145
Predicted Effect probably damaging
Transcript: ENSMUST00000070726
AA Change: I345N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064667
Gene: ENSMUSG00000024270
AA Change: I345N

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 damaging
Transcript: ENSMUST00000154205
AA Change: I61N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122151
Gene: ENSMUSG00000024270
AA Change: I61N

DomainStartEndE-ValueType
Pfam:Zip 48 433 2e-94 PFAM
Meta Mutation Damage Score 0.4359 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.4%
Validation Efficiency 95% (59/62)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A G 8: 25,362,595 (GRCm39) L34P possibly damaging Het
Adam34 A C 8: 44,104,278 (GRCm39) C456G probably damaging Het
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Atp8b3 T C 10: 80,365,533 (GRCm39) D407G probably damaging Het
Btbd19 G A 4: 116,980,957 (GRCm39) A104V probably damaging Het
Chac1 T G 2: 119,183,725 (GRCm39) L109R possibly damaging Het
Csf2rb A G 15: 78,232,820 (GRCm39) D709G probably benign Het
Ddx42 T A 11: 106,115,724 (GRCm39) D112E probably benign Het
Dnah5 A G 15: 28,293,872 (GRCm39) K1326E probably benign Het
Dnajc3 T A 14: 119,209,799 (GRCm39) Y291* probably null Het
Dsg2 T C 18: 20,712,190 (GRCm39) F109L probably benign Het
Egfl8 T C 17: 34,833,613 (GRCm39) probably benign Het
Emb T A 13: 117,404,088 (GRCm39) I280N probably damaging Het
Gcc2 C A 10: 58,105,329 (GRCm39) N188K probably benign Het
Gdpd4 A T 7: 97,621,185 (GRCm39) H166L probably benign Het
Gm4787 G C 12: 81,424,604 (GRCm39) T518S probably benign Het
Gm8741 G T 17: 35,555,062 (GRCm39) noncoding transcript Het
Itga11 A G 9: 62,653,205 (GRCm39) T360A probably benign Het
Kctd1 A G 18: 15,195,322 (GRCm39) S434P possibly damaging Het
Kdm5b G A 1: 134,549,836 (GRCm39) probably null Het
Kif24 T C 4: 41,394,401 (GRCm39) E824G possibly damaging Het
Lekr1 T A 3: 65,688,807 (GRCm39) noncoding transcript Het
Ociad1 T A 5: 73,467,755 (GRCm39) V231E probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or1l4 C A 2: 37,091,330 (GRCm39) Q26K probably benign Het
Pcdhb1 T C 18: 37,399,207 (GRCm39) L386P probably damaging Het
Pcdhb21 G T 18: 37,648,772 (GRCm39) V634L probably benign Het
Pcnx2 T C 8: 126,614,687 (GRCm39) K255E possibly damaging Het
Pex5l T A 3: 33,006,639 (GRCm39) I577F probably damaging Het
Ppl A G 16: 4,922,786 (GRCm39) M235T probably benign Het
Prl7d1 T A 13: 27,894,057 (GRCm39) I171F probably damaging Het
Ptprt T C 2: 161,769,512 (GRCm39) Y451C probably damaging Het
Ranbp17 A T 11: 33,424,998 (GRCm39) Y453N probably damaging Het
Rgs16 C T 1: 153,616,246 (GRCm39) T11I probably benign Het
Rragb G A X: 151,923,550 (GRCm39) G24E probably damaging Het
Scn9a T C 2: 66,318,387 (GRCm39) Y1479C probably damaging Het
Slc35f4 T C 14: 49,536,304 (GRCm39) T294A probably damaging Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Sp110 C G 1: 85,516,839 (GRCm39) E219D probably damaging Het
Spink12 A G 18: 44,240,794 (GRCm39) D60G possibly damaging Het
Sppl2a T C 2: 126,761,638 (GRCm39) I289V probably benign Het
Srebf2 A G 15: 82,055,443 (GRCm39) T176A probably damaging Het
Syce1l T C 8: 114,379,145 (GRCm39) L91S probably damaging Het
Tchhl1 T C 3: 93,378,910 (GRCm39) I538T probably benign Het
Tcte1 C T 17: 45,850,752 (GRCm39) Q343* probably null Het
Tdpoz2 T G 3: 93,559,441 (GRCm39) D177A probably damaging Het
Thada T G 17: 84,733,614 (GRCm39) D1011A probably benign Het
Tnn T A 1: 159,975,092 (GRCm39) M112L probably benign Het
Traf1 T C 2: 34,835,447 (GRCm39) E325G probably damaging Het
Tyw1 T C 5: 130,305,998 (GRCm39) probably benign Het
Vmn2r111 C A 17: 22,792,252 (GRCm39) M1I probably null Het
Wdr11 C T 7: 129,232,956 (GRCm39) T996M probably damaging 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
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'- ACCAACAGCAGGAGTCTGAG -3'
(R):5'- CAGGATTACATGAGGGTGCC -3'

Sequencing Primer
(F):5'- GCGCAATGCCAATGCTC -3'
(R):5'- AGGGTGCCGTGGTCCTAAC -3'
Posted On 2016-09-06