Incidental Mutation 'R5352:Slc39a6'
ID 423878
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 042931-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.641) question?
Stock # R5352 (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 24734093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 199 (Y199N)
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 probably benign
Transcript: ENSMUST00000070726
AA Change: Y199N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000064667
Gene: ENSMUSG00000024270
AA Change: Y199N

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
SMART Domains Protein: ENSMUSP00000122151
Gene: ENSMUSG00000024270

DomainStartEndE-ValueType
Pfam:Zip 48 433 2e-94 PFAM
Meta Mutation Damage Score 0.1283 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (66/66)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik T G 16: 14,436,565 (GRCm39) L206* probably null Het
Adgrv1 T C 13: 81,642,776 (GRCm39) Y3218C probably damaging Het
Agtpbp1 G A 13: 59,621,560 (GRCm39) T41M probably damaging Het
Akap6 A T 12: 52,842,880 (GRCm39) E76V probably damaging Het
Ank2 C A 3: 127,292,640 (GRCm39) probably benign Het
Atp6ap1l A C 13: 91,031,875 (GRCm39) L269R probably damaging Het
Blk A G 14: 63,613,420 (GRCm39) S363P probably damaging Het
Bltp3a G A 17: 28,106,489 (GRCm39) S1005N probably benign Het
Btnl9 T C 11: 49,069,667 (GRCm39) N204S probably benign Het
Cc2d2a G T 5: 43,863,555 (GRCm39) W672C probably damaging Het
Ccnf A G 17: 24,462,247 (GRCm39) probably null Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Chst1 A G 2: 92,443,710 (GRCm39) T61A possibly damaging Het
Col6a4 G A 9: 105,938,743 (GRCm39) T1325I probably damaging Het
Col7a1 A C 9: 108,790,479 (GRCm39) T976P unknown Het
Corin C T 5: 72,462,376 (GRCm39) S811N probably benign Het
Dnal1 T C 12: 84,183,322 (GRCm39) V27A possibly damaging Het
Dusp29 G A 14: 21,727,091 (GRCm39) R186W probably benign Het
F830045P16Rik T A 2: 129,314,821 (GRCm39) H152L probably damaging Het
Flnc A G 6: 29,449,317 (GRCm39) S1405G possibly damaging Het
Foxj1 T C 11: 116,224,905 (GRCm39) N154S possibly damaging Het
Gm12183 T C 11: 48,642,989 (GRCm39) noncoding transcript Het
Gm27047 G A 6: 130,607,982 (GRCm39) noncoding transcript Het
Grm5 A G 7: 87,724,058 (GRCm39) I783V probably damaging Het
Hk1 A T 10: 62,140,549 (GRCm39) S113T probably damaging Het
Iqca1 A T 1: 90,057,918 (GRCm39) N260K probably benign Het
Iws1 A T 18: 32,216,457 (GRCm39) K399M probably damaging Het
Kdm4d A G 9: 14,375,654 (GRCm39) I68T probably damaging Het
Man2a1 T C 17: 65,038,241 (GRCm39) I75T probably damaging Het
Med13 T A 11: 86,192,294 (GRCm39) I824L possibly damaging Het
Meioc A T 11: 102,566,139 (GRCm39) E585V probably benign Het
Mrgpre A C 7: 143,334,831 (GRCm39) F224C probably damaging Het
Muc5b T A 7: 141,418,295 (GRCm39) F3747Y possibly damaging Het
Nherf2 C T 17: 24,861,229 (GRCm39) R66H probably damaging Het
Nlrp4e T C 7: 23,052,598 (GRCm39) V839A probably benign Het
Nup210 A T 6: 91,046,298 (GRCm39) V545E probably damaging Het
Ola1 T C 2: 72,929,674 (GRCm39) T310A probably damaging Het
Pdxdc1 T C 16: 13,658,175 (GRCm39) N516S probably benign Het
Phlpp1 A G 1: 106,100,455 (GRCm39) D241G probably benign Het
Ppp1r36 T C 12: 76,474,857 (GRCm39) V85A probably damaging Het
Rasa3 A C 8: 13,681,778 (GRCm39) L57R possibly damaging Het
Rp1 T C 1: 4,417,321 (GRCm39) S1264G probably benign Het
Rprd1b A G 2: 157,900,656 (GRCm39) E247G probably damaging Het
Sag G T 1: 87,740,715 (GRCm39) V46L probably benign Het
Sat2 A T 11: 69,513,141 (GRCm39) I17F probably damaging Het
Snx2 A G 18: 53,330,997 (GRCm39) probably null Het
Thbs4 T C 13: 92,900,098 (GRCm39) D466G probably damaging Het
Tmem208 A G 8: 106,055,063 (GRCm39) D91G probably damaging Het
Tmf1 A G 6: 97,153,770 (GRCm39) L101P probably damaging Het
Tnni1 A G 1: 135,733,330 (GRCm39) T51A probably benign Het
Tor3a T G 1: 156,501,763 (GRCm39) E38A probably damaging Het
Trim31 T A 17: 37,210,810 (GRCm39) D147E possibly damaging Het
Vmn1r48 G T 6: 90,013,129 (GRCm39) A232E probably benign Het
Vmn1r89 T G 7: 12,953,284 (GRCm39) F7V probably benign Het
Zfp160 A G 17: 21,247,114 (GRCm39) T555A probably benign Het
Zfp981 C A 4: 146,621,462 (GRCm39) T129K probably benign Het
Zfpm2 T A 15: 40,733,938 (GRCm39) F106I 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
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'- GGCTCACTCACAGACTCATTG -3'
(R):5'- TCGGACCATGAGCATCACTC -3'

Sequencing Primer
(F):5'- ACAGACTCATTGCTTTTCTTCCTAG -3'
(R):5'- ACCGCAGTCACACGGTTG -3'
Posted On 2016-08-04