Incidental Mutation 'R7459:Slc39a8'
ID 578300
Institutional Source Beutler Lab
Gene Symbol Slc39a8
Ensembl Gene ENSMUSG00000053897
Gene Name solute carrier family 39 (metal ion transporter), member 8
Synonyms ZIP8, BIGM103, 4933419D20Rik
MMRRC Submission 045533-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7459 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 135531040-135594333 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 135592672 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 449 (I449T)
Ref Sequence ENSEMBL: ENSMUSP00000029810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029810] [ENSMUST00000081978] [ENSMUST00000167390] [ENSMUST00000180196]
AlphaFold Q91W10
Predicted Effect probably damaging
Transcript: ENSMUST00000029810
AA Change: I449T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029810
Gene: ENSMUSG00000053897
AA Change: I449T

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Zip 126 453 6.2e-76 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000081978
AA Change: I449T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080640
Gene: ENSMUSG00000053897
AA Change: I449T

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Zip 126 453 4.7e-72 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000167390
AA Change: I449T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128245
Gene: ENSMUSG00000053897
AA Change: I449T

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Zip 126 453 4.7e-72 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000180196
AA Change: I449T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136634
Gene: ENSMUSG00000053897
AA Change: I449T

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Zip 126 453 4.7e-72 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane and mitochondria, and functions in the cellular import of zinc at the onset of inflammation. It is also thought to be the primary transporter of the toxic cation cadmium, which is found in cigarette smoke. Multiple transcript variants encoding different isoforms have been found for this gene. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Oct 2008]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,756,933 (GRCm39) V730E probably damaging Het
Agbl1 G A 7: 76,069,814 (GRCm39) D449N not run Het
Agr2 A T 12: 36,047,452 (GRCm39) E96V probably benign Het
Atp1a2 A C 1: 172,114,862 (GRCm39) S308A probably benign Het
Birc7 T C 2: 180,571,150 (GRCm39) S71P possibly damaging Het
Brme1 T G 8: 84,893,981 (GRCm39) S383A probably benign Het
Camk2g T C 14: 20,829,275 (GRCm39) I73V probably damaging Het
Carf C A 1: 60,167,198 (GRCm39) T177K possibly damaging Het
Ccdc191 C T 16: 43,767,820 (GRCm39) Q665* probably null Het
Cd79a A T 7: 24,598,567 (GRCm39) T39S possibly damaging Het
Ces5a C A 8: 94,262,369 (GRCm39) probably benign Het
Dkk2 C A 3: 131,880,790 (GRCm39) T145N probably benign Het
Dot1l C T 10: 80,609,007 (GRCm39) A188V probably damaging Het
Egfr T A 11: 16,846,967 (GRCm39) V788D probably damaging Het
Esyt3 T A 9: 99,240,117 (GRCm39) H109L probably benign Het
Fam234b C T 6: 135,188,899 (GRCm39) T168I probably benign Het
Fan1 G T 7: 63,998,714 (GRCm39) S936Y probably damaging Het
Fat2 T C 11: 55,194,745 (GRCm39) E1098G probably damaging Het
Fcgbp A G 7: 27,806,710 (GRCm39) D2226G possibly damaging Het
Flacc1 T G 1: 58,730,911 (GRCm39) E48D possibly damaging Het
Flvcr2 T C 12: 85,793,831 (GRCm39) V69A probably benign Het
Foxb2 T A 19: 16,850,436 (GRCm39) H190L unknown Het
Fut4 C T 9: 14,662,602 (GRCm39) V231M possibly damaging Het
Gtf2a1 G A 12: 91,542,426 (GRCm39) A91V probably benign Het
Hip1 A G 5: 135,443,151 (GRCm39) S961P probably damaging Het
Hsf2bp C T 17: 32,165,708 (GRCm39) V296M probably benign Het
Hspbp1 G T 7: 4,687,577 (GRCm39) H11Q probably benign Het
Ighv1-84 C T 12: 115,944,432 (GRCm39) E81K probably benign Het
Isg20l2 T C 3: 87,839,485 (GRCm39) L232P possibly damaging Het
Isx A G 8: 75,619,392 (GRCm39) Y181C probably benign Het
Kif9 A G 9: 110,348,109 (GRCm39) Y644C probably damaging Het
Lin7c T A 2: 109,727,682 (GRCm39) V177D probably benign Het
Lpin3 T C 2: 160,739,220 (GRCm39) S343P probably benign Het
Mat1a A T 14: 40,842,141 (GRCm39) Q246L probably benign Het
Mlkl T C 8: 112,060,162 (GRCm39) I75V probably benign Het
Ndufa7 T A 17: 34,057,140 (GRCm39) S107T probably damaging Het
Niban3 T A 8: 72,057,671 (GRCm39) C516S possibly damaging Het
Nip7 T A 8: 107,783,968 (GRCm39) C69* probably null Het
Nipa2 A T 7: 55,583,089 (GRCm39) W219R probably damaging Het
Oas2 A C 5: 120,887,775 (GRCm39) S22A unknown Het
Obscn A G 11: 59,022,483 (GRCm39) V754A probably benign Het
Or4a76 G A 2: 89,461,012 (GRCm39) P77S probably damaging Het
Osbpl1a C T 18: 13,066,642 (GRCm39) C39Y probably damaging Het
Pcdhb16 A T 18: 37,612,606 (GRCm39) Y522F probably benign Het
Pced1a T G 2: 130,261,744 (GRCm39) D303A possibly damaging Het
Peli1 T A 11: 21,098,190 (GRCm39) Y308* probably null Het
Pfas T A 11: 68,879,481 (GRCm39) R243W Het
Pik3r5 C A 11: 68,383,416 (GRCm39) Q412K probably benign Het
Pkd1l1 A T 11: 8,852,428 (GRCm39) I1135N Het
Prune1 C A 3: 95,189,021 (GRCm39) probably benign Het
Ptpn4 T A 1: 119,587,564 (GRCm39) K926N probably damaging Het
Ptpre A G 7: 135,269,329 (GRCm39) N277S probably benign Het
Raver2 A T 4: 100,964,410 (GRCm39) D255V possibly damaging Het
Rgs20 A G 1: 4,980,857 (GRCm39) V187A probably benign Het
Rgs3 A G 4: 62,543,391 (GRCm39) E242G probably benign Het
Rims2 T G 15: 39,381,235 (GRCm39) S1055R probably benign Het
Rnf146 T C 10: 29,223,640 (GRCm39) D82G probably benign Het
Rpgrip1 A G 14: 52,378,016 (GRCm39) S455G probably benign Het
Samm50 T C 15: 84,080,057 (GRCm39) probably null Het
Sh3bgr A G 16: 96,007,122 (GRCm39) K31E probably benign Het
Slc5a3 A T 16: 91,875,905 (GRCm39) Y654F probably benign Het
Spata1 T A 3: 146,181,977 (GRCm39) L264F possibly damaging Het
Spats2l A T 1: 57,838,512 (GRCm39) probably benign Het
Stard13 A C 5: 150,971,064 (GRCm39) S848A probably damaging Het
Stat2 A G 10: 128,112,434 (GRCm39) S25G possibly damaging Het
Tet2 C T 3: 133,186,050 (GRCm39) R1129Q possibly damaging Het
Tmem232 T C 17: 65,563,384 (GRCm39) T670A probably benign Het
Tmem266 T C 9: 55,303,883 (GRCm39) L3P unknown Het
Tns3 A T 11: 8,442,793 (GRCm39) D523E probably benign Het
Trim3 A T 7: 105,267,015 (GRCm39) S455T probably damaging Het
Trim31 T C 17: 37,220,554 (GRCm39) V490A probably damaging Het
Trmt11 A C 10: 30,466,039 (GRCm39) N168K probably benign Het
Trpc4 G A 3: 54,198,653 (GRCm39) V526M probably damaging Het
Ttn C A 2: 76,749,482 (GRCm39) D3856Y possibly damaging Het
Tulp2 G A 7: 45,169,227 (GRCm39) D377N probably damaging Het
Ubl7 A G 9: 57,821,875 (GRCm39) T75A probably damaging Het
Ugt2b34 T G 5: 87,049,134 (GRCm39) D297A possibly damaging Het
Usp34 A T 11: 23,314,458 (GRCm39) H800L possibly damaging Het
Utp3 C A 5: 88,703,412 (GRCm39) L314M probably damaging Het
Zer1 A G 2: 30,003,337 (GRCm39) Y27H probably damaging Het
Other mutations in Slc39a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00661:Slc39a8 APN 3 135,563,873 (GRCm39) missense probably benign
IGL00793:Slc39a8 APN 3 135,590,494 (GRCm39) missense probably benign 0.00
IGL02591:Slc39a8 APN 3 135,590,381 (GRCm39) missense probably damaging 1.00
IGL02868:Slc39a8 APN 3 135,561,787 (GRCm39) missense probably damaging 1.00
IGL03062:Slc39a8 APN 3 135,592,558 (GRCm39) splice site probably benign
IGL03144:Slc39a8 APN 3 135,589,971 (GRCm39) missense probably benign 0.01
IGL03329:Slc39a8 APN 3 135,590,474 (GRCm39) missense probably damaging 0.98
R1449:Slc39a8 UTSW 3 135,532,446 (GRCm39) missense probably benign 0.41
R2869:Slc39a8 UTSW 3 135,592,554 (GRCm39) splice site probably null
R2869:Slc39a8 UTSW 3 135,592,554 (GRCm39) splice site probably null
R2870:Slc39a8 UTSW 3 135,592,554 (GRCm39) splice site probably null
R2870:Slc39a8 UTSW 3 135,592,554 (GRCm39) splice site probably null
R2871:Slc39a8 UTSW 3 135,592,554 (GRCm39) splice site probably null
R2871:Slc39a8 UTSW 3 135,592,554 (GRCm39) splice site probably null
R2872:Slc39a8 UTSW 3 135,592,554 (GRCm39) splice site probably null
R2872:Slc39a8 UTSW 3 135,592,554 (GRCm39) splice site probably null
R2873:Slc39a8 UTSW 3 135,592,554 (GRCm39) splice site probably null
R2937:Slc39a8 UTSW 3 135,592,584 (GRCm39) missense probably benign 0.00
R3832:Slc39a8 UTSW 3 135,554,894 (GRCm39) missense probably damaging 0.96
R4669:Slc39a8 UTSW 3 135,561,772 (GRCm39) missense probably benign 0.35
R5057:Slc39a8 UTSW 3 135,554,790 (GRCm39) missense probably benign 0.00
R5098:Slc39a8 UTSW 3 135,563,918 (GRCm39) missense probably benign 0.01
R5677:Slc39a8 UTSW 3 135,590,449 (GRCm39) missense probably damaging 1.00
R6747:Slc39a8 UTSW 3 135,554,941 (GRCm39) critical splice donor site probably null
R7181:Slc39a8 UTSW 3 135,563,299 (GRCm39) missense possibly damaging 0.93
R7506:Slc39a8 UTSW 3 135,590,067 (GRCm39) missense probably benign 0.03
R7589:Slc39a8 UTSW 3 135,590,123 (GRCm39) missense probably damaging 0.96
R7860:Slc39a8 UTSW 3 135,590,157 (GRCm39) missense probably damaging 1.00
R8059:Slc39a8 UTSW 3 135,532,347 (GRCm39) missense probably benign 0.00
R8096:Slc39a8 UTSW 3 135,590,417 (GRCm39) missense probably damaging 1.00
R8144:Slc39a8 UTSW 3 135,590,404 (GRCm39) nonsense probably null
R8218:Slc39a8 UTSW 3 135,563,325 (GRCm39) missense probably benign 0.03
R9431:Slc39a8 UTSW 3 135,563,923 (GRCm39) missense probably benign 0.03
R9595:Slc39a8 UTSW 3 135,592,688 (GRCm39) missense possibly damaging 0.81
X0023:Slc39a8 UTSW 3 135,532,305 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCAGACGAGCATTTCAGGATTC -3'
(R):5'- TTTGCAGTCTGAAACCGAAAACC -3'

Sequencing Primer
(F):5'- GCATTTCAGGATTCACCACAAGATG -3'
(R):5'- GCGTTGACGTTATACTCC -3'
Posted On 2019-10-07