Incidental Mutation 'R2869:Slc39a8'
ID 266426
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 040457-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2869 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 135531040-135594333 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 135592554 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136634 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029810] [ENSMUST00000081978] [ENSMUST00000167390] [ENSMUST00000180196]
AlphaFold Q91W10
Predicted Effect probably null
Transcript: ENSMUST00000029810
SMART Domains Protein: ENSMUSP00000029810
Gene: ENSMUSG00000053897

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Zip 126 453 6.2e-76 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000081978
SMART Domains Protein: ENSMUSP00000080640
Gene: ENSMUSG00000053897

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Zip 126 453 4.7e-72 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133810
Predicted Effect probably null
Transcript: ENSMUST00000167390
SMART Domains Protein: ENSMUSP00000128245
Gene: ENSMUSG00000053897

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Zip 126 453 4.7e-72 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000180196
SMART Domains Protein: ENSMUSP00000136634
Gene: ENSMUSG00000053897

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Zip 126 453 4.7e-72 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Als2 A G 1: 59,250,296 (GRCm39) S483P probably damaging Het
C030034I22Rik T A 17: 69,725,106 (GRCm39) noncoding transcript Het
Carmil1 G A 13: 24,229,051 (GRCm39) silent Het
Ccl27a C T 4: 41,769,640 (GRCm39) R73Q probably benign Het
Cd6 A G 19: 10,771,990 (GRCm39) I307T possibly damaging Het
Dennd2b A T 7: 109,156,637 (GRCm39) Y38N probably benign Het
Dhx57 A T 17: 80,558,805 (GRCm39) D1051E probably benign Het
Eif4enif1 C T 11: 3,192,586 (GRCm39) P805S probably damaging Het
Fan1 A G 7: 64,012,938 (GRCm39) I668T probably benign Het
Frmpd4 A T X: 166,260,243 (GRCm39) D1166E probably benign Homo
Gbp11 C T 5: 105,478,866 (GRCm39) D191N probably benign Het
Ggt6 A T 11: 72,328,187 (GRCm39) N229I probably benign Het
Gm26902 T A 19: 34,452,210 (GRCm39) H106L probably benign Het
Gm37340 G A 2: 6,955,739 (GRCm39) probably benign Het
Gm9874 A T 17: 30,704,763 (GRCm39) probably benign Het
Gria2 G A 3: 80,609,799 (GRCm39) T670I probably damaging Het
Gsdme A T 6: 50,185,157 (GRCm39) C432* probably null Het
Habp2 T A 19: 56,276,423 (GRCm39) probably benign Het
Hmcn1 A T 1: 150,614,467 (GRCm39) V1313D possibly damaging Het
Kcnb1 A G 2: 166,947,855 (GRCm39) L331P probably damaging Het
Klf8 A T X: 152,165,678 (GRCm39) E82D probably damaging Homo
Krt13 A G 11: 100,008,475 (GRCm39) S421P unknown Het
Lactbl1 G A 4: 136,354,097 (GRCm39) C37Y probably damaging Het
Lzts2 C A 19: 45,012,534 (GRCm39) S321* probably null Het
Marchf8 C T 6: 116,378,106 (GRCm39) probably benign Het
Meikin T C 11: 54,264,333 (GRCm39) V103A possibly damaging Het
Mki67 G A 7: 135,309,878 (GRCm39) P191L probably benign Het
Mlxip A G 5: 123,590,730 (GRCm39) M878V probably benign Het
Mpp7 G A 18: 7,461,678 (GRCm39) P65L possibly damaging Het
Myo9b G A 8: 71,786,981 (GRCm39) R721Q probably benign Het
Nav1 A G 1: 135,388,495 (GRCm39) silent Het
Nbn T A 4: 15,963,810 (GRCm39) D70E probably damaging Het
Nell1 A T 7: 49,899,405 (GRCm39) probably benign Het
Nomo1 C A 7: 45,696,361 (GRCm39) T293N probably damaging Het
Notum A G 11: 120,551,022 (GRCm39) V48A probably benign Het
Nwd2 A T 5: 63,957,671 (GRCm39) I334L probably benign Het
Or10z1 T C 1: 174,078,092 (GRCm39) S134G probably benign Het
Or4k2 T C 14: 50,423,811 (GRCm39) T288A probably benign Het
Or6c211 A T 10: 129,505,628 (GRCm39) C253* probably null Het
Ostc T C 3: 130,497,157 (GRCm39) N80S probably damaging Het
Otud4 T A 8: 80,387,702 (GRCm39) N300K possibly damaging Het
Palmd T C 3: 116,717,400 (GRCm39) R366G possibly damaging Het
Parp1 A G 1: 180,401,230 (GRCm39) D45G probably damaging Het
Pes1 C A 11: 3,926,834 (GRCm39) T372K probably benign Het
Plcl1 A T 1: 55,736,309 (GRCm39) D550V probably benign Het
Ppp1r7 T A 1: 93,285,585 (GRCm39) probably null Het
Prdx4 A G X: 154,123,460 (GRCm39) V15A probably benign Homo
Psmb8 T C 17: 34,419,144 (GRCm39) I146T probably damaging Het
Psmd13 A T 7: 140,466,968 (GRCm39) T116S probably damaging Het
Pzp A T 6: 128,462,519 (GRCm39) probably null Het
Serinc2 A G 4: 130,159,005 (GRCm39) S29P probably damaging Het
Sppl2c C T 11: 104,078,141 (GRCm39) P314S probably benign Het
St7 C T 6: 17,819,276 (GRCm39) P60L probably damaging Het
Stx3 A T 19: 11,766,938 (GRCm39) V91D probably damaging Het
Taf6l A G 19: 8,755,992 (GRCm39) probably benign Het
Tafa2 A T 10: 123,540,270 (GRCm39) H42L possibly damaging Het
Tnni3k C T 3: 154,644,387 (GRCm39) probably null Het
Tprg1 T C 16: 25,231,590 (GRCm39) W189R probably damaging Het
Trim32 A G 4: 65,532,694 (GRCm39) D417G probably damaging Het
Vmn2r68 A C 7: 84,882,834 (GRCm39) M306R probably benign Het
Vwa7 G A 17: 35,240,218 (GRCm39) M395I probably damaging Het
Ybx3 G A 6: 131,347,376 (GRCm39) A253V probably damaging Het
Zfp53 A T 17: 21,728,340 (GRCm39) E124D probably benign Het
Zzz3 T A 3: 152,152,481 (GRCm39) silent 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
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
R7459:Slc39a8 UTSW 3 135,592,672 (GRCm39) missense probably damaging 1.00
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'- ACGCATCAAGCCAGGTACATTC -3'
(R):5'- CCGCGTTGACGTTATACTCC -3'

Sequencing Primer
(F):5'- GCATCAAGCCAGGTACATTCTATCTG -3'
(R):5'- GACGTTATACTCCACTTCCGG -3'
Posted On 2015-02-18