Incidental Mutation 'R9431:Slc39a8'
ID 712944
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
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9431 (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 135563923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 256 (V256A)
Ref Sequence ENSEMBL: ENSMUSP00000029810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029810] [ENSMUST00000081978] [ENSMUST00000167390] [ENSMUST00000180196]
AlphaFold Q91W10
Predicted Effect probably benign
Transcript: ENSMUST00000029810
AA Change: V256A

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000029810
Gene: ENSMUSG00000053897
AA Change: V256A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Zip 126 453 6.2e-76 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000080640
Gene: ENSMUSG00000053897
AA Change: V256A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Zip 126 453 4.7e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167390
AA Change: V256A

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000128245
Gene: ENSMUSG00000053897
AA Change: V256A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Zip 126 453 4.7e-72 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180196
AA Change: V256A

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000136634
Gene: ENSMUSG00000053897
AA Change: V256A

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Zip 126 453 4.7e-72 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A C 5: 88,120,325 (GRCm39) I361L possibly damaging Het
Aebp2 C T 6: 140,592,594 (GRCm39) P446L probably damaging Het
Arhgap32 C A 9: 32,170,463 (GRCm39) A1081D probably damaging Het
Btbd16 C T 7: 130,417,516 (GRCm39) R344C probably damaging Het
Cdc73 T A 1: 143,545,740 (GRCm39) K299* probably null Het
Cpq C T 15: 33,250,078 (GRCm39) T145I probably benign Het
Creb1 C A 1: 64,615,413 (GRCm39) A215E probably damaging Het
D630045J12Rik G T 6: 38,173,814 (GRCm39) A118E probably benign Het
Dnah7a A T 1: 53,450,812 (GRCm39) F3873I possibly damaging Het
Dock10 T C 1: 80,583,593 (GRCm39) Y203C probably damaging Het
Evi5 A G 5: 107,990,150 (GRCm39) V23A probably damaging Het
Fat2 T C 11: 55,142,838 (GRCm39) D4337G probably damaging Het
Fbxl17 G A 17: 63,387,489 (GRCm39) T631I probably damaging Het
Fktn G A 4: 53,734,854 (GRCm39) G125D probably benign Het
Focad A G 4: 88,321,583 (GRCm39) M1559V unknown Het
Fras1 A T 5: 96,900,873 (GRCm39) I3031L possibly damaging Het
Gnas T C 2: 174,139,826 (GRCm39) S58P unknown Het
Hdac9 G A 12: 34,440,327 (GRCm39) Q351* probably null Het
Ibsp A T 5: 104,457,167 (GRCm39) N92I probably damaging Het
Kank1 C A 19: 25,387,866 (GRCm39) T513N probably damaging Het
Kcnh1 A G 1: 192,101,123 (GRCm39) T599A probably benign Het
Kdm5a T A 6: 120,392,253 (GRCm39) L992M probably damaging Het
Lipc T C 9: 70,723,889 (GRCm39) Y245C probably damaging Het
Mdfic2 T C 6: 98,215,164 (GRCm39) H153R probably benign Het
Morc3 C A 16: 93,667,771 (GRCm39) Y716* probably null Het
Mroh2b A T 15: 4,963,952 (GRCm39) D848V probably damaging Het
Or13c7e-ps1 A C 4: 43,781,682 (GRCm39) I216S possibly damaging Het
Or2d2b T A 7: 106,705,336 (GRCm39) H244L probably damaging Het
Or2y1b A G 11: 49,208,459 (GRCm39) I29V probably benign Het
Or5h27 A G 16: 59,006,090 (GRCm39) V252A unknown Het
Or6ae1 T A 7: 139,741,942 (GRCm39) Q307L probably benign Het
Patl1 A G 19: 11,898,815 (GRCm39) E170G probably damaging Het
Rad17 A G 13: 100,780,074 (GRCm39) V112A probably damaging Het
Rigi A G 4: 40,229,545 (GRCm39) S125P probably benign Het
Sertad2 A T 11: 20,598,425 (GRCm39) E207V probably benign Het
Slc12a5 T C 2: 164,832,178 (GRCm39) V699A possibly damaging Het
Slc13a4 A G 6: 35,278,742 (GRCm39) V49A probably damaging Het
Slc22a6 A G 19: 8,598,596 (GRCm39) T218A probably benign Het
Slc30a9 A G 5: 67,505,278 (GRCm39) D422G probably damaging Het
Slc37a3 T C 6: 39,324,363 (GRCm39) Y295C possibly damaging Het
Slc45a2 G A 15: 11,026,005 (GRCm39) E452K possibly damaging Het
Slc4a11 C T 2: 130,533,664 (GRCm39) A100T probably damaging Het
Slc7a12 G A 3: 14,546,035 (GRCm39) C60Y probably damaging Het
St8sia3 T A 18: 64,398,640 (GRCm39) L33Q probably damaging Het
Tiam1 A G 16: 89,594,918 (GRCm39) probably null Het
Trim37 T A 11: 87,077,257 (GRCm39) V529E probably benign Het
Trpv3 A T 11: 73,178,225 (GRCm39) T431S probably benign Het
Tsc22d1 TCAGCAGCAGCAGCAGCAGCAGCAGCA TCAGCAGCAGCAGCAGCAGCAGCA 14: 76,654,707 (GRCm39) probably benign Het
Ttn C T 2: 76,544,679 (GRCm39) V32808M probably damaging Het
Vmn2r27 T C 6: 124,168,856 (GRCm39) Y758C probably damaging Het
Vwa5b2 C T 16: 20,423,046 (GRCm39) P1015S probably benign Het
Whamm A G 7: 81,236,035 (GRCm39) R413G probably damaging Het
Zbtb41 C T 1: 139,350,781 (GRCm39) probably benign Het
Zfp119b A G 17: 56,246,536 (GRCm39) S217P possibly 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
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
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'- GCAGAAACCATGGAATCTTGTAC -3'
(R):5'- TTGAAATACTGACTCCCTGCG -3'

Sequencing Primer
(F):5'- AGTACTTTAAAGAGATTACACGCAG -3'
(R):5'- AAATACTGACTCCCTGCGTTCCC -3'
Posted On 2022-05-16