Incidental Mutation 'R1740:Slc39a3'
ID 200297
Institutional Source Beutler Lab
Gene Symbol Slc39a3
Ensembl Gene ENSMUSG00000046822
Gene Name solute carrier family 39 (zinc transporter), member 3
Synonyms zip3
MMRRC Submission 039772-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R1740 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 80864374-80873169 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80867342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 135 (S135G)
Ref Sequence ENSEMBL: ENSMUSP00000128256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059551] [ENSMUST00000117276] [ENSMUST00000168076]
AlphaFold Q99K24
Predicted Effect probably damaging
Transcript: ENSMUST00000059551
AA Change: S135G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000057094
Gene: ENSMUSG00000046822
AA Change: S135G

DomainStartEndE-ValueType
Pfam:Zip 5 313 6.4e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117276
AA Change: S135G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113147
Gene: ENSMUSG00000046822
AA Change: S135G

DomainStartEndE-ValueType
Pfam:Zip 5 313 1.9e-53 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151873
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152177
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154877
Predicted Effect probably damaging
Transcript: ENSMUST00000168076
AA Change: S135G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128256
Gene: ENSMUSG00000046822
AA Change: S135G

DomainStartEndE-ValueType
Pfam:Zip 5 313 1.9e-53 PFAM
Meta Mutation Damage Score 0.0747 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.5%
  • 20x: 93.0%
Validation Efficiency 99% (69/70)
MGI Phenotype PHENOTYPE: Homozygous null mice stressed with a zinc-deficient diet during pregnancy or at weaning exhibit a subtle increase in the sensitivity to abnormal morphogenesis of the embryo and to depletion of thymic pre-T cells, respectively. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T A 7: 41,275,549 (GRCm39) C417* probably null Het
4930548G14Rik G A 15: 46,488,885 (GRCm39) noncoding transcript Het
Abcc12 T A 8: 87,232,126 (GRCm39) K1311* probably null Het
Abcc12 T C 8: 87,236,400 (GRCm39) D1138G possibly damaging Het
Adam32 A G 8: 25,411,314 (GRCm39) S116P probably damaging Het
Arhgef26 C T 3: 62,331,004 (GRCm39) L39F probably damaging Het
Babam1 T C 8: 71,855,663 (GRCm39) I252T probably damaging Het
Btf3 C T 13: 98,452,804 (GRCm39) M1I probably null Het
Ccdc61 G T 7: 18,637,862 (GRCm39) probably benign Het
Ccdc89 C T 7: 90,075,946 (GRCm39) S52F probably damaging Het
Cds2 T A 2: 132,144,133 (GRCm39) I320N possibly damaging Het
Cebpe T C 14: 54,949,399 (GRCm39) Y6C probably damaging Het
Cep250 T A 2: 155,815,276 (GRCm39) I598N probably damaging Het
Cep350 T A 1: 155,804,579 (GRCm39) I835F probably damaging Het
Ces3a T C 8: 105,775,317 (GRCm39) L22P probably damaging Het
Cfap221 T C 1: 119,873,558 (GRCm39) S490G probably benign Het
Cyp2j11 A G 4: 96,207,613 (GRCm39) V234A probably benign Het
Dgat1 T C 15: 76,386,929 (GRCm39) H399R probably damaging Het
Dnah10 A T 5: 124,850,254 (GRCm39) probably null Het
Ebpl T G 14: 61,578,656 (GRCm39) K193T probably benign Het
Entpd5 T C 12: 84,443,545 (GRCm39) N66S probably benign Het
Fcgbp G T 7: 27,800,674 (GRCm39) G1240V possibly damaging Het
Gabra5 A G 7: 57,071,590 (GRCm39) S209P probably benign Het
Glce A T 9: 61,977,815 (GRCm39) V23D probably damaging Het
Gm14226 GACTGTTAC GAC 2: 154,866,851 (GRCm39) probably benign Het
Gtf2h1 A G 7: 46,461,890 (GRCm39) N296S probably null Het
Herc6 T C 6: 57,629,050 (GRCm39) S654P probably benign Het
Kcnk3 A T 5: 30,779,321 (GRCm39) M124L possibly damaging Het
Lamb2 T G 9: 108,359,127 (GRCm39) V281G probably damaging Het
Lctl A T 9: 64,040,389 (GRCm39) D444V probably damaging Het
Mcm2 A G 6: 88,861,026 (GRCm39) F891L probably damaging Het
Mcub A T 3: 129,712,376 (GRCm39) H166Q probably benign Het
Mical2 G T 7: 111,933,043 (GRCm39) R739L probably benign Het
Mideas T C 12: 84,219,676 (GRCm39) E426G probably damaging Het
Mkrn2 G T 6: 115,590,330 (GRCm39) A229S probably damaging Het
Mmp7 A G 9: 7,695,278 (GRCm39) Y80C possibly damaging Het
Mpp2 T C 11: 101,953,222 (GRCm39) probably null Het
Msh6 C A 17: 88,293,150 (GRCm39) T635K possibly damaging Het
Mvd T A 8: 123,163,286 (GRCm39) T315S probably benign Het
Myocd C T 11: 65,109,347 (GRCm39) probably benign Het
Nav1 C T 1: 135,386,127 (GRCm39) probably null Het
Or4k48 T A 2: 111,476,214 (GRCm39) I43F probably damaging Het
Pde4b A T 4: 102,344,548 (GRCm39) D141V probably damaging Het
Pdgfrb A T 18: 61,214,905 (GRCm39) D978V possibly damaging Het
Prss55 T C 14: 64,313,129 (GRCm39) T252A probably damaging Het
Psd3 A T 8: 68,573,491 (GRCm39) V230E probably damaging Het
Ptk2 A G 15: 73,114,255 (GRCm39) V701A possibly damaging Het
Ptprn A G 1: 75,238,694 (GRCm39) V82A probably damaging Het
Ptpru G T 4: 131,520,989 (GRCm39) probably null Het
Raph1 T A 1: 60,558,183 (GRCm39) K258* probably null Het
Rnf25 A G 1: 74,637,886 (GRCm39) V28A probably damaging Het
Slc25a4 C T 8: 46,661,540 (GRCm39) V212M probably benign Het
Slco6d1 A G 1: 98,356,097 (GRCm39) I220M probably damaging Het
Smim19 G T 8: 22,963,544 (GRCm39) Y21* probably null Het
Speer4f1 A C 5: 17,683,759 (GRCm39) Y141S probably damaging Het
Srgap2 G A 1: 131,217,126 (GRCm39) P1062L probably benign Het
Stra8 A T 6: 34,904,654 (GRCm39) probably benign Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Tmem40 A G 6: 115,715,960 (GRCm39) S76P probably benign Het
Unc13b C T 4: 43,240,285 (GRCm39) R3569W probably damaging Het
Vmn1r128 A T 7: 21,083,869 (GRCm39) Q191L probably benign Het
Washc2 T A 6: 116,208,593 (GRCm39) probably benign Het
Other mutations in Slc39a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0398:Slc39a3 UTSW 10 80,869,621 (GRCm39) missense possibly damaging 0.94
R0681:Slc39a3 UTSW 10 80,869,565 (GRCm39) missense probably benign 0.01
R2360:Slc39a3 UTSW 10 80,867,104 (GRCm39) missense possibly damaging 0.89
R4967:Slc39a3 UTSW 10 80,867,453 (GRCm39) missense possibly damaging 0.63
R4973:Slc39a3 UTSW 10 80,866,796 (GRCm39) missense probably damaging 0.99
R8022:Slc39a3 UTSW 10 80,867,111 (GRCm39) missense probably benign 0.01
R9054:Slc39a3 UTSW 10 80,869,499 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCGAACACAGAGTGTGCAGACAGC -3'
(R):5'- GGATTAGAATCCTGCATCATCATGCCC -3'

Sequencing Primer
(F):5'- CGCGAAGACCAGGCTGAG -3'
(R):5'- tgcatcatcatgccctgctC -3'
Posted On 2014-05-23