Incidental Mutation 'R9054:Slc39a3'
ID 688577
Institutional Source Beutler Lab
Gene Symbol Slc39a3
Ensembl Gene ENSMUSG00000046822
Gene Name solute carrier family 39 (zinc transporter), member 3
Synonyms zip3
MMRRC Submission 068880-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.077) question?
Stock # R9054 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 80864374-80873169 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 80869499 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 53 (G53C)
Ref Sequence ENSEMBL: ENSMUSP00000057094 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059551] [ENSMUST00000117276] [ENSMUST00000168076]
AlphaFold Q99K24
Predicted Effect probably damaging
Transcript: ENSMUST00000059551
AA Change: G53C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057094
Gene: ENSMUSG00000046822
AA Change: G53C

DomainStartEndE-ValueType
Pfam:Zip 5 313 6.4e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117276
AA Change: G53C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113147
Gene: ENSMUSG00000046822
AA Change: G53C

DomainStartEndE-ValueType
Pfam:Zip 5 313 1.9e-53 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000168076
AA Change: G53C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128256
Gene: ENSMUSG00000046822
AA Change: G53C

DomainStartEndE-ValueType
Pfam:Zip 5 313 1.9e-53 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (51/52)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankef1 T A 2: 136,395,594 (GRCm39) D641E probably benign Het
Anln A G 9: 22,272,116 (GRCm39) probably null Het
Areg A T 5: 91,292,217 (GRCm39) E172D probably damaging Het
Ccdc51 A T 9: 108,918,482 (GRCm39) T24S probably benign Het
Cckar A T 5: 53,860,424 (GRCm39) I135N probably damaging Het
Cdca7 CGAGGAAGAGGAGGAGGAAGAGGAGGAGGAAGAGGA CGAGGAAGAGGAGGAGGAAGAGGA 2: 72,313,821 (GRCm39) probably benign Het
Cep295 T C 9: 15,235,551 (GRCm39) H2056R possibly damaging Het
Chrnb2 T C 3: 89,664,562 (GRCm39) K451E probably damaging Het
Ctnna2 C T 6: 76,919,249 (GRCm39) R663Q probably benign Het
Cyp4f37 A T 17: 32,853,253 (GRCm39) I406F probably benign Het
Eml4 T A 17: 83,734,640 (GRCm39) probably benign Het
Fkrp G T 7: 16,544,569 (GRCm39) T431K probably damaging Het
Fsip2 A T 2: 82,806,180 (GRCm39) Y833F possibly damaging Het
Galnt2 T C 8: 125,058,837 (GRCm39) probably null Het
Gm8180 T A 14: 44,019,806 (GRCm39) probably null Het
Hcn1 T C 13: 118,108,171 (GRCm39) S552P unknown Het
Ifit1 A C 19: 34,625,887 (GRCm39) E341A possibly damaging Het
Iyd A G 10: 3,490,250 (GRCm39) probably benign Het
Krt72 A T 15: 101,694,836 (GRCm39) S20T probably damaging Het
Lemd2 G T 17: 27,423,069 (GRCm39) D108E probably benign Het
Lipn A T 19: 34,054,376 (GRCm39) I205F possibly damaging Het
Nat1 G T 8: 67,943,723 (GRCm39) R36L probably benign Het
Nebl A T 2: 17,415,907 (GRCm39) M334K possibly damaging Het
Nectin4 A T 1: 171,214,351 (GRCm39) N502I probably damaging Het
Nrp1 G A 8: 129,214,389 (GRCm39) V626I probably benign Het
Oprm1 G A 10: 6,773,914 (GRCm39) probably benign Het
Or52w1 A G 7: 105,017,680 (GRCm39) Y49C probably damaging Het
Or8a1b C T 9: 37,623,204 (GRCm39) V124M probably damaging Het
Pde2a A G 7: 101,156,927 (GRCm39) Y637C probably damaging Het
Pde4d T C 13: 110,071,924 (GRCm39) V306A probably damaging Het
Pdzd9 G A 7: 120,269,498 (GRCm39) probably benign Het
Pitpnm3 T A 11: 71,947,017 (GRCm39) D810V probably damaging Het
Pkd1l3 A T 8: 110,392,304 (GRCm39) H1966L probably benign Het
Pmfbp1 C T 8: 110,247,661 (GRCm39) T319I possibly damaging Het
Pramel28 T C 4: 143,692,314 (GRCm39) Q229R probably benign Het
Prb1c G C 6: 132,338,856 (GRCm39) Q121E unknown Het
Psg18 T A 7: 18,087,450 (GRCm39) R69S possibly damaging Het
Ptprg A T 14: 12,213,638 (GRCm38) Q1002L possibly damaging Het
Ptprj T C 2: 90,290,984 (GRCm39) Y585C probably damaging Het
Rad51c T C 11: 87,293,542 (GRCm39) T105A probably benign Het
Rbm12 A T 2: 155,937,481 (GRCm39) D930E unknown Het
Rlf A C 4: 121,007,784 (GRCm39) S509A possibly damaging Het
Smchd1 G A 17: 71,670,017 (GRCm39) Q1685* probably null Het
Sprr2d A C 3: 92,247,715 (GRCm39) E52A unknown Het
Stat1 A G 1: 52,182,086 (GRCm39) N355S probably damaging Het
Tmem30b T C 12: 73,592,923 (GRCm39) E64G probably benign Het
Ttll11 A T 2: 35,869,392 (GRCm39) V82D probably benign Het
Ttn T A 2: 76,570,977 (GRCm39) T26639S probably damaging Het
Usp53 A T 3: 122,727,725 (GRCm39) N952K probably benign Het
Vmn1r199 T A 13: 22,567,724 (GRCm39) H339Q possibly damaging Het
Vps13b G A 15: 35,422,537 (GRCm39) D166N probably damaging Het
Zfp954 C A 7: 7,119,097 (GRCm39) C149F 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
R1740:Slc39a3 UTSW 10 80,867,342 (GRCm39) missense probably damaging 0.98
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
Predicted Primers PCR Primer
(F):5'- TGTGTTGGAATCCACGGGAG -3'
(R):5'- GACTCCATTTGTGCTTTGGC -3'

Sequencing Primer
(F):5'- GCTTTGCTGTAACCCCAGAAC -3'
(R):5'- GCTTTGGCCCTGTGTGACC -3'
Posted On 2021-11-19