Incidental Mutation 'IGL02558:Slc39a4'
ID 298392
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc39a4
Ensembl Gene ENSMUSG00000063354
Gene Name solute carrier family 39 (zinc transporter), member 4
Synonyms AWMS2, 1600025H15Rik, zip4
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02558
Quality Score
Status
Chromosome 15
Chromosomal Location 76496583-76501579 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 76498403 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Methionine at position 345 (L345M)
Ref Sequence ENSEMBL: ENSMUSP00000073134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073428] [ENSMUST00000230977]
AlphaFold Q78IQ7
Predicted Effect probably damaging
Transcript: ENSMUST00000073428
AA Change: L345M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000073134
Gene: ENSMUSG00000063354
AA Change: L345M

DomainStartEndE-ValueType
low complexity region 6 22 N/A INTRINSIC
low complexity region 27 38 N/A INTRINSIC
low complexity region 238 253 N/A INTRINSIC
Pfam:Zip 335 652 3.5e-65 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229613
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230317
Predicted Effect probably damaging
Transcript: ENSMUST00000230977
AA Change: L345M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
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 zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. Mutations in this gene result in acrodermatitis enteropathica. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic letahlity around E10. Mice heterozygous for a null allele exhibit developmental defects similar to the teratology of zinc deficiency. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A C 5: 3,632,194 (GRCm39) *25C probably null Het
Abca13 T C 11: 9,349,387 (GRCm39) Y3654H probably damaging Het
Ankle1 T C 8: 71,861,636 (GRCm39) F438S probably damaging Het
Atp10a A T 7: 58,469,390 (GRCm39) R1080S probably damaging Het
Ccdc51 A T 9: 108,921,252 (GRCm39) N380Y probably damaging Het
Ccr8 A T 9: 119,923,724 (GRCm39) I280F probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cep162 T C 9: 87,107,786 (GRCm39) T535A probably benign Het
Cep162 G T 9: 87,107,779 (GRCm39) T537N probably benign Het
Cfap52 T C 11: 67,844,964 (GRCm39) D35G probably benign Het
Cmip G A 8: 118,175,827 (GRCm39) S530N probably damaging Het
Col9a3 A T 2: 180,248,599 (GRCm39) probably null Het
Csf3r T C 4: 125,931,928 (GRCm39) probably benign Het
Csk C T 9: 57,537,546 (GRCm39) E123K probably benign Het
Csrnp3 G A 2: 65,852,573 (GRCm39) E322K probably damaging Het
Ddx11 A T 17: 66,455,667 (GRCm39) I663F probably damaging Het
Dnah1 T A 14: 30,996,336 (GRCm39) M2667L possibly damaging Het
Foxred1 T C 9: 35,121,429 (GRCm39) K40E probably damaging Het
Gata2 C T 6: 88,176,762 (GRCm39) P74S probably benign Het
Gdf10 T G 14: 33,645,937 (GRCm39) C29G probably benign Het
Hectd4 A G 5: 121,482,848 (GRCm39) E3133G probably benign Het
Ints8 G A 4: 11,218,771 (GRCm39) R784W probably damaging Het
Lrriq1 T C 10: 102,982,144 (GRCm39) E1392G probably damaging Het
Muc19 T C 15: 91,781,816 (GRCm39) noncoding transcript Het
Myom2 A T 8: 15,164,237 (GRCm39) D1044V probably benign Het
Nphp4 G T 4: 152,639,988 (GRCm39) R958L probably damaging Het
Nup205 C T 6: 35,166,859 (GRCm39) P293S probably damaging Het
Or10ag60 T C 2: 87,437,903 (GRCm39) I57T probably benign Het
Or1e17 A T 11: 73,831,651 (GRCm39) H193L probably benign Het
Plxdc2 A G 2: 16,674,409 (GRCm39) probably benign Het
Pwp2 T C 10: 78,014,899 (GRCm39) S362G probably damaging Het
Siglec1 G T 2: 130,916,915 (GRCm39) S1113R possibly damaging Het
Sirpa A G 2: 129,471,989 (GRCm39) E472G probably damaging Het
Snx27 C T 3: 94,410,188 (GRCm39) R496Q probably damaging Het
Stard9 A G 2: 120,527,388 (GRCm39) H1215R possibly damaging Het
Stau1 A G 2: 166,792,768 (GRCm39) Y371H probably benign Het
Sult2a1 A C 7: 13,566,520 (GRCm39) W152G probably benign Het
Syt16 A T 12: 74,281,832 (GRCm39) K319* probably null Het
Tcf7 T A 11: 52,144,797 (GRCm39) probably benign Het
Tfdp1 A G 8: 13,419,546 (GRCm39) N92D possibly damaging Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Other mutations in Slc39a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02597:Slc39a4 APN 15 76,497,824 (GRCm39) missense probably benign
IGL02798:Slc39a4 APN 15 76,499,382 (GRCm39) missense probably benign 0.04
texline UTSW 15 76,498,283 (GRCm39) missense probably damaging 1.00
R0519:Slc39a4 UTSW 15 76,499,338 (GRCm39) missense probably benign 0.38
R0815:Slc39a4 UTSW 15 76,496,839 (GRCm39) missense probably damaging 1.00
R1502:Slc39a4 UTSW 15 76,500,793 (GRCm39) missense probably benign 0.00
R1547:Slc39a4 UTSW 15 76,498,347 (GRCm39) nonsense probably null
R2919:Slc39a4 UTSW 15 76,500,870 (GRCm39) missense probably damaging 1.00
R4634:Slc39a4 UTSW 15 76,498,693 (GRCm39) missense probably benign
R5029:Slc39a4 UTSW 15 76,498,283 (GRCm39) missense probably damaging 1.00
R5030:Slc39a4 UTSW 15 76,498,283 (GRCm39) missense probably damaging 1.00
R5669:Slc39a4 UTSW 15 76,498,363 (GRCm39) missense probably damaging 1.00
R6020:Slc39a4 UTSW 15 76,500,342 (GRCm39) missense probably benign 0.03
R6741:Slc39a4 UTSW 15 76,498,283 (GRCm39) missense probably damaging 1.00
R6920:Slc39a4 UTSW 15 76,497,470 (GRCm39) missense probably damaging 0.99
R7072:Slc39a4 UTSW 15 76,497,458 (GRCm39) missense probably damaging 1.00
R7920:Slc39a4 UTSW 15 76,498,285 (GRCm39) missense probably damaging 1.00
R9217:Slc39a4 UTSW 15 76,498,126 (GRCm39) missense possibly damaging 0.60
R9300:Slc39a4 UTSW 15 76,498,759 (GRCm39) missense probably damaging 1.00
R9619:Slc39a4 UTSW 15 76,497,874 (GRCm39) missense probably damaging 1.00
R9720:Slc39a4 UTSW 15 76,500,930 (GRCm39) missense probably benign 0.00
R9722:Slc39a4 UTSW 15 76,500,211 (GRCm39) missense possibly damaging 0.85
RF035:Slc39a4 UTSW 15 76,499,066 (GRCm39) small insertion probably benign
RF039:Slc39a4 UTSW 15 76,499,071 (GRCm39) small insertion probably benign
RF039:Slc39a4 UTSW 15 76,499,070 (GRCm39) small insertion probably benign
RF040:Slc39a4 UTSW 15 76,499,066 (GRCm39) small insertion probably benign
RF041:Slc39a4 UTSW 15 76,499,066 (GRCm39) small insertion probably benign
RF042:Slc39a4 UTSW 15 76,499,071 (GRCm39) small insertion probably benign
RF043:Slc39a4 UTSW 15 76,499,070 (GRCm39) small insertion probably benign
RF044:Slc39a4 UTSW 15 76,499,070 (GRCm39) small insertion probably benign
Z1176:Slc39a4 UTSW 15 76,498,373 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16