Incidental Mutation 'R2919:Slc39a4'
ID 255447
Institutional Source Beutler Lab
Gene Symbol Slc39a4
Ensembl Gene ENSMUSG00000063354
Gene Name solute carrier family 39 (zinc transporter), member 4
Synonyms AWMS2, 1600025H15Rik, zip4
MMRRC Submission 040504-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2919 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 76496583-76501579 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76500870 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 31 (L31P)
Ref Sequence ENSEMBL: ENSMUSP00000155442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073428] [ENSMUST00000230977]
AlphaFold Q78IQ7
Predicted Effect probably damaging
Transcript: ENSMUST00000073428
AA Change: L31P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000073134
Gene: ENSMUSG00000063354
AA Change: L31P

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: L31P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.5737 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 98% (53/54)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik C T 5: 146,122,001 (GRCm39) R27H probably benign Het
2310002L09Rik A T 4: 73,868,845 (GRCm39) L31Q probably damaging Het
Agbl1 G A 7: 76,064,406 (GRCm39) D53N probably damaging Het
Aloxe3 C T 11: 69,033,749 (GRCm39) T621I probably damaging Het
Als2cl A T 9: 110,726,567 (GRCm39) probably null Het
Atg9b T A 5: 24,596,542 (GRCm39) T125S possibly damaging Het
Casp8ap2 A G 4: 32,645,343 (GRCm39) D1472G probably damaging Het
Cd1d2 C G 3: 86,894,987 (GRCm39) P158A probably damaging Het
Cdc45 A G 16: 18,627,543 (GRCm39) I94T probably benign Het
Chd6 T G 2: 160,809,800 (GRCm39) D1487A possibly damaging Het
Edem2 T C 2: 155,550,947 (GRCm39) Y340C probably damaging Het
Fbxl12 C T 9: 20,553,509 (GRCm39) R26H probably damaging Het
Fgfr3 A G 5: 33,891,284 (GRCm39) N516S probably damaging Het
Gm5884 A G 6: 128,622,021 (GRCm39) noncoding transcript Het
Hdac1-ps A G 17: 78,800,275 (GRCm39) D422G probably damaging Het
Inpp4b C A 8: 82,711,958 (GRCm39) A425E possibly damaging Het
Kif1a A G 1: 92,974,464 (GRCm39) Y964H probably damaging Het
Lrp1b A C 2: 41,660,911 (GRCm39) C66G probably damaging Het
Lrp4 A G 2: 91,321,075 (GRCm39) I1034V probably benign Het
Meak7 G A 8: 120,495,056 (GRCm39) A234V probably benign Het
Mmrn2 T C 14: 34,124,879 (GRCm39) V820A possibly damaging Het
Mphosph9 G A 5: 124,399,069 (GRCm39) T982I probably benign Het
Mroh9 A C 1: 162,884,341 (GRCm39) M399R probably damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
N4bp2 G A 5: 65,964,441 (GRCm39) G830D probably benign Het
Nagpa G A 16: 5,021,651 (GRCm39) probably benign Het
Or52b1 C T 7: 104,979,067 (GRCm39) V111M probably damaging Het
Or5g23 G A 2: 85,438,754 (GRCm39) P167S probably benign Het
Oxgr1 T A 14: 120,260,221 (GRCm39) probably benign Het
Parp3 T A 9: 106,350,924 (GRCm39) R323W possibly damaging Het
Pfkfb3 C T 2: 11,489,138 (GRCm39) V286I probably benign Het
Pfkp C T 13: 6,643,279 (GRCm39) G513D probably damaging Het
Pla2g4d T C 2: 120,112,108 (GRCm39) probably benign Het
Rtl1 T C 12: 109,557,582 (GRCm39) E1419G unknown Het
Sdf2 G C 11: 78,145,680 (GRCm39) V126L probably damaging Het
Sgk2 T G 2: 162,841,115 (GRCm39) L175R probably damaging Het
Sgk2 C A 2: 162,841,125 (GRCm39) F178L probably damaging Het
Sim1 T C 10: 50,785,911 (GRCm39) Y255H probably benign Het
Slc13a5 T C 11: 72,138,617 (GRCm39) E442G possibly damaging Het
Slc38a3 A T 9: 107,534,886 (GRCm39) I163N probably damaging Het
Slc5a11 GGTGC G 7: 122,838,595 (GRCm39) probably null Het
Slfnl1 G T 4: 120,390,275 (GRCm39) probably benign Het
Stradb G A 1: 59,031,828 (GRCm39) V247M probably benign Het
Styk1 T A 6: 131,289,967 (GRCm39) probably benign Het
Sult1d1 A G 5: 87,707,614 (GRCm39) probably benign Het
Syk C T 13: 52,765,157 (GRCm39) P95S probably benign Het
Taar2 T A 10: 23,817,454 (GRCm39) N331K probably benign Het
Thsd7b A G 1: 130,117,587 (GRCm39) probably benign Het
Tmbim7 G A 5: 3,723,188 (GRCm39) probably null Het
Tmem107 T C 11: 68,962,247 (GRCm39) L68P probably damaging Het
Tmem184c A T 8: 78,331,276 (GRCm39) C158S probably damaging Het
Tmpo A G 10: 90,988,548 (GRCm39) I310T probably benign Het
Ugt2b5 A G 5: 87,273,266 (GRCm39) F467L possibly damaging Het
Xirp1 T C 9: 119,847,767 (GRCm39) E372G possibly damaging Het
Zbtb5 T C 4: 44,994,790 (GRCm39) E198G probably damaging Het
Zfp804a A G 2: 82,066,160 (GRCm39) N44D probably damaging Het
Other mutations in Slc39a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02558:Slc39a4 APN 15 76,498,403 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- AGATCTCTTTAGTGCCTGCCAC -3'
(R):5'- AATATCTGGGAGAGGTCTTGGAGC -3'

Sequencing Primer
(F):5'- CACAGGGTGGAGCGGGC -3'
(R):5'- AGTTGAACCCAGCTCCAGTCTG -3'
Posted On 2014-12-29