Incidental Mutation 'R5558:Slc30a4'
ID 436382
Institutional Source Beutler Lab
Gene Symbol Slc30a4
Ensembl Gene ENSMUSG00000005802
Gene Name solute carrier family 30 (zinc transporter), member 4
Synonyms Znt4
MMRRC Submission 043115-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5558 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 122523153-122544583 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 122528903 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 324 (I324T)
Ref Sequence ENSEMBL: ENSMUSP00000005952 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005952] [ENSMUST00000099457]
AlphaFold O35149
Predicted Effect probably damaging
Transcript: ENSMUST00000005952
AA Change: I324T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005952
Gene: ENSMUSG00000005802
AA Change: I324T

low complexity region 67 83 N/A INTRINSIC
Pfam:Cation_efflux 114 333 1.3e-55 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000099457
AA Change: I275T

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000097056
Gene: ENSMUSG00000005802
AA Change: I275T

low complexity region 67 83 N/A INTRINSIC
Pfam:Cation_efflux 124 368 4.6e-46 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc is the second most abundant trace metal in the human body. It is an essential element, serving both a structural role, as in the formation of zinc fingers in DNA-binding proteins, and a catalytic role in metalloenzymes, such as pancreatic carboxypeptidases (e.g., MIM 114852), alkaline phosphatases (e.g., MIM 171760), various dehydrogenases, and superoxide dismutases (e.g., MIM 147450). SLC30A4, or ZNT4, belongs to the ZNT family of zinc transporters. ZNTs are involved in transporting zinc out of the cytoplasm and have similar structures, consisting of 6 transmembrane domains and a histidine-rich cytoplasmic loop (Huang and Gitschier, 1997 [PubMed 9354792]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutant dams produce zinc-deficient milk that is lethal to all nursing pups. Pleiotropic defects observed in mutant males and females include otolith degeneration, impaired motor coordination, alopecia, and dermatitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 T C 9: 44,192,705 (GRCm39) K177E probably damaging Het
Acvr1 T C 2: 58,349,029 (GRCm39) T378A probably damaging Het
Agtpbp1 A G 13: 59,630,394 (GRCm39) V779A probably benign Het
Alms1 C T 6: 85,618,311 (GRCm39) Q2786* probably null Het
Arhgef28 A C 13: 98,097,968 (GRCm39) L882R probably damaging Het
Cbx2 A G 11: 118,919,775 (GRCm39) T447A probably benign Het
Ch25h A G 19: 34,451,863 (GRCm39) W222R probably damaging Het
Chsy3 T G 18: 59,309,469 (GRCm39) S241A probably damaging Het
Cyfip1 T C 7: 55,541,749 (GRCm39) S345P possibly damaging Het
Cyp4a30b C A 4: 115,316,063 (GRCm39) D291E probably damaging Het
Dcstamp A G 15: 39,622,936 (GRCm39) Y419C probably damaging Het
Eif3d G A 15: 77,846,047 (GRCm39) R359C probably damaging Het
Elavl4 C A 4: 110,063,800 (GRCm39) G267V probably benign Het
Gars1 T C 6: 55,042,592 (GRCm39) S442P probably damaging Het
Gas6 C T 8: 13,516,764 (GRCm39) R578Q probably null Het
H4c4 C A 13: 23,765,779 (GRCm39) N65K possibly damaging Het
Ifitm6 T C 7: 140,595,985 (GRCm39) I103V probably benign Het
Igsf5 T A 16: 96,187,731 (GRCm39) I241N possibly damaging Het
Iqce A G 5: 140,657,560 (GRCm39) probably null Het
Khdc4 A C 3: 88,600,403 (GRCm39) H164P probably damaging Het
Kif20b C A 19: 34,928,949 (GRCm39) Q1192K probably damaging Het
Lap3 A G 5: 45,662,093 (GRCm39) N298D probably benign Het
Lca5 A T 9: 83,283,796 (GRCm39) S246T probably damaging Het
Mrps5 G A 2: 127,444,355 (GRCm39) G330S probably damaging Het
Myh15 C T 16: 48,889,900 (GRCm39) R164C probably benign Het
Myo19 C G 11: 84,801,274 (GRCm39) P940R probably damaging Het
Or10j7 T C 1: 173,011,585 (GRCm39) R139G probably benign Het
Or5b12b T C 19: 12,861,751 (GRCm39) F169L probably benign Het
Pcdh10 A G 3: 45,338,603 (GRCm39) D920G probably damaging Het
Pgm5 A T 19: 24,801,815 (GRCm39) probably null Het
Phactr4 T C 4: 132,105,766 (GRCm39) E137G probably damaging Het
Pkn1 C T 8: 84,411,351 (GRCm39) V239M probably damaging Het
Plcz1 T A 6: 139,985,481 (GRCm39) D20V probably damaging Het
Prkca A T 11: 107,872,473 (GRCm39) I429N probably damaging Het
Ptk2 A T 15: 73,176,294 (GRCm39) Y251N probably damaging Het
R3hdm2 T C 10: 127,280,271 (GRCm39) F31S probably damaging Het
Rab11fip1 T A 8: 27,642,003 (GRCm39) E932V probably damaging Het
Rilp A G 11: 75,402,251 (GRCm39) Y250C probably damaging Het
Sclt1 A G 3: 41,616,025 (GRCm39) I474T probably benign Het
Slc14a2 T A 18: 78,202,381 (GRCm39) D583V possibly damaging Het
Slc6a5 G A 7: 49,577,321 (GRCm39) V326I probably benign Het
Slco1c1 C T 6: 141,513,222 (GRCm39) T617I probably damaging Het
Sntg1 A G 1: 8,484,495 (GRCm39) S442P possibly damaging Het
Sys1 G T 2: 164,306,429 (GRCm39) A128S possibly damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tmed5 A G 5: 108,272,462 (GRCm39) I212T probably benign Het
Tnks T C 8: 35,432,819 (GRCm39) M1V probably null Het
Trpa1 T C 1: 14,968,492 (GRCm39) H452R probably damaging Het
Trpm3 T C 19: 22,955,937 (GRCm39) V1133A probably damaging Het
Ttn T A 2: 76,555,395 (GRCm39) I30537F probably damaging Het
Ush2a T C 1: 188,530,024 (GRCm39) V3271A possibly damaging Het
Utp20 C G 10: 88,587,329 (GRCm39) G2489R probably damaging Het
Vmn1r70 A T 7: 10,368,402 (GRCm39) S278C probably benign Het
Wdpcp G A 11: 21,661,732 (GRCm39) A335T probably benign Het
Zc3h18 G T 8: 123,113,659 (GRCm39) R217L probably damaging Het
Zfp955b C T 17: 33,521,161 (GRCm39) T210I possibly damaging Het
Other mutations in Slc30a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01524:Slc30a4 APN 2 122,544,308 (GRCm39) missense possibly damaging 0.87
IGL01583:Slc30a4 APN 2 122,527,137 (GRCm39) missense probably benign
IGL01823:Slc30a4 APN 2 122,544,012 (GRCm39) missense probably damaging 1.00
IGL02086:Slc30a4 APN 2 122,543,947 (GRCm39) splice site probably benign
F5770:Slc30a4 UTSW 2 122,531,458 (GRCm39) missense probably benign 0.00
R0060:Slc30a4 UTSW 2 122,527,104 (GRCm39) missense probably benign
R0060:Slc30a4 UTSW 2 122,527,104 (GRCm39) missense probably benign
R0373:Slc30a4 UTSW 2 122,531,319 (GRCm39) missense probably damaging 0.99
R0591:Slc30a4 UTSW 2 122,527,160 (GRCm39) missense probably damaging 1.00
R1514:Slc30a4 UTSW 2 122,531,334 (GRCm39) missense probably damaging 1.00
R1552:Slc30a4 UTSW 2 122,527,936 (GRCm39) missense probably benign 0.05
R3847:Slc30a4 UTSW 2 122,544,192 (GRCm39) missense probably damaging 1.00
R4195:Slc30a4 UTSW 2 122,527,190 (GRCm39) missense probably damaging 1.00
R4501:Slc30a4 UTSW 2 122,527,136 (GRCm39) missense probably benign
R6379:Slc30a4 UTSW 2 122,531,469 (GRCm39) missense probably damaging 1.00
R6393:Slc30a4 UTSW 2 122,527,966 (GRCm39) missense probably damaging 1.00
R7394:Slc30a4 UTSW 2 122,527,224 (GRCm39) missense possibly damaging 0.93
R9464:Slc30a4 UTSW 2 122,527,200 (GRCm39) missense probably damaging 1.00
R9765:Slc30a4 UTSW 2 122,536,456 (GRCm39) missense probably damaging 1.00
V7580:Slc30a4 UTSW 2 122,531,458 (GRCm39) missense probably benign 0.00
V7581:Slc30a4 UTSW 2 122,531,458 (GRCm39) missense probably benign 0.00
V7582:Slc30a4 UTSW 2 122,531,458 (GRCm39) missense probably benign 0.00
V7583:Slc30a4 UTSW 2 122,531,458 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-10-24