Incidental Mutation 'R0060:Slc30a4'
ID 64387
Institutional Source Beutler Lab
Gene Symbol Slc30a4
Ensembl Gene ENSMUSG00000005802
Gene Name solute carrier family 30 (zinc transporter), member 4
Synonyms Znt4
MMRRC Submission 038353-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0060 (G1)
Quality Score 114
Status Not validated
Chromosome 2
Chromosomal Location 122523153-122544583 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 122527104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 381 (T381S)
Ref Sequence ENSEMBL: ENSMUSP00000097056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005952] [ENSMUST00000099457]
AlphaFold O35149
Predicted Effect probably benign
Transcript: ENSMUST00000005952
AA Change: T430S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000005952
Gene: ENSMUSG00000005802
AA Change: T430S

low complexity region 67 83 N/A INTRINSIC
Pfam:Cation_efflux 114 333 1.3e-55 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000099457
AA Change: T381S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000097056
Gene: ENSMUSG00000005802
AA Change: T381S

low complexity region 67 83 N/A INTRINSIC
Pfam:Cation_efflux 124 368 4.6e-46 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.0%
Validation Efficiency 98% (60/61)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik A C 11: 58,313,008 (GRCm39) probably benign Het
A630091E08Rik A G 7: 98,192,875 (GRCm39) noncoding transcript Het
Abca8a T C 11: 109,961,306 (GRCm39) T539A probably damaging Het
Ankrd60 A T 2: 173,414,406 (GRCm39) M1K probably null Het
Arnt2 G A 7: 83,996,738 (GRCm39) R63C probably damaging Het
Cabcoco1 A T 10: 68,369,692 (GRCm39) probably null Het
Capn7 T C 14: 31,087,561 (GRCm39) probably benign Het
Cd109 G A 9: 78,610,389 (GRCm39) E1145K probably damaging Het
Celsr1 A T 15: 85,806,399 (GRCm39) V2353D probably damaging Het
Cep350 C T 1: 155,804,372 (GRCm39) D904N probably damaging Het
Chl1 T A 6: 103,688,019 (GRCm39) probably benign Het
Colec10 G A 15: 54,302,542 (GRCm39) probably benign Het
Cst11 T A 2: 148,612,322 (GRCm39) Q105L probably damaging Het
Eps8l3 T C 3: 107,786,857 (GRCm39) L11S probably damaging Het
Gsdme A G 6: 50,198,009 (GRCm39) I317T possibly damaging Het
Itgad T C 7: 127,802,158 (GRCm39) S979P probably damaging Het
Mga T C 2: 119,791,442 (GRCm39) probably null Het
Nubpl T C 12: 52,357,470 (GRCm39) probably benign Het
Or2b4 T C 17: 38,116,891 (GRCm39) L285P probably damaging Het
Or5be3 T C 2: 86,864,118 (GRCm39) Y149C probably damaging Het
Pard3b G A 1: 61,678,474 (GRCm39) E25K probably damaging Het
Phactr1 T A 13: 42,836,197 (GRCm39) Y8* probably null Het
Phf14 T C 6: 11,953,316 (GRCm39) S352P probably damaging Het
Ppp1r16a C T 15: 76,574,999 (GRCm39) probably benign Het
Prap1 G T 7: 139,673,390 (GRCm39) probably benign Het
Prdm8 T A 5: 98,333,119 (GRCm39) F229I probably benign Het
Rfx6 T C 10: 51,553,936 (GRCm39) F11L probably benign Het
Rfx8 T A 1: 39,757,565 (GRCm39) probably benign Het
Rif1 C T 2: 52,001,129 (GRCm39) R1528C probably damaging Het
Ripk4 G A 16: 97,564,718 (GRCm39) probably benign Het
Satb1 T A 17: 52,047,231 (GRCm39) I695F probably damaging Het
Sema4d A G 13: 51,859,293 (GRCm39) probably benign Het
Suv39h2 T C 2: 3,465,953 (GRCm39) Y134C probably damaging Het
Tcerg1 C T 18: 42,657,073 (GRCm39) A185V unknown Het
Tep1 T A 14: 51,103,486 (GRCm39) D268V probably damaging Het
Tmem89 T A 9: 108,744,485 (GRCm39) V126D probably damaging Het
Trf T C 9: 103,098,121 (GRCm39) T46A probably benign Het
Trmt6 C T 2: 132,648,689 (GRCm39) R415Q possibly damaging Het
Trp53bp1 T C 2: 121,035,006 (GRCm39) K1625E probably damaging Het
Zcchc4 T A 5: 52,964,420 (GRCm39) I292N 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
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
R5558:Slc30a4 UTSW 2 122,528,903 (GRCm39) missense probably damaging 1.00
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 2013-08-06