Incidental Mutation 'IGL02573:Slc30a7'
ID 299120
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc30a7
Ensembl Gene ENSMUSG00000054414
Gene Name solute carrier family 30 (zinc transporter), member 7
Synonyms 2610034N15Rik, 4833428C12Rik, 1810059J10Rik, ZnT-7, ZnT7
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.783) question?
Stock # IGL02573
Quality Score
Status
Chromosome 3
Chromosomal Location 115938973-116007406 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 115990147 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000065254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067485]
AlphaFold Q9JKN1
Predicted Effect probably benign
Transcript: ENSMUST00000067485
SMART Domains Protein: ENSMUSP00000065254
Gene: ENSMUSG00000054414

DomainStartEndE-ValueType
Pfam:Cation_efflux 38 296 3.3e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197333
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197847
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc functions as a cofactor for numerous enzymes, nuclear factors, and hormones and as an intra- and intercellular signal ion. Members of the zinc transporter (ZNT)/SLC30 subfamily of the cation diffusion facilitator family, such as SLC30A7, permit cellular efflux of zinc (Seve et al., 2004 [PubMed 15154973]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit a low body zinc status, reduced food intake and poor body weight gain, and are lean due to a significant reduction in body fat accumulation; however, no signs of hair growth abnormalities or dermatitis are observed. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl3 T A 4: 99,037,934 W434R probably damaging Het
Atp7b T C 8: 22,022,470 Q344R probably benign Het
B4galt5 C T 2: 167,305,062 R284Q probably benign Het
Ccdc80 T G 16: 45,095,589 V236G probably damaging Het
Chd8 T C 14: 52,219,734 I926V possibly damaging Het
Dgkz A C 2: 91,934,197 S1030R probably damaging Het
Disp3 T A 4: 148,271,449 D318V probably damaging Het
Ehd1 T C 19: 6,294,300 S197P probably damaging Het
Emp1 A G 6: 135,379,947 K42R probably benign Het
Fam71a G A 1: 191,163,870 T192I probably damaging Het
Gm4922 T A 10: 18,783,675 D433V probably benign Het
Gsdma T C 11: 98,670,751 probably benign Het
Hspbp1 G T 7: 4,677,853 A208E probably damaging Het
Il5ra A T 6: 106,716,751 V342E possibly damaging Het
Kif13b T C 14: 64,803,431 F1660S probably damaging Het
Lvrn A G 18: 46,876,949 E388G probably damaging Het
Mettl17 G A 14: 51,888,047 probably null Het
Mgat5b T C 11: 116,977,714 Y488H probably benign Het
Mtr A T 13: 12,199,127 D886E possibly damaging Het
Naip6 A T 13: 100,299,471 L848* probably null Het
Nav3 A G 10: 109,866,974 S233P probably benign Het
Nme9 A T 9: 99,470,855 D286V probably benign Het
Nod1 C A 6: 54,943,945 A463S probably benign Het
Nthl1 A G 17: 24,633,975 K51R probably benign Het
Olfr354 A G 2: 36,907,554 I203V probably damaging Het
Olfr427 T A 1: 174,100,130 V224D possibly damaging Het
Pcnx2 G A 8: 125,855,273 A908V probably benign Het
Pdcd6 A G 13: 74,303,979 Y181H probably damaging Het
Pde10a A C 17: 8,961,890 I719L probably benign Het
Pikfyve T A 1: 65,230,855 probably null Het
Plekha5 G T 6: 140,582,016 A396S probably damaging Het
Ppfia2 A G 10: 106,828,928 T342A probably damaging Het
Rbck1 A G 2: 152,322,167 I339T possibly damaging Het
Rbms2 A T 10: 128,143,440 I140N probably damaging Het
Scn1b A T 7: 31,123,121 L78Q possibly damaging Het
Slc12a6 T C 2: 112,358,641 probably null Het
Slc25a30 A T 14: 75,769,668 probably benign Het
Slc5a10 C A 11: 61,673,072 R546L possibly damaging Het
Stxbp4 T C 11: 90,540,269 D405G probably damaging Het
Tm4sf19 A C 16: 32,407,860 T156P possibly damaging Het
Tmem37 A T 1: 120,067,989 D119E probably damaging Het
Tor1aip1 T A 1: 156,013,371 N113I probably damaging Het
Ubac2 T A 14: 121,907,390 Y87N possibly damaging Het
Usp29 A T 7: 6,962,618 probably null Het
Wdr92 T C 11: 17,212,136 L58P possibly damaging Het
Zfp276 A G 8: 123,264,997 E428G probably damaging Het
Other mutations in Slc30a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:Slc30a7 APN 3 115946720 splice site probably null
IGL01161:Slc30a7 APN 3 115954110 missense possibly damaging 0.54
IGL01360:Slc30a7 APN 3 115990116 missense probably damaging 1.00
R0833:Slc30a7 UTSW 3 115990140 critical splice acceptor site probably null
R0836:Slc30a7 UTSW 3 115990140 critical splice acceptor site probably null
R1381:Slc30a7 UTSW 3 115956870 critical splice donor site probably null
R2445:Slc30a7 UTSW 3 115978653 missense probably damaging 1.00
R4072:Slc30a7 UTSW 3 115946680 missense probably damaging 0.96
R4850:Slc30a7 UTSW 3 115993008 missense probably damaging 0.99
R5429:Slc30a7 UTSW 3 116006925 missense possibly damaging 0.90
R5586:Slc30a7 UTSW 3 115990051 missense probably benign 0.36
R6170:Slc30a7 UTSW 3 115990743 missense probably damaging 1.00
R6813:Slc30a7 UTSW 3 115981811 missense probably benign 0.01
R6889:Slc30a7 UTSW 3 115954153 missense probably damaging 1.00
R8445:Slc30a7 UTSW 3 116007346 unclassified probably benign
R8872:Slc30a7 UTSW 3 115946668 missense possibly damaging 0.69
X0023:Slc30a7 UTSW 3 115990025 missense probably damaging 0.98
Posted On 2015-04-16