Incidental Mutation 'IGL00561:Slc30a7'
ID 14083
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 # IGL00561
Quality Score
Status
Chromosome 3
Chromosomal Location 115938973-116007406 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 115946720 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000065254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067485] [ENSMUST00000067485] [ENSMUST00000067485]
AlphaFold Q9JKN1
Predicted Effect probably null
Transcript: ENSMUST00000067485
SMART Domains Protein: ENSMUSP00000065254
Gene: ENSMUSG00000054414

DomainStartEndE-ValueType
Pfam:Cation_efflux 38 296 3.3e-46 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000067485
SMART Domains Protein: ENSMUSP00000065254
Gene: ENSMUSG00000054414

DomainStartEndE-ValueType
Pfam:Cation_efflux 38 296 3.3e-46 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000067485
SMART Domains Protein: ENSMUSP00000065254
Gene: ENSMUSG00000054414

DomainStartEndE-ValueType
Pfam:Cation_efflux 38 296 3.3e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198571
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199485
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199743
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik T A 4: 73,942,719 T215S possibly damaging Het
9130019O22Rik T A 7: 127,386,544 probably benign Het
Bcl6b T C 11: 70,228,484 probably benign Het
C8a G A 4: 104,865,445 probably benign Het
Cep152 G A 2: 125,563,723 Q1630* probably null Het
Dnah6 T C 6: 73,195,620 N285S possibly damaging Het
Elovl5 G A 9: 77,960,974 R56Q probably benign Het
Fcf1 T C 12: 84,973,061 V36A probably benign Het
Gdf3 A G 6: 122,607,126 L94P probably damaging Het
Kcnt2 A T 1: 140,523,098 H705L probably damaging Het
Ly75 A T 2: 60,376,077 C83S probably damaging Het
Med12l T A 3: 59,227,824 S798T probably benign Het
Morc3 G T 16: 93,873,395 probably null Het
Neb A T 2: 52,206,105 N1049K probably benign Het
Nlrp6 A G 7: 140,923,124 D381G probably damaging Het
Pcnx A T 12: 81,996,053 D2303V probably damaging Het
Prss45 A T 9: 110,840,510 N227I probably damaging Het
Rbbp6 G A 7: 122,971,063 M34I probably damaging Het
Smpdl3a T C 10: 57,807,946 Y267H probably benign Het
Snw1 A G 12: 87,450,804 probably null Het
Sp140 G A 1: 85,621,672 R208K probably benign Het
Tbx19 A G 1: 165,160,399 V55A probably benign Het
Tmem131 A G 1: 36,811,427 S1059P probably damaging Het
Tpo G A 12: 30,084,620 P780S probably damaging Het
Ttn G A 2: 76,739,711 T26946M probably damaging Het
Vps33b A G 7: 80,285,843 E372G probably damaging Het
Vwf T C 6: 125,642,721 V1454A possibly damaging Het
Zbbx C T 3: 75,061,532 probably null Het
Other mutations in Slc30a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01161:Slc30a7 APN 3 115954110 missense possibly damaging 0.54
IGL01360:Slc30a7 APN 3 115990116 missense probably damaging 1.00
IGL02573:Slc30a7 APN 3 115990147 splice site probably benign
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 2012-12-06