Incidental Mutation 'IGL01161:Slc30a7'
ID 53477
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 ZnT7, 4833428C12Rik, 2610034N15Rik, 1810059J10Rik, ZnT-7
Accession Numbers
Essential gene? Probably essential (E-score: 0.781) question?
Stock # IGL01161
Quality Score
Status
Chromosome 3
Chromosomal Location 115732622-115801055 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115747759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 344 (V344A)
Ref Sequence ENSEMBL: ENSMUSP00000065254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067485]
AlphaFold Q9JKN1
Predicted Effect possibly damaging
Transcript: ENSMUST00000067485
AA Change: V344A

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000065254
Gene: ENSMUSG00000054414
AA Change: V344A

DomainStartEndE-ValueType
Pfam:Cation_efflux 38 296 3.3e-46 PFAM
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 T A 2: 103,535,463 (GRCm39) D543E probably benign Het
Acad9 A C 3: 36,144,274 (GRCm39) N583T possibly damaging Het
Arhgap5 G A 12: 52,563,643 (GRCm39) V205M probably damaging Het
Arid1b G A 17: 5,392,674 (GRCm39) R2068Q probably damaging Het
Bex3 T C X: 135,172,218 (GRCm39) F60S probably damaging Het
Casd1 C T 6: 4,619,833 (GRCm39) P193S possibly damaging Het
Ceacam11 A T 7: 17,712,435 (GRCm39) I295F possibly damaging Het
Ceacam3 T A 7: 16,885,782 (GRCm39) N128K probably benign Het
Cyp1a2 C T 9: 57,587,176 (GRCm39) E372K probably damaging Het
Ddb1 T G 19: 10,583,071 (GRCm39) M1R probably null Het
Ecel1 T C 1: 87,080,915 (GRCm39) D329G possibly damaging Het
Fat2 T C 11: 55,175,017 (GRCm39) N1899D probably benign Het
Gli3 A G 13: 15,722,983 (GRCm39) probably null Het
Gm20507 A T 17: 33,863,727 (GRCm39) probably benign Het
Gml T G 15: 74,685,688 (GRCm39) Y99S probably damaging Het
Gpr119 G T X: 47,762,125 (GRCm39) probably benign Het
Hcn1 T C 13: 117,793,458 (GRCm39) Y237H unknown Het
Hook2 G A 8: 85,721,560 (GRCm39) V273I probably benign Het
Il12rb2 T C 6: 67,338,849 (GRCm39) probably benign Het
Kdm2a A G 19: 4,369,279 (GRCm39) F1112S probably benign Het
Lpl A T 8: 69,345,277 (GRCm39) K94* probably null Het
Lrrc8a T A 2: 30,145,822 (GRCm39) L212Q probably damaging Het
Me2 A T 18: 73,903,887 (GRCm39) probably benign Het
Mmp11 A T 10: 75,762,655 (GRCm39) M266K probably benign Het
Mprip T A 11: 59,622,399 (GRCm39) V162E possibly damaging Het
Nsf C T 11: 103,752,711 (GRCm39) probably benign Het
Or56b2 T C 7: 104,337,588 (GRCm39) V122A probably benign Het
Pcif1 T A 2: 164,727,708 (GRCm39) L167H probably damaging Het
Reps1 T C 10: 17,969,643 (GRCm39) S249P probably damaging Het
Sdf4 T A 4: 156,093,763 (GRCm39) M299K probably benign Het
Svep1 G A 4: 58,146,569 (GRCm39) P358S probably damaging Het
Syt9 G T 7: 107,024,356 (GRCm39) R83L probably damaging Het
Tbc1d15 T C 10: 115,038,435 (GRCm39) I593V probably benign Het
Trio T A 15: 27,749,867 (GRCm39) N1134I probably damaging Het
Trpv3 A G 11: 73,187,544 (GRCm39) probably benign Het
Ugp2 T A 11: 21,273,273 (GRCm39) I449L possibly damaging Het
Usp24 C A 4: 106,294,041 (GRCm39) H2595N probably benign Het
Vat1l A G 8: 115,096,629 (GRCm39) N370S possibly damaging Het
Wwc1 C A 11: 35,758,103 (GRCm39) D748Y probably damaging Het
Zfyve9 G A 4: 108,538,261 (GRCm39) H1002Y probably damaging Het
Other mutations in Slc30a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:Slc30a7 APN 3 115,740,369 (GRCm39) splice site probably null
IGL01360:Slc30a7 APN 3 115,783,765 (GRCm39) missense probably damaging 1.00
IGL02573:Slc30a7 APN 3 115,783,796 (GRCm39) splice site probably benign
R0833:Slc30a7 UTSW 3 115,783,789 (GRCm39) critical splice acceptor site probably null
R0836:Slc30a7 UTSW 3 115,783,789 (GRCm39) critical splice acceptor site probably null
R1381:Slc30a7 UTSW 3 115,750,519 (GRCm39) critical splice donor site probably null
R2445:Slc30a7 UTSW 3 115,772,302 (GRCm39) missense probably damaging 1.00
R4072:Slc30a7 UTSW 3 115,740,329 (GRCm39) missense probably damaging 0.96
R4850:Slc30a7 UTSW 3 115,786,657 (GRCm39) missense probably damaging 0.99
R5429:Slc30a7 UTSW 3 115,800,574 (GRCm39) missense possibly damaging 0.90
R5586:Slc30a7 UTSW 3 115,783,700 (GRCm39) missense probably benign 0.36
R6170:Slc30a7 UTSW 3 115,784,392 (GRCm39) missense probably damaging 1.00
R6813:Slc30a7 UTSW 3 115,775,460 (GRCm39) missense probably benign 0.01
R6889:Slc30a7 UTSW 3 115,747,802 (GRCm39) missense probably damaging 1.00
R8445:Slc30a7 UTSW 3 115,800,995 (GRCm39) unclassified probably benign
R8872:Slc30a7 UTSW 3 115,740,317 (GRCm39) missense possibly damaging 0.69
X0023:Slc30a7 UTSW 3 115,783,674 (GRCm39) missense probably damaging 0.98
Posted On 2013-06-28