Incidental Mutation 'IGL01360:Slc30a7'
ID75704
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc30a7
Ensembl Gene ENSMUSG00000054414
Gene Namesolute carrier family 30 (zinc transporter), member 7
Synonyms2610034N15Rik, 4833428C12Rik, 1810059J10Rik, ZnT-7, ZnT7
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.639) question?
Stock #IGL01360
Quality Score
Status
Chromosome3
Chromosomal Location115938973-116007406 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 115990116 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 136 (V136E)
Ref Sequence ENSEMBL: ENSMUSP00000065254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067485]
Predicted Effect probably damaging
Transcript: ENSMUST00000067485
AA Change: V136E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065254
Gene: ENSMUSG00000054414
AA Change: V136E

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430573F11Rik A G 8: 36,512,559 I439V probably benign Het
Abca12 T A 1: 71,286,489 I1517L possibly damaging Het
Akap12 A T 10: 4,357,537 D1449V probably benign Het
Alg6 T A 4: 99,742,406 Y161N probably benign Het
Arhgap45 A T 10: 80,028,648 probably benign Het
Arhgap5 A T 12: 52,518,240 I665F probably damaging Het
Bbs4 A G 9: 59,339,848 V123A possibly damaging Het
Carm1 C T 9: 21,587,302 T480I probably benign Het
Catsperb G A 12: 101,625,254 V1032M probably damaging Het
Cdc42bpb A C 12: 111,342,075 I101S probably damaging Het
Copa C A 1: 172,087,588 probably null Het
Cramp1l T C 17: 24,997,573 I189V probably damaging Het
Dhx33 G A 11: 70,993,861 Q40* probably null Het
Egf A T 3: 129,740,020 F57Y probably damaging Het
Flt4 T C 11: 49,643,506 I1168T probably benign Het
Gm12794 A T 4: 101,940,468 D21V possibly damaging Het
Gm14178 A G 11: 99,747,443 S37P unknown Het
Gpbp1 A T 13: 111,426,541 probably benign Het
Herc1 T C 9: 66,483,699 S3980P probably benign Het
Itga6 T C 2: 71,787,326 probably null Het
Itgb4 T C 11: 115,990,940 S772P probably damaging Het
Kcng4 C A 8: 119,625,677 G498V probably benign Het
Lrp1 T G 10: 127,545,820 D3795A possibly damaging Het
Lrrk2 T A 15: 91,700,569 probably null Het
Mettl25 A T 10: 105,823,197 H408Q probably damaging Het
Mki67 T C 7: 135,705,776 E457G probably damaging Het
Mpl G A 4: 118,455,661 T158I possibly damaging Het
Mtg2 C T 2: 180,084,077 T160I probably damaging Het
Mtif2 A G 11: 29,530,110 I59V probably benign Het
Ncapg C A 5: 45,674,385 S191* probably null Het
Nup214 T C 2: 32,038,178 probably benign Het
Olfr1154 T C 2: 87,903,527 T50A probably benign Het
Phf3 T A 1: 30,808,728 T1245S probably damaging Het
Piezo2 T C 18: 63,117,699 D443G probably damaging Het
Ptchd4 C A 17: 42,317,045 H132Q probably benign Het
Pum1 T C 4: 130,728,170 probably benign Het
Slc5a10 A G 11: 61,715,136 V116A probably damaging Het
Sos2 A T 12: 69,590,800 S1046T probably benign Het
Svep1 A G 4: 58,116,554 S899P possibly damaging Het
Tfr2 G A 5: 137,571,691 V120I probably benign Het
Tnfrsf18 A T 4: 156,028,036 R117* probably null Het
Vmn1r77 T G 7: 12,041,388 F30L probably benign Het
Vmn2r112 T C 17: 22,618,622 M688T probably benign Het
Vmn2r93 T A 17: 18,305,248 D389E possibly damaging Het
Zpld1 T G 16: 55,226,385 N407T probably benign Het
Zranb3 C T 1: 127,959,885 W935* probably null Het
Zyx G A 6: 42,350,444 R59Q 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
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
X0023:Slc30a7 UTSW 3 115990025 missense probably damaging 0.98
Posted On2013-10-07