Incidental Mutation 'IGL01161:Slc30a7'
ID53477
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: 0.526) question?
Stock #IGL01161
Quality Score
Status
Chromosome3
Chromosomal Location115938973-116007406 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 115954110 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 344 (V344A)
Ref Sequence ENSEMBL: ENSMUSP00000065254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067485]
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: 103,705,118 D543E probably benign Het
Acad9 A C 3: 36,090,125 N583T possibly damaging Het
Arhgap5 G A 12: 52,516,860 V205M probably damaging Het
Arid1b G A 17: 5,342,399 R2068Q probably damaging Het
Bex3 T C X: 136,271,469 F60S probably damaging Het
Casd1 C T 6: 4,619,833 P193S possibly damaging Het
Ceacam11 A T 7: 17,978,510 I295F possibly damaging Het
Ceacam3 T A 7: 17,151,857 N128K probably benign Het
Cyp1a2 C T 9: 57,679,893 E372K probably damaging Het
Ddb1 T G 19: 10,605,707 M1R probably null Het
Ecel1 T C 1: 87,153,193 D329G possibly damaging Het
Fat2 T C 11: 55,284,191 N1899D probably benign Het
Gli3 A G 13: 15,548,398 probably null Het
Gm20507 A T 17: 33,644,753 probably benign Het
Gml T G 15: 74,813,839 Y99S probably damaging Het
Gpr119 G T X: 48,673,248 probably benign Het
Hcn1 T C 13: 117,656,922 Y237H unknown Het
Hook2 G A 8: 84,994,931 V273I probably benign Het
Il12rb2 T C 6: 67,361,865 probably benign Het
Kdm2a A G 19: 4,319,251 F1112S probably benign Het
Lpl A T 8: 68,892,625 K94* probably null Het
Lrrc8a T A 2: 30,255,810 L212Q probably damaging Het
Me2 A T 18: 73,770,816 probably benign Het
Mmp11 A T 10: 75,926,821 M266K probably benign Het
Mprip T A 11: 59,731,573 V162E possibly damaging Het
Nsf C T 11: 103,861,885 probably benign Het
Olfr661 T C 7: 104,688,381 V122A probably benign Het
Pcif1 T A 2: 164,885,788 L167H probably damaging Het
Reps1 T C 10: 18,093,895 S249P probably damaging Het
Sdf4 T A 4: 156,009,306 M299K probably benign Het
Svep1 G A 4: 58,146,569 P358S probably damaging Het
Syt9 G T 7: 107,425,149 R83L probably damaging Het
Tbc1d15 T C 10: 115,202,530 I593V probably benign Het
Trio T A 15: 27,749,781 N1134I probably damaging Het
Trpv3 A G 11: 73,296,718 probably benign Het
Ugp2 T A 11: 21,323,273 I449L possibly damaging Het
Usp24 C A 4: 106,436,844 H2595N probably benign Het
Vat1l A G 8: 114,369,889 N370S possibly damaging Het
Wwc1 C A 11: 35,867,276 D748Y probably damaging Het
Zfyve9 G A 4: 108,681,064 H1002Y probably damaging Het
Other mutations in Slc30a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:Slc30a7 APN 3 115946720 splice site probably null
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
X0023:Slc30a7 UTSW 3 115990025 missense probably damaging 0.98
Posted On2013-06-28