Incidental Mutation 'R4072:Slc30a7'
ID 316323
Institutional Source Beutler Lab
Gene Symbol Slc30a7
Ensembl Gene ENSMUSG00000054414
Gene Name solute carrier family 30 (zinc transporter), member 7
Synonyms ZnT7, 4833428C12Rik, 2610034N15Rik, 1810059J10Rik, ZnT-7
MMRRC Submission 040854-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.781) question?
Stock # R4072 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 115732622-115801055 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115740329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 374 (D374G)
Ref Sequence ENSEMBL: ENSMUSP00000065254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067485]
AlphaFold Q9JKN1
Predicted Effect probably damaging
Transcript: ENSMUST00000067485
AA Change: D374G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000065254
Gene: ENSMUSG00000054414
AA Change: D374G

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
Meta Mutation Damage Score 0.3546 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 98% (52/53)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A G 6: 91,922,342 (GRCm39) probably null Het
Abcc5 A G 16: 20,152,445 (GRCm39) I1367T probably damaging Het
Acsm4 T A 7: 119,297,981 (GRCm39) L206H probably benign Het
Acss3 C T 10: 106,959,446 (GRCm39) probably benign Het
Adam34l A T 8: 44,079,387 (GRCm39) F279Y probably damaging Het
Ankar G T 1: 72,727,751 (GRCm39) D169E probably damaging Het
Arfgap3 C T 15: 83,187,330 (GRCm39) A510T probably damaging Het
Atp4a T C 7: 30,414,757 (GRCm39) I182T probably benign Het
Axl A G 7: 25,463,336 (GRCm39) probably benign Het
Baz1a A G 12: 54,988,345 (GRCm39) I268T probably benign Het
Baz2b A T 2: 59,742,917 (GRCm39) probably null Het
C2cd4d C A 3: 94,271,185 (GRCm39) C150* probably null Het
Crtac1 T C 19: 42,293,146 (GRCm39) Y321C probably damaging Het
Dnah11 T C 12: 118,070,227 (GRCm39) H1526R probably damaging Het
Dnah5 A T 15: 28,340,444 (GRCm39) R2284* probably null Het
Dnah9 T C 11: 65,975,730 (GRCm39) T1440A probably benign Het
Eps15l1 A G 8: 73,134,128 (GRCm39) I482T probably damaging Het
Eqtn A G 4: 94,808,199 (GRCm39) I201T possibly damaging Het
Ercc4 G A 16: 12,948,549 (GRCm39) V499I probably damaging Het
Eva1c T A 16: 90,701,019 (GRCm39) F331Y probably damaging Het
Fcho1 T C 8: 72,163,013 (GRCm39) H672R probably damaging Het
Galntl5 A T 5: 25,403,478 (GRCm39) K150* probably null Het
Gm19965 A G 1: 116,748,801 (GRCm39) T161A probably benign Het
Hydin G A 8: 111,231,888 (GRCm39) E1617K possibly damaging Het
Krtap31-1 T C 11: 99,799,058 (GRCm39) I87T possibly damaging Het
Lamp3 A G 16: 19,519,466 (GRCm39) L239P possibly damaging Het
Nlrp4c A G 7: 6,075,709 (GRCm39) K667E probably benign Het
Obox3 G T 7: 15,359,724 (GRCm39) T315N possibly damaging Het
Obscn A G 11: 58,888,009 (GRCm39) I7652T unknown Het
Or52e18 A T 7: 104,609,923 (GRCm39) N5K probably damaging Het
Or5b3 G A 19: 13,388,299 (GRCm39) R122H possibly damaging Het
Or8u8 T A 2: 86,011,991 (GRCm39) M155L probably benign Het
Pde7a G A 3: 19,311,017 (GRCm39) R70C probably damaging Het
Pidd1 A G 7: 141,020,739 (GRCm39) F453L probably damaging Het
Pms2 T C 5: 143,865,819 (GRCm39) I742T probably damaging Het
Pot1a T C 6: 25,752,356 (GRCm39) probably null Het
Pramel33 A T 5: 93,633,057 (GRCm39) M50K probably damaging Het
Rp1l1 A T 14: 64,265,581 (GRCm39) E389V probably damaging Het
Scnn1a A G 6: 125,315,870 (GRCm39) N407S probably damaging Het
Slco2a1 T A 9: 102,945,201 (GRCm39) I192N probably damaging Het
Srp72 C A 5: 77,146,098 (GRCm39) T633K probably benign Het
Tm2d3 T A 7: 65,347,498 (GRCm39) L49* probably null Het
Tmprss11e T C 5: 86,863,502 (GRCm39) T188A possibly damaging Het
Tox T C 4: 6,842,396 (GRCm39) T45A probably damaging Het
Usp31 A G 7: 121,267,005 (GRCm39) probably null Het
Vwc2 T A 11: 11,066,446 (GRCm39) L178Q probably damaging Het
Zbbx C T 3: 75,012,978 (GRCm39) G151E probably damaging Het
Zbtb11 C T 16: 55,818,427 (GRCm39) T617I possibly damaging Het
Other mutations in Slc30a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:Slc30a7 APN 3 115,740,369 (GRCm39) splice site probably null
IGL01161:Slc30a7 APN 3 115,747,759 (GRCm39) missense possibly damaging 0.54
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-05-15