Incidental Mutation 'R6170:Slc30a7'
ID 490364
Institutional Source Beutler Lab
Gene Symbol Slc30a7
Ensembl Gene ENSMUSG00000054414
Gene Name solute carrier family 30 (zinc transporter), member 7
Synonyms 2610034N15Rik, 4833428C12Rik, 1810059J10Rik, ZnT-7, ZnT7
MMRRC Submission 044431-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.737) question?
Stock # R6170 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 115938973-116007406 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115990743 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 123 (F123S)
Ref Sequence ENSEMBL: ENSMUSP00000065254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067485]
AlphaFold Q9JKN1
Predicted Effect probably damaging
Transcript: ENSMUST00000067485
AA Change: F123S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000065254
Gene: ENSMUSG00000054414
AA Change: F123S

Pfam:Cation_efflux 38 296 3.3e-46 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197333
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197847
Meta Mutation Damage Score 0.5593 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 96% (68/71)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik T A 6: 72,348,572 (GRCm38) S90R probably benign Het
4930430A15Rik A G 2: 111,227,948 (GRCm38) Y167H probably benign Het
4930523C07Rik C A 1: 160,075,173 (GRCm38) N4K possibly damaging Het
5430419D17Rik A T 7: 131,174,487 (GRCm38) probably null Het
Adgrl2 A G 3: 148,823,009 (GRCm38) S1167P probably damaging Het
Akr1e1 T C 13: 4,602,724 (GRCm38) D94G possibly damaging Het
Anln T C 9: 22,368,497 (GRCm38) N466D probably benign Het
Atp9b T A 18: 80,877,347 (GRCm38) I231L probably benign Het
Bpifb3 T A 2: 153,919,637 (GRCm38) M2K unknown Het
Btbd3 T C 2: 138,278,942 (GRCm38) L12P probably damaging Het
Btnl6 T A 17: 34,515,506 (GRCm38) Y94F probably damaging Het
Cab39 T A 1: 85,818,455 (GRCm38) L19* probably null Het
Cacna2d2 A G 9: 107,527,334 (GRCm38) D1114G probably damaging Het
Cdh11 A G 8: 102,634,810 (GRCm38) V632A probably benign Het
Cemip T G 7: 83,947,230 (GRCm38) T1109P possibly damaging Het
Col7a1 C A 9: 108,966,443 (GRCm38) P1522Q unknown Het
Colgalt1 C T 8: 71,621,870 (GRCm38) L409F probably damaging Het
Crtc2 A G 3: 90,259,600 (GRCm38) M125V probably benign Het
Cyp2b19 T G 7: 26,759,094 (GRCm38) M78R possibly damaging Het
Cyp4a12a A C 4: 115,327,446 (GRCm38) D308A possibly damaging Het
D16Ertd472e T C 16: 78,545,267 (GRCm38) T242A probably benign Het
Ddah1 A G 3: 145,891,506 (GRCm38) D166G probably benign Het
Dmtn T C 14: 70,617,355 (GRCm38) D60G probably damaging Het
Dsg1a A T 18: 20,335,986 (GRCm38) D607V probably damaging Het
Ebf1 T A 11: 44,883,885 (GRCm38) N236K probably damaging Het
Emc1 A G 4: 139,366,378 (GRCm38) T600A probably benign Het
Fam205a1 A G 4: 42,849,345 (GRCm38) V937A probably benign Het
Fbxo33 T C 12: 59,204,649 (GRCm38) N360S probably benign Het
Fbxw5 A G 2: 25,503,603 (GRCm38) D72G possibly damaging Het
Fhad1 T A 4: 141,890,952 (GRCm38) K1388* probably null Het
Fzd7 A G 1: 59,483,845 (GRCm38) M296V probably benign Het
Gdpd3 T C 7: 126,771,164 (GRCm38) I257T probably benign Het
Glt28d2 T G 3: 85,871,941 (GRCm38) D75A possibly damaging Het
Gm14295 G A 2: 176,811,144 (GRCm38) probably benign Het
Gm28729 A G 9: 96,519,441 (GRCm38) I98T probably damaging Het
Gm4924 C T 10: 82,377,231 (GRCm38) Q288* probably null Het
Gpr150 T C 13: 76,056,557 (GRCm38) M90V probably damaging Het
Ireb2 G A 9: 54,887,372 (GRCm38) V331I probably benign Het
Kdelc2 T C 9: 53,399,742 (GRCm38) V481A possibly damaging Het
Lpcat2b A T 5: 107,433,894 (GRCm38) Y363F probably benign Het
Me2 T C 18: 73,785,781 (GRCm38) I410V probably benign Het
Naxe T C 3: 88,058,230 (GRCm38) E58G probably damaging Het
Nlrp10 T A 7: 108,924,464 (GRCm38) D603V probably benign Het
Nlrp1b T A 11: 71,156,079 (GRCm38) Y1149F probably damaging Het
Nrg1 A G 8: 31,818,480 (GRCm38) Y503H probably damaging Het
Nxpe4 C T 9: 48,392,804 (GRCm38) P64S probably benign Het
Pkd1l3 A T 8: 109,623,179 (GRCm38) T219S unknown Het
Plagl1 T C 10: 13,127,231 (GRCm38) L81P probably damaging Het
Polq A G 16: 37,045,812 (GRCm38) Q457R possibly damaging Het
Ppargc1a C A 5: 51,473,911 (GRCm38) A459S probably damaging Het
Ppp1r13l A G 7: 19,370,437 (GRCm38) D253G probably benign Het
Prl2c2 T A 13: 13,002,172 (GRCm38) N55Y probably damaging Het
Prlr T C 15: 10,328,849 (GRCm38) F470S probably benign Het
Serpina12 T C 12: 104,038,241 (GRCm38) D44G probably benign Het
Sfxn1 T G 13: 54,106,507 (GRCm38) S291R probably benign Het
Sipa1l1 A G 12: 82,341,672 (GRCm38) D224G probably benign Het
Stox2 T A 8: 47,192,020 (GRCm38) M802L probably benign Het
Tmem150a G A 6: 72,356,745 (GRCm38) R30H probably benign Het
Tmem210 G A 2: 25,288,764 (GRCm38) probably null Het
Tor3a T C 1: 156,656,573 (GRCm38) N269S possibly damaging Het
Trp63 A C 16: 25,884,853 (GRCm38) N423T probably benign Het
Vmn2r60 A G 7: 42,135,621 (GRCm38) I86V possibly damaging Het
Vmn2r74 T C 7: 85,957,140 (GRCm38) I333V probably benign Het
Vwa7 C A 17: 35,021,210 (GRCm38) H385N possibly damaging Het
Wdr1 T C 5: 38,529,671 (GRCm38) probably null Het
Wdr31 A G 4: 62,463,424 (GRCm38) Y57H probably damaging Het
Zbtb44 T A 9: 31,053,382 (GRCm38) H29Q probably damaging Het
Zfp532 T A 18: 65,624,438 (GRCm38) S481T probably damaging Het
Zfp955b G T 17: 33,302,110 (GRCm38) R184S probably benign Het
Other mutations in Slc30a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00561:Slc30a7 APN 3 115,946,720 (GRCm38) splice site probably null
IGL01161:Slc30a7 APN 3 115,954,110 (GRCm38) missense possibly damaging 0.54
IGL01360:Slc30a7 APN 3 115,990,116 (GRCm38) missense probably damaging 1.00
IGL02573:Slc30a7 APN 3 115,990,147 (GRCm38) splice site probably benign
R0833:Slc30a7 UTSW 3 115,990,140 (GRCm38) critical splice acceptor site probably null
R0836:Slc30a7 UTSW 3 115,990,140 (GRCm38) critical splice acceptor site probably null
R1381:Slc30a7 UTSW 3 115,956,870 (GRCm38) critical splice donor site probably null
R2445:Slc30a7 UTSW 3 115,978,653 (GRCm38) missense probably damaging 1.00
R4072:Slc30a7 UTSW 3 115,946,680 (GRCm38) missense probably damaging 0.96
R4850:Slc30a7 UTSW 3 115,993,008 (GRCm38) missense probably damaging 0.99
R5429:Slc30a7 UTSW 3 116,006,925 (GRCm38) missense possibly damaging 0.90
R5586:Slc30a7 UTSW 3 115,990,051 (GRCm38) missense probably benign 0.36
R6813:Slc30a7 UTSW 3 115,981,811 (GRCm38) missense probably benign 0.01
R6889:Slc30a7 UTSW 3 115,954,153 (GRCm38) missense probably damaging 1.00
R8445:Slc30a7 UTSW 3 116,007,346 (GRCm38) unclassified probably benign
R8872:Slc30a7 UTSW 3 115,946,668 (GRCm38) missense possibly damaging 0.69
X0023:Slc30a7 UTSW 3 115,990,025 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2017-10-10