Incidental Mutation 'IGL03025:Slc30a5'
ID 408143
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc30a5
Ensembl Gene ENSMUSG00000021629
Gene Name solute carrier family 30 (zinc transporter), member 5
Synonyms 1810010K08Rik, ZnT-5, Znt5, ZTL1, Zntl1
Accession Numbers
Essential gene? Probably essential (E-score: 0.771) question?
Stock # IGL03025
Quality Score
Status
Chromosome 13
Chromosomal Location 100939156-100969935 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100950395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 231 (S231P)
Ref Sequence ENSEMBL: ENSMUSP00000153587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067246] [ENSMUST00000225922]
AlphaFold Q8R4H9
Predicted Effect possibly damaging
Transcript: ENSMUST00000067246
AA Change: S288P

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000065764
Gene: ENSMUSG00000021629
AA Change: S288P

DomainStartEndE-ValueType
low complexity region 6 23 N/A INTRINSIC
transmembrane domain 56 75 N/A INTRINSIC
transmembrane domain 96 113 N/A INTRINSIC
transmembrane domain 128 145 N/A INTRINSIC
transmembrane domain 150 164 N/A INTRINSIC
transmembrane domain 192 214 N/A INTRINSIC
transmembrane domain 235 254 N/A INTRINSIC
transmembrane domain 264 286 N/A INTRINSIC
transmembrane domain 299 321 N/A INTRINSIC
transmembrane domain 341 360 N/A INTRINSIC
Pfam:Cation_efflux 417 645 1.9e-50 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000225086
AA Change: S44P
Predicted Effect probably damaging
Transcript: ENSMUST00000225922
AA Change: S231P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the SLC30A/ZnT family of zinc transporter proteins. ZnT proteins mediate both cellular zinc efflux and zinc sequestration into membrane-bound organelles. The encoded protein plays a role in the early secretory pathway as a heterodimer with zinc transporter 6, and may also regulate zinc sequestration into secretory granules of pancreatic beta cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mice are growth retarded and exhibit skeletal defects including reduced bone density. The majority of mutant male mice die suddenly when they reach reproductive age due to bradyarrhythmia, whereas female mice live a normal term. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,315,405 (GRCm39) N91S possibly damaging Het
Adora1 T C 1: 134,130,807 (GRCm39) Y288C probably damaging Het
Avil A T 10: 126,849,446 (GRCm39) T581S probably benign Het
Cacna1h C T 17: 25,651,868 (GRCm39) W92* probably null Het
Calr3 A C 8: 73,188,735 (GRCm39) probably benign Het
Cdan1 T C 2: 120,561,222 (GRCm39) E181G probably damaging Het
Clca4a T C 3: 144,663,079 (GRCm39) N590S probably benign Het
Cnga1 T A 5: 72,762,756 (GRCm39) I253F probably benign Het
Cngb3 T G 4: 19,283,498 (GRCm39) probably benign Het
Cstf3 T A 2: 104,439,276 (GRCm39) Y30N possibly damaging Het
Cyp2a12 T A 7: 26,730,631 (GRCm39) S199T probably benign Het
Dlg1 A G 16: 31,624,545 (GRCm39) I412V probably benign Het
Fasn C T 11: 120,708,974 (GRCm39) V570M probably benign Het
Fhit A G 14: 10,421,534 (GRCm38) S85P probably damaging Het
Frmd5 T A 2: 121,383,825 (GRCm39) M369L probably benign Het
Ftdc2 A C 16: 58,458,076 (GRCm39) I75S probably damaging Het
Gatb T C 3: 85,483,181 (GRCm39) W63R probably damaging Het
Gga1 G T 15: 78,772,382 (GRCm39) L227F probably damaging Het
Itgb1 A G 8: 129,449,065 (GRCm39) N557S possibly damaging Het
Ltf T C 9: 110,854,169 (GRCm39) V328A possibly damaging Het
Nefh T C 11: 4,895,289 (GRCm39) E300G probably damaging Het
Nrip1 A G 16: 76,091,353 (GRCm39) V68A probably benign Het
Or1m1 T C 9: 18,666,665 (GRCm39) N89D probably benign Het
Pcdhb13 T G 18: 37,575,817 (GRCm39) V65G probably damaging Het
Pcdhb4 A T 18: 37,443,030 (GRCm39) Y780F possibly damaging Het
Plcd3 C T 11: 102,965,724 (GRCm39) E503K probably benign Het
Rbm6 T A 9: 107,651,918 (GRCm39) D903V possibly damaging Het
Rnf133 A G 6: 23,649,134 (GRCm39) M265T probably benign Het
Sbf1 T C 15: 89,173,848 (GRCm39) T1775A probably damaging Het
Serpina1f T A 12: 103,659,805 (GRCm39) D159V probably damaging Het
Skap1 C A 11: 96,593,508 (GRCm39) S118R probably damaging Het
Slc17a9 C A 2: 180,381,609 (GRCm39) probably null Het
Stac2 A G 11: 97,934,548 (GRCm39) F52S probably damaging Het
Them7 T C 2: 105,128,150 (GRCm39) S44P probably benign Het
Tnmd A G X: 132,766,162 (GRCm39) probably benign Het
Trdmt1 A T 2: 13,528,246 (GRCm39) I105N probably damaging Het
Trpc1 C T 9: 95,592,313 (GRCm39) G554E probably damaging Het
Vmn1r37 A G 6: 66,708,740 (GRCm39) Y85C probably benign Het
Zim1 T C 7: 6,685,058 (GRCm39) T131A probably benign Het
Other mutations in Slc30a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00161:Slc30a5 APN 13 100,943,174 (GRCm39) missense probably damaging 1.00
IGL01647:Slc30a5 APN 13 100,957,653 (GRCm39) missense possibly damaging 0.66
IGL02338:Slc30a5 APN 13 100,939,941 (GRCm39) missense probably damaging 0.99
IGL02408:Slc30a5 APN 13 100,950,232 (GRCm39) missense probably damaging 1.00
IGL02582:Slc30a5 APN 13 100,949,155 (GRCm39) critical splice donor site probably null
IGL02987:Slc30a5 APN 13 100,940,423 (GRCm39) missense probably damaging 1.00
IGL03064:Slc30a5 APN 13 100,947,818 (GRCm39) missense probably damaging 1.00
IGL03089:Slc30a5 APN 13 100,950,338 (GRCm39) missense probably benign 0.01
IGL03268:Slc30a5 APN 13 100,943,211 (GRCm39) missense probably damaging 1.00
R0083:Slc30a5 UTSW 13 100,939,908 (GRCm39) missense probably damaging 1.00
R0108:Slc30a5 UTSW 13 100,939,908 (GRCm39) missense probably damaging 1.00
R0108:Slc30a5 UTSW 13 100,939,908 (GRCm39) missense probably damaging 1.00
R0153:Slc30a5 UTSW 13 100,963,002 (GRCm39) missense possibly damaging 0.46
R0542:Slc30a5 UTSW 13 100,945,793 (GRCm39) splice site probably null
R0601:Slc30a5 UTSW 13 100,951,278 (GRCm39) intron probably benign
R1125:Slc30a5 UTSW 13 100,939,921 (GRCm39) missense probably damaging 1.00
R1434:Slc30a5 UTSW 13 100,939,950 (GRCm39) missense probably damaging 0.98
R1673:Slc30a5 UTSW 13 100,949,891 (GRCm39) missense probably benign 0.13
R1762:Slc30a5 UTSW 13 100,949,970 (GRCm39) missense probably damaging 1.00
R1974:Slc30a5 UTSW 13 100,950,461 (GRCm39) missense probably benign 0.06
R2082:Slc30a5 UTSW 13 100,943,041 (GRCm39) critical splice donor site probably null
R2151:Slc30a5 UTSW 13 100,940,457 (GRCm39) missense probably damaging 1.00
R2152:Slc30a5 UTSW 13 100,940,457 (GRCm39) missense probably damaging 1.00
R2153:Slc30a5 UTSW 13 100,940,457 (GRCm39) missense probably damaging 1.00
R3899:Slc30a5 UTSW 13 100,954,655 (GRCm39) missense probably benign 0.18
R4009:Slc30a5 UTSW 13 100,945,741 (GRCm39) missense probably damaging 1.00
R4010:Slc30a5 UTSW 13 100,945,741 (GRCm39) missense probably damaging 1.00
R4270:Slc30a5 UTSW 13 100,965,521 (GRCm39) missense probably benign 0.04
R4815:Slc30a5 UTSW 13 100,950,218 (GRCm39) missense probably damaging 1.00
R5048:Slc30a5 UTSW 13 100,943,249 (GRCm39) missense probably damaging 1.00
R5450:Slc30a5 UTSW 13 100,957,680 (GRCm39) missense possibly damaging 0.81
R5638:Slc30a5 UTSW 13 100,950,380 (GRCm39) nonsense probably null
R5892:Slc30a5 UTSW 13 100,949,810 (GRCm39) missense probably damaging 1.00
R5911:Slc30a5 UTSW 13 100,945,600 (GRCm39) missense probably damaging 1.00
R6453:Slc30a5 UTSW 13 100,951,197 (GRCm39) missense probably benign 0.00
R6769:Slc30a5 UTSW 13 100,950,368 (GRCm39) missense probably benign 0.19
R6795:Slc30a5 UTSW 13 100,953,577 (GRCm39) missense probably damaging 1.00
R7020:Slc30a5 UTSW 13 100,961,421 (GRCm39) splice site probably null
R7224:Slc30a5 UTSW 13 100,945,762 (GRCm39) missense probably damaging 0.99
R7305:Slc30a5 UTSW 13 100,947,932 (GRCm39) missense probably damaging 0.98
R7318:Slc30a5 UTSW 13 100,950,477 (GRCm39) missense probably benign 0.13
R7411:Slc30a5 UTSW 13 100,954,688 (GRCm39) missense probably benign 0.15
R7563:Slc30a5 UTSW 13 100,940,480 (GRCm39) missense probably benign 0.30
R8039:Slc30a5 UTSW 13 100,950,189 (GRCm39) critical splice donor site probably null
R8061:Slc30a5 UTSW 13 100,965,419 (GRCm39) missense probably damaging 0.99
R8973:Slc30a5 UTSW 13 100,943,202 (GRCm39) missense probably damaging 0.99
R9150:Slc30a5 UTSW 13 100,939,915 (GRCm39) nonsense probably null
R9352:Slc30a5 UTSW 13 100,940,380 (GRCm39) missense probably benign 0.10
R9359:Slc30a5 UTSW 13 100,949,970 (GRCm39) missense probably damaging 1.00
R9405:Slc30a5 UTSW 13 100,950,416 (GRCm39) missense probably benign 0.00
R9407:Slc30a5 UTSW 13 100,951,214 (GRCm39) nonsense probably null
R9628:Slc30a5 UTSW 13 100,961,422 (GRCm39) critical splice donor site probably null
X0019:Slc30a5 UTSW 13 100,950,350 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02