Incidental Mutation 'R4009:Slc30a5'
ID 311615
Institutional Source Beutler Lab
Gene Symbol Slc30a5
Ensembl Gene ENSMUSG00000021629
Gene Name solute carrier family 30 (zinc transporter), member 5
Synonyms 1810010K08Rik, ZnT-5, Znt5, ZTL1, Zntl1
MMRRC Submission 040846-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.771) question?
Stock # R4009 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 100939156-100969935 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 100945741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 537 (A537V)
Ref Sequence ENSEMBL: ENSMUSP00000065764 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067246] [ENSMUST00000225922]
AlphaFold Q8R4H9
Predicted Effect probably damaging
Transcript: ENSMUST00000067246
AA Change: A537V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000065764
Gene: ENSMUSG00000021629
AA Change: A537V

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 probably benign
Transcript: ENSMUST00000225086
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225129
Predicted Effect probably damaging
Transcript: ENSMUST00000225922
AA Change: A480V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.1583 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.5%
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A T 11: 109,980,933 (GRCm39) L35Q probably damaging Het
Acss2 T A 2: 155,399,548 (GRCm39) L529Q probably damaging Het
Apc2 T A 10: 80,149,426 (GRCm39) D1464E probably benign Het
Atp8a2 A G 14: 60,265,434 (GRCm39) S301P possibly damaging Het
Cntln A G 4: 84,981,452 (GRCm39) T877A probably benign Het
Cntn6 T C 6: 104,810,783 (GRCm39) I537T probably damaging Het
Cyp2d12 T G 15: 82,440,493 (GRCm39) L94R probably damaging Het
Dnah7a A G 1: 53,564,164 (GRCm39) L1965P probably damaging Het
Dock10 T C 1: 80,510,148 (GRCm39) N1560S probably damaging Het
F830045P16Rik A T 2: 129,305,467 (GRCm39) N302K probably damaging Het
Fxr1 G T 3: 34,119,171 (GRCm39) R580L probably benign Het
Gm5592 G T 7: 40,938,934 (GRCm39) V739L probably benign Het
Gna13 A G 11: 109,286,843 (GRCm39) D222G probably damaging Het
Grm7 T A 6: 111,472,683 (GRCm39) Y841N probably damaging Het
Kat2b G A 17: 53,951,769 (GRCm39) probably null Het
Kcng4 A G 8: 120,352,824 (GRCm39) V362A probably damaging Het
Kcnh1 T A 1: 191,959,448 (GRCm39) I334N probably benign Het
Mapkbp1 T C 2: 119,854,086 (GRCm39) S1222P probably benign Het
Or10a3m A T 7: 108,313,366 (GRCm39) I269L probably benign Het
Or10ag57 A T 2: 87,218,924 (GRCm39) I292F possibly damaging Het
Or11g26 T C 14: 50,753,419 (GRCm39) S253P possibly damaging Het
Or5h24 G A 16: 58,919,124 (GRCm39) T77I unknown Het
Pik3cb A G 9: 98,922,982 (GRCm39) Y1017H probably damaging Het
Plpp5 A G 8: 26,210,338 (GRCm39) E36G probably damaging Het
Pnma8a A T 7: 16,695,301 (GRCm39) K385N probably damaging Het
Ptprd T G 4: 75,874,634 (GRCm39) M1272L possibly damaging Het
Rad51ap2 A G 12: 11,507,052 (GRCm39) I325V probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Skint4 T C 4: 111,977,306 (GRCm39) V232A possibly damaging Het
Tcerg1 CAATTGAAAA CAA 18: 42,697,201 (GRCm39) probably null Het
Tenm3 C A 8: 48,802,258 (GRCm39) K162N probably damaging Het
Vmn2r44 T A 7: 8,380,987 (GRCm39) Q302L possibly damaging Het
Zfp618 G A 4: 63,051,801 (GRCm39) A861T 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
IGL03025:Slc30a5 APN 13 100,950,395 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- CTGAAAGGCAGCACAGTACTCC -3'
(R):5'- ACAGTTGGACCAAGGATGTGC -3'

Sequencing Primer
(F):5'- GCAGCACAGTACTCCCCAAGG -3'
(R):5'- CTAGGTAGCCCTGGAATTCACAG -3'
Posted On 2015-04-29