Incidental Mutation 'R7020:Slc30a5'
ID 568434
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 045121-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.771) question?
Stock # R7020 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 100939156-100969935 bp(-) (GRCm39)
Type of Mutation splice site (3 bp from exon)
DNA Base Change (assembly) T to A at 100961421 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067246] [ENSMUST00000225922]
AlphaFold Q8R4H9
Predicted Effect probably null
Transcript: ENSMUST00000067246
SMART Domains Protein: ENSMUSP00000065764
Gene: ENSMUSG00000021629

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 null
Transcript: ENSMUST00000225922
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (52/52)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik C T 12: 110,634,975 (GRCm39) G188R probably damaging Het
Abhd3 T C 18: 10,645,127 (GRCm39) Y384C probably damaging Het
Cd209b T A 8: 3,968,783 (GRCm39) E282V probably damaging Het
Cep350 A C 1: 155,804,077 (GRCm39) L1002W probably damaging Het
Clcn1 T C 6: 42,275,754 (GRCm39) V292A probably damaging Het
Clcn7 T C 17: 25,365,325 (GRCm39) I107T possibly damaging Het
Cntrob A G 11: 69,193,918 (GRCm39) probably null Het
Crb1 A T 1: 139,159,341 (GRCm39) S1294T possibly damaging Het
Cst13 T G 2: 148,665,129 (GRCm39) Y41* probably null Het
Gp1ba A G 11: 70,531,139 (GRCm39) probably benign Het
Gucy2e A T 11: 69,123,619 (GRCm39) L427I probably benign Het
Gucy2g A G 19: 55,221,482 (GRCm39) S340P probably damaging Het
Herc1 A G 9: 66,393,360 (GRCm39) T4080A probably benign Het
Iglon5 A T 7: 43,126,319 (GRCm39) C195S probably damaging Het
Itgae A G 11: 73,002,195 (GRCm39) T100A probably damaging Het
Jarid2 C T 13: 45,038,300 (GRCm39) S205L probably damaging Het
Macrod2 A T 2: 142,231,795 (GRCm39) *424C probably null Het
Map2k6 A T 11: 110,397,540 (GRCm39) probably benign Het
Muc4 A T 16: 32,570,628 (GRCm39) K563* probably null Het
Myh7b T C 2: 155,473,671 (GRCm39) I1568T possibly damaging Het
Myo15b G A 11: 115,757,493 (GRCm39) W1114* probably null Het
Mypn T C 10: 63,028,289 (GRCm39) Y258C probably damaging Het
Notch1 T C 2: 26,371,586 (GRCm39) T288A possibly damaging Het
Npc1 C T 18: 12,331,594 (GRCm39) G859R probably damaging Het
Olfm2 T A 9: 20,579,864 (GRCm39) R326W probably damaging Het
Or2a7 T C 6: 43,151,096 (GRCm39) Y59H possibly damaging Het
Or5al7 A G 2: 85,992,363 (GRCm39) I310T probably benign Het
Or5g23 A G 2: 85,438,976 (GRCm39) S93P probably benign Het
Ovol1 G A 19: 5,610,261 (GRCm39) P23L probably damaging Het
Pappa2 C A 1: 158,675,579 (GRCm39) V1056F probably damaging Het
Pik3ca T C 3: 32,490,428 (GRCm39) L25S probably damaging Het
Pla2r1 T C 2: 60,277,743 (GRCm39) H860R possibly damaging Het
Pms1 A T 1: 53,228,541 (GRCm39) H902Q probably damaging Het
Ptgs1 T G 2: 36,141,041 (GRCm39) L496R probably damaging Het
Ralgapa2 A T 2: 146,188,638 (GRCm39) Y1381* probably null Het
Rtl1 T C 12: 109,558,749 (GRCm39) Q1030R possibly damaging Het
Ryr3 T A 2: 112,583,423 (GRCm39) Y2816F probably benign Het
Sh2b2 T C 5: 136,253,153 (GRCm39) T340A possibly damaging Het
Spta1 T C 1: 174,036,918 (GRCm39) L1143P probably damaging Het
St8sia5 T C 18: 77,333,876 (GRCm39) I178T probably damaging Het
Tap2 A G 17: 34,433,388 (GRCm39) N517S possibly damaging Het
Tcp11 A G 17: 28,290,679 (GRCm39) Y227H possibly damaging Het
Usp34 A G 11: 23,343,954 (GRCm39) D1411G probably benign Het
Vmn2r105 A G 17: 20,429,336 (GRCm39) L580P probably damaging Het
Wdr19 A G 5: 65,413,657 (GRCm39) E1200G probably damaging Het
Xirp2 T C 2: 67,355,913 (GRCm39) V3558A probably benign Het
Xpo7 T C 14: 70,903,463 (GRCm39) N1082S probably benign Het
Zbtb49 A T 5: 38,370,711 (GRCm39) L390* probably null Het
Zfp639 C A 3: 32,574,261 (GRCm39) D295E probably damaging 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
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
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'- ACAGACAGTTGTGCACGAAAATC -3'
(R):5'- AGGCAGATAGTCTTGGCGTTTC -3'

Sequencing Primer
(F):5'- GACAGTTGTGCACGAAAATCTCTGAC -3'
(R):5'- ATGTGTTAGGCCTGAGCAACC -3'
Posted On 2019-07-19