Incidental Mutation 'R9150:Slc30a5'
ID 694984
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 068938-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.771) question?
Stock # R9150 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 100939156-100969935 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 100939915 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 724 (K724*)
Ref Sequence ENSEMBL: ENSMUSP00000065764 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067246] [ENSMUST00000225922]
AlphaFold Q8R4H9
Predicted Effect probably null
Transcript: ENSMUST00000067246
AA Change: K724*
SMART Domains Protein: ENSMUSP00000065764
Gene: ENSMUSG00000021629
AA Change: K724*

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 probably null
Transcript: ENSMUST00000225922
AA Change: K667*
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (56/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6b CTCCGGTGAGTGCCTCATCC CTCC 5: 137,553,354 (GRCm39) probably null Het
Ampd1 A T 3: 102,988,359 (GRCm39) I101F possibly damaging Het
Arhgap11a A G 2: 113,673,614 (GRCm39) V92A possibly damaging Het
Arih1 C A 9: 59,344,069 (GRCm39) L189F possibly damaging Het
B4galt3 A G 1: 171,103,899 (GRCm39) R379G probably benign Het
Capn12 A G 7: 28,590,378 (GRCm39) N642D probably benign Het
Cdc42ep3 T C 17: 79,642,299 (GRCm39) H207R probably benign Het
Dcps A T 9: 35,035,938 (GRCm39) L316H probably damaging Het
Dmgdh A G 13: 93,825,103 (GRCm39) Y142C probably damaging Het
Elmo2 A G 2: 165,140,607 (GRCm39) V300A probably damaging Het
Eml6 A T 11: 29,755,791 (GRCm39) V821E probably benign Het
Fam181a A T 12: 103,282,139 (GRCm39) N15Y probably damaging Het
Gm26657 G T 4: 56,740,835 (GRCm39) E7* probably null Het
Gm8267 A T 14: 44,955,362 (GRCm39) S220T probably benign Het
Gpld1 A T 13: 25,146,305 (GRCm39) Y183F probably damaging Het
Gpr158 G A 2: 21,831,251 (GRCm39) G784R probably benign Het
Grm2 A G 9: 106,524,657 (GRCm39) L215P Het
Gtpbp1 A G 15: 79,592,165 (GRCm39) D252G probably damaging Het
Heatr5b A G 17: 79,103,448 (GRCm39) V1135A probably benign Het
Irag1 T C 7: 110,498,205 (GRCm39) T397A probably benign Het
Lrrc8e A C 8: 4,286,030 (GRCm39) K752Q probably benign Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Mapre2 A G 18: 23,991,208 (GRCm39) T201A probably benign Het
Mcm9 A T 10: 53,502,110 (GRCm39) N85K Het
Mdga1 T C 17: 30,057,420 (GRCm39) T92A probably damaging Het
Nemf A C 12: 69,387,820 (GRCm39) D421E probably benign Het
Oga A T 19: 45,771,421 (GRCm39) V50E probably benign Het
Or13g1 G C 7: 85,955,942 (GRCm39) F126L probably damaging Het
Or5k14 G T 16: 58,693,005 (GRCm39) C169* probably null Het
Or5m3 A T 2: 85,838,626 (GRCm39) K169* probably null Het
Or8k53 A T 2: 86,177,336 (GRCm39) M258K probably damaging Het
Pcdhga5 A C 18: 37,827,933 (GRCm39) N127T probably damaging Het
Phyhipl A T 10: 70,404,887 (GRCm39) V107E probably damaging Het
Pkd1l1 G A 11: 8,786,256 (GRCm39) R2383C Het
Ppp1r16a G A 15: 76,575,054 (GRCm39) probably benign Het
Pramel20 A G 4: 143,298,531 (GRCm39) Y158C probably benign Het
Rnf41 T C 10: 128,272,399 (GRCm39) V142A Het
Sgcd C T 11: 46,870,170 (GRCm39) V264I probably damaging Het
Six2 A G 17: 85,992,763 (GRCm39) S247P probably benign Het
Slc17a7 T G 7: 44,820,167 (GRCm39) Y241D probably damaging Het
Slitrk1 T A 14: 109,149,101 (GRCm39) I537F possibly damaging Het
Sp140l2 T A 1: 85,091,359 (GRCm39) Q33L probably damaging Het
Spen C T 4: 141,244,468 (GRCm39) R189Q unknown Het
Srd5a3 T A 5: 76,297,615 (GRCm39) L139Q probably damaging Het
Tgfbrap1 A T 1: 43,114,985 (GRCm39) Y38* probably null Het
Tln2 A T 9: 67,128,778 (GRCm39) M1437K probably damaging Het
Tmem87b T C 2: 128,687,401 (GRCm39) I467T probably damaging Het
Tnfrsf21 T A 17: 43,398,691 (GRCm39) I599N probably damaging Het
Trmt112 T A 19: 6,887,620 (GRCm39) L23Q probably damaging Het
Tsc22d1 T A 14: 76,654,056 (GRCm39) N178K probably damaging Het
Ttc23 A G 7: 67,375,850 (GRCm39) Y476C probably damaging Het
Twf1 A T 15: 94,484,274 (GRCm39) W83R probably damaging Het
Vmn2r14 T A 5: 109,367,783 (GRCm39) H403L probably damaging Het
Wiz A T 17: 32,586,809 (GRCm39) I167N probably benign Het
Zdhhc22 G A 12: 87,035,192 (GRCm39) P87S probably benign Het
Zfp618 C T 4: 63,039,603 (GRCm39) Q401* probably null Het
Zfp715 T A 7: 42,948,713 (GRCm39) I416F possibly 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
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
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'- TGACATTATCACCTCATCCGAC -3'
(R):5'- CTGGAGCAGAGAATTGTACAGC -3'

Sequencing Primer
(F):5'- GACCTCCGCTGTTCACTG -3'
(R):5'- AGCAGTGTGAATTGCCATCC -3'
Posted On 2022-01-20