Incidental Mutation 'R2151:Slc30a5'
ID 234304
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 040154-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.771) question?
Stock # R2151 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 100939156-100969935 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100940457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 619 (H619Q)
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: H676Q

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000065764
Gene: ENSMUSG00000021629
AA Change: H676Q

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: H619Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Meta Mutation Damage Score 0.4859 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (91/91)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik T C 12: 72,954,725 (GRCm39) probably null Het
4930579F01Rik A G 3: 137,882,217 (GRCm39) probably null Het
Abhd17c G T 7: 83,800,663 (GRCm39) H130Q probably damaging Het
Actr10 T A 12: 70,987,575 (GRCm39) C27* probably null Het
Als2 G A 1: 59,246,948 (GRCm39) H564Y probably damaging Het
Anxa2r1 C T 13: 120,496,335 (GRCm39) C178Y unknown Het
Art5 A G 7: 101,747,407 (GRCm39) L124P possibly damaging Het
Asap2 A T 12: 21,162,084 (GRCm39) T14S probably damaging Het
Atp2c2 A G 8: 120,482,841 (GRCm39) N901S probably benign Het
Bicd2 G T 13: 49,533,052 (GRCm39) C546F probably damaging Het
Ccn3 G A 15: 54,615,854 (GRCm39) A340T probably benign Het
Cnbp C T 6: 87,822,281 (GRCm39) G81D probably damaging Het
Dnah5 T C 15: 28,444,237 (GRCm39) Y4012H probably damaging Het
Dok5 G A 2: 170,642,816 (GRCm39) G38D probably damaging Het
Drc3 A T 11: 60,265,983 (GRCm39) E224V probably benign Het
Ehd2 T C 7: 15,686,128 (GRCm39) K315E probably damaging Het
Eif6 A T 2: 155,664,810 (GRCm39) N225K probably benign Het
Epg5 T C 18: 78,070,517 (GRCm39) V2264A probably benign Het
Faf2 T C 13: 54,796,220 (GRCm39) F126L probably damaging Het
Fiz1 T C 7: 5,015,880 (GRCm39) S37G possibly damaging Het
Frs3 T C 17: 48,013,987 (GRCm39) S227P probably benign Het
Garin3 A T 11: 46,296,158 (GRCm39) K177* probably null Het
Gm4787 T A 12: 81,423,993 (GRCm39) I722F probably benign Het
Gm6370 T A 5: 146,430,451 (GRCm39) L212Q probably damaging Het
Gmnc G A 16: 26,779,456 (GRCm39) H142Y possibly damaging Het
Gna15 T C 10: 81,338,738 (GRCm39) Y367C probably damaging Het
Gpr158 G A 2: 21,832,325 (GRCm39) V1142M possibly damaging Het
Gpx6 A G 13: 21,503,141 (GRCm39) K185R probably damaging Het
Hc A C 2: 34,881,115 (GRCm39) probably benign Het
Hdac9 A G 12: 34,440,255 (GRCm39) S375P probably damaging Het
Kat6b A T 14: 21,718,735 (GRCm39) H1138L probably benign Het
Klre1 G A 6: 129,556,996 (GRCm39) E33K possibly damaging Het
Ldhb C A 6: 142,444,396 (GRCm39) V86L possibly damaging Het
Maco1 A G 4: 134,538,534 (GRCm39) V470A probably benign Het
Magi3 T A 3: 103,954,198 (GRCm39) K713I probably damaging Het
Magi3 T C 3: 103,992,554 (GRCm39) Y306C probably damaging Het
Minar1 T G 9: 89,484,221 (GRCm39) K392T possibly damaging Het
Mmp17 T C 5: 129,682,725 (GRCm39) Y455H probably benign Het
Mmp25 T A 17: 23,850,048 (GRCm39) Y504F probably damaging Het
Myo1a T C 10: 127,556,050 (GRCm39) I969T probably benign Het
Nedd4l T A 18: 65,343,401 (GRCm39) H820Q probably damaging Het
Nf1 T A 11: 79,338,396 (GRCm39) M1136K possibly damaging Het
Nmi T C 2: 51,842,555 (GRCm39) E179G probably damaging Het
Nrros A T 16: 31,962,076 (GRCm39) M611K probably benign Het
Nsd1 A T 13: 55,439,049 (GRCm39) N1692I probably damaging Het
Nuak1 T C 10: 84,245,509 (GRCm39) N112S probably benign Het
Odf2l T C 3: 144,854,785 (GRCm39) Y488H possibly damaging Het
Or4c106 C A 2: 88,683,128 (GRCm39) P278H probably damaging Het
Or8g21 T A 9: 38,906,012 (GRCm39) T240S probably damaging Het
Or8g30 T A 9: 39,230,413 (GRCm39) I166F probably damaging Het
Otop2 A G 11: 115,220,237 (GRCm39) D359G possibly damaging Het
Pi4ka A T 16: 17,185,371 (GRCm39) F243Y probably benign Het
Pnma8b T C 7: 16,679,837 (GRCm39) C274R probably benign Het
Ppp1r42 A G 1: 10,073,572 (GRCm39) V6A probably benign Het
Prrg4 A G 2: 104,669,733 (GRCm39) L128S probably damaging Het
Prss33 C T 17: 24,053,817 (GRCm39) V87M probably damaging Het
Psen2 A G 1: 180,061,229 (GRCm39) V278A probably damaging Het
Ptpn13 C A 5: 103,673,651 (GRCm39) T538K probably damaging Het
Pttg1ip2 C T 5: 5,528,875 (GRCm39) V47I possibly damaging Het
Rad51ap2 A G 12: 11,507,986 (GRCm39) H636R probably benign Het
Rbak A C 5: 143,162,257 (GRCm39) D35E possibly damaging Het
Rbms1 C A 2: 60,592,392 (GRCm39) probably null Het
Rgs7bp T A 13: 105,100,597 (GRCm39) N226I probably damaging Het
Rnf182 T A 13: 43,821,899 (GRCm39) V150E probably benign Het
Sacs A G 14: 61,447,089 (GRCm39) Y3045C probably damaging Het
Scp2 G T 4: 107,921,141 (GRCm39) A23E probably benign Het
Sec16a A T 2: 26,303,757 (GRCm39) probably benign Het
Slfn10-ps T A 11: 82,926,511 (GRCm39) noncoding transcript Het
Slmap A G 14: 26,139,402 (GRCm39) Y771H probably damaging Het
Slx T A X: 26,489,689 (GRCm39) probably benign Het
Spns3 C A 11: 72,436,787 (GRCm39) probably benign Het
Stxbp1 T A 2: 32,692,868 (GRCm39) I383F probably damaging Het
Taf3 C T 2: 9,956,377 (GRCm39) E597K possibly damaging Het
Tbcd A G 11: 121,494,457 (GRCm39) Q1006R possibly damaging Het
Tenm4 G T 7: 96,552,054 (GRCm39) V2498F probably damaging Het
Tex2 T C 11: 106,458,161 (GRCm39) probably benign Het
Tkfc A T 19: 10,576,421 (GRCm39) L154Q probably damaging Het
Tmem62 A G 2: 120,817,343 (GRCm39) H257R probably damaging Het
Trpm2 T C 10: 77,768,013 (GRCm39) I829V probably benign Het
Ttc38 A G 15: 85,735,802 (GRCm39) probably null Het
Ttn A T 2: 76,548,757 (GRCm39) Y30135* probably null Het
Ttn A G 2: 76,810,477 (GRCm39) V17A probably benign Het
Ubqlnl A T 7: 103,797,890 (GRCm39) C536S probably benign Het
Vmn1r230 T A 17: 21,067,063 (GRCm39) M84K probably damaging Het
Vmn1r235 G A 17: 21,482,628 (GRCm39) V318I probably benign Het
Vmn2r76 T C 7: 85,879,692 (GRCm39) I203V probably benign Het
Vmn2r97 A T 17: 19,167,584 (GRCm39) R613* probably null Het
Zfp180 A G 7: 23,804,685 (GRCm39) H368R probably damaging Het
Zfp407 T C 18: 84,227,774 (GRCm39) D1945G possibly damaging Het
Zfyve27 G T 19: 42,160,170 (GRCm39) R62L 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
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
Predicted Primers PCR Primer
(F):5'- TCCCTGTAACCTGTTAAGACATTCAG -3'
(R):5'- CTCATTAAATACGCTCAGGAAACAG -3'

Sequencing Primer
(F):5'- CCTGTCTACAAAGTGAGTTCCAGG -3'
(R):5'- TACGCTCAGGAAACAGAATAAATG -3'
Posted On 2014-10-01