Incidental Mutation 'R2432:Slc30a3'
ID250438
Institutional Source Beutler Lab
Gene Symbol Slc30a3
Ensembl Gene ENSMUSG00000029151
Gene Namesolute carrier family 30 (zinc transporter), member 3
SynonymsZnt3
MMRRC Submission 040393-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.250) question?
Stock #R2432 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location31086106-31108237 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 31088694 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 231 (S231G)
Ref Sequence ENSEMBL: ENSMUSP00000031037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031037] [ENSMUST00000200906] [ENSMUST00000201396] [ENSMUST00000201783] [ENSMUST00000202731] [ENSMUST00000202740]
Predicted Effect probably damaging
Transcript: ENSMUST00000031037
AA Change: S231G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031037
Gene: ENSMUSG00000029151
AA Change: S231G

DomainStartEndE-ValueType
low complexity region 36 48 N/A INTRINSIC
Pfam:Cation_efflux 76 293 7.6e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000200906
SMART Domains Protein: ENSMUSP00000144098
Gene: ENSMUSG00000029151

DomainStartEndE-ValueType
low complexity region 19 36 N/A INTRINSIC
Pfam:Cation_efflux 64 173 2e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201396
SMART Domains Protein: ENSMUSP00000144295
Gene: ENSMUSG00000029151

DomainStartEndE-ValueType
Pfam:Cation_efflux 27 124 1.1e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201783
Predicted Effect probably benign
Transcript: ENSMUST00000202731
SMART Domains Protein: ENSMUSP00000144574
Gene: ENSMUSG00000029151

DomainStartEndE-ValueType
low complexity region 50 58 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000202740
AA Change: S182G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000144566
Gene: ENSMUSG00000029151
AA Change: S182G

DomainStartEndE-ValueType
Pfam:Cation_efflux 27 244 3e-46 PFAM
Meta Mutation Damage Score 0.4312 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (53/53)
MGI Phenotype PHENOTYPE: While zinc is absent from synaptic vesicles in homozygous null mice, inactivation of this locus does not affect brain morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,451,333 probably benign Het
Adamts6 A T 13: 104,426,977 Y659F probably benign Het
Adamts9 C A 6: 92,857,900 G750W probably damaging Het
Adgrv1 GA GAA 13: 81,540,132 probably null Het
Aspscr1 A G 11: 120,702,566 probably benign Het
Calr3 A G 8: 72,438,426 probably benign Het
Cpt2 A T 4: 107,904,526 Y126* probably null Het
Cyp2d34 A G 15: 82,619,011 L94P probably damaging Het
Def6 A T 17: 28,228,069 D558V probably benign Het
Dnase1l2 G A 17: 24,442,725 T20I possibly damaging Het
Eif5b A G 1: 38,019,342 K242E unknown Het
Golim4 T C 3: 75,891,942 N478S possibly damaging Het
Helb A T 10: 120,105,537 D415E probably benign Het
Ifna12 T A 4: 88,603,353 probably benign Het
Jhy T A 9: 40,960,886 H109L probably benign Het
Krt83 A T 15: 101,488,156 Y241* probably null Het
Macf1 G T 4: 123,683,996 A65E probably damaging Het
Mug2 C A 6: 122,084,376 N1418K possibly damaging Het
Myo1f A G 17: 33,575,849 D21G probably damaging Het
Myo5a T A 9: 75,212,873 I1651N possibly damaging Het
Notch3 A T 17: 32,153,804 C598S probably damaging Het
Npat A T 9: 53,558,135 H307L probably damaging Het
Nr1h2 T C 7: 44,551,367 Q279R possibly damaging Het
Olfr1302 T C 2: 111,780,671 V117A probably benign Het
Olfr804 A G 10: 129,704,925 T16A possibly damaging Het
Pcdhb16 A T 18: 37,479,930 N648Y probably damaging Het
Pdzrn3 G T 6: 101,150,791 S971R probably damaging Het
Plch2 A G 4: 154,986,164 *494Q probably null Het
Plekhg4 T A 8: 105,381,836 D1170E probably benign Het
Plekhm3 A G 1: 64,937,856 S152P probably damaging Het
Ppargc1b G A 18: 61,307,799 P683S possibly damaging Het
Prdm12 T G 2: 31,651,852 M191R probably benign Het
Prdm14 T C 1: 13,125,633 D68G probably benign Het
Prp2 C T 6: 132,599,911 P54S unknown Het
Prpf4b A G 13: 34,883,341 probably benign Het
Ptprk T A 10: 28,592,844 V1408E probably damaging Het
Rap1gds1 A G 3: 138,956,250 M415T probably damaging Het
Rps6ka5 A G 12: 100,554,405 F621S probably damaging Het
Rrm1 T A 7: 102,443,072 D35E probably benign Het
Rxfp3 T C 15: 11,036,140 H382R probably damaging Het
Slc11a1 A G 1: 74,383,751 probably benign Het
Slc25a13 A T 6: 6,114,017 M285K probably benign Het
Slc44a2 A T 9: 21,344,834 I274F probably damaging Het
Tas2r119 A G 15: 32,178,019 I244V possibly damaging Het
Tenm2 C A 11: 36,027,191 R1914L probably damaging Het
Tfdp2 T C 9: 96,310,590 M242T probably damaging Het
Tmprss6 A G 15: 78,465,104 probably benign Het
Ttc6 C T 12: 57,622,035 P421L possibly damaging Het
Usp16 T A 16: 87,466,358 probably null Het
Usp40 T C 1: 87,982,082 E550G probably benign Het
Vmn2r28 T C 7: 5,488,702 Y182C probably damaging Het
Zfp382 A G 7: 30,133,749 D275G probably benign Het
Other mutations in Slc30a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00803:Slc30a3 APN 5 31088044 missense probably damaging 1.00
IGL01411:Slc30a3 APN 5 31090080 missense probably benign 0.00
IGL02678:Slc30a3 APN 5 31088332 nonsense probably null
R0606:Slc30a3 UTSW 5 31088723 missense probably benign 0.02
R1173:Slc30a3 UTSW 5 31086810 missense probably damaging 1.00
R1184:Slc30a3 UTSW 5 31090166 missense probably damaging 1.00
R1924:Slc30a3 UTSW 5 31088404 missense probably damaging 1.00
R2076:Slc30a3 UTSW 5 31086821 nonsense probably null
R3552:Slc30a3 UTSW 5 31095078 intron probably benign
R4011:Slc30a3 UTSW 5 31086859 missense probably damaging 1.00
R4731:Slc30a3 UTSW 5 31093294 missense probably benign
R4956:Slc30a3 UTSW 5 31086903 missense possibly damaging 0.92
R5469:Slc30a3 UTSW 5 31088660 missense probably damaging 1.00
R6364:Slc30a3 UTSW 5 31088739 missense possibly damaging 0.90
R6799:Slc30a3 UTSW 5 31089614 missense probably damaging 1.00
R7182:Slc30a3 UTSW 5 31086825 missense probably benign
R7182:Slc30a3 UTSW 5 31089670 missense probably damaging 1.00
R7195:Slc30a3 UTSW 5 31088795 missense probably benign 0.04
R7260:Slc30a3 UTSW 5 31088346 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AAAGCACCCTGGGACTCTTG -3'
(R):5'- TCTTTCTGGGACGGGAAAGAGG -3'

Sequencing Primer
(F):5'- CCAAAGCTAGGAGAGGCCCTG -3'
(R):5'- AGAGGTGGAGGTGGGTACTG -3'
Posted On2014-11-12