Incidental Mutation 'R5469:Slc30a3'
ID 433401
Institutional Source Beutler Lab
Gene Symbol Slc30a3
Ensembl Gene ENSMUSG00000029151
Gene Name solute carrier family 30 (zinc transporter), member 3
Synonyms Znt3
MMRRC Submission 043030-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.275) question?
Stock # R5469 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 31243450-31265581 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31246004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 193 (D193V)
Ref Sequence ENSEMBL: ENSMUSP00000144566 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031037] [ENSMUST00000200906] [ENSMUST00000201396] [ENSMUST00000201783] [ENSMUST00000202731] [ENSMUST00000202740]
AlphaFold P97441
Predicted Effect probably damaging
Transcript: ENSMUST00000031037
AA Change: D242V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031037
Gene: ENSMUSG00000029151
AA Change: D242V

DomainStartEndE-ValueType
low complexity region 36 48 N/A INTRINSIC
Pfam:Cation_efflux 76 293 7.6e-46 PFAM
Predicted Effect not run
Transcript: ENSMUST00000182444
AA Change: D193V
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 probably damaging
Transcript: ENSMUST00000202740
AA Change: D193V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144566
Gene: ENSMUSG00000029151
AA Change: D193V

DomainStartEndE-ValueType
Pfam:Cation_efflux 27 244 3e-46 PFAM
Coding Region Coverage
  • 1x: 98.2%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.4%
Validation Efficiency
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Allc A T 12: 28,605,305 (GRCm39) N331K probably benign Het
Anapc1 G T 2: 128,517,621 (GRCm39) S341* probably null Het
Cacna1e T C 1: 154,319,683 (GRCm39) E1339G probably damaging Het
Cacna2d1 T A 5: 16,557,676 (GRCm39) I702N probably damaging Het
Casp2 C A 6: 42,246,268 (GRCm39) H209N probably benign Het
Casr A G 16: 36,330,392 (GRCm39) V314A probably benign Het
Ccne2 A T 4: 11,201,353 (GRCm39) R294* probably null Het
Cd180 T A 13: 102,841,342 (GRCm39) H129Q probably benign Het
Chst10 A T 1: 38,904,608 (GRCm39) Y362N probably damaging Het
Ctnna1 T A 18: 35,372,573 (GRCm39) D509E probably benign Het
Ctsh G T 9: 89,942,564 (GRCm39) probably null Het
Dhx29 C T 13: 113,081,073 (GRCm39) A369V possibly damaging Het
Enox1 A G 14: 77,830,414 (GRCm39) T340A probably benign Het
Fam135b T A 15: 71,317,892 (GRCm39) T1357S probably benign Het
Flt3 A T 5: 147,291,893 (GRCm39) S544T possibly damaging Het
Gm12689 T C 4: 99,184,402 (GRCm39) I85T unknown Het
Gsap A T 5: 21,495,542 (GRCm39) Y831F possibly damaging Het
Hnrnpr C T 4: 136,046,745 (GRCm39) T142M probably damaging Het
Jak3 A G 8: 72,131,417 (GRCm39) D94G probably benign Het
Ktn1 A T 14: 47,928,377 (GRCm39) E579D probably damaging Het
Lama2 G A 10: 26,917,185 (GRCm39) P2247S possibly damaging Het
Lrba C T 3: 86,449,948 (GRCm39) S2089F probably damaging Het
Map1b C T 13: 99,565,846 (GRCm39) V2292M unknown Het
Mphosph10 A T 7: 64,039,193 (GRCm39) probably null Het
Pappa C T 4: 65,123,389 (GRCm39) T908M probably benign Het
Pdcd10 T A 3: 75,428,364 (GRCm39) K150* probably null Het
Piezo2 A T 18: 63,160,935 (GRCm39) I2275N probably damaging Het
Pmvk T C 3: 89,374,989 (GRCm39) probably null Het
Pold2 G A 11: 5,823,048 (GRCm39) P376S probably damaging Het
Prtg A T 9: 72,799,247 (GRCm39) Q759L probably damaging Het
Rad51ap1 C T 6: 126,905,190 (GRCm39) S107N probably damaging Het
Rfk T A 19: 17,372,566 (GRCm39) N29K probably damaging Het
Ror2 T C 13: 53,271,375 (GRCm39) M315V probably benign Het
Rrn3 A G 16: 13,630,964 (GRCm39) E600G probably benign Het
Ryk A G 9: 102,784,153 (GRCm39) Y593C possibly damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Srbd1 C A 17: 86,427,370 (GRCm39) C421F possibly damaging Het
Sstr5 A C 17: 25,711,043 (GRCm39) V62G probably damaging Het
Tfip11 G A 5: 112,482,191 (GRCm39) W483* probably null Het
Tlk1 T C 2: 70,552,012 (GRCm39) H553R probably benign Het
Tnc T C 4: 63,932,162 (GRCm39) probably null Het
Trav12-1 A G 14: 53,775,930 (GRCm39) T27A probably damaging Het
Usp9y G A Y: 1,364,714 (GRCm39) T1033I probably benign Het
V1ra8 C T 6: 90,180,186 (GRCm39) H130Y probably benign Het
Vmn2r77 A T 7: 86,451,271 (GRCm39) M386L probably benign Het
Other mutations in Slc30a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00803:Slc30a3 APN 5 31,245,388 (GRCm39) missense probably damaging 1.00
IGL01411:Slc30a3 APN 5 31,247,424 (GRCm39) missense probably benign 0.00
IGL02678:Slc30a3 APN 5 31,245,676 (GRCm39) nonsense probably null
R0606:Slc30a3 UTSW 5 31,246,067 (GRCm39) missense probably benign 0.02
R1173:Slc30a3 UTSW 5 31,244,154 (GRCm39) missense probably damaging 1.00
R1184:Slc30a3 UTSW 5 31,247,510 (GRCm39) missense probably damaging 1.00
R1924:Slc30a3 UTSW 5 31,245,748 (GRCm39) missense probably damaging 1.00
R2076:Slc30a3 UTSW 5 31,244,165 (GRCm39) nonsense probably null
R2432:Slc30a3 UTSW 5 31,246,038 (GRCm39) missense probably damaging 1.00
R3552:Slc30a3 UTSW 5 31,252,422 (GRCm39) intron probably benign
R4011:Slc30a3 UTSW 5 31,244,203 (GRCm39) missense probably damaging 1.00
R4731:Slc30a3 UTSW 5 31,250,638 (GRCm39) missense probably benign
R4956:Slc30a3 UTSW 5 31,244,247 (GRCm39) missense possibly damaging 0.92
R6364:Slc30a3 UTSW 5 31,246,083 (GRCm39) missense possibly damaging 0.90
R6799:Slc30a3 UTSW 5 31,246,958 (GRCm39) missense probably damaging 1.00
R7182:Slc30a3 UTSW 5 31,247,014 (GRCm39) missense probably damaging 1.00
R7182:Slc30a3 UTSW 5 31,244,169 (GRCm39) missense probably benign
R7195:Slc30a3 UTSW 5 31,246,139 (GRCm39) missense probably benign 0.04
R7260:Slc30a3 UTSW 5 31,245,690 (GRCm39) missense probably damaging 0.99
R8057:Slc30a3 UTSW 5 31,247,395 (GRCm39) splice site probably benign
R8836:Slc30a3 UTSW 5 31,250,668 (GRCm39) missense possibly damaging 0.91
R8855:Slc30a3 UTSW 5 31,245,325 (GRCm39) missense possibly damaging 0.62
R8866:Slc30a3 UTSW 5 31,245,325 (GRCm39) missense possibly damaging 0.62
R9193:Slc30a3 UTSW 5 31,246,088 (GRCm39) missense probably damaging 1.00
R9456:Slc30a3 UTSW 5 31,246,889 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- GGCTCTTCACAACCTGAAAGC -3'
(R):5'- CTTTCTGGGACGGGAAAGAG -3'

Sequencing Primer
(F):5'- TGAAAGCACCCTGGGACTCTTG -3'
(R):5'- GCCAAGAACAGGCCGTCTG -3'
Posted On 2016-10-06