Incidental Mutation 'R0068:Slc39a12'
ID 64405
Institutional Source Beutler Lab
Gene Symbol Slc39a12
Ensembl Gene ENSMUSG00000036949
Gene Name solute carrier family 39 (zinc transporter), member 12
Synonyms LOC277468
MMRRC Submission 038359-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R0068 (G1)
Quality Score 158
Status Validated
Chromosome 2
Chromosomal Location 14393127-14499788 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 14440489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 480 (E480G)
Ref Sequence ENSEMBL: ENSMUSP00000080911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082290] [ENSMUST00000114731]
AlphaFold Q5FWH7
Predicted Effect probably benign
Transcript: ENSMUST00000082290
AA Change: E480G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000080911
Gene: ENSMUSG00000036949
AA Change: E480G

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Zip 364 681 1.8e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114731
SMART Domains Protein: ENSMUSP00000110379
Gene: ENSMUSG00000036949

DomainStartEndE-ValueType
signal peptide 1 39 N/A INTRINSIC
Pfam:Zip 382 511 2.5e-17 PFAM
Pfam:Zip 492 661 1.5e-41 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 92.6%
Validation Efficiency 99% (72/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A12 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Aug 2008]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,073,708 (GRCm39) T1448A probably damaging Het
Aldoart2 G T 12: 55,612,233 (GRCm39) E53* probably null Het
Ankra2 C T 13: 98,409,891 (GRCm39) Q137* probably null Het
Arpc1a C T 5: 145,028,054 (GRCm39) T21I possibly damaging Het
Arvcf T C 16: 18,214,819 (GRCm39) probably benign Het
Ash1l C A 3: 88,914,624 (GRCm39) S1751R probably benign Het
Bltp1 A G 3: 37,006,370 (GRCm39) T1675A probably benign Het
Bsn C A 9: 107,989,336 (GRCm39) G2139C probably damaging Het
Ccdc148 T C 2: 58,717,629 (GRCm39) E530G probably benign Het
Cct3 A G 3: 88,225,772 (GRCm39) D365G probably benign Het
Chd2 A T 7: 73,134,282 (GRCm39) S688R probably damaging Het
Crispld1 A G 1: 17,823,212 (GRCm39) T398A possibly damaging Het
Ctbp2 A C 7: 132,591,788 (GRCm39) V906G possibly damaging Het
Cwf19l1 A T 19: 44,119,938 (GRCm39) Y68N probably damaging Het
Dlc1 T A 8: 37,404,875 (GRCm39) M305L probably benign Het
Dnm1l C A 16: 16,141,883 (GRCm39) G288C probably damaging Het
Efcab3 T C 11: 104,611,648 (GRCm39) S497P probably benign Het
Fignl2 A T 15: 100,952,129 (GRCm39) I51N probably damaging Het
Flnb A G 14: 7,915,290 (GRCm38) N1474D possibly damaging Het
Ghrhr C T 6: 55,357,849 (GRCm39) probably benign Het
Hltf G A 3: 20,113,254 (GRCm39) R9H probably damaging Het
Hps5 A G 7: 46,426,466 (GRCm39) probably benign Het
Itpr3 T C 17: 27,323,034 (GRCm39) probably benign Het
Kansl1l A G 1: 66,760,047 (GRCm39) V911A probably benign Het
Kdm3b C T 18: 34,957,827 (GRCm39) T1064I probably benign Het
Lrriq1 T A 10: 102,899,279 (GRCm39) Q1654L probably benign Het
Ltbp1 A G 17: 75,666,404 (GRCm39) T1366A probably damaging Het
Mroh1 A G 15: 76,330,892 (GRCm39) probably benign Het
Mroh2a GT GTT 1: 88,183,888 (GRCm39) probably null Het
Napb G A 2: 148,540,843 (GRCm39) probably benign Het
Npc1 G C 18: 12,341,424 (GRCm39) P532A probably benign Het
Nrp2 G T 1: 62,784,536 (GRCm39) K228N possibly damaging Het
Or13f5 T A 4: 52,825,503 (GRCm39) Y35* probably null Het
Plekhg1 A T 10: 3,890,504 (GRCm39) K241* probably null Het
Poln T C 5: 34,234,432 (GRCm39) probably benign Het
Ppil1 A T 17: 29,471,230 (GRCm39) F92I probably damaging Het
Ppp1r9b T G 11: 94,892,046 (GRCm39) F154V probably damaging Het
Ptchd3 T G 11: 121,733,798 (GRCm39) L896R probably damaging Het
Rev3l A G 10: 39,700,827 (GRCm39) N1775D possibly damaging Het
Rusc2 T C 4: 43,424,100 (GRCm39) probably benign Het
Selenbp2 T C 3: 94,610,816 (GRCm39) V294A probably benign Het
Slc25a48 T C 13: 56,599,024 (GRCm39) V118A probably damaging Het
Slc38a10 T C 11: 120,025,679 (GRCm39) D219G probably damaging Het
Slc38a2 C T 15: 96,589,173 (GRCm39) probably null Het
Tab2 C A 10: 7,795,441 (GRCm39) R347L probably damaging Het
Tas2r123 T C 6: 132,824,955 (GRCm39) I284T possibly damaging Het
Tnks1bp1 T A 2: 84,892,696 (GRCm39) D212E probably benign Het
Trim67 T C 8: 125,521,307 (GRCm39) V223A probably damaging Het
Ugcg A G 4: 59,217,130 (GRCm39) D218G probably benign Het
Vmn2r59 A G 7: 41,695,725 (GRCm39) L229S probably damaging Het
Zfp451 A T 1: 33,816,706 (GRCm39) L198I probably damaging Het
Other mutations in Slc39a12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00536:Slc39a12 APN 2 14,400,879 (GRCm39) splice site probably benign
IGL01597:Slc39a12 APN 2 14,439,120 (GRCm39) missense possibly damaging 0.95
IGL02516:Slc39a12 APN 2 14,405,146 (GRCm39) missense probably damaging 1.00
greenshoot UTSW 2 14,425,029 (GRCm39) missense probably damaging 1.00
sapling UTSW 2 14,440,489 (GRCm39) missense probably benign
Seedling UTSW 2 14,439,174 (GRCm39) splice site probably benign
stripling UTSW 2 14,405,142 (GRCm39) missense probably benign 0.00
R0068:Slc39a12 UTSW 2 14,440,489 (GRCm39) missense probably benign
R0453:Slc39a12 UTSW 2 14,440,492 (GRCm39) missense probably benign 0.04
R0533:Slc39a12 UTSW 2 14,405,142 (GRCm39) missense probably benign 0.00
R0718:Slc39a12 UTSW 2 14,412,237 (GRCm39) splice site probably benign
R1647:Slc39a12 UTSW 2 14,456,803 (GRCm39) missense probably benign 0.24
R1648:Slc39a12 UTSW 2 14,456,803 (GRCm39) missense probably benign 0.24
R1879:Slc39a12 UTSW 2 14,448,868 (GRCm39) missense probably benign
R1993:Slc39a12 UTSW 2 14,439,030 (GRCm39) missense probably damaging 0.98
R2429:Slc39a12 UTSW 2 14,409,897 (GRCm39) missense probably benign 0.06
R3746:Slc39a12 UTSW 2 14,400,878 (GRCm39) splice site probably benign
R3934:Slc39a12 UTSW 2 14,439,174 (GRCm39) splice site probably benign
R3941:Slc39a12 UTSW 2 14,400,992 (GRCm39) missense possibly damaging 0.95
R4008:Slc39a12 UTSW 2 14,456,928 (GRCm39) missense probably damaging 1.00
R4478:Slc39a12 UTSW 2 14,424,990 (GRCm39) nonsense probably null
R4622:Slc39a12 UTSW 2 14,405,136 (GRCm39) missense probably benign 0.11
R4760:Slc39a12 UTSW 2 14,405,134 (GRCm39) missense probably benign 0.14
R5477:Slc39a12 UTSW 2 14,394,193 (GRCm39) missense possibly damaging 0.46
R5566:Slc39a12 UTSW 2 14,412,414 (GRCm39) missense possibly damaging 0.80
R5725:Slc39a12 UTSW 2 14,394,075 (GRCm39) start gained probably benign
R5798:Slc39a12 UTSW 2 14,454,637 (GRCm39) missense probably damaging 1.00
R6074:Slc39a12 UTSW 2 14,412,290 (GRCm39) nonsense probably null
R6169:Slc39a12 UTSW 2 14,405,044 (GRCm39) missense possibly damaging 0.64
R6180:Slc39a12 UTSW 2 14,400,938 (GRCm39) missense probably benign 0.38
R6802:Slc39a12 UTSW 2 14,424,896 (GRCm39) missense probably benign 0.28
R6847:Slc39a12 UTSW 2 14,454,728 (GRCm39) missense probably damaging 1.00
R6899:Slc39a12 UTSW 2 14,394,352 (GRCm39) missense probably damaging 1.00
R6931:Slc39a12 UTSW 2 14,394,186 (GRCm39) missense probably benign 0.04
R7131:Slc39a12 UTSW 2 14,454,614 (GRCm39) missense probably damaging 1.00
R7343:Slc39a12 UTSW 2 14,456,811 (GRCm39) missense probably damaging 1.00
R7525:Slc39a12 UTSW 2 14,499,272 (GRCm39) missense probably benign 0.01
R7568:Slc39a12 UTSW 2 14,404,939 (GRCm39) splice site probably null
R7684:Slc39a12 UTSW 2 14,454,670 (GRCm39) missense probably damaging 0.99
R7761:Slc39a12 UTSW 2 14,439,141 (GRCm39) missense probably benign 0.01
R7785:Slc39a12 UTSW 2 14,425,029 (GRCm39) missense probably damaging 1.00
R8725:Slc39a12 UTSW 2 14,454,670 (GRCm39) missense probably damaging 0.99
R9199:Slc39a12 UTSW 2 14,394,321 (GRCm39) missense possibly damaging 0.69
R9280:Slc39a12 UTSW 2 14,401,003 (GRCm39) missense probably benign 0.04
R9571:Slc39a12 UTSW 2 14,412,380 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AAGCTACCTTCATTTCAGCCTCTTTCAA -3'
(R):5'- GCGAAAGTTTCTCAACAGCTTTTCTCA -3'

Sequencing Primer
(F):5'- AGCCTCTTTCAATCATAGCTAGAC -3'
(R):5'- TTCTCATGGTCAAGAGCAAGC -3'
Posted On 2013-08-06