Incidental Mutation 'R1648:Slc39a12'
ID 173995
Institutional Source Beutler Lab
Gene Symbol Slc39a12
Ensembl Gene ENSMUSG00000036949
Gene Name solute carrier family 39 (zinc transporter), member 12
Synonyms LOC277468
MMRRC Submission 039684-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R1648 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 14393127-14499788 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14456803 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 597 (V597A)
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: V597A

PolyPhen 2 Score 0.243 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000080911
Gene: ENSMUSG00000036949
AA Change: V597A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Zip 364 681 1.8e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114731
AA Change: V561A

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000110379
Gene: ENSMUSG00000036949
AA Change: V561A

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: 99.1%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 95% (73/77)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,775,181 (GRCm39) N1457D probably benign Het
Adgb A G 10: 10,271,115 (GRCm39) F817L probably damaging Het
Akap6 A T 12: 53,188,789 (GRCm39) K2068* probably null Het
Alms1 T C 6: 85,655,384 (GRCm39) L3310P probably damaging Het
Ankrd27 T A 7: 35,303,278 (GRCm39) D219E probably benign Het
Atp10a T C 7: 58,434,575 (GRCm39) V283A probably damaging Het
Atp11a C T 8: 12,897,495 (GRCm39) S270L probably damaging Het
Casp3 T C 8: 47,091,109 (GRCm39) S254P probably benign Het
Cep104 G A 4: 154,063,553 (GRCm39) probably null Het
Cep170b C T 12: 112,702,806 (GRCm39) T423I probably damaging Het
Cfap58 A G 19: 47,943,844 (GRCm39) E348G probably benign Het
Chd6 A G 2: 160,883,978 (GRCm39) L89S probably damaging Het
Cyp2a22 T C 7: 26,631,793 (GRCm39) S488G probably damaging Het
D130040H23Rik C A 8: 69,755,633 (GRCm39) H363Q probably benign Het
Dcaf7 T A 11: 105,942,628 (GRCm39) F192I probably damaging Het
Ddx20 T C 3: 105,586,504 (GRCm39) I614V probably benign Het
Ehbp1 G A 11: 22,046,000 (GRCm39) T558I probably damaging Het
Eif2ak3 T A 6: 70,860,615 (GRCm39) V397D possibly damaging Het
Eif2b5 T C 16: 20,321,335 (GRCm39) V296A possibly damaging Het
Esr1 A G 10: 4,951,260 (GRCm39) E546G possibly damaging Het
Fras1 T A 5: 96,874,472 (GRCm39) probably null Het
G930045G22Rik T C 6: 50,823,698 (GRCm39) noncoding transcript Het
Gemin5 A T 11: 58,038,805 (GRCm39) L568* probably null Het
Gm22697+Rbm27 AGGTCCAGGCCCAGGCCCTGGTCCTGGCCCTGGCCCTGGTCCCGGCCCAGGCCC AGGTCCCGGCCCAGGCCC 18: 42,434,948 (GRCm39) probably benign Het
Gpr155 T C 2: 73,194,508 (GRCm39) probably null Het
Has1 A G 17: 18,070,247 (GRCm39) Y225H probably damaging Het
Hk3 A G 13: 55,162,274 (GRCm39) F110S probably damaging Het
Iars1 A G 13: 49,876,478 (GRCm39) K848E possibly damaging Het
Kif17 A G 4: 137,997,206 (GRCm39) Y43C probably damaging Het
Kif20b A T 19: 34,914,190 (GRCm39) T355S possibly damaging Het
Kif21a T C 15: 90,878,570 (GRCm39) T237A probably damaging Het
Klc1 T C 12: 111,743,321 (GRCm39) L216P probably damaging Het
Krt7 A C 15: 101,310,448 (GRCm39) S32R probably damaging Het
Lama3 A G 18: 12,665,256 (GRCm39) D2330G possibly damaging Het
Limch1 T A 5: 67,156,599 (GRCm39) S511R probably damaging Het
Luzp2 T A 7: 54,914,018 (GRCm39) probably null Het
Macc1 T C 12: 119,410,156 (GRCm39) M308T probably benign Het
Mroh9 T G 1: 162,873,625 (GRCm39) E510A probably damaging Het
Myo1h G T 5: 114,474,336 (GRCm39) L458F probably damaging Het
Neto1 A T 18: 86,518,179 (GRCm39) Y528F probably damaging Het
Nlrp9b T A 7: 19,760,469 (GRCm39) C187S possibly damaging Het
Nup160 T C 2: 90,540,432 (GRCm39) Y854H probably damaging Het
Odc1 T C 12: 17,598,538 (GRCm39) probably benign Het
Or10a3n A G 7: 108,492,972 (GRCm39) I214T probably damaging Het
Or51a10 A G 7: 103,699,376 (GRCm39) Y62H probably damaging Het
Or5an10 T A 19: 12,276,023 (GRCm39) I158L probably benign Het
Plcb2 A T 2: 118,554,261 (GRCm39) M64K possibly damaging Het
Plcxd3 A T 15: 4,405,291 (GRCm39) I33F probably benign Het
Postn A G 3: 54,283,522 (GRCm39) T534A probably damaging Het
Prkd2 T A 7: 16,591,732 (GRCm39) F588I possibly damaging Het
Prrg4 C A 2: 104,663,088 (GRCm39) A173S probably benign Het
Rinl C T 7: 28,497,057 (GRCm39) A519V probably damaging Het
Rpgrip1l A C 8: 91,979,517 (GRCm39) V975G probably damaging Het
Rps6ka4 C A 19: 6,816,730 (GRCm39) V118L probably benign Het
Rtkn T C 6: 83,112,975 (GRCm39) S16P probably damaging Het
Sbspon C A 1: 15,953,983 (GRCm39) R99L probably damaging Het
Sdf4 G A 4: 156,083,886 (GRCm39) A119T probably damaging Het
Sgpp1 T A 12: 75,762,990 (GRCm39) H397L possibly damaging Het
Shc2 T A 10: 79,461,945 (GRCm39) M367L probably benign Het
Slc26a5 T A 5: 22,018,974 (GRCm39) K590* probably null Het
Smcp A T 3: 92,491,788 (GRCm39) C20S unknown Het
Tdrd6 A C 17: 43,938,000 (GRCm39) V1016G possibly damaging Het
Tmem132c T A 5: 127,540,120 (GRCm39) probably benign Het
Tmem170b A T 13: 41,759,738 (GRCm39) Q16L probably null Het
Tmem30a A G 9: 79,700,311 (GRCm39) F61S probably damaging Het
Tnfsf13b T C 8: 10,081,534 (GRCm39) M232T probably damaging Het
Trip11 T A 12: 101,850,651 (GRCm39) K853* probably null Het
Tusc3 C A 8: 39,513,721 (GRCm39) S64* probably null Het
Vmn2r111 A T 17: 22,788,042 (GRCm39) D436E probably benign Het
Zfp607a T C 7: 27,578,493 (GRCm39) V521A probably benign Het
Zfp704 A T 3: 9,536,099 (GRCm39) S140R 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
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
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'- AGAACATGTCATAGACCTCCCTGGATG -3'
(R):5'- CTTTCTTGGATTCCACAGAGTGTTTGC -3'

Sequencing Primer
(F):5'- ATAGACCTCCCTGGATGAGTTATG -3'
(R):5'- TGGTGTCAGCATATCAAAACAG -3'
Posted On 2014-04-24