Incidental Mutation 'R6169:Slc39a12'
ID 490284
Institutional Source Beutler Lab
Gene Symbol Slc39a12
Ensembl Gene ENSMUSG00000036949
Gene Name solute carrier family 39 (zinc transporter), member 12
Synonyms LOC277468
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R6169 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 14388316-14494977 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 14400233 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 212 (I212T)
Ref Sequence ENSEMBL: ENSMUSP00000110379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082290] [ENSMUST00000114731]
AlphaFold Q5FWH7
Predicted Effect possibly damaging
Transcript: ENSMUST00000082290
AA Change: I212T

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000080911
Gene: ENSMUSG00000036949
AA Change: I212T

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Zip 364 681 1.8e-65 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000114731
AA Change: I212T

PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110379
Gene: ENSMUSG00000036949
AA Change: I212T

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 94% (67/71)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik C A 11: 3,938,005 (GRCm38) C127F unknown Het
9930111J21Rik2 A T 11: 49,019,261 (GRCm38) probably null Het
Adamts16 A T 13: 70,770,274 (GRCm38) L676* probably null Het
Adgrv1 A T 13: 81,419,259 (GRCm38) V5265E probably benign Het
Afg3l2 G T 18: 67,421,259 (GRCm38) L458M probably damaging Het
Akap6 T A 12: 53,142,358 (GRCm38) M2185K probably benign Het
Ankfy1 G A 11: 72,754,459 (GRCm38) C788Y probably benign Het
Ankrd50 A G 3: 38,455,839 (GRCm38) V793A probably damaging Het
Arid2 T A 15: 96,368,677 (GRCm38) N535K probably benign Het
Atrnl1 A G 19: 57,642,463 (GRCm38) T221A probably benign Het
Bbof1 C T 12: 84,426,814 (GRCm38) T306I probably benign Het
Cabs1 C T 5: 87,979,754 (GRCm38) T88I possibly damaging Het
Ccdc60 C A 5: 116,137,072 (GRCm38) A351S probably benign Het
Cetn3 A C 13: 81,791,978 (GRCm38) R44S probably damaging Het
Cluap1 A G 16: 3,928,561 (GRCm38) K262R possibly damaging Het
Cnrip1 G A 11: 17,054,731 (GRCm38) V94I probably null Het
Cog6 A T 3: 53,007,301 (GRCm38) S245T probably benign Het
Disp2 T A 2: 118,791,550 (GRCm38) V921D probably damaging Het
Entrep2 G A 7: 64,759,399 (GRCm38) P416S probably benign Het
Ep400 T C 5: 110,741,997 (GRCm38) K504E possibly damaging Het
Fbn1 T A 2: 125,335,489 (GRCm38) probably null Het
Fyb2 T C 4: 105,000,516 (GRCm38) V630A probably benign Het
Gm43218 T A 6: 70,240,622 (GRCm38) Y50F probably benign Het
Gm5431 T C 11: 48,888,575 (GRCm38) T507A probably benign Het
Gucy2e G T 11: 69,236,104 (GRCm38) A181E probably benign Het
Hrnr C G 3: 93,325,755 (GRCm38) S1100* probably null Het
Htt T C 5: 34,907,473 (GRCm38) V3010A probably damaging Het
Ighv1-11 T C 12: 114,612,298 (GRCm38) Y99C probably damaging Het
Ighv1-12 T C 12: 114,615,957 (GRCm38) K25E possibly damaging Het
Il6ra A G 3: 89,871,291 (GRCm38) F417S probably benign Het
Itgb4 T C 11: 115,994,276 (GRCm38) S994P probably damaging Het
Itgbl1 G A 14: 123,660,378 (GRCm38) A24T probably benign Het
Itpr1 T C 6: 108,369,116 (GRCm38) F127L probably damaging Het
Itprid2 T G 2: 79,645,062 (GRCm38) I455R probably damaging Het
Krt86 A G 15: 101,476,289 (GRCm38) Y243C probably damaging Het
Lnx1 A T 5: 74,677,569 (GRCm38) W11R probably damaging Het
Mast4 A G 13: 102,787,421 (GRCm38) L302P probably damaging Het
Mettl3 A G 14: 52,298,757 (GRCm38) V210A possibly damaging Het
Mllt1 T C 17: 56,899,822 (GRCm38) T341A probably benign Het
Obscn T C 11: 59,000,499 (GRCm38) E7069G unknown Het
Or1e27-ps1 A T 11: 73,665,334 (GRCm38) T242S possibly damaging Het
Or52b4 T C 7: 102,535,272 (GRCm38) I175T probably benign Het
Osgep A G 14: 50,919,752 (GRCm38) V11A possibly damaging Het
Oxld1 G A 11: 120,456,849 (GRCm38) A174V possibly damaging Het
Pibf1 A T 14: 99,113,007 (GRCm38) E197V probably null Het
Pkn1 G A 8: 83,681,206 (GRCm38) Q425* probably null Het
Pramel22 T C 4: 143,654,115 (GRCm38) Y446C probably benign Het
Prss35 T C 9: 86,755,438 (GRCm38) I87T probably benign Het
Psmc3 T C 2: 91,057,839 (GRCm38) F304S probably damaging Het
Psmd11 T A 11: 80,460,713 (GRCm38) M254K probably damaging Het
Ralgapa2 T C 2: 146,450,465 (GRCm38) Y218C probably damaging Het
Sec23b C T 2: 144,586,974 (GRCm38) R701C probably damaging Het
Slc22a21 A G 11: 53,958,087 (GRCm38) S280P probably damaging Het
Slc7a12 T C 3: 14,497,328 (GRCm38) V255A probably damaging Het
Smc3 T A 19: 53,634,086 (GRCm38) N697K probably benign Het
Snai1 C A 2: 167,538,911 (GRCm38) P108Q probably benign Het
Stim2 T G 5: 54,118,679 (GRCm38) L732R probably damaging Het
Syde1 A G 10: 78,586,104 (GRCm38) L597S probably damaging Het
Tcte1 T A 17: 45,535,070 (GRCm38) M200K probably benign Het
Tenm2 T A 11: 36,139,690 (GRCm38) T761S probably damaging Het
Thoc2l T A 5: 104,518,396 (GRCm38) N261K probably benign Het
Tlr2 C A 3: 83,838,148 (GRCm38) E209D probably benign Het
Tpp2 T C 1: 43,983,579 (GRCm38) L33P probably damaging Het
Trmt1l C A 1: 151,428,953 (GRCm38) probably benign Het
Unc45a A C 7: 80,328,763 (GRCm38) S646A possibly damaging Het
Usp37 A T 1: 74,495,751 (GRCm38) I12N probably damaging Het
Vmn2r81 T C 10: 79,268,548 (GRCm38) V335A probably benign Het
Wwc2 A T 8: 47,858,843 (GRCm38) S762T unknown Het
Yeats2 A G 16: 20,219,667 (GRCm38) K129E probably damaging Het
Zscan4-ps2 T C 7: 11,517,631 (GRCm38) V198A probably benign Het
Other mutations in Slc39a12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00536:Slc39a12 APN 2 14,396,068 (GRCm38) splice site probably benign
IGL01597:Slc39a12 APN 2 14,434,309 (GRCm38) missense possibly damaging 0.95
IGL02516:Slc39a12 APN 2 14,400,335 (GRCm38) missense probably damaging 1.00
greenshoot UTSW 2 14,420,218 (GRCm38) missense probably damaging 1.00
sapling UTSW 2 14,435,678 (GRCm38) missense probably benign
Seedling UTSW 2 14,434,363 (GRCm38) splice site probably benign
stripling UTSW 2 14,400,331 (GRCm38) missense probably benign 0.00
R0068:Slc39a12 UTSW 2 14,435,678 (GRCm38) missense probably benign
R0068:Slc39a12 UTSW 2 14,435,678 (GRCm38) missense probably benign
R0453:Slc39a12 UTSW 2 14,435,681 (GRCm38) missense probably benign 0.04
R0533:Slc39a12 UTSW 2 14,400,331 (GRCm38) missense probably benign 0.00
R0718:Slc39a12 UTSW 2 14,407,426 (GRCm38) splice site probably benign
R1647:Slc39a12 UTSW 2 14,451,992 (GRCm38) missense probably benign 0.24
R1648:Slc39a12 UTSW 2 14,451,992 (GRCm38) missense probably benign 0.24
R1879:Slc39a12 UTSW 2 14,444,057 (GRCm38) missense probably benign
R1993:Slc39a12 UTSW 2 14,434,219 (GRCm38) missense probably damaging 0.98
R2429:Slc39a12 UTSW 2 14,405,086 (GRCm38) missense probably benign 0.06
R3746:Slc39a12 UTSW 2 14,396,067 (GRCm38) splice site probably benign
R3934:Slc39a12 UTSW 2 14,434,363 (GRCm38) splice site probably benign
R3941:Slc39a12 UTSW 2 14,396,181 (GRCm38) missense possibly damaging 0.95
R4008:Slc39a12 UTSW 2 14,452,117 (GRCm38) missense probably damaging 1.00
R4478:Slc39a12 UTSW 2 14,420,179 (GRCm38) nonsense probably null
R4622:Slc39a12 UTSW 2 14,400,325 (GRCm38) missense probably benign 0.11
R4760:Slc39a12 UTSW 2 14,400,323 (GRCm38) missense probably benign 0.14
R5477:Slc39a12 UTSW 2 14,389,382 (GRCm38) missense possibly damaging 0.46
R5566:Slc39a12 UTSW 2 14,407,603 (GRCm38) missense possibly damaging 0.80
R5725:Slc39a12 UTSW 2 14,389,264 (GRCm38) start gained probably benign
R5798:Slc39a12 UTSW 2 14,449,826 (GRCm38) missense probably damaging 1.00
R6074:Slc39a12 UTSW 2 14,407,479 (GRCm38) nonsense probably null
R6180:Slc39a12 UTSW 2 14,396,127 (GRCm38) missense probably benign 0.38
R6802:Slc39a12 UTSW 2 14,420,085 (GRCm38) missense probably benign 0.28
R6847:Slc39a12 UTSW 2 14,449,917 (GRCm38) missense probably damaging 1.00
R6899:Slc39a12 UTSW 2 14,389,541 (GRCm38) missense probably damaging 1.00
R6931:Slc39a12 UTSW 2 14,389,375 (GRCm38) missense probably benign 0.04
R7131:Slc39a12 UTSW 2 14,449,803 (GRCm38) missense probably damaging 1.00
R7343:Slc39a12 UTSW 2 14,452,000 (GRCm38) missense probably damaging 1.00
R7525:Slc39a12 UTSW 2 14,494,461 (GRCm38) missense probably benign 0.01
R7568:Slc39a12 UTSW 2 14,400,128 (GRCm38) splice site probably null
R7684:Slc39a12 UTSW 2 14,449,859 (GRCm38) missense probably damaging 0.99
R7761:Slc39a12 UTSW 2 14,434,330 (GRCm38) missense probably benign 0.01
R7785:Slc39a12 UTSW 2 14,420,218 (GRCm38) missense probably damaging 1.00
R8725:Slc39a12 UTSW 2 14,449,859 (GRCm38) missense probably damaging 0.99
R9199:Slc39a12 UTSW 2 14,389,510 (GRCm38) missense possibly damaging 0.69
R9280:Slc39a12 UTSW 2 14,396,192 (GRCm38) missense probably benign 0.04
R9571:Slc39a12 UTSW 2 14,407,569 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGTGTTTCCCAAATCCAGTTTC -3'
(R):5'- TTTCTGGCACAATCAATCAGACAG -3'

Sequencing Primer
(F):5'- TAGTAGAGTGATGGCATCATGC -3'
(R):5'- TCAATCAGACAGATGTGACTTGG -3'
Posted On 2017-10-10