Incidental Mutation 'R7568:Slc39a12'
ID 586020
Institutional Source Beutler Lab
Gene Symbol Slc39a12
Ensembl Gene ENSMUSG00000036949
Gene Name solute carrier family 39 (zinc transporter), member 12
Synonyms LOC277468
MMRRC Submission 045630-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R7568 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 14393127-14499788 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 14404939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082290] [ENSMUST00000114731]
AlphaFold Q5FWH7
Predicted Effect probably null
Transcript: ENSMUST00000082290
SMART Domains Protein: ENSMUSP00000080911
Gene: ENSMUSG00000036949

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Zip 364 681 1.8e-65 PFAM
Predicted Effect probably null
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 T A 13: 111,391,956 (GRCm39) V97E possibly damaging Het
Actl7a A T 4: 56,744,498 (GRCm39) T342S probably damaging Het
Alcam A G 16: 52,088,749 (GRCm39) S554P probably damaging Het
Ano3 T C 2: 110,780,638 (GRCm39) probably benign Het
Atad2b T A 12: 5,060,390 (GRCm39) probably null Het
Baz2a T C 10: 127,961,139 (GRCm39) S1621P possibly damaging Het
BC028528 CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT 3: 95,795,448 (GRCm39) probably benign Het
BC028528 GGTTCTGTGGTCACT GGTTCTGTGGTCACTAGTTCTGTGGTCACT 3: 95,795,484 (GRCm39) probably benign Het
BC028528 GTCACTGGTTCTGTGGTCACTGGTTCTGTG GTCACTGGTTCTGTGATCACTGGTTCTGTGGTCACTGGTTCTGTG 3: 95,795,463 (GRCm39) probably benign Het
Best1 T A 19: 9,966,639 (GRCm39) probably null Het
Catip G T 1: 74,408,089 (GRCm39) E474* probably null Het
Comp A G 8: 70,826,509 (GRCm39) D28G probably benign Het
Crebbp G A 16: 3,944,353 (GRCm39) R600W probably benign Het
Cyfip1 A G 7: 55,521,997 (GRCm39) probably null Het
Ddr1 A G 17: 35,995,174 (GRCm39) S675P probably damaging Het
Dhtkd1 A T 2: 5,926,898 (GRCm39) probably null Het
F2rl1 G A 13: 95,650,522 (GRCm39) A120V probably damaging Het
Fam136a A G 6: 86,342,784 (GRCm39) N24D probably benign Het
Fbxw10 C A 11: 62,765,994 (GRCm39) Q755K probably benign Het
Fbxw16 C A 9: 109,268,657 (GRCm39) Q244H possibly damaging Het
Gabrg2 T C 11: 41,807,119 (GRCm39) K373E probably benign Het
Herc3 G A 6: 58,820,795 (GRCm39) V60I probably benign Het
Igkv19-93 T A 6: 68,713,477 (GRCm39) K51* probably null Het
Krt23 T A 11: 99,383,626 (GRCm39) K89* probably null Het
Mavs A G 2: 131,087,395 (GRCm39) T298A probably benign Het
Mlec T C 5: 115,288,181 (GRCm39) Y198C probably damaging Het
Ncam2 C A 16: 81,386,689 (GRCm39) N689K probably benign Het
Nfkbia A G 12: 55,538,546 (GRCm39) I82T probably damaging Het
Or12d14-ps1 A G 17: 37,673,496 (GRCm39) I163V probably benign Het
Or12j2 A G 7: 139,915,895 (GRCm39) N40S probably damaging Het
Or7a35 A T 10: 78,853,341 (GRCm39) I62F probably benign Het
Or8b43 A G 9: 38,360,942 (GRCm39) Y258C probably damaging Het
Pom121l2 A T 13: 22,166,796 (GRCm39) I356F probably benign Het
Ppip5k1 A T 2: 121,168,096 (GRCm39) L719Q probably damaging Het
Satb1 A T 17: 52,089,752 (GRCm39) V365D possibly damaging Het
Scrn2 T C 11: 96,921,712 (GRCm39) Y61H probably damaging Het
Siglec1 C T 2: 130,914,602 (GRCm39) V1505M probably damaging Het
Slc2a10 A G 2: 165,356,802 (GRCm39) N154S probably damaging Het
Slc39a10 A T 1: 46,874,290 (GRCm39) H337Q probably benign Het
Slc6a6 T G 6: 91,701,832 (GRCm39) L80R probably damaging Het
Slit1 T C 19: 41,590,074 (GRCm39) Y1404C probably damaging Het
Sowahc A G 10: 59,059,121 (GRCm39) E419G probably damaging Het
Ssh1 T C 5: 114,095,441 (GRCm39) probably null Het
Stab1 C A 14: 30,874,552 (GRCm39) C952F probably damaging Het
Stat5a T C 11: 100,765,850 (GRCm39) M312T possibly damaging Het
Tex2 A G 11: 106,439,562 (GRCm39) I606T unknown Het
Tex55 T C 16: 38,648,809 (GRCm39) E100G possibly damaging Het
Vmn1r19 A G 6: 57,381,813 (GRCm39) H122R possibly damaging Het
Zfp959 A G 17: 56,204,886 (GRCm39) I308V probably benign 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
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
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'- GATGCAAGCTATGAGTGGGC -3'
(R):5'- CTGTAAAATCATCTGGAGAAGGC -3'

Sequencing Primer
(F):5'- AGTGGGCATGCACTTCAG -3'
(R):5'- GAGAAGGCAAGGCTTTTCTTCCC -3'
Posted On 2019-10-18