Incidental Mutation 'R4622:Slc39a12'
ID 346206
Institutional Source Beutler Lab
Gene Symbol Slc39a12
Ensembl Gene ENSMUSG00000036949
Gene Name solute carrier family 39 (zinc transporter), member 12
Synonyms LOC277468
MMRRC Submission 041887-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R4622 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 14393127-14499788 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 14405136 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 243 (T243S)
Ref Sequence ENSEMBL: ENSMUSP00000110379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082290] [ENSMUST00000114731]
AlphaFold Q5FWH7
Predicted Effect probably benign
Transcript: ENSMUST00000082290
AA Change: T243S

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000080911
Gene: ENSMUSG00000036949
AA Change: T243S

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: T243S

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000110379
Gene: ENSMUSG00000036949
AA Change: T243S

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 0.0809 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 98% (107/109)
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A T 3: 59,914,474 (GRCm39) N26Y probably damaging Het
Aass C T 6: 23,092,329 (GRCm39) D194N probably damaging Het
Acp7 T C 7: 28,313,822 (GRCm39) Y404C probably damaging Het
Acsl1 A T 8: 46,979,410 (GRCm39) I421L probably benign Het
Adgrb3 A T 1: 25,865,569 (GRCm39) D91E probably damaging Het
Adgrg3 T C 8: 95,767,153 (GRCm39) S503P probably damaging Het
Adgrg6 A T 10: 14,317,243 (GRCm39) C526S probably damaging Het
Arhgap32 A T 9: 32,150,644 (GRCm39) I15F possibly damaging Het
Arid1b G T 17: 5,045,325 (GRCm39) probably benign Het
Asnsd1 A G 1: 53,387,378 (GRCm39) V83A probably benign Het
Atg101 A G 15: 101,191,213 (GRCm39) probably benign Het
Atp8a1 T C 5: 67,840,056 (GRCm39) probably benign Het
Aurkb T A 11: 68,939,188 (GRCm39) L137Q probably damaging Het
AY702103 A T 17: 50,547,029 (GRCm39) noncoding transcript Het
B3gnt9 A G 8: 105,980,477 (GRCm39) S304P probably benign Het
Babam2 T C 5: 32,164,656 (GRCm39) V310A probably damaging Het
Batf A G 12: 85,755,327 (GRCm39) D60G possibly damaging Het
Baz1a A T 12: 54,988,300 (GRCm39) I283K probably benign Het
Bmerb1 A C 16: 13,911,786 (GRCm39) E44A possibly damaging Het
Bst1 T G 5: 43,976,261 (GRCm39) probably benign Het
C2 C A 17: 35,082,650 (GRCm39) V490L probably damaging Het
Cacna1e T C 1: 154,347,311 (GRCm39) E952G possibly damaging Het
Ccnyl1 A G 1: 64,757,417 (GRCm39) D262G probably damaging Het
Cdc42bpa A T 1: 179,902,223 (GRCm39) K493N probably damaging Het
Cenpe A G 3: 134,949,469 (GRCm39) T85A probably benign Het
Ces2e T A 8: 105,655,341 (GRCm39) probably null Het
Chd3 T A 11: 69,239,834 (GRCm39) R1665W probably damaging Het
Cpm A G 10: 117,506,202 (GRCm39) N188D possibly damaging Het
Cspg4b A G 13: 113,456,615 (GRCm39) D887G probably benign Het
Ctnnd2 A T 15: 30,887,315 (GRCm39) M781L probably benign Het
Ctnnd2 A G 15: 31,009,259 (GRCm39) T1094A probably benign Het
Cux1 T C 5: 136,337,154 (GRCm39) K657R probably damaging Het
Ddx54 G A 5: 120,764,488 (GRCm39) V732M probably damaging Het
Ecrg4 G T 1: 43,781,481 (GRCm39) R121L possibly damaging Het
Efna5 T C 17: 62,958,040 (GRCm39) D72G probably benign Het
Eva1c T A 16: 90,694,343 (GRCm39) probably null Het
Evi5l T C 8: 4,252,909 (GRCm39) probably benign Het
Fasl A G 1: 161,614,703 (GRCm39) L120P probably benign Het
H2-M9 A T 17: 36,952,716 (GRCm39) probably null Het
Hdgf C A 3: 87,821,884 (GRCm39) N198K possibly damaging Het
Hspa9 A T 18: 35,082,090 (GRCm39) M172K possibly damaging Het
Il1r1 A C 1: 40,351,580 (GRCm39) L406F probably damaging Het
Il31 T C 5: 123,618,498 (GRCm39) D96G probably damaging Het
Inhbc A G 10: 127,193,146 (GRCm39) I290T probably benign Het
Lrp2 A T 2: 69,290,693 (GRCm39) V3589D possibly damaging Het
Lrrc14 A T 15: 76,600,540 (GRCm39) probably benign Het
Lyst G A 13: 13,848,983 (GRCm39) A2057T probably benign Het
Macf1 A G 4: 123,266,141 (GRCm39) probably null Het
Mapk10 C A 5: 103,137,590 (GRCm39) G209V probably damaging Het
Mcoln1 A G 8: 3,555,923 (GRCm39) I73V probably damaging Het
Met G T 6: 17,513,383 (GRCm39) R411L probably benign Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mrpl4 G A 9: 20,918,793 (GRCm39) R176Q probably damaging Het
Mrtfb G A 16: 13,150,570 (GRCm39) G102D probably damaging Het
Mtmr3 T C 11: 4,441,067 (GRCm39) T528A possibly damaging Het
Mtmr7 A T 8: 41,034,583 (GRCm39) N246K probably damaging Het
Mycbp2 G T 14: 103,457,415 (GRCm39) T1627K probably benign Het
Necab3 A G 2: 154,397,502 (GRCm39) probably null Het
Nr1d1 C T 11: 98,660,710 (GRCm39) C419Y probably damaging Het
Nwd1 C A 8: 73,393,928 (GRCm39) A397E probably damaging Het
Oas1f A T 5: 120,986,390 (GRCm39) K114N probably damaging Het
Or13a18 T A 7: 140,190,611 (GRCm39) C169* probably null Het
Or1e35 C A 11: 73,797,737 (GRCm39) V194F possibly damaging Het
Or51ab3 G T 7: 103,201,361 (GRCm39) R123L probably benign Het
Or5k8 A T 16: 58,644,469 (GRCm39) I201N possibly damaging Het
Or5w13 T A 2: 87,523,987 (GRCm39) K80* probably null Het
Osbpl8 T C 10: 111,127,357 (GRCm39) S814P probably benign Het
Pcdhgb7 A T 18: 37,886,183 (GRCm39) Q451L probably benign Het
Pde7b C T 10: 20,294,538 (GRCm39) R300Q probably damaging Het
Pgghg A G 7: 140,521,409 (GRCm39) probably null Het
Plcg1 A G 2: 160,589,688 (GRCm39) probably benign Het
Plxna2 A T 1: 194,494,458 (GRCm39) I1892L probably benign Het
Ppt2 A G 17: 34,844,875 (GRCm39) V123A probably benign Het
Prdx5 G T 19: 6,884,341 (GRCm39) probably benign Het
Prpf40b A G 15: 99,214,197 (GRCm39) D819G probably benign Het
Prss3l A T 6: 41,422,246 (GRCm39) I53N probably damaging Het
Psap T G 10: 60,136,630 (GRCm39) C536W probably damaging Het
Rab3gap1 T C 1: 127,870,156 (GRCm39) C919R probably benign Het
Racgap1 C A 15: 99,524,087 (GRCm39) S440I probably benign Het
Rec8 C T 14: 55,862,215 (GRCm39) R480C probably damaging Het
Reg3d A G 6: 78,354,442 (GRCm39) L53S probably benign Het
Rnft2 T A 5: 118,370,471 (GRCm39) S244C probably damaging Het
Scn2a T C 2: 65,582,371 (GRCm39) V1573A probably benign Het
Selenoo G T 15: 88,979,910 (GRCm39) G353* probably null Het
Siva1 A G 12: 112,611,501 (GRCm39) Y34C probably damaging Het
Slc2a4 C T 11: 69,835,600 (GRCm39) probably benign Het
Slc9b2 T C 3: 135,038,279 (GRCm39) I453T probably damaging Het
Spag17 A G 3: 100,010,559 (GRCm39) T2018A probably benign Het
Tbc1d24 A T 17: 24,427,865 (GRCm39) D32E probably benign Het
Tet1 T A 10: 62,655,253 (GRCm39) H1556L possibly damaging Het
Tmem59 A T 4: 107,047,915 (GRCm39) probably benign Het
Ttn A T 2: 76,731,296 (GRCm39) probably benign Het
Uimc1 A T 13: 55,225,307 (GRCm39) L89H probably damaging Het
Vipas39 A G 12: 87,291,317 (GRCm39) I343T probably damaging Het
Vmn2r71 G T 7: 85,269,817 (GRCm39) V443L probably benign Het
Zbtb14 G A 17: 69,695,342 (GRCm39) D347N possibly damaging Het
Zfp980 G T 4: 145,428,627 (GRCm39) C452F probably damaging Het
Zmym5 T A 14: 57,049,693 (GRCm39) probably benign Het
Znfx1 T C 2: 166,883,673 (GRCm39) T145A possibly 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
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
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'- AACATGTCCTCCTTGTTGTTGTAG -3'
(R):5'- TTCTGCCCTAAAAGGACATCTG -3'

Sequencing Primer
(F):5'- GTGTATGGAAACTAAGATTCTGCAG -3'
(R):5'- TGCCCTAAAAGGACATCTGTGCTC -3'
Posted On 2015-09-25