Incidental Mutation 'IGL01597:Slc39a12'
ID91703
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc39a12
Ensembl Gene ENSMUSG00000036949
Gene Namesolute carrier family 39 (zinc transporter), member 12
SynonymsLOC277468
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL01597
Quality Score
Status
Chromosome2
Chromosomal Location14388316-14494977 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 14434309 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 458 (F458Y)
Ref Sequence ENSEMBL: ENSMUSP00000110379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082290] [ENSMUST00000114731]
Predicted Effect possibly damaging
Transcript: ENSMUST00000082290
AA Change: F458Y

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000080911
Gene: ENSMUSG00000036949
AA Change: F458Y

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: F458Y

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000110379
Gene: ENSMUSG00000036949
AA Change: F458Y

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
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna2d1 A T 5: 16,326,392 probably benign Het
Cdk12 A G 11: 98,250,264 probably benign Het
Ces1e T A 8: 93,210,373 I357F probably benign Het
Dicer1 G A 12: 104,705,210 R934* probably null Het
Dnah9 A T 11: 66,118,830 Y744N probably damaging Het
Fgd5 T A 6: 91,987,929 I381N probably damaging Het
Gabrg1 T C 5: 70,782,348 D147G probably damaging Het
Gpsm2 A T 3: 108,696,987 M385K probably benign Het
Hivep2 C T 10: 14,149,374 Q2311* probably null Het
Olfr368 A C 2: 37,332,011 D88A possibly damaging Het
Olfr615 A G 7: 103,561,142 I222V possibly damaging Het
Olfr64 A G 7: 103,893,096 V213A probably benign Het
Olfr866 A T 9: 20,027,686 M84K probably damaging Het
Papss2 G A 19: 32,638,258 R130H probably damaging Het
Pik3r5 A T 11: 68,496,001 I819F probably damaging Het
Pipox A G 11: 77,883,193 V199A probably damaging Het
Pkd1l3 G T 8: 109,623,521 V333L probably benign Het
Rbl1 A G 2: 157,195,449 probably benign Het
Scyl2 T A 10: 89,652,987 I489F probably damaging Het
Serinc4 T A 2: 121,454,991 L100F probably damaging Het
Snrnp200 T C 2: 127,238,732 probably benign Het
Syngr4 T C 7: 45,886,966 T211A probably benign Het
Taar8a T C 10: 24,076,858 L120P possibly damaging Het
Tbx10 A G 19: 3,996,736 K72R probably benign Het
Tomm70a A G 16: 57,133,188 T149A probably benign Het
Traip T A 9: 107,955,924 probably null Het
Trpm3 G A 19: 22,715,246 G234R probably damaging Het
Tubgcp5 A G 7: 55,806,832 probably benign Het
Vstm5 T C 9: 15,257,379 W80R probably damaging Het
Vwa5a A T 9: 38,733,865 R415S probably damaging Het
Zfp39 A G 11: 58,891,543 V131A probably damaging Het
Other mutations in Slc39a12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00536:Slc39a12 APN 2 14396068 splice site probably benign
IGL02516:Slc39a12 APN 2 14400335 missense probably damaging 1.00
R0068:Slc39a12 UTSW 2 14435678 missense probably benign
R0068:Slc39a12 UTSW 2 14435678 missense probably benign
R0453:Slc39a12 UTSW 2 14435681 missense probably benign 0.04
R0533:Slc39a12 UTSW 2 14400331 missense probably benign 0.00
R0718:Slc39a12 UTSW 2 14407426 splice site probably benign
R1647:Slc39a12 UTSW 2 14451992 missense probably benign 0.24
R1648:Slc39a12 UTSW 2 14451992 missense probably benign 0.24
R1879:Slc39a12 UTSW 2 14444057 missense probably benign
R1993:Slc39a12 UTSW 2 14434219 missense probably damaging 0.98
R2429:Slc39a12 UTSW 2 14405086 missense probably benign 0.06
R3746:Slc39a12 UTSW 2 14396067 splice site probably benign
R3934:Slc39a12 UTSW 2 14434363 splice site probably benign
R3941:Slc39a12 UTSW 2 14396181 missense possibly damaging 0.95
R4008:Slc39a12 UTSW 2 14452117 missense probably damaging 1.00
R4478:Slc39a12 UTSW 2 14420179 nonsense probably null
R4622:Slc39a12 UTSW 2 14400325 missense probably benign 0.11
R4760:Slc39a12 UTSW 2 14400323 missense probably benign 0.14
R5477:Slc39a12 UTSW 2 14389382 missense possibly damaging 0.46
R5566:Slc39a12 UTSW 2 14407603 missense possibly damaging 0.80
R5725:Slc39a12 UTSW 2 14389264 start gained probably benign
R5798:Slc39a12 UTSW 2 14449826 missense probably damaging 1.00
R6074:Slc39a12 UTSW 2 14407479 nonsense probably null
R6169:Slc39a12 UTSW 2 14400233 missense possibly damaging 0.64
R6180:Slc39a12 UTSW 2 14396127 missense probably benign 0.38
R6802:Slc39a12 UTSW 2 14420085 missense probably benign 0.28
R6847:Slc39a12 UTSW 2 14449917 missense probably damaging 1.00
R6899:Slc39a12 UTSW 2 14389541 missense probably damaging 1.00
R6931:Slc39a12 UTSW 2 14389375 missense probably benign 0.04
R7131:Slc39a12 UTSW 2 14449803 missense probably damaging 1.00
R7343:Slc39a12 UTSW 2 14452000 missense probably damaging 1.00
R7525:Slc39a12 UTSW 2 14494461 missense probably benign 0.01
R7568:Slc39a12 UTSW 2 14400128 splice site probably null
R7684:Slc39a12 UTSW 2 14449859 missense probably damaging 0.99
R7761:Slc39a12 UTSW 2 14434330 missense probably benign 0.01
R7785:Slc39a12 UTSW 2 14420218 missense probably damaging 1.00
Posted On2013-12-09