Incidental Mutation 'IGL02172:Slc39a13'
ID282944
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc39a13
Ensembl Gene ENSMUSG00000002105
Gene Namesolute carrier family 39 (metal ion transporter), member 13
SynonymsZIP13, 1100001L14Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.223) question?
Stock #IGL02172
Quality Score
Status
Chromosome2
Chromosomal Location91061791-91070417 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 91063160 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 318 (E318G)
Ref Sequence ENSEMBL: ENSMUSP00000107063 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002171] [ENSMUST00000067663] [ENSMUST00000073575] [ENSMUST00000079976] [ENSMUST00000111436] [ENSMUST00000111441] [ENSMUST00000153367]
Predicted Effect probably benign
Transcript: ENSMUST00000002171
SMART Domains Protein: ENSMUSP00000002171
Gene: ENSMUSG00000002102

DomainStartEndE-ValueType
AAA 222 361 6.65e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000067663
SMART Domains Protein: ENSMUSP00000071054
Gene: ENSMUSG00000002102

DomainStartEndE-ValueType
AAA 222 361 6.65e-22 SMART
Blast:AAA 390 436 9e-20 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000073575
AA Change: E305G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000073263
Gene: ENSMUSG00000002105
AA Change: E305G

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:Zip 65 357 5e-51 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000079976
AA Change: E104G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000078892
Gene: ENSMUSG00000002105
AA Change: E104G

DomainStartEndE-ValueType
Pfam:Zip 3 156 3.1e-41 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111436
AA Change: E318G

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107063
Gene: ENSMUSG00000002105
AA Change: E318G

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:Zip 65 214 2.4e-14 PFAM
Pfam:Zip 206 370 5.8e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111441
SMART Domains Protein: ENSMUSP00000107068
Gene: ENSMUSG00000002102

DomainStartEndE-ValueType
AAA 180 319 6.65e-22 SMART
Blast:AAA 348 394 8e-20 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123685
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130252
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141328
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145317
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149430
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150348
Predicted Effect probably benign
Transcript: ENSMUST00000153367
SMART Domains Protein: ENSMUSP00000118308
Gene: ENSMUSG00000002105

DomainStartEndE-ValueType
signal peptide 1 43 N/A INTRINSIC
transmembrane domain 78 100 N/A INTRINSIC
transmembrane domain 115 137 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the LIV-1 subfamily of the ZIP transporter family. The encoded transmembrane protein functions as a zinc transporter. Mutations in this gene have been associated with the spondylocheiro dysplastic form of Ehlers-Danlos syndrome. Alternate transcript variants have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for disruption of this gene display skeletal abnormalities and dental abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 37,004,873 V3236A probably damaging Het
Abca12 A G 1: 71,302,658 V1048A probably benign Het
Adgre1 C T 17: 57,478,879 T875I probably damaging Het
Arhgef26 T C 3: 62,459,676 V810A probably benign Het
Atf1 T A 15: 100,254,441 V105E probably damaging Het
Bbs9 C T 9: 22,579,476 T300I possibly damaging Het
Brd7 G T 8: 88,351,824 H226Q probably benign Het
Cadps T C 14: 12,705,681 K238R probably damaging Het
Chordc1 A G 9: 18,302,092 T80A possibly damaging Het
Clca4a A T 3: 144,970,394 C126* probably null Het
Col24a1 A T 3: 145,314,962 T365S probably benign Het
Crb1 C T 1: 139,237,227 G1053D probably damaging Het
Creb3l4 A T 3: 90,242,775 S20T probably benign Het
Cyp2c67 C T 19: 39,649,002 C10Y possibly damaging Het
Dhdh A T 7: 45,475,617 C294S probably damaging Het
Fam135a A G 1: 24,024,780 probably null Het
Fsd1 G T 17: 55,990,244 probably benign Het
Gatad2b A G 3: 90,355,671 probably benign Het
Glb1l2 T C 9: 26,769,086 D232G probably damaging Het
Gm10553 T C 1: 85,100,294 L44P probably damaging Het
Hecw1 T C 13: 14,264,149 Y883C probably damaging Het
Helq A G 5: 100,790,147 F478L probably damaging Het
Ift172 T C 5: 31,281,337 probably benign Het
Krtcap3 A C 5: 31,252,053 T55P probably damaging Het
Megf6 A G 4: 154,270,692 D1488G probably damaging Het
Mrpl1 T C 5: 96,231,715 V203A probably damaging Het
Myh2 A T 11: 67,189,052 D1084V possibly damaging Het
Necap2 T A 4: 141,078,310 probably benign Het
Nemp1 A G 10: 127,692,999 S191G probably benign Het
Nrip1 T C 16: 76,291,492 D1059G probably damaging Het
Ntrk3 A T 7: 78,460,272 probably benign Het
Olfr558 G A 7: 102,709,844 R195H probably benign Het
Olfr583 A G 7: 103,051,375 I26V probably benign Het
Prkdc T G 16: 15,809,759 V3427G probably benign Het
Ptprn2 A T 12: 116,873,697 probably benign Het
Ptprt A T 2: 161,555,502 L1095H probably damaging Het
Ren1 T A 1: 133,359,033 L300Q possibly damaging Het
Rgl3 A G 9: 21,976,838 I460T probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Runx1t1 A C 4: 13,859,924 Q265P probably benign Het
Sh3d21 A G 4: 126,152,360 S282P probably benign Het
Srd5a3 T C 5: 76,147,709 I82T probably benign Het
Stard7 C A 2: 127,290,872 T220N probably damaging Het
Tbx4 G A 11: 85,914,563 G493R possibly damaging Het
Trerf1 A T 17: 47,317,817 noncoding transcript Het
Trim59 T A 3: 69,037,477 I177L probably benign Het
Trpm7 T C 2: 126,795,328 M1789V possibly damaging Het
Tsc22d1 T C 14: 76,417,692 V455A probably benign Het
Vmn2r118 C A 17: 55,624,598 M25I probably benign Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Wdr90 G A 17: 25,850,434 T1233I probably benign Het
Zcchc2 G A 1: 106,000,934 D308N probably benign Het
Zfp57 G T 17: 37,009,589 V112L possibly damaging Het
Zfp874b A T 13: 67,474,016 Y388N probably damaging Het
Other mutations in Slc39a13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01065:Slc39a13 APN 2 91063706 missense probably damaging 1.00
IGL03405:Slc39a13 APN 2 91063103 missense probably damaging 0.98
R0512:Slc39a13 UTSW 2 91065686 missense possibly damaging 0.67
R1472:Slc39a13 UTSW 2 91068705 nonsense probably null
R1624:Slc39a13 UTSW 2 91068526 missense probably damaging 1.00
R1713:Slc39a13 UTSW 2 91063097 missense probably damaging 1.00
R4013:Slc39a13 UTSW 2 91064902 splice site probably null
R6178:Slc39a13 UTSW 2 91068535 missense probably damaging 1.00
Posted On2015-04-16