Incidental Mutation 'IGL02183:Slc39a14'
ID 284335
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc39a14
Ensembl Gene ENSMUSG00000022094
Gene Name solute carrier family 39 (zinc transporter), member 14
Synonyms Zip14, G630015O18Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.222) question?
Stock # IGL02183
Quality Score
Status
Chromosome 14
Chromosomal Location 70303469-70351425 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 70306685 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 484 (G484E)
Ref Sequence ENSEMBL: ENSMUSP00000119040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022688] [ENSMUST00000068044] [ENSMUST00000152067]
AlphaFold Q75N73
Predicted Effect possibly damaging
Transcript: ENSMUST00000022688
AA Change: G484E

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022688
Gene: ENSMUSG00000022094
AA Change: G484E

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:Zip 149 480 4.4e-72 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000068044
AA Change: G484E

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000066108
Gene: ENSMUSG00000022094
AA Change: G484E

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:Zip 149 480 5.4e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145040
Predicted Effect possibly damaging
Transcript: ENSMUST00000152067
AA Change: G484E

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000119040
Gene: ENSMUSG00000022094
AA Change: G484E

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:Zip 149 480 3.3e-69 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155825
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226708
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. SLC39A14 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygotes for a null allele show dwarfism, scoliosis, osteopenia, short long bones, altered gluconeogenesis and chondrocyte differentiation, low plasma IGF-I and liver zinc levels. Homozygotes for another null allele show reduced liver zinc levels and hepatocyte proliferation after hepatectomy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010300C02Rik G A 1: 37,625,378 (GRCm38) P480S possibly damaging Het
Ace2 T A X: 164,177,469 (GRCm38) probably benign Het
Acsm4 A T 7: 119,693,852 (GRCm38) probably null Het
Apcdd1 T C 18: 62,951,854 (GRCm38) M374T probably damaging Het
Arid4b A G 13: 14,169,990 (GRCm38) E551G possibly damaging Het
Bag4 A T 8: 25,768,030 (GRCm38) L423Q probably damaging Het
Celf1 C T 2: 91,001,486 (GRCm38) P96S probably damaging Het
Cry2 G A 2: 92,413,039 (GRCm38) R486W probably damaging Het
Csn1s1 G A 5: 87,677,618 (GRCm38) S228N possibly damaging Het
Ctnnd2 A G 15: 31,020,740 (GRCm38) Y1124C probably damaging Het
Cyp2j7 T C 4: 96,230,147 (GRCm38) probably benign Het
Dock7 A T 4: 98,958,991 (GRCm38) C1695S possibly damaging Het
Elmo3 T C 8: 105,308,323 (GRCm38) L415P probably benign Het
Entpd5 A G 12: 84,380,380 (GRCm38) probably benign Het
Gm7534 A G 4: 134,201,980 (GRCm38) L338S probably benign Het
Gpatch11 T C 17: 78,842,231 (GRCm38) probably null Het
Gprin3 C A 6: 59,353,162 (GRCm38) R720I possibly damaging Het
Gria4 T G 9: 4,502,460 (GRCm38) T358P probably damaging Het
Hcn2 T C 10: 79,724,813 (GRCm38) probably null Het
Hivep3 A G 4: 120,132,024 (GRCm38) T1891A probably benign Het
Hmgcr A G 13: 96,663,127 (GRCm38) V153A probably damaging Het
Ifnar1 T C 16: 91,505,146 (GRCm38) V503A possibly damaging Het
Igf2r G A 17: 12,698,516 (GRCm38) probably benign Het
Ighg2b A G 12: 113,307,829 (GRCm38) S35P unknown Het
Jmy T C 13: 93,499,242 (GRCm38) D22G possibly damaging Het
Kdm5b T C 1: 134,624,931 (GRCm38) I1215T probably benign Het
Krt84 T C 15: 101,532,356 (GRCm38) I134V unknown Het
Magi3 T A 3: 104,085,347 (GRCm38) M270L probably benign Het
Maneal G A 4: 124,860,416 (GRCm38) T198I probably benign Het
Map7d3 A G X: 56,822,231 (GRCm38) probably benign Het
Myh7 T A 14: 54,974,731 (GRCm38) T1519S probably benign Het
Myo5a T C 9: 75,167,236 (GRCm38) probably benign Het
Naip5 T C 13: 100,221,642 (GRCm38) S1029G probably benign Het
Olfr1162 T C 2: 88,049,989 (GRCm38) T212A possibly damaging Het
Olfr1205 A T 2: 88,832,028 (GRCm38) I304F probably benign Het
Olfr125 G T 17: 37,835,413 (GRCm38) C138F probably damaging Het
Olfr1279 T A 2: 111,306,418 (GRCm38) V71E probably damaging Het
Olfr178 T A 16: 58,889,821 (GRCm38) Q133L probably benign Het
Pald1 A T 10: 61,347,141 (GRCm38) probably benign Het
Pan2 T A 10: 128,309,075 (GRCm38) H230Q possibly damaging Het
Pcdh9 T C 14: 93,886,284 (GRCm38) I817V probably benign Het
Piezo2 A G 18: 63,020,634 (GRCm38) S2547P probably benign Het
Ppargc1b T A 18: 61,309,096 (GRCm38) probably null Het
Prdm6 T C 18: 53,464,677 (GRCm38) probably benign Het
Prr5l A T 2: 101,772,120 (GRCm38) probably benign Het
Rab3gap2 T A 1: 185,271,468 (GRCm38) L1020* probably null Het
Rhbdf1 T C 11: 32,210,543 (GRCm38) H669R probably damaging Het
Rnf150 A T 8: 83,003,605 (GRCm38) I255F probably damaging Het
Rnf17 T A 14: 56,507,868 (GRCm38) D1360E probably null Het
Sag T C 1: 87,828,475 (GRCm38) probably null Het
Scn2a C T 2: 65,671,603 (GRCm38) T90I probably benign Het
Scn9a T A 2: 66,484,611 (GRCm38) probably benign Het
Serpinb13 T C 1: 106,998,910 (GRCm38) M212T probably damaging Het
Slco1a1 A T 6: 141,921,943 (GRCm38) probably benign Het
Slitrk3 A T 3: 73,049,979 (GRCm38) Y487N probably damaging Het
Stkld1 T C 2: 26,946,659 (GRCm38) M279T probably benign Het
Tmem161b T C 13: 84,272,254 (GRCm38) Y125H probably damaging Het
Tmem71 A G 15: 66,555,025 (GRCm38) probably benign Het
Ubxn7 T C 16: 32,369,383 (GRCm38) F142L probably damaging Het
Vmn2r22 A G 6: 123,638,004 (GRCm38) L209P probably damaging Het
Wdr73 A T 7: 80,893,760 (GRCm38) W136R probably damaging Het
Wif1 C T 10: 121,075,276 (GRCm38) R107C probably damaging Het
Ythdf2 G T 4: 132,205,574 (GRCm38) L92M probably benign Het
Zfp53 T A 17: 21,500,250 (GRCm38) I34N possibly damaging Het
Other mutations in Slc39a14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02348:Slc39a14 APN 14 70,316,436 (GRCm38) critical splice donor site probably null
IGL03108:Slc39a14 APN 14 70,318,919 (GRCm38) missense probably damaging 0.98
IGL03391:Slc39a14 APN 14 70,309,842 (GRCm38) missense probably damaging 1.00
R1741:Slc39a14 UTSW 14 70,318,744 (GRCm38) missense probably damaging 1.00
R2437:Slc39a14 UTSW 14 70,316,436 (GRCm38) critical splice donor site probably null
R4726:Slc39a14 UTSW 14 70,313,599 (GRCm38) critical splice donor site probably null
R4808:Slc39a14 UTSW 14 70,315,801 (GRCm38) missense probably damaging 1.00
R4911:Slc39a14 UTSW 14 70,309,922 (GRCm38) missense probably benign 0.00
R4957:Slc39a14 UTSW 14 70,315,811 (GRCm38) missense probably damaging 0.99
R5815:Slc39a14 UTSW 14 70,306,745 (GRCm38) missense probably damaging 1.00
R6393:Slc39a14 UTSW 14 70,309,813 (GRCm38) missense probably benign 0.02
R6464:Slc39a14 UTSW 14 70,306,728 (GRCm38) missense probably damaging 0.98
R6466:Slc39a14 UTSW 14 70,309,886 (GRCm38) missense probably damaging 1.00
R6757:Slc39a14 UTSW 14 70,310,884 (GRCm38) missense probably damaging 1.00
R6969:Slc39a14 UTSW 14 70,308,826 (GRCm38) missense probably damaging 0.99
R7569:Slc39a14 UTSW 14 70,309,827 (GRCm38) missense possibly damaging 0.66
R7711:Slc39a14 UTSW 14 70,313,675 (GRCm38) missense probably damaging 1.00
R7830:Slc39a14 UTSW 14 70,310,117 (GRCm38) missense probably benign 0.00
R8075:Slc39a14 UTSW 14 70,308,798 (GRCm38) missense possibly damaging 0.87
R9171:Slc39a14 UTSW 14 70,310,238 (GRCm38) missense probably benign 0.01
R9371:Slc39a14 UTSW 14 70,310,120 (GRCm38) missense probably benign
R9576:Slc39a14 UTSW 14 70,318,786 (GRCm38) missense probably benign
R9653:Slc39a14 UTSW 14 70,309,799 (GRCm38) missense probably damaging 1.00
Posted On 2015-04-16