Incidental Mutation 'IGL01963:Slc25a16'
ID182478
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a16
Ensembl Gene ENSMUSG00000071253
Gene Namesolute carrier family 25 (mitochondrial carrier, Graves disease autoantigen), member 16
SynonymsHGT.1, ML7, 3110021G18Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.108) question?
Stock #IGL01963
Quality Score
Status
Chromosome10
Chromosomal Location62920633-62946498 bp(+) (GRCm38)
Type of Mutationsplice site (5 bp from exon)
DNA Base Change (assembly) G to A at 62930441 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000114510 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044977] [ENSMUST00000144459]
Predicted Effect probably null
Transcript: ENSMUST00000044977
SMART Domains Protein: ENSMUSP00000043370
Gene: ENSMUSG00000071253

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
Pfam:Mito_carr 32 125 1.7e-25 PFAM
Pfam:Mito_carr 127 220 2.3e-26 PFAM
Pfam:Mito_carr 237 332 8.6e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138597
Predicted Effect probably null
Transcript: ENSMUST00000144459
SMART Domains Protein: ENSMUSP00000114510
Gene: ENSMUSG00000071253

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
Pfam:Mito_carr 32 125 9.4e-28 PFAM
Pfam:Mito_carr 126 223 4.6e-25 PFAM
Pfam:Mito_carr 240 322 2.3e-18 PFAM
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 protein that contains three tandemly repeated mitochondrial carrier protein domains. The encoded protein is localized in the inner membrane and facilitates the rapid transport and exchange of molecules between the cytosol and the mitochondrial matrix space. This gene has a possible role in Graves' disease. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610042L04Rik G A 14: 4,350,856 G130D probably damaging Het
Abca8b T A 11: 109,971,763 D392V probably damaging Het
Clptm1l T A 13: 73,617,569 probably benign Het
Creb3l1 G A 2: 91,993,333 T178I probably benign Het
Ctsd A G 7: 142,376,599 probably null Het
Dcstamp A T 15: 39,760,359 I401F possibly damaging Het
Dnah5 A G 15: 28,370,536 D2874G probably benign Het
Fgfr1op A T 17: 8,192,277 D354V probably damaging Het
Fli1 T A 9: 32,424,207 K310* probably null Het
Fndc4 C T 5: 31,295,212 probably null Het
Fuk A G 8: 110,893,402 F281S probably damaging Het
Gc G A 5: 89,422,122 probably benign Het
Krtap26-1 A G 16: 88,647,668 C22R probably damaging Het
Obscn C T 11: 59,020,541 G6422S probably benign Het
Olfr1444 T A 19: 12,862,382 F202L probably benign Het
Olfr418 T A 1: 173,270,352 M59K probably damaging Het
Olfr975 C A 9: 39,950,240 C177F probably damaging Het
Pgr C T 9: 8,922,668 P613L probably damaging Het
Pnpla8 C A 12: 44,296,033 A524E possibly damaging Het
Psma2 A T 13: 14,619,363 I105F probably damaging Het
Ptprg A G 14: 12,220,661 R458G probably damaging Het
Rbm44 A G 1: 91,163,108 I755V probably benign Het
Rev3l A G 10: 39,822,737 K1077E possibly damaging Het
Rps20 A C 4: 3,834,494 probably benign Het
Sel1l3 A C 5: 53,200,338 V104G probably damaging Het
Sirpb1c T C 3: 15,838,773 N89S probably benign Het
Sulf1 C T 1: 12,818,507 R339C probably damaging Het
Tedc2 C T 17: 24,217,952 A270T probably benign Het
Trem3 T C 17: 48,247,852 S2P possibly damaging Het
Vps37a G T 8: 40,540,730 Q255H probably damaging Het
Zfp352 C T 4: 90,224,154 A177V possibly damaging Het
Other mutations in Slc25a16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01013:Slc25a16 APN 10 62944433 unclassified probably null
IGL02130:Slc25a16 APN 10 62944358 missense probably benign 0.02
R1503:Slc25a16 UTSW 10 62928376 missense probably damaging 1.00
R1533:Slc25a16 UTSW 10 62920864 missense probably damaging 0.97
R2067:Slc25a16 UTSW 10 62932751 missense probably benign 0.25
R4388:Slc25a16 UTSW 10 62928326 missense probably benign 0.18
R6225:Slc25a16 UTSW 10 62928323 missense probably damaging 1.00
R6457:Slc25a16 UTSW 10 62941159 missense probably benign 0.20
R6459:Slc25a16 UTSW 10 62937477 nonsense probably null
R7009:Slc25a16 UTSW 10 62937454 missense possibly damaging 0.95
Posted On2014-05-07