Incidental Mutation 'R7009:Slc25a16'
ID 544913
Institutional Source Beutler Lab
Gene Symbol Slc25a16
Ensembl Gene ENSMUSG00000071253
Gene Name solute carrier family 25 (mitochondrial carrier, Graves disease autoantigen), member 16
Synonyms HGT.1, ML7, 3110021G18Rik
MMRRC Submission 045111-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R7009 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 62920633-62946498 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 62937454 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 156 (V156E)
Ref Sequence ENSEMBL: ENSMUSP00000114510 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044977] [ENSMUST00000144459]
AlphaFold Q8C0K5
Predicted Effect possibly damaging
Transcript: ENSMUST00000044977
AA Change: V153E

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000043370
Gene: ENSMUSG00000071253
AA Change: V153E

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 possibly damaging
Transcript: ENSMUST00000144459
AA Change: V156E

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114510
Gene: ENSMUSG00000071253
AA Change: V156E

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (82/83)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik G T 13: 59,690,810 (GRCm38) D69E possibly damaging Het
Abat A C 16: 8,602,367 (GRCm38) M177L probably benign Het
Acadvl A G 11: 70,014,791 (GRCm38) probably null Het
Adam5 T C 8: 24,806,438 (GRCm38) N331S probably benign Het
Ager A G 17: 34,600,736 (GRCm38) E372G probably damaging Het
Angpt1 T A 15: 42,523,595 (GRCm38) Q121L possibly damaging Het
Apoa4 A T 9: 46,242,880 (GRCm38) I260F possibly damaging Het
Arhgap32 A T 9: 32,245,976 (GRCm38) I90F probably damaging Het
Arhgap5 A T 12: 52,519,639 (GRCm38) Q1131L probably benign Het
Bach1 G A 16: 87,719,291 (GRCm38) R240Q probably benign Het
Cacna2d3 A T 14: 28,969,365 (GRCm38) M1K probably null Het
Ccdc18 G A 5: 108,173,862 (GRCm38) probably null Het
Ccdc42 T C 11: 68,594,616 (GRCm38) F267S probably damaging Het
Cdh23 T A 10: 60,337,306 (GRCm38) Y1700F probably damaging Het
Cenpe A T 3: 135,235,201 (GRCm38) S704C probably damaging Het
Cenpe G A 3: 135,235,202 (GRCm38) S704N probably benign Het
Cfap299 A T 5: 98,784,520 (GRCm38) D193V probably damaging Het
Cfap54 A T 10: 92,875,019 (GRCm38) S2727T unknown Het
Clu T A 14: 65,971,832 (GRCm38) V113D probably damaging Het
Cnbd2 A G 2: 156,320,034 (GRCm38) I98V probably benign Het
Copa G T 1: 172,091,000 (GRCm38) R97L probably damaging Het
Epb41l1 C A 2: 156,534,683 (GRCm38) probably null Het
Etnk1 T A 6: 143,203,154 (GRCm38) probably null Het
Fnip1 A T 11: 54,502,935 (GRCm38) K732N probably damaging Het
G6pd2 A G 5: 61,808,891 (GRCm38) E3G probably benign Het
Gal3st2 A G 1: 93,873,759 (GRCm38) T95A probably benign Het
Gapvd1 A G 2: 34,700,817 (GRCm38) S948P probably damaging Het
Ggps1 A T 13: 14,054,165 (GRCm38) Y8* probably null Het
Gria2 T C 3: 80,706,972 (GRCm38) E587G probably damaging Het
Hpse T C 5: 100,692,279 (GRCm38) E324G probably benign Het
Il16 G A 7: 83,646,388 (GRCm38) T493I probably benign Het
Ints1 T C 5: 139,768,462 (GRCm38) T652A possibly damaging Het
Ism1 A G 2: 139,757,279 (GRCm38) I391V probably damaging Het
Katnb1 A G 8: 95,098,384 (GRCm38) D598G probably damaging Het
Kif5c A G 2: 49,757,429 (GRCm38) S880G probably benign Het
Klra8 T C 6: 130,125,184 (GRCm38) N96S probably benign Het
Krt79 T A 15: 101,931,441 (GRCm38) D373V probably damaging Het
Lamtor4 G A 5: 138,259,112 (GRCm38) R92Q probably benign Het
Lce1d C A 3: 92,686,046 (GRCm38) C20F unknown Het
Limk1 T C 5: 134,672,699 (GRCm38) T117A probably benign Het
Medag A T 5: 149,427,243 (GRCm38) K61M probably benign Het
Mkrn3 T C 7: 62,419,618 (GRCm38) M142V probably benign Het
Mob3c G A 4: 115,831,582 (GRCm38) R104H probably benign Het
Morc1 G T 16: 48,627,070 (GRCm38) R903L possibly damaging Het
Myh6 T C 14: 54,952,292 (GRCm38) E1099G probably damaging Het
Nphp3 T G 9: 104,016,116 (GRCm38) C434G probably null Het
Npr3 C T 15: 11,905,248 (GRCm38) C131Y probably damaging Het
Oacyl C A 18: 65,722,538 (GRCm38) Y112* probably null Het
Oprl1 A G 2: 181,718,381 (GRCm38) T77A probably damaging Het
Osgep A G 14: 50,924,708 (GRCm38) V24A probably damaging Het
Otx2 T A 14: 48,658,797 (GRCm38) K260M probably damaging Het
Pdcd11 T C 19: 47,113,142 (GRCm38) L922P probably benign Het
Pgap4 A T 4: 49,586,325 (GRCm38) M281K probably benign Het
Phldb1 A G 9: 44,694,408 (GRCm38) V375A probably damaging Het
Pip5k1b C T 19: 24,359,935 (GRCm38) probably null Het
Psmd3 G A 11: 98,682,766 (GRCm38) D13N probably benign Het
Ptprc G A 1: 138,064,553 (GRCm38) H1140Y probably damaging Het
Ranbp3l A T 15: 9,062,984 (GRCm38) H291L probably damaging Het
Rasa4 T A 5: 136,101,363 (GRCm38) D324E probably damaging Het
Rilpl1 T A 5: 124,503,692 (GRCm38) silent Het
Rin2 A C 2: 145,883,475 (GRCm38) D794A probably damaging Het
Ripk1 A G 13: 34,030,062 (GRCm38) I522M probably damaging Het
Rnf31 T C 14: 55,592,551 (GRCm38) Y143H probably benign Het
Rp1 T G 1: 4,042,068 (GRCm38) I1187L unknown Het
Rps6ka5 G A 12: 100,619,537 (GRCm38) H166Y probably damaging Het
Rrm1 T C 7: 102,460,334 (GRCm38) V455A probably damaging Het
Runx2 G A 17: 44,814,192 (GRCm38) P80L probably damaging Het
Scn5a T G 9: 119,485,930 (GRCm38) E1904A probably damaging Het
Sec16a G T 2: 26,436,002 (GRCm38) S240* probably null Het
Slc22a8 C T 19: 8,605,417 (GRCm38) T154I probably benign Het
Slc28a3 A T 13: 58,610,804 (GRCm38) S2T probably benign Het
Srd5a3 G A 5: 76,149,866 (GRCm38) V48I probably benign Het
Srebf1 A C 11: 60,200,526 (GRCm38) H1025Q probably damaging Het
Stard9 A G 2: 120,697,191 (GRCm38) K1310E probably benign Het
Swt1 A G 1: 151,370,630 (GRCm38) V848A possibly damaging Het
Tanc2 A T 11: 105,840,699 (GRCm38) T434S possibly damaging Het
Tcf20 G A 15: 82,854,682 (GRCm38) T856I probably benign Het
Tcf7l2 T C 19: 55,894,733 (GRCm38) probably null Het
Trim45 A G 3: 100,931,879 (GRCm38) probably benign Het
Tsen2 T A 6: 115,547,972 (GRCm38) M44K possibly damaging Het
Ttc21a T A 9: 119,958,073 (GRCm38) C715* probably null Het
Vmn2r102 G A 17: 19,694,194 (GRCm38) V674I probably damaging Het
Zfp87 A G 13: 67,517,054 (GRCm38) S430P probably damaging Het
Other mutations in Slc25a16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01013:Slc25a16 APN 10 62,944,433 (GRCm38) splice site probably null
IGL01963:Slc25a16 APN 10 62,930,441 (GRCm38) splice site probably null
IGL02130:Slc25a16 APN 10 62,944,358 (GRCm38) missense probably benign 0.02
R1503:Slc25a16 UTSW 10 62,928,376 (GRCm38) missense probably damaging 1.00
R1533:Slc25a16 UTSW 10 62,920,864 (GRCm38) missense probably damaging 0.97
R2067:Slc25a16 UTSW 10 62,932,751 (GRCm38) missense probably benign 0.25
R4388:Slc25a16 UTSW 10 62,928,326 (GRCm38) missense probably benign 0.18
R6225:Slc25a16 UTSW 10 62,928,323 (GRCm38) missense probably damaging 1.00
R6457:Slc25a16 UTSW 10 62,941,159 (GRCm38) missense probably benign 0.20
R6459:Slc25a16 UTSW 10 62,937,477 (GRCm38) nonsense probably null
R7814:Slc25a16 UTSW 10 62,937,420 (GRCm38) missense probably benign 0.00
R8792:Slc25a16 UTSW 10 62,928,340 (GRCm38) nonsense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-05-13