Incidental Mutation 'IGL02218:Slc25a27'
ID 285020
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc25a27
Ensembl Gene ENSMUSG00000023912
Gene Name solute carrier family 25, member 27
Synonyms 3632410G24Rik, D530043E16Rik, 9430092A03Rik, Ucp4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # IGL02218
Quality Score
Status
Chromosome 17
Chromosomal Location 43952782-43978105 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 43974964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000024705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024705] [ENSMUST00000024705] [ENSMUST00000170988]
AlphaFold Q9D6D0
Predicted Effect probably null
Transcript: ENSMUST00000024705
SMART Domains Protein: ENSMUSP00000024705
Gene: ENSMUSG00000023912

DomainStartEndE-ValueType
Pfam:Mito_carr 15 119 1.4e-21 PFAM
Pfam:Mito_carr 122 221 2e-23 PFAM
Pfam:Mito_carr 224 319 1.1e-20 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000024705
SMART Domains Protein: ENSMUSP00000024705
Gene: ENSMUSG00000023912

DomainStartEndE-ValueType
Pfam:Mito_carr 15 119 1.4e-21 PFAM
Pfam:Mito_carr 122 221 2e-23 PFAM
Pfam:Mito_carr 224 319 1.1e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170988
SMART Domains Protein: ENSMUSP00000130073
Gene: ENSMUSG00000023963

DomainStartEndE-ValueType
Pfam:p450 32 464 1.9e-52 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. Transcripts of this gene are only detected in brain tissue and are specifically modulated by various environmental conditions. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730409E04Rik A G 4: 126,505,838 (GRCm39) D122G probably benign Het
Abcc8 T C 7: 45,769,860 (GRCm39) D885G probably benign Het
Abcf1 T C 17: 36,269,230 (GRCm39) K676R probably benign Het
Acsf2 A G 11: 94,492,589 (GRCm39) V3A probably benign Het
Apba2 C T 7: 64,345,425 (GRCm39) T205I probably benign Het
Bricd5 C A 17: 24,694,296 (GRCm39) Y171* probably null Het
Camk2d T G 3: 126,633,802 (GRCm39) N441K probably benign Het
Carm1 T C 9: 21,480,808 (GRCm39) V94A probably damaging Het
Chd3 C T 11: 69,242,920 (GRCm39) probably benign Het
Cipc A G 12: 87,008,702 (GRCm39) N166S probably damaging Het
Cln5 A C 14: 103,313,276 (GRCm39) probably null Het
Cnbd1 C A 4: 18,887,739 (GRCm39) Q258H probably benign Het
Cyp8b1 A G 9: 121,744,183 (GRCm39) L383P probably damaging Het
Dnai4 A G 4: 102,953,971 (GRCm39) V76A probably damaging Het
Dok3 A G 13: 55,671,599 (GRCm39) L324P probably damaging Het
Eftud2 A T 11: 102,761,039 (GRCm39) F102Y possibly damaging Het
Ewsr1 G A 11: 5,020,668 (GRCm39) P551S unknown Het
Fam193a G T 5: 34,600,932 (GRCm39) V346L possibly damaging Het
Golim4 A G 3: 75,785,361 (GRCm39) S677P probably damaging Het
Gpr149 A G 3: 62,437,952 (GRCm39) probably benign Het
Ins1 A T 19: 52,253,121 (GRCm39) K20N probably benign Het
Itpr2 A T 6: 146,141,760 (GRCm39) probably benign Het
Jup G A 11: 100,272,665 (GRCm39) T249I probably damaging Het
Kctd20 T A 17: 29,176,877 (GRCm39) N2K probably benign Het
Kif15 A G 9: 122,824,892 (GRCm39) probably benign Het
Klrb1-ps1 T C 6: 129,106,269 (GRCm39) noncoding transcript Het
Krtap29-1 T C 11: 99,869,884 (GRCm39) probably null Het
Lamb3 A T 1: 193,010,941 (GRCm39) probably null Het
Large1 A G 8: 73,638,750 (GRCm39) W276R probably damaging Het
Lrp1b T C 2: 41,185,684 (GRCm39) N603D probably benign Het
Lrrc37a A G 11: 103,391,207 (GRCm39) V1406A probably benign Het
Lrrc74a A G 12: 86,795,822 (GRCm39) D265G probably benign Het
Lrrfip2 G A 9: 111,048,793 (GRCm39) C250Y probably benign Het
Mbtd1 A G 11: 93,822,629 (GRCm39) probably benign Het
Msr1 A G 8: 40,042,357 (GRCm39) V406A possibly damaging Het
Mtfr1l C T 4: 134,256,491 (GRCm39) D225N probably benign Het
Nckap1l T A 15: 103,391,954 (GRCm39) S796R possibly damaging Het
Oaf T A 9: 43,136,219 (GRCm39) H119L probably benign Het
Or4d1 A T 11: 87,804,889 (GRCm39) M281K probably damaging Het
Pik3c2g A T 6: 139,806,081 (GRCm39) H516L probably damaging Het
Pkd1l3 A T 8: 110,387,434 (GRCm39) I1793F possibly damaging Het
Ptpra A G 2: 130,394,255 (GRCm39) probably benign Het
Slc2a2 A T 3: 28,752,174 (GRCm39) E3D possibly damaging Het
Slc35f5 T C 1: 125,512,292 (GRCm39) F14S probably damaging Het
Sspn T C 6: 145,907,112 (GRCm39) V105A probably damaging Het
Syvn1 T C 19: 6,100,229 (GRCm39) I263T probably damaging Het
Tek A C 4: 94,743,574 (GRCm39) D863A probably damaging Het
Tent5b C T 4: 133,213,462 (GRCm39) A111V probably damaging Het
Tm9sf4 G T 2: 153,046,536 (GRCm39) V592F probably benign Het
Tmem259 A G 10: 79,814,151 (GRCm39) M354T possibly damaging Het
Ttf2 T C 3: 100,871,409 (GRCm39) E84G possibly damaging Het
Ttyh3 T C 5: 140,612,246 (GRCm39) E487G probably damaging Het
Ubtf C A 11: 102,197,526 (GRCm39) E709* probably null Het
Vmn1r119 T C 7: 20,745,561 (GRCm39) R274G probably benign Het
Zfp804a A G 2: 82,089,546 (GRCm39) Q1125R probably damaging Het
Other mutations in Slc25a27
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00942:Slc25a27 APN 17 43,974,980 (GRCm39) missense probably benign 0.01
IGL01767:Slc25a27 APN 17 43,974,964 (GRCm39) critical splice donor site probably null
IGL02207:Slc25a27 APN 17 43,972,575 (GRCm39) missense probably damaging 1.00
IGL02795:Slc25a27 APN 17 43,958,003 (GRCm39) missense probably damaging 1.00
R0243:Slc25a27 UTSW 17 43,954,518 (GRCm39) missense probably benign 0.03
R1591:Slc25a27 UTSW 17 43,964,315 (GRCm39) missense probably benign 0.12
R2165:Slc25a27 UTSW 17 43,968,663 (GRCm39) missense probably benign 0.00
R2974:Slc25a27 UTSW 17 43,964,262 (GRCm39) missense probably damaging 1.00
R5087:Slc25a27 UTSW 17 43,977,821 (GRCm39) missense probably damaging 1.00
R5888:Slc25a27 UTSW 17 43,960,585 (GRCm39) missense probably damaging 1.00
R6283:Slc25a27 UTSW 17 43,968,621 (GRCm39) missense probably damaging 1.00
R7309:Slc25a27 UTSW 17 43,975,083 (GRCm39) missense probably benign
R7920:Slc25a27 UTSW 17 43,960,564 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16