Incidental Mutation 'R6283:Slc25a27'
ID 508080
Institutional Source Beutler Lab
Gene Symbol Slc25a27
Ensembl Gene ENSMUSG00000023912
Gene Name solute carrier family 25, member 27
Synonyms 3632410G24Rik, D530043E16Rik, 9430092A03Rik, Ucp4
MMRRC Submission 044453-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R6283 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 43952782-43978105 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 43968621 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 152 (V152G)
Ref Sequence ENSEMBL: ENSMUSP00000024705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024705]
AlphaFold Q9D6D0
Predicted Effect probably damaging
Transcript: ENSMUST00000024705
AA Change: V152G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000024705
Gene: ENSMUSG00000023912
AA Change: V152G

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
Meta Mutation Damage Score 0.8583 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 100% (59/59)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf3 C A 8: 123,512,694 (GRCm39) R372S probably damaging Het
Adamts20 A G 15: 94,249,602 (GRCm39) S472P probably benign Het
Bhlhe40 T C 6: 108,641,992 (GRCm39) L312P probably damaging Het
Ccdc180 A G 4: 45,902,486 (GRCm39) E305G possibly damaging Het
Ccdc83 T A 7: 89,885,615 (GRCm39) R257* probably null Het
Cd209e G A 8: 3,899,212 (GRCm39) Q167* probably null Het
Cd300e G A 11: 114,945,380 (GRCm39) T138I probably benign Het
Ces2c A T 8: 105,576,331 (GRCm39) M115L probably benign Het
Cfap61 T A 2: 145,971,022 (GRCm39) probably null Het
Chd1l G A 3: 97,494,483 (GRCm39) A399V probably damaging Het
Cic C T 7: 24,985,459 (GRCm39) S301L probably damaging Het
Cks2 A G 13: 51,799,495 (GRCm39) H16R probably benign Het
Copa A T 1: 171,946,415 (GRCm39) H953L possibly damaging Het
Ctdsp2 T C 10: 126,831,749 (GRCm39) V145A possibly damaging Het
Cyp2j13 A G 4: 95,945,074 (GRCm39) V377A possibly damaging Het
Dhx57 A G 17: 80,582,234 (GRCm39) V404A probably benign Het
Dock2 T C 11: 34,598,152 (GRCm39) S340G probably damaging Het
Ggps1 A G 13: 14,232,379 (GRCm39) probably null Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm11444 T C 11: 85,737,617 (GRCm39) probably null Het
Grina A G 15: 76,132,751 (GRCm39) T173A possibly damaging Het
Hcrtr1 G A 4: 130,029,133 (GRCm39) T223I probably benign Het
Igsf10 T A 3: 59,226,870 (GRCm39) T2268S probably damaging Het
Inhca G A 9: 103,159,834 (GRCm39) R14* probably null Het
Ino80d C T 1: 63,101,285 (GRCm39) R447Q probably damaging Het
Inpp4b C T 8: 82,497,462 (GRCm39) T94M probably damaging Het
Itga2 A G 13: 115,005,786 (GRCm39) Y465H probably damaging Het
Knl1 A G 2: 118,900,767 (GRCm39) T823A probably damaging Het
Krtap4-16 A G 11: 99,741,861 (GRCm39) S180P unknown Het
Ldc1 A G 4: 130,115,534 (GRCm39) S5P probably benign Het
Lpar6 A T 14: 73,476,297 (GRCm39) D86V probably damaging Het
Muc5ac C A 7: 141,370,601 (GRCm39) C2500* probably null Het
Mzf1 T C 7: 12,787,296 (GRCm39) probably benign Het
Or4f58 A C 2: 111,851,605 (GRCm39) M198R possibly damaging Het
Or5d46 T A 2: 88,170,002 (GRCm39) I31N probably benign Het
Or5m3 G T 2: 85,838,443 (GRCm39) V108L possibly damaging Het
Or7a36 T C 10: 78,820,113 (GRCm39) V163A probably benign Het
Otogl T G 10: 107,626,361 (GRCm39) E1501A probably damaging Het
Pcdh10 T A 3: 45,335,989 (GRCm39) S768T possibly damaging Het
Pcnx2 G T 8: 126,604,325 (GRCm39) Q644K probably damaging Het
Pdzd9 T A 7: 120,259,449 (GRCm39) I180F possibly damaging Het
Pinx1 A C 14: 64,115,621 (GRCm39) N152T probably benign Het
Prr14l T C 5: 32,987,608 (GRCm39) E629G probably benign Het
Qpctl T A 7: 18,882,345 (GRCm39) I104F probably benign Het
Rabep1 C T 11: 70,808,505 (GRCm39) A444V probably damaging Het
Rnf150 A G 8: 83,717,183 (GRCm39) Y230C probably damaging Het
Swt1 A G 1: 151,260,084 (GRCm39) S772P possibly damaging Het
Tenm4 A G 7: 96,523,701 (GRCm39) T1711A probably benign Het
Tfap2d G C 1: 19,174,702 (GRCm39) G52R probably benign Het
Tmem265 T G 7: 127,164,044 (GRCm39) V86G possibly damaging Het
Trpm8 C T 1: 88,276,054 (GRCm39) H551Y probably benign Het
Ttc6 T G 12: 57,749,048 (GRCm39) Y1327D possibly damaging Het
Uevld G T 7: 46,587,729 (GRCm39) Q324K possibly damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r73 C T 7: 85,521,049 (GRCm39) M306I probably benign Het
Vmn2r93 T A 17: 18,524,366 (GRCm39) M120K probably benign Het
Zfp804b T A 5: 6,819,908 (GRCm39) I1016F probably benign Het
Zfp90 T C 8: 107,152,026 (GRCm39) C580R 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
IGL02218:Slc25a27 APN 17 43,974,964 (GRCm39) critical splice donor site probably null
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
R7309:Slc25a27 UTSW 17 43,975,083 (GRCm39) missense probably benign
R7920:Slc25a27 UTSW 17 43,960,564 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GGACAATTTGGGTGCTCTCAC -3'
(R):5'- TTCACCCAAGGCCTGTAAAGTG -3'

Sequencing Primer
(F):5'- CCTCTTCGCAAATGTAACTTCAAAGG -3'
(R):5'- CCAAGGCCTGTAAAGTGTGGTG -3'
Posted On 2018-03-15